KEGG   Homo sapiens (human): 1277
Entry
1277              CDS       T01001                                 
Symbol
COL1A1, CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4
Name
(RefSeq) collagen type I alpha 1 chain
  KO
K06236  collagen type I alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04611  Platelet activation
hsa04820  Cytoskeleton in muscle cells
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05205  Proteoglycans in cancer
hsa05415  Diabetic cardiomyopathy
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H00506  Osteogenesis imperfecta
H00613  Infantile cortical hyperostosis
H01593  Osteoporosis
H02243  Ehlers-Danlos syndrome arthrochalasia type
H02724  Combined osteogenesis imperfecta and Ehlers-Danlos syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1277 (COL1A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1277 (COL1A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1277 (COL1A1)
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1277 (COL1A1)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    1277 (COL1A1)
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1277 (COL1A1)
  09154 Digestive system
   04974 Protein digestion and absorption
    1277 (COL1A1)
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    1277 (COL1A1)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1277 (COL1A1)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1277 (COL1A1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    1277 (COL1A1)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1277 (COL1A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1277 (COL1A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1277 (COL1A1)
SSDB
Motif
Pfam: Collagen COLFI VWC
Other DBs
NCBI-GeneID: 1277
NCBI-ProteinID: NP_000079
OMIM: 120150
HGNC: 2197
Ensembl: ENSG00000108821
UniProt: P02452
Structure
LinkDB
Position
17:complement(50184101..50201631)
AA seq 1464 aa
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRI
CVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSESPTDQETTGVEGPKGDTGPR
GPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGR
PGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQ
MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGP
QGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGL
PGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGV
PGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAGPPGEAGKPGE
QGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGD
KGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGP
PGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGV
VGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGA
EGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPAGPVGP
VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGP
RGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSF
LPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCR
DLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKD
KRHVWFGESMTDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQ
TGNLKKALLLQGSNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPII
DVAPLDVGAPDQEFGFDVGPVCFL
NT seq 4395 nt   +upstreamnt  +downstreamnt
atgttcagctttgtggacctccggctcctgctcctcttagcggccaccgccctcctgacg
cacggccaagaggaaggccaagtcgagggccaagacgaagacatcccaccaatcacctgc
gtacagaacggcctcaggtaccatgaccgagacgtgtggaaacccgagccctgccggatc
tgcgtctgcgacaacggcaaggtgttgtgcgatgacgtgatctgtgacgagaccaagaac
tgccccggcgccgaagtccccgagggcgagtgctgtcccgtctgccccgacggctcagag
tcacccaccgaccaagaaaccaccggcgtcgagggacccaagggagacactggcccccga
ggcccaaggggacccgcaggcccccctggccgagatggcatccctggacagcctggactt
cccggaccccccggaccccccggacctcccggaccccctggcctcggaggaaactttgct
ccccagctgtcttatggctatgatgagaaatcaaccggaggaatttccgtgcctggcccc
atgggtccctctggtcctcgtggtctccctggcccccctggtgcacctggtccccaaggc
ttccaaggtccccctggtgagcctggcgagcctggagcttcaggtcccatgggtccccga
ggtcccccaggtccccctggaaagaatggagatgatggggaagctggaaaacctggtcgt
cctggtgagcgtgggcctcctgggcctcagggtgctcgaggattgcccggaacagctggc
ctccctggaatgaagggacacagaggtttcagtggtttggatggtgccaagggagatgct
ggtcctgctggtcctaagggtgagcctggcagccctggtgaaaatggagctcctggtcag
atgggcccccgtggcctgcctggtgagagaggtcgccctggagcccctggccctgctggt
gctcgtggaaatgatggtgctactggtgctgccgggccccctggtcccaccggccccgct
ggtcctcctggcttccctggtgctgttggtgctaagggtgaagctggtccccaagggccc
cgaggctctgaaggtccccagggtgtgcgtggtgagcctggcccccctggccctgctggt
gctgctggccctgctggaaaccctggtgctgatggacagcctggtgctaaaggtgccaat
ggtgctcctggtattgctggtgctcctggcttccctggtgcccgaggcccctctggaccc
cagggccccggcggccctcctggtcccaagggtaacagcggtgaacctggtgctcctggc
agcaaaggagacactggtgctaagggagagcctggccctgttggtgttcaaggaccccct
ggccctgctggagaggaaggaaagcgaggagctcgaggtgaacccggacccactggcctg
cccggaccccctggcgagcgtggtggacctggtagccgtggtttccctggcgcagatggt
gttgctggtcccaagggtcccgctggtgaacgtggttctcctggccctgctggccccaaa
ggatctcctggtgaagctggtcgtcccggtgaagctggtctgcctggtgccaagggtctg
actggaagccctggcagccctggtcctgatggcaaaactggcccccctggtcccgccggt
caagatggtcgccccggacccccaggcccacctggtgcccgtggtcaggctggtgtgatg
ggattccctggacctaaaggtgctgctggagagcccggcaaggctggagagcgaggtgtt
cccggaccccctggcgctgtcggtcctgctggcaaagatggagaggctggagctcaggga
ccccctggccctgctggtcccgctggcgagagaggtgaacaaggccctgctggctccccc
ggattccagggtctccctggtcctgctggtcctccaggtgaagcaggcaaacctggtgaa
cagggtgttcctggagaccttggcgcccctggcccctctggagcaagaggcgagagaggt
ttccctggcgagcgtggtgtgcaaggtccccctggtcctgctggtccccgaggggccaac
ggtgctcccggcaacgatggtgctaagggtgatgctggtgcccctggagctcccggtagc
cagggcgcccctggccttcagggaatgcctggtgaacgtggtgcagctggtcttccaggg
cctaagggtgacagaggtgatgctggtcccaaaggtgctgatggctctcctggcaaagat
ggcgtccgtggtctgactggccccattggtcctcctggccctgctggtgcccctggtgac
aagggtgaaagtggtcccagcggccctgctggtcccactggagctcgtggtgcccccgga
gaccgtggtgagcctggtccccccggccctgctggctttgctggcccccctggtgctgac
ggccaacctggtgctaaaggcgaacctggtgatgctggtgctaaaggcgatgctggtccc
cctggccctgccggacccgctggaccccctggccccattggtaatgttggtgctcctgga
gccaaaggtgctcgcggcagcgctggtccccctggtgctactggtttccctggtgctgct
ggccgagtcggtcctcctggcccctctggaaatgctggaccccctggccctcctggtcct
gctggcaaagaaggcggcaaaggtccccgtggtgagactggccctgctggacgtcctggt
gaagttggtccccctggtccccctggccctgctggcgagaaaggatcccctggtgctgat
ggtcctgctggtgctcctggtactcccgggcctcaaggtattgctggacagcgtggtgtg
gtcggcctgcctggtcagagaggagagagaggcttccctggtcttcctggcccctctggt
gaacctggcaaacaaggtccctctggagcaagtggtgaacgtggtccccctggtcccatg
ggcccccctggattggctggaccccctggtgaatctggacgtgagggggctcctggtgcc
gaaggttcccctggacgagacggttctcctggcgccaagggtgaccgtggtgagaccggc
cccgctggaccccctggtgctcctggtgctcctggtgcccctggccccgttggccctgct
ggcaagagtggtgatcgtggtgagactggtcctgctggtcccgccggtcctgtcggccct
gttggcgcccgtggccccgccggaccccaaggcccccgtggtgacaagggtgagacaggc
gaacagggcgacagaggcataaagggtcaccgtggcttctctggcctccagggtccccct
ggccctcctggctctcctggtgaacaaggtccctctggagcctctggtcctgctggtccc
cgaggtccccctggctctgctggtgctcctggcaaagatggactcaacggtctccctggc
cccattgggccccctggtcctcgcggtcgcactggtgatgctggtcctgttggtcccccc
ggccctcctggacctcctggtccccctggtcctcccagcgctggtttcgacttcagcttc
ctgccccagccacctcaagagaaggctcacgatggtggccgctactaccgggctgatgat
gccaatgtggttcgtgaccgtgacctcgaggtggacaccaccctcaagagcctgagccag
cagatcgagaacatccggagcccagagggcagccgcaagaaccccgcccgcacctgccgt
gacctcaagatgtgccactctgactggaagagtggagagtactggattgaccccaaccaa
ggctgcaacctggatgccatcaaagtcttctgcaacatggagactggtgagacctgcgtg
taccccactcagcccagtgtggcccagaagaactggtacatcagcaagaaccccaaggac
aagaggcatgtctggttcggcgagagcatgaccgatggattccagttcgagtatggcggc
cagggctccgaccctgccgatgtggccatccagctgaccttcctgcgcctgatgtccacc
gaggcctcccagaacatcacctaccactgcaagaacagcgtggcctacatggaccagcag
actggcaacctcaagaaggccctgctcctccagggctccaacgagatcgagatccgcgcc
gagggcaacagccgcttcacctacagcgtcactgtcgatggctgcacgagtcacaccgga
gcctggggcaagacagtgattgaatacaaaaccaccaagacctcccgcctgcccatcatc
gatgtggcccccttggacgttggtgccccagaccaggaattcggcttcgacgttggccct
gtctgcttcctgtaa

KEGG   Homo sapiens (human): 1278
Entry
1278              CDS       T01001                                 
Symbol
COL1A2, EDSARTH2, EDSCV, OI4
Name
(RefSeq) collagen type I alpha 2 chain
  KO
K06236  collagen type I alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04611  Platelet activation
hsa04820  Cytoskeleton in muscle cells
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05205  Proteoglycans in cancer
hsa05415  Diabetic cardiomyopathy
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H00506  Osteogenesis imperfecta
H01593  Osteoporosis
H02241  Ehlers-Danlos syndrome cardiac valvular type
H02243  Ehlers-Danlos syndrome arthrochalasia type
H02724  Combined osteogenesis imperfecta and Ehlers-Danlos syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1278 (COL1A2)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1278 (COL1A2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1278 (COL1A2)
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1278 (COL1A2)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    1278 (COL1A2)
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1278 (COL1A2)
  09154 Digestive system
   04974 Protein digestion and absorption
    1278 (COL1A2)
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    1278 (COL1A2)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1278 (COL1A2)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1278 (COL1A2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    1278 (COL1A2)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1278 (COL1A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1278 (COL1A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1278 (COL1A2)
SSDB
Motif
Pfam: Collagen COLFI
Other DBs
NCBI-GeneID: 1278
NCBI-ProteinID: NP_000080
OMIM: 120160
HGNC: 2198
Ensembl: ENSG00000164692
UniProt: P08123 A0A0S2Z3H5
Structure
LinkDB
Position
7:94394895..94431227
AA seq 1366 aa
MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTG
PPGPPGPPGPPGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEP
GEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIR
GHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRVGAPGPAGARGSDGSV
GPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNP
GANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNK
GEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPP
GSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPI
GPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQ
GGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAA
GPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSGLPGERGAAGIPGGKGEKGEP
GLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPA
GPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDG
GPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPP
GFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIA
GPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAA
GAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLP
GLKGHNGLQGLPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIR
GPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRADQPRSAPSLRPKDYEVDATLK
SLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTG
ETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLL
ANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKK
TNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK
NT seq 4101 nt   +upstreamnt  +downstreamnt
atgctcagctttgtggatacgcggactttgttgctgcttgcagtaaccttatgcctagca
acatgccaatctttacaagaggaaactgtaagaaagggcccagccggagatagaggacca
cgtggagaaaggggtccaccaggccccccaggcagagatggtgaagatggtcccacaggc
cctcctggtccacctggtcctcctggcccccctggtctcggtgggaactttgctgctcag
tatgatggaaaaggagttggacttggccctggaccaatgggcttaatgggacctagaggc
ccacctggtgcagctggagccccaggccctcaaggtttccaaggacctgctggtgagcct
ggtgaacctggtcaaactggtcctgcaggtgctcgtggtccagctggccctcctggcaag
gctggtgaagatggtcaccctggaaaacccggacgacctggtgagagaggagttgttgga
ccacagggtgctcgtggtttccctggaactcctggacttcctggcttcaaaggcattagg
ggacacaatggtctggatggattgaagggacagcccggtgctcctggtgtgaagggtgaa
cctggtgcccctggtgaaaatggaactccaggtcaaacaggagcccgtgggcttcctggt
gagagaggacgtgttggtgcccctggcccagctggtgcccgtggcagtgatggaagtgtg
ggtcccgtgggtcctgctggtcccattgggtctgctggccctccaggcttcccaggtgcc
cctggccccaagggtgaaattggagctgttggtaacgctggtcctgctggtcccgccggt
ccccgtggtgaagtgggtcttccaggcctctccggccccgttggacctcctggtaatcct
ggagcaaacggccttactggtgccaagggtgctgctggccttcccggcgttgctggggct
cccggcctccctggaccccgcggtattcctggccctgttggtgctgccggtgctactggt
gccagaggacttgttggtgagcctggtccagctggctccaaaggagagagcggtaacaag
ggtgagcccggctctgctgggccccaaggtcctcctggtcccagtggtgaagaaggaaag
agaggccctaatggggaagctggatctgccggccctccaggacctcctgggctgagaggt
agtcctggttctcgtggtcttcctggagctgatggcagagctggcgtcatgggccctcct
ggtagtcgtggtgcaagtggccctgctggagtccgaggacctaatggagatgctggtcgc
cctggggagcctggtctcatgggacccagaggtcttcctggttcccctggaaatatcggc
cccgctggaaaagaaggtcctgtcggcctccctggcatcgacggcaggcctggcccaatt
ggcccagctggagcaagaggagagcctggcaacattggattccctggacccaaaggcccc
actggtgatcctggcaaaaacggtgataaaggtcatgctggtcttgctggtgctcggggt
gctccaggtcctgatggaaacaatggtgctcagggacctcctggaccacagggtgttcaa
ggtggaaaaggtgaacagggtccccctggtcctccaggcttccagggtctgcctggcccc
tcaggtcccgctggtgaagttggcaaaccaggagaaaggggtctccatggtgagtttggt
ctccctggtcctgctggtccaagaggggaacgcggtcccccaggtgagagtggtgctgcc
ggtcctactggtcctattggaagccgaggtccttctggacccccagggcctgatggaaac
aagggtgaacctggtgtggttggtgctgtgggcactgctggtccatctggtcctagtgga
ctcccaggagagaggggtgctgctggcatacctggaggcaagggagaaaagggtgaacct
ggtctcagaggtgaaattggtaaccctggcagagatggtgctcgtggtgctcctggtgct
gtaggtgcccctggtcctgctggagccacaggtgaccggggcgaagctggggctgctggt
cctgctggtcctgctggtcctcggggaagccctggtgaacgtggtgaggtcggtcctgct
ggccccaatggatttgctggtcctgctggtgctgctggtcaacctggtgctaaaggagaa
agaggagccaaagggcctaagggtgaaaacggtgttgttggtcccacaggccccgttgga
gctgctggcccagctggtccaaatggtccccccggtcctgctggaagtcgtggtgatgga
ggcccccctggtatgactggtttccctggtgctgctggacggactggtcccccaggaccc
tctggtatttctggccctcctggtccccctggtcctgctgggaaagaagggcttcgtggt
cctcgtggtgaccaaggtccagttggccgaactggagaagtaggtgcagttggtccccct
ggcttcgctggtgagaagggtccctctggagaggctggtactgctggacctcctggcact
ccaggtcctcagggtcttcttggtgctcctggtattctgggtctccctggctcgagaggt
gaacgtggtctaccaggtgttgctggtgctgtgggtgaacctggtcctcttggcattgcc
ggccctcctggggcccgtggtcctcctggtgctgtgggtagtcctggagtcaacggtgct
cctggtgaagctggtcgtgatggcaaccctgggaacgatggtcccccaggtcgcgatggt
caacccggacacaagggagagcgcggttaccctggcaatattggtcccgttggtgctgca
ggtgcacctggtcctcatggccccgtgggtcctgctggcaaacatggaaaccgtggtgaa
actggtccttctggtcctgttggtcctgctggtgctgttggcccaagaggtcctagtggc
ccacaaggcattcgtggcgataagggagagcccggtgaaaaggggcccagaggtcttcct
ggcttaaagggacacaatggattgcaaggtctgcctggtatcgctggtcaccatggtgat
caaggtgctcctggctccgtgggtcctgctggtcctaggggccctgctggtccttctggc
cctgctggaaaagatggtcgcactggacatcctggtacagttggacctgctggcattcga
ggccctcagggtcaccaaggccctgctggcccccctggtccccctggccctcctggacct
ccaggtgtaagcggtggtggttatgactttggttacgatggagacttctacagggctgac
cagcctcgctcagcaccttctctcagacccaaggactatgaagttgatgctactctgaag
tctctcaacaaccagattgagacccttcttactcctgaaggctctagaaagaacccagct
cgcacatgccgtgacttgagactcagccacccagagtggagcagtggttactactggatt
gaccctaaccaaggatgcactatggatgctatcaaagtatactgtgatttctctactggc
gaaacctgtatccgggcccaacctgaaaacatcccagccaagaactggtataggagctcc
aaggacaagaaacacgtctggctaggagaaactatcaatgctggcagccagtttgaatat
aatgtagaaggagtgacttccaaggaaatggctacccaacttgccttcatgcgcctgctg
gccaactatgcctctcagaacatcacctaccactgcaagaacagcattgcatacatggat
gaggagactggcaacctgaaaaaggctgtcattctacagggctctaatgatgttgaactt
gttgctgagggcaacagcaggttcacttacactgttcttgtagatggctgctctaaaaag
acaaatgaatggggaaagacaatcattgaatacaaaacaaataagccatcacgcctgccc
ttccttgatattgcacctttggacatcggtggtgctgaccaggaattctttgtggacatt
ggcccagtctgtttcaaataa

KEGG   Homo sapiens (human): 1281
Entry
1281              CDS       T01001                                 
Symbol
COL3A1, EDS4A, EDSVASC, PMGEDSV
Name
(RefSeq) collagen type III alpha 1 chain
  KO
K19720  collagen type III alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04611  Platelet activation
hsa04820  Cytoskeleton in muscle cells
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05415  Diabetic cardiomyopathy
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H00271  Polymicrogyria
H02242  Ehlers-Danlos syndrome vascular type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1281 (COL3A1)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    1281 (COL3A1)
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1281 (COL3A1)
  09154 Digestive system
   04974 Protein digestion and absorption
    1281 (COL3A1)
 09160 Human Diseases
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1281 (COL3A1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    1281 (COL3A1)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1281 (COL3A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1281 (COL3A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1281 (COL3A1)
SSDB
Motif
Pfam: Collagen COLFI VWC
Other DBs
NCBI-GeneID: 1281
NCBI-ProteinID: NP_000081
OMIM: 120180
HGNC: 2201
Ensembl: ENSG00000168542
UniProt: P02461 A0AAG2UVC5
Structure
LinkDB
Position
2:188974373..189012746
AA seq 1466 aa
MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSV
LCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRN
GDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPG
PPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPG
ERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGENGAPGPMG
PRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPG
SNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAG
ANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPG
AAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPG
SPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPG
GPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPG
PKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAG
TPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKG
EGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPG
VAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPG
KDGPPGPAGNTGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAG
PPGMPGPRGSPGPQGVKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDG
LPGRDGSPGGKGDRGENGSPGAPGAPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAG
SRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRG
PVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGV
GAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPAR
NCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSS
AEKKHVWFGESMDGGFQFSYGNPELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMD
QASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLP
IVDIAPYDIGGPDQEFGVDVGPVCFL
NT seq 4401 nt   +upstreamnt  +downstreamnt
atgatgagctttgtgcaaaaggggagctggctacttctcgctctgcttcatcccactatt
attttggcacaacaggaagctgttgaaggaggatgttcccatcttggtcagtcctatgcg
gatagagatgtctggaagccagaaccatgccaaatatgtgtctgtgactcaggatccgtt
ctctgcgatgacataatatgtgacgatcaagaattagactgccccaacccagaaattcca
tttggagaatgttgtgcagtttgcccacagcctccaactgctcctactcgccctcctaat
ggtcaaggacctcaaggccccaagggagatccaggccctcctggtattcctgggagaaat
ggtgaccctggtattccaggacaaccagggtcccctggttctcctggcccccctggaatc
tgtgaatcatgccctactggtcctcagaactattctccccagtatgattcatatgatgtc
aagtctggagtagcagtaggaggactcgcaggctatcctggaccagctggccccccaggc
cctcccggtccccctggtacatctggtcatcctggttcccctggatctccaggataccaa
ggaccccctggtgaacctgggcaagctggtccttcaggccctccaggacctcctggtgct
ataggtccatctggtcctgctggaaaagatggagaatcaggtagacccggacgacctgga
gagcgaggattgcctggacctccaggtatcaaaggtccagctgggatacctggattccct
ggtatgaaaggacacagaggcttcgatggacgaaatggagaaaagggtgaaacaggtgct
cctggattaaagggtgaaaatggtcttccaggcgaaaatggagctcctggacccatgggt
ccaagaggggctcctggtgagcgaggacggccaggacttcctggggctgcaggtgctcgg
ggtaatgacggtgctcgaggcagtgatggtcaaccaggccctcctggtcctcctggaact
gccggattccctggatcccctggtgctaagggtgaagttggacctgcagggtctcctggt
tcaaatggtgcccctggacaaagaggagaacctggacctcagggacacgctggtgctcaa
ggtcctcctggccctcctgggattaatggtagtcctggtggtaaaggcgaaatgggtccc
gctggcattcctggagctcctggactgatgggagcccggggtcctccaggaccagccggt
gctaatggtgctcctggactgcgaggtggtgcaggtgagcctggtaagaatggtgccaaa
ggagagcccggaccacgtggtgaacgcggtgaggctggtattccaggtgttccaggagct
aaaggcgaagatggcaaggatggatcacctggagaacctggtgcaaatgggcttccagga
gctgcaggagaaaggggtgcccctgggttccgaggacctgctggaccaaatggcatccca
ggagaaaagggtcctgctggagagcgtggtgctccaggccctgcagggcccagaggagct
gctggagaacctggcagagatggcgtccctggaggtccaggaatgaggggcatgcccgga
agtccaggaggaccaggaagtgatgggaaaccagggcctcccggaagtcaaggagaaagt
ggtcgaccaggtcctcctgggccatctggtccccgaggtcagcctggtgtcatgggcttc
cccggtcctaaaggaaatgatggtgctcctggtaagaatggagaacgaggtggccctgga
ggacctggccctcagggtcctcctggaaagaatggtgaaactggacctcagggaccccca
gggcctactgggcctggtggtgacaaaggagacacaggaccccctggtccacaaggatta
caaggcttgcctggtacaggtggtcctccaggagaaaatggaaaacctggggaaccaggt
ccaaagggtgatgccggtgcacctggagctccaggaggcaagggtgatgctggtgcccct
ggtgaacgtggacctcctggattggcaggggccccaggacttagaggtggagctggtccc
cctggtcccgaaggaggaaagggtgctgctggtcctcctgggccacctggtgctgctggt
actcctggtctgcaaggaatgcctggagaaagaggaggtcttggaagtcctggtccaaag
ggtgacaagggtgaaccaggcggtccaggtgctgatggtgtcccagggaaagatggccca
aggggtcctactggtcctattggtcctcctggcccagctggccagcctggagataagggt
gaaggtggtgcccccggacttccaggtatagctggacctcgtggtagccctggtgagaga
ggtgaaactggccctccaggacctgctggtttccctggtgctcctggacagaatggtgaa
cctggtggtaaaggagaaagaggggctccgggtgagaaaggtgaaggaggccctcctgga
gttgcaggaccccctggaggttctggacctgctggtcctcctggtccccaaggtgtcaaa
ggtgaacgtggcagtcctggtggacctggtgctgctggcttccctggtgctcgtggtctt
cctggtcctcctggtagtaatggtaacccaggacccccaggtcccagcggttctccaggc
aaggatgggcccccaggtcctgcgggtaacactggtgctcctggcagccctggagtgtct
ggaccaaaaggtgatgctggccaaccaggagagaagggatcgcctggtgcccagggccca
ccaggagctccaggcccacttgggattgctgggatcactggagcacggggtcttgcagga
ccaccaggcatgccaggtcctaggggaagccctggccctcagggtgtcaagggtgaaagt
gggaaaccaggagctaacggtctcagtggagaacgtggtccccctggaccccagggtctt
cctggtctggctggtacagctggtgaacctggaagagatggaaaccctggatcagatggt
cttccaggccgagatggatctcctggtggcaagggtgatcgtggtgaaaatggctctcct
ggtgcccctggcgctcctggtcatccaggcccacctggtcctgtcggtccagctggaaag
agtggtgacagaggagaaagtggccctgctggccctgctggtgctcccggtcctgctggt
tcccgaggtgctcctggtcctcaaggcccacgtggtgacaaaggtgaaacaggtgaacgt
ggagctgctggcatcaaaggacatcgaggattccctggtaatccaggtgccccaggttct
ccaggccctgctggtcagcagggtgcaatcggcagtccaggacctgcaggccccagagga
cctgttggacccagtggacctcctggcaaagatggaaccagtggacatccaggtcccatt
ggaccaccagggcctcgaggtaacagaggtgaaagaggatctgagggctccccaggccac
ccagggcaaccaggccctcctggacctcctggtgcccctggtccttgctgtggtggtgtt
ggagccgctgccattgctgggattggaggtgaaaaagctggcggttttgccccgtattat
ggagatgaaccaatggatttcaaaatcaacaccgatgagattatgacttcactcaagtct
gttaatggacaaatagaaagcctcattagtcctgatggttctcgtaaaaaccccgctaga
aactgcagagacctgaaattctgccatcctgaactcaagagtggagaatactgggttgac
cctaaccaaggatgcaaattggatgctatcaaggtattctgtaatatggaaactggggaa
acatgcataagtgccaatcctttgaatgttccacggaaacactggtggacagattctagt
gctgagaagaaacacgtttggtttggagagtccatggatggtggttttcagtttagctac
ggcaatcctgaacttcctgaagatgtccttgatgtgcatctggcattccttcgacttctc
tccagccgagcttcccagaacatcacatatcactgcaaaaatagcattgcatacatggat
caggccagtggaaatgtaaagaaggccctgaagctgatggggtcaaatgaaggtgaattc
aaggctgaaggaaatagcaaattcacctacacagttctggaggatggttgcacgaaacac
actggggaatggagcaaaacagtctttgaatatcgaacacgcaaggctgtgagactacct
attgtagatattgcaccctatgacattggtggtcctgatcaagaatttggtgtggacgtt
ggccctgtttgctttttataa

KEGG   Homo sapiens (human): 1289
Entry
1289              CDS       T01001                                 
Symbol
COL5A1, EDSC, EDSCL1, FMDMF
Name
(RefSeq) collagen type V alpha 1 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04974  Protein digestion and absorption
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H00802  Ehlers-Danlos syndrome
H02719  Multifocal fibromuscular dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1289 (COL5A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1289 (COL5A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1289 (COL5A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1289 (COL5A1)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_1
Other DBs
NCBI-GeneID: 1289
NCBI-ProteinID: NP_000084
OMIM: 120215
HGNC: 2209
Ensembl: ENSG00000130635
UniProt: P20908 B2ZZ86 Q59EE7
Structure
LinkDB
Position
9:134641803..134844843
AA seq 1838 aa
MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKVLDFHNLPDGITKTTG
FCATRRSSKGPDVAYRVTKDAQLSAPTKQLYPASAFPEDFSILTTVKAKKGSQAFLVSIY
NEQGIQQIGLELGRSPVFLYEDHTGKPGPEDYPLFRGINLSDGKWHRIALSVHKKNVTLI
LDCKKKTTKFLDRSDHPMIDINGIIVFGTRILDEEVFEGDIQQLLFVSDHRAAYDYCEHY
SPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYEYPYYEDPEDLGKEPTPSKKPVEAA
KETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDYVPSEDYYTPSPYDDLTYGEG
EENPDQPTDPGAGAEIPTSTADTSNSSNPAPPPGEGADDLEGEFTEETIRNLDENYYDPY
YDPTSSPSEIGPGMPANQDTIYEGIGGPRGEKGQKGEPAIIEPGMLIEGPPGPEGPAGLP
GPPGTMGPTGQVGDPGERGPPGRPGLPGADGLPGPPGTMLMLPFRFGGGGDAGSKGPMVS
AQESQAQAILQQARLALRGPAGPMGLTGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPP
GPAGKPGRRGRAGSDGARGMPGQTGPKGDRGFDGLAGLPGEKGHRGDPGPSGPPGPPGDD
GERGDDGEVGPRGLPGEPGPRGLLGPKGPPGPPGPPGVTGMDGQPGPKGNVGPQGEPGPP
GQQGNPGAQGLPGPQGAIGPPGEKGPLGKPGLPGMPGADGPPGHPGKEGPPGEKGGQGPP
GPQGPIGYPGPRGVKGADGIRGLKGTKGEKGEDGFPGFKGDMGIKGDRGEIGPPGPRGED
GPEGPKGRGGPNGDPGPLGPPGEKGKLGVPGLPGYPGRQGPKGSIGFPGFPGANGEKGGR
GTPGKPGPRGQRGPTGPRGERGPRGITGKPGPKGNSGGDGPAGPPGERGPNGPQGPTGFP
GPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPPGVVGPQGPTGETGPMGERGHPGPP
GPPGEQGLPGLAGKEGTKGDPGPAGLPGKDGPPGLRGFPGDRGLPGPVGALGLKGNEGPP
GPPGPAGSPGERGPAGAAGPIGIPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGLQGPV
GLPGPAGPVGPPGEDGDKGEIGEPGQKGSKGDKGEQGPPGPTGPQGPIGQPGPSGADGEP
GPRGQQGLFGQKGDEGPRGFPGPPGPVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPS
GAPGADGPQGPPGGIGNPGAVGEKGEPGEAGEPGLPGEGGPPGPKGERGEKGESGPSGAA
GPPGPKGPPGDDGPKGSPGPVGFPGDPGPPGEPGPAGQDGPPGDKGDDGEPGQTGSPGPT
GEPGPSGPPGKRGPPGPAGPEGRQGEKGAKGEAGLEGPPGKTGPIGPQGAPGKPGPDGLR
GIPGPVGEQGLPGSPGPDGPPGPMGPPGLPGLKGDSGPKGEKGHPGLIGLIGPPGEQGEK
GDRGLPGPQGSSGPKGEQGITGPSGPIGPPGPPGLPGPPGPKGAKGSSGPTGPKGEAGHP
GPPGPPGPPGEVIQPLPIQASRTRRNIDASQLLDDGNGENYVDYADGMEEIFGSLNSLKL
EIEQMKRPLGTQQNPARTCKDLQLCHPDFPDGEYWVDPNQGCSRDSFKVYCNFTAGGSTC
VFPDKKSEGARITSWPKENPGSWFSEFKRGKLLSYVDAEGNPVGVVQMTFLRLLSASAHQ
NVTYHCYQSVAWQDAATGSYDKALRFLGSNDEEMSYDNNPYIRALVDGCATKKGYQKTVL
EIDTPKVEQVPIVDIMFNDFGEASQKFGFEVGPACFMG
NT seq 5517 nt   +upstreamnt  +downstreamnt
atggacgtccatacccgctggaaagcgcgcagcgcgctccgcccgggcgccccgctgctg
cccccgctgctgctgctgctgctgtgggcgccgcctccgagccgcgcagctcagccagca
gatctcctgaaggttctagattttcacaacttgcctgatggaataacaaagacaacaggc
ttttgcgccacgcggcgatcttccaaaggcccggatgtcgcttacagagtcaccaaagac
gcgcagctcagcgcacccaccaagcagctgtaccctgcgtctgcatttcccgaggacttc
tccatcctaacaactgtgaaagccaagaaaggcagccaggccttcctggtctccatctac
aacgagcagggtatccagcagattgggctggagctgggccgctctcccgtcttcctctac
gaggaccacacggggaagcctggcccggaagactaccccctcttccggggcatcaacctg
tcagatggcaagtggcacagaattgctctcagcgtccacaagaaaaatgtcaccttgatc
ctcgactgtaaaaagaagaccaccaaattcctcgaccgcagcgaccaccccatgatcgac
atcaatggcatcatcgtgtttggcacccggatcctggatgaggaggtgtttgagggtgac
atccagcagctgctctttgtctcggaccaccgggcagcttatgattactgtgagcactac
agccctgactgtgacaccgcagtacctgacaccccacagtcgcaggaccccaatccagat
gaatattacacggaaggagacggcgagggtgagacctattactacgaatacccctactac
gaagaccccgaagacctagggaaggagcccacccccagcaagaagcccgtggaagctgcc
aaagaaaccacagaggtccccgaggagctgaccccgacccccacggaagctgctcccatg
cctgaaaccagtgaaggggctgggaaggaagaggacgtcggcatcggggactatgactac
gtgcccagtgaggactactacacgccctcaccgtatgatgacctcacctatggcgagggg
gaggagaaccccgaccagcccacagacccaggcgctggggccgaaattcccaccagcacc
gccgacacctccaactcctccaatccagctccgcctccaggggaaggtgcggatgacttg
gagggggagttcactgaggaaacgatccggaaccttgacgagaactactacgacccctac
tacgaccccaccagctccccgtcggagatcgggccgggaatgccggcgaaccaggatacc
atctatgaagggattggaggacctcggggcgagaaaggccaaaagggagaaccagcgatt
atcgagccgggcatgctcatcgagggcccgcctggcccagaaggccccgcgggtcttccc
ggacctccaggaaccatgggtcccactggccaagtcggggaccctggagaaaggggcccc
cctggacgcccaggccttcctggggccgatggcctgcccggtcctccaggaaccatgctc
atgctgcccttccggtttggaggtggcggcgatgcgggctccaaaggccccatggtctca
gcccaggagtcccaggcgcaagccattctccagcaggccaggttggcactgaggggacca
gctggcccgatgggtctcacagggagacctggccctgtgggtccccctgggagcggaggt
ttgaagggcgagccgggagacgtggggcctcagggtcctcgaggtgtgcaaggcccgcct
ggtccggccgggaagcccggaagacggggtcgggctgggagtgatggagccagaggaatg
cctggacaaactggccccaagggtgaccggggtttcgacggcctggctgggttgccaggc
gagaagggccacaggggtgaccctggtccttccggcccaccaggacctccgggagacgat
ggagaaaggggtgacgacggagaagttgggcccagggggctgcctggggagcccgggcca
cgtggtctgcttgggccgaaggggcccccaggtcctcccggacctcccggtgtcacgggt
atggacggccagccggggccaaaaggaaatgtgggtccccagggagagcctggcccccca
ggacagcagggtaatccaggcgcccagggtcttccaggcccccagggtgcaattggtcct
ccaggagaaaagggtcccttggggaaaccaggccttccaggaatgcccggtgctgacgga
cccccgggacaccctggcaaagaaggccctccaggagagaaaggaggtcagggtccacct
ggcccccagggtccgattggctacccaggtcctcgaggagtcaagggggccgatggcatc
cgtggtctgaagggcacaaagggcgagaagggtgaagacggctttcctgggtttaaagga
gacatgggcatcaagggtgatcggggggagatcggcccacccggtcccaggggagaagat
ggccctgaaggcccaaagggtcgcggaggtcccaatggtgaccccggtcctctgggaccc
cctggggagaagggaaaactcggagtcccagggttaccagggtatccaggaagacaagga
ccaaagggctctattggattccctggatttcctggcgccaatggagagaagggcggcagg
gggacccctggaaagccaggaccgcgggggcagcgaggcccaacgggtccgaggggtgaa
agaggcccccggggcatcactgggaagcctggccccaagggcaactccggaggtgacggc
ccagctggccctcctggtgaacggggacccaatggaccccaaggacccacaggatttcct
ggaccaaagggcccccctggccctccaggcaaggatggactcccaggacaccctggacag
agaggcgagactggtttccaaggcaagaccggccctccaggcccccccggcgtggtcggc
cctcagggtcccacgggagaaacgggcccaatgggtgagcgtggccaccctgggccccct
ggaccccccggtgaacaggggcttccgggccttgctggaaaagaagggacgaagggtgac
ccaggccctgcaggcctccctgggaaagatggccctccaggattacgtggtttccctggg
gaccgagggcttcctggtccagtgggagctcttggactgaaaggcaatgaagggccccct
ggcccaccaggccctgcgggatctccaggggagagaggtccagctggagccgctgggccc
atcggaattccagggagacctgggccccagggacccccagggccggcaggagagaaaggg
gctcctggcgagaaaggcccacaaggcccagctggccgagacggtctccaggggcctgtg
gggctcccgggtccagctggccctgtgggtccccctggagaagacggagataagggagag
atcggggagccggggcagaaaggaagcaagggggacaaaggagaacagggtcctcctggg
cctacaggtcctcaaggccccatcggacagccaggcccctctggagctgacggcgagccg
gggcctcggggccagcagggccttttcgggcagaaaggtgatgaaggtcccagaggcttt
cctggaccccctgggccagtggggctgcagggtttgccaggacctccaggcgagaagggt
gagacaggagacgtgggccagatgggccccccgggtccccctggcccccgaggaccctcc
ggagctccaggtgctgatggcccacaaggtcccccaggtggaataggaaaccctggtgca
gtgggagagaagggcgagcctggcgaagcaggtgagcctggccttccgggagaaggcggc
cccccgggacccaaaggagaaaggggagagaagggcgagtcaggcccttcaggtgctgcc
ggaccccctggacccaaaggccctcccggagatgatggtcccaaaggcagccctggccca
gtgggttttcctggagatcctggcccccccggagagcctggccccgcgggtcaagatggt
ccccctggtgacaaaggagatgatggtgaacccgggcagacgggatcccccggccctact
ggtgaaccaggtccatcggggcctccaggaaaaaggggtcccccaggccccgcaggcccc
gaaggcagacagggagagaaaggggccaagggagaagccggcttggaaggccctcctggg
aagactggccccatcggcccccagggggcccctgggaagcccggaccggatggccttcga
gggatccctggccctgtgggagaacaaggtctcccaggatccccaggcccggacggtccc
cccggccccatgggtcccccaggacttcccggcctcaaaggagattctggtcccaaaggt
gaaaagggtcatccaggcctgatcgggctcatcggtcctccgggtgaacagggtgagaag
ggcgaccgtggtctccctggcccccagggctcctccggtcctaagggagaacagggtatc
actggtccttctggcccgattgggcctcctgggccccctggcctgccgggtccgcctggt
ccaaaaggtgctaagggctcctcgggtccaactggcccgaagggtgaggcaggccaccca
ggacccccaggccccccgggccccccgggagaggtcatccagcccctgccaatccaggca
tccaggacgcggcggaacatcgacgccagccagctgctggacgacgggaatggcgagaac
tacgtggactacgcggacggcatggaagagatcttcggctctctcaactctctgaagctg
gagattgagcagatgaaacggcccctgggcacgcagcagaaccccgcccgcacctgcaag
gacctgcagctctgccaccccgacttcccagatggtgaatactgggtcgatcctaaccaa
ggatgctccagggattccttcaaggtttactgcaacttcacagccggggggtcgacatgc
gtcttccctgacaagaagtccgaaggggccagaatcacttcttggcccaaagaaaacccg
ggctcctggttcagtgaattcaagcgtgggaaactgctctcctatgtggacgccgagggc
aaccctgtgggtgtggtacagatgaccttcctgcggctgctgagcgcctctgcccaccag
aacgtcacctaccactgctaccagtcagtggcctggcaggacgcagccacgggcagctac
gacaaggccctccgcttcctgggctccaacgacgaggagatgtcctatgacaacaacccc
tacatccgcgccctggtggacggctgtgctaccaagaaaggctaccagaagacggttctg
gagatcgacacccccaaagtggagcaggtgcccatcgtggacatcatgttcaatgacttc
ggtgaagcgtcacagaaatttggatttgaagtggggccggcttgcttcatgggctag

KEGG   Homo sapiens (human): 1290
Entry
1290              CDS       T01001                                 
Symbol
COL5A2, EDSC, EDSCL2
Name
(RefSeq) collagen type V alpha 2 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04974  Protein digestion and absorption
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H00802  Ehlers-Danlos syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1290 (COL5A2)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1290 (COL5A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1290 (COL5A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1290 (COL5A2)
SSDB
Motif
Pfam: Collagen COLFI VWC TILa Amnionless
Other DBs
NCBI-GeneID: 1290
NCBI-ProteinID: NP_000384
OMIM: 120190
HGNC: 2210
Ensembl: ENSG00000204262
UniProt: P05997
LinkDB
Position
2:complement(189031898..189441111)
AA seq 1499 aa
MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNGQMYLNRDIWKPAPCQ
ICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVCSQTPGGGNTNFGRGRKGQKGEPGL
VPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGIDGEPGVPGQPGAPGPPGHPS
HPGPDGLSRPFSAQMAGLDEKSGLGSQVGLMPGSVGPVGPRGPQGLQGQQGGAGPTGPPG
EPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPGEVGFAGSPGARGFPGAPGLPGLKG
HRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGPLGPRGMPGERGRLGPQGAPGQRGAHG
MPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPTGARGPEGPQGQRGETGPPGPVGSPGLPG
AIGTDGTPGAKGPTGSPGTSGPPGSAGPPGSPGPQGSTGPQGIRGQPGDPGVPGFKGEAG
PKGEPGPHGIQGPIGPPGEEGKRGPRGDPGTVGPPGPVGERGAPGNRGFPGSDGLPGPKG
AQGERGPVGSSGPKGSQGDPGRPGEPGLPGARGLTGNPGVQGPEGKLGPLGAPGEDGRPG
PPGSIGIRGQPGSMGLPGPKGSSGDPGKPGEAGNAGVPGQRGAPGKDGEVGPSGPVGPPG
LAGERGEQGPPGPTGFQGLPGPPGPPGEGGKPGDQGVPGDPGAVGPLGPRGERGNPGERG
EPGITGLPGEKGMAGGHGPDGPKGSPGPSGTPGDTGPPGLQGMPGERGIAGTPGPKGDRG
GIGEKGAEGTAGNDGARGLPGPLGPPGPAGPTGEKGEPGPRGLVGPPGSRGNPGSRGENG
PTGAVGFAGPQGPDGQPGVKGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRG
TQGPPGATGFPGSAGRVGPPGPAGAPGPAGPLGEPGKEGPPGLRGDPGSHGRVGDRGPAG
PPGGPGDKGDPGEDGQPGPDGPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVG
PTGATGDKGPPGPVGPPGSNGPVGEPGPEGPAGNDGTPGRDGAVGERGDRGDPGPAGLPG
SQGAPGTPGPVGAPGDAGQRGDPGSRGPIGPPGRAGKRGLPGPQGPRGDKGDHGDRGDRG
QKGHRGFTGLQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVGPSGKEGNPGPLGPIGPPG
VRGSVGEAGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDD
KNKTDPGVHATLKSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSV
EDAIKVYCNMETGETCISANPSSVPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSP
NTAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNIR
FRYIVLQDTCSKRNGNVGKTVFEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVCFV
NT seq 4500 nt   +upstreamnt  +downstreamnt
atgatggcaaactgggcggaagcaagacctctcctcattcttattgttttattagggcaa
tttgtctcaataaaagcccaggaagaagacgaggatgaaggatatggtgaagaaatagcc
tgcactcagaatggccagatgtacttaaacagggacatttggaaacctgccccttgtcag
atctgtgtctgtgacaatggagccattctctgtgacaagatagaatgccaggatgtgctg
gactgtgccgaccctgtaacgccccctggggaatgctgtcctgtctgttcacaaacacct
ggaggtggcaataccaattttggtagaggaagaaagggacaaaagggagaaccaggatta
gtgcctgttgtaacaggcatacgtggtcgtccaggaccggcaggacctccaggatcacag
ggaccaagaggagagcgagggccaaaaggaagacctggccctcgtggacctcagggaatt
gatggagaaccaggtgttcctggtcaacctggtgctccaggacctcctggacatccgtcc
cacccaggacccgatggcttgagcaggccgttttcagctcaaatggctgggttggatgaa
aaatctggacttgggagtcaagtaggactaatgcctggctctgtgggtcctgttggccca
aggggaccacagggtttacaaggacagcaaggtggtgcaggacctacaggacctcctggt
gaacctggtgatcctggaccaatgggtccgattggttcacgtggaccagagggccctcct
ggtaaacctggggaagatggtgaacctggcagaaatggaaatcctggtgaagtgggattt
gcaggatctccgggagctcgtggatttcctggggctcctggtcttccaggtctgaagggt
caccgaggacacaaaggtcttgaaggccctaaaggtgaagttggagcacctggttccaag
ggtgaagctggccccactggtccaatgggtgccatgggtcctctgggtccgaggggaatg
ccaggagagagagggagacttgggccacagggtgctcctggacaacgaggtgcacatggt
atgcctggaaaacctggaccaatgggtcctcttgggataccaggctcttctggttttcca
ggaaatcctggaatgaagggagaagcaggtcctacaggggcgcgaggccctgaaggtcct
caggggcagagaggtgaaactgggcccccaggtccagttggctctccaggtcttcctggt
gcaataggaactgatggtactcctggtgccaaaggcccaacgggctctccaggtacctct
ggtcctcctggctcagcagggcctcctggatctccaggacctcagggtagcactggtcct
cagggaattcgaggccaaccgggtgatccaggagttccaggtttcaaaggagaagctggc
ccaaaaggggaaccagggccacatggtattcagggtccgataggcccacccggtgaagaa
ggcaaaagaggtcccagaggtgacccaggaacagttggtcctccagggccagtgggagaa
aggggtgctcctggcaatcgtggttttccaggctctgatggtttacctgggccaaagggt
gctcaaggagaacggggtcctgtaggttcttcaggacccaaaggaagccagggggatcca
ggacgtccaggggaacctgggcttccaggtgctcggggtttgacaggaaatcctggtgtt
caaggtcctgaaggaaaacttggacctttgggtgcgccaggggaagatggccgtccaggt
cctccaggctccataggaatcagagggcagcccgggagcatgggccttccaggccccaaa
ggtagcagtggtgaccctgggaaacctggagaagcaggaaatgctggagttcctgggcag
aggggagctcctggaaaagatggtgaagttggtccttctggtcctgtgggcccgccgggt
ctagctggtgaaagaggagaacaaggacctccaggccccacaggttttcaggggcttcct
ggtcctccagggcctcctggagaaggtggaaaaccaggtgatcaaggtgttcctggagat
cccggagcagttggcccgttaggacctagaggagaacgaggaaatcctggggaaagagga
gaacctgggataactggactccctggtgagaagggaatggctggaggacatggtcctgat
ggcccaaaaggcagtccaggtccatctgggacccctggagatacaggcccaccaggtctt
caaggtatgccgggagaaagaggaattgcaggaactcctggccccaagggtgacagaggt
ggcataggagaaaaaggtgctgaaggcacagctggaaatgatggtgcaagaggtcttcca
ggtcctttgggccctccaggtccggcaggtcctactggagaaaagggtgaacctggtcct
cgaggtttagttggccctcctggctcccggggcaatcctggttctcgaggtgaaaatggg
ccaactggagctgttggttttgccggaccccagggtcctgacggacagcctggagtaaaa
ggtgaacctggagagccaggacagaagggagatgctggttctcctggaccacaaggttta
gcaggatcccctggccctcatggtcctaatggtgttcctggactaaaaggtggtcgagga
acccaaggtccgcctggtgctacaggatttcctggttctgcgggcagagttggacctcca
ggccctgctggagctccaggacctgcgggacccctaggggaacccgggaaggagggacct
ccaggtcttcgtggggaccctggctctcatgggcgtgtgggagatcgaggaccagctggc
ccccctggtggcccaggagacaaaggggacccaggagaagatgggcaacctggtccagat
ggcccccctggtccagctggaacgaccgggcagagaggaattgttggcatgcctgggcaa
cgtggagagagaggcatgcccggcctaccaggcccagcgggaacaccaggaaaagtagga
ccaactggtgcaacaggagataaaggtccacctggacctgtggggcccccaggctccaat
ggtcctgtaggggaacctggaccagaaggtccagctggcaatgatggtaccccaggacgg
gatggtgctgttggagaacgtggtgatcgtggagaccctgggcctgcaggtctgccaggc
tctcagggtgcccctggaactcctggccctgtgggtgctccaggagatgcaggacaaaga
ggagatccgggttctcggggtcctataggaccacctggtcgagctgggaaacgtggatta
cctggaccccaaggacctcgtggtgacaaaggtgatcatggagaccgaggtgacagaggt
cagaagggccacagaggctttactggtcttcagggtcttcctggccctcctggtccaaat
ggtgaacaaggaagtgctggaatccctggaccatttggcccaagaggtcctccaggccca
gttggtccttcaggtaaagaaggaaaccctgggccacttgggccaattggacctccaggt
gtacgaggcagtgtaggagaagcaggacctgagggccctcctggtgagcctggcccacct
ggccctccgggtccccctggccaccttacagctgctcttggggatatcatggggcactat
gatgaaagcatgccagatccacttcctgagtttactgaagatcaggcggctcctgatgac
aaaaacaaaacggacccaggggttcatgctaccctgaagtcactcagtagtcagattgaa
accatgcgcagccccgatggctcgaaaaagcacccagcccgcacgtgtgatgacctaaag
ctttgccattccgcaaagcagagtggtgaatactggattgatcctaaccaaggatctgtt
gaagatgcaatcaaagtttactgcaacatggaaacaggagaaacatgtatttcagcaaac
ccatccagtgtaccacgtaaaacctggtgggccagtaaatctcctgacaataaacctgtt
tggtatggtcttgatatgaacagagggtctcagttcgcttatggagaccaccaatcacct
aatacagccattactcagatgacttttttgcgccttttatcaaaagaagcctcccagaac
atcacttacatctgtaaaaacagtgtaggatacatggacgatcaagctaagaacctcaaa
aaagctgtggttctcaaaggggcaaatgacttagatatcaaagcagagggaaatattaga
ttccggtatatcgttcttcaagacacttgctctaagcggaatggaaatgtgggcaagact
gtctttgaatatagaacacagaatgtggcacgcttgcccatcatagatcttgctcctgtg
gatgttggcggcacagaccaggaattcggcgttgaaattgggccagtttgttttgtgtaa

KEGG   Homo sapiens (human): 50509
Entry
50509             CDS       T01001                                 
Symbol
COL5A3
Name
(RefSeq) collagen type V alpha 3 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04974  Protein digestion and absorption
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    50509 (COL5A3)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    50509 (COL5A3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    50509 (COL5A3)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   50509 (COL5A3)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_3
Other DBs
NCBI-GeneID: 50509
NCBI-ProteinID: NP_056534
OMIM: 120216
HGNC: 14864
Ensembl: ENSG00000080573
UniProt: P25940
LinkDB
Position
19:complement(9959561..10010504)
AA seq 1745 aa
MGNRRDLGQPRAGLCLLLAALQLLPGTQADPVDVLKALGVQGGQAGVPEGPGFCPQRTPE
GDRAFRIGQASTLGIPTWELFPEGHFPENFSLLITLRGQPANQSVLLSIYDERGARQLGL
ALGPALGLLGDPFRPLPQQVNLTDGRWHRVAVSIDGEMVTLVADCEAQPPVLGHGPRFIS
IAGLTVLGTQDLGEKTFEGDIQELLISPDPQAAFQACERYLPDCDNLAPAATVAPQGEPE
TPRPRRKGKGKGRKKGRGRKGKGRKKNKEIWTSSPPPDSAENQTSTDIPKTETPAPNLPP
TPTPLVVTSTVTTGLNATILERSLDPDSGTELGTLETKAAREDEEGDDSTMGPDFRAAEY
PSRTQFQIFPGAGEKGAKGEPAVIEKGQQFEGPPGAPGPQGVVGPSGPPGPPGFPGDPGP
PGPAGLPGIPGIDGIRGPPGTVIMMPFQFAGGSFKGPPVSFQQAQAQAVLQQTQLSMKGP
PGPVGLTGRPGPVGLPGHPGLKGEEGAEGPQGPRGLQGPHGPPGRVGKMGRPGADGARGL
PGDTGPKGDRGFDGLPGLPGEKGQRGDFGHVGQPGPPGEDGERGAEGPPGPTGQAGEPGP
RGLLGPRGSPGPTGRPGVTGIDGAPGAKGNVGPPGEPGPPGQQGNHGSQGLPGPQGLIGT
PGEKGPPGNPGIPGLPGSDGPLGHPGHEGPTGEKGAQGPPGSAGPPGYPGPRGVKGTSGN
RGLQGEKGEKGEDGFPGFKGDVGLKGDQGKPGAPGPRGEDGPEGPKGQAGQAGEEGPPGS
AGEKGKLGVPGLPGYPGRPGPKGSIGFPGPLGPIGEKGKSGKTGQPGLEGERGPPGSRGE
RGQPGATGQPGPKGDVGQDGAPGIPGEKGLPGLQGPPGFPGPKGPPGHQGKDGRPGHPGQ
RGELGFQGQTGPPGPAGVLGPQGKTGEVGPLGERGPPGPPGPPGEQGLPGLEGREGAKGE
LGPPGPLGKEGPAGLRGFPGPKGGPGDPGPTGLKGDKGPPGPVGANGSPGERGPLGPAGG
IGLPGQSGSEGPVGPAGKKGSRGERGPPGPTGKDGIPGPLGPLGPPGAAGPSGEEGDKGD
VGAPGHKGSKGDKGDAGPPGQPGIRGPAGHPGPPGADGAQGRRGPPGLFGQKGDDGVRGF
VGVIGPPGLQGLPGPPGEKGEVGDVGSMGPHGAPGPRGPQGPTGSEGTPGLPGGVGQPGA
VGEKGERGDAGDPGPPGAPGIPGPKGDIGEKGDSGPSGAAGPPGKKGPPGEDGAKGSVGP
TGLPGDLGPPGDPGVSGIDGSPGEKGDPGDVGGPGPPGASGEPGAPGPPGKRGPSGHMGR
EGREGEKGAKGEPGPDGPPGRTGPMGARGPPGRVGPEGLRGIPGPVGEPGLLGAPGQMGP
PGPLGPSGLPGLKGDTGPKGEKGHIGLIGLIGPPGEAGEKGDQGLPGVQGPPGPKGDPGP
PGPIGSLGHPGPPGVAGPLGQKGSKGSPGSMGPRGDTGPAGPPGPPGAPAELHGLRRRRR
FVPVPLPVVEGGLEEVLASLTSLSLELEQLRRPPGTAERPGLVCHELHRNHPHLPDGEYW
IDPNQGCARDSFRVFCNFTAGGETCLYPDKKFEIVKLASWSKEKPGGWYSTFRRGKKFSY
VDADGSPVNVVQLNFLKLLSATARQNFTYSCQNAAAWLDEATGDYSHSARFLGTNGEELS
FNQTTAATVSVPQDGCRLRKGQTKTLFEFSSSRAGFLPLWDVAATDFGQTNQKFGFELGP
VCFSS
NT seq 5238 nt   +upstreamnt  +downstreamnt
atggggaaccgccgggacctgggccagccgcgggccggtctctgcctgctcctggccgcg
ctgcagcttctgccggggacgcaggccgatcctgtggatgtcctgaaggccctgggtgtg
cagggaggccaggctggggtccccgaggggcctggcttctgtccccagaggactccagag
ggtgaccgggcattcagaattggccaggccagcacgctcggcatccccacgtgggaactc
tttccagaaggccactttcctgagaacttctccttgctgatcaccttgcggggacagcca
gccaatcagtctgtcctgctgtccatttatgatgaaaggggtgcccggcagttgggcctg
gcactggggccagcgctgggtctcctaggtgaccccttccgccccctcccccagcaggtc
aacctcacagatggcaggtggcaccgtgtggccgtcagcatagatggtgagatggtgacc
ctggtagctgactgtgaagctcagccccctgttttgggccatggcccccgcttcatcagc
atagctggactcactgtgctggggacccaggaccttggggaaaagactttcgagggagac
attcaggagctgctgataagcccagatcctcaggctgccttccaggcttgtgagcggtac
ctccccgactgtgacaacctggcaccggcagccacagtggctccccagggtgaaccagaa
acccctcgtcctcggcggaaggggaagggaaaagggaggaagaaagggcgaggtcgcaag
gggaagggcaggaaaaagaacaaggaaatttggacctcaagtccacctcctgactccgca
gagaaccagacctccactgacatccccaagacagagactccagctccaaatctgcctccg
acccccacgcctttggtcgtcacctccactgtgactactggactcaatgccacgatccta
gagaggagcttggaccctgacagtggaaccgagctggggaccctggagaccaaggcagcc
agggaggatgaagaaggagatgattccaccatgggccctgacttccgggcagcagaatat
ccatctcggactcagttccagatctttcctggtgctggagagaaaggagcaaaaggagag
cccgcagtgattgaaaaggggcagcagtttgagggacctccaggagccccaggaccccaa
ggggtggttggcccctcaggccctcccggccccccaggattccctggcgaccctggtcca
ccgggccctgctggcctcccaggaatccccggcattgatgggatccgaggcccaccgggc
actgtgatcatgatgccgttccagtttgcaggcggctcctttaaaggccccccagtctca
ttccagcaggcccaggctcaggcagttctgcagcagactcagctctctatgaaaggcccc
cctggtccagtggggctcactgggcgcccaggccctgtgggtctccccgggcatccaggt
ctgaaaggagaggagggagcagaagggccacagggtccccgaggcctgcagggacctcat
ggaccccctggccgagtgggcaagatgggccgccctggagcagatggagctcggggcctc
ccaggggacactggacctaagggtgatcgtggcttcgatggcctccctgggctgcctggt
gagaagggccaaaggggtgactttggccatgtggggcaacccggtcccccaggagaggat
ggtgagaggggagcagagggacctccagggcccactggccaggctggggagccgggtcca
cgaggactgcttggccccagaggctctcctggccccacgggtcgcccgggtgtgactgga
attgatggtgctcctggtgccaaaggcaatgtgggtcctccaggagaaccaggccctccg
ggacagcagggaaaccatgggtcccagggactccccggtccccagggactcattggcact
cctggggagaagggtccccctggaaacccaggaattccaggcctcccaggatccgatggc
cctctgggtcacccaggacatgagggccccacgggagagaaaggggctcagggtccacca
gggtcggcaggccctccgggctatcctggacctcggggagtgaagggcacttcaggcaac
cggggcctccagggggagaaaggcgagaagggagaggacggcttcccaggcttcaagggc
gatgtggggctcaaaggtgatcaggggaaacccggagctccaggtccccggggagaggat
ggtcctgaggggccgaaggggcaggcggggcaggctggcgaggaggggcccccaggctca
gctggggagaagggcaagcttggggtgccaggcctcccaggttatccaggacgccctgga
cctaagggatctattggatttcccggtcccctgggacccataggagagaaagggaagtcg
ggaaagacagggcagccaggcctggaaggagagcggggaccaccaggttcccgtggagag
agggggcaaccgggtgccacagggcaaccaggccccaagggcgatgtgggccaggatgga
gcccctgggatccctggagaaaagggcctccctggtctgcaaggccctccaggattccct
gggccaaagggcccccctggtcaccaaggtaaagatgggcgaccagggcaccctggacag
agaggagaactgggcttccaaggtcagacaggcccgcctggaccagctggtgtcttaggc
cctcagggaaagacaggagaagtgggacctctaggtgaaagggggcctccaggcccccct
ggacctcctggtgaacaaggtcttcctggcctggaaggcagagagggggccaagggggaa
ctgggaccaccaggaccccttgggaaagaagggccagctggactcaggggctttcccggc
cccaaagggggccctggggacccgggacctactggcttaaagggtgataagggcccccca
gggcccgtgggggccaatggctcccctggtgagcgcggtcctttgggcccagcaggaggc
attggacttcctggccaaagtggcagcgaaggccccgttggccctgcaggcaagaagggg
tcccggggagaacgtggcccccctggccccactggcaaagatgggatcccagggcccctg
gggcctctgggaccccctggagctgctgggccttctggcgaggaaggggacaagggggat
gtgggtgcccccggacacaaggggagtaaaggcgataaaggagacgcgggcccacctgga
caaccagggatacggggtcctgcaggacacccaggtcccccgggagcagacggggctcag
gggcgccggggacccccaggcctctttgggcagaaaggagatgacggagtcagaggcttt
gtgggggtgattggccctcctggactgcaggggctgccaggccctccgggagagaaaggg
gaggtcggagacgtcgggtccatgggtccccatggagctccaggtcctcggggtccccaa
ggccccactggatcagagggcactccagggctgcctggaggagttggtcagccaggcgcc
gtgggtgagaagggtgagcgaggggacgctggagacccagggcctccaggagccccaggc
atcccggggcccaagggagacattggtgaaaagggggactcaggcccatctggagctgct
ggacccccaggcaagaaaggtccccctggagaggatggagccaaagggagcgtgggcccc
acggggctgcccggagatctagggcccccaggagaccctggagtttcaggcatagatggt
tccccaggggagaagggagaccctggtgatgttgggggaccgggtccgcctggagcttct
ggggagcccggcgcccccgggccccccggcaagaggggtccttcaggccacatgggtcga
gaaggcagagaaggggagaaaggtgccaagggggagccaggtcctgatgggcccccaggg
aggacgggtccaatgggggctagagggccccctggacgtgtggggcctgagggtcttcga
gggatccctggccctgtgggtgaaccaggcctcctgggagcccctggacagatgggccct
cctggccccctggggccctctggcctcccagggctgaagggagacactggccccaagggg
gaaaagggccacattggattgatcggtctcattggccccccgggagaagctggtgagaaa
ggagatcaggggttgccaggcgtgcagggaccccctggtcccaagggagaccctggtccc
cctggtcccattggctctctgggccaccctgggcccccaggtgtggcgggccctctagga
cagaaaggctcaaaagggtctccggggtccatgggcccccgtggagacactggacctgca
ggcccaccaggccccccgggtgcccctgccgagctgcatgggctgcgcaggcgccggcgc
ttcgtcccagtcccgcttccagtcgtggagggcggcctggaggaggtgctggcctcgctc
acatcgctgagcttggagctggagcagctgcggcgtcctcccggcactgcggagcgcccg
ggcctcgtgtgccacgagctgcaccgcaaccacccgcacctgcctgatggggaatactgg
attgaccccaaccagggctgcgcgcgggactcgttcagggttttttgcaacttcacggcg
ggaggagagacctgcctctatcccgacaagaagtttgagatcgtgaaattggcctcctgg
tccaaggaaaagcctggaggctggtatagcacattccgtcgagggaagaagttctcctac
gtggacgccgacgggtccccagtgaatgtcgtgcagctgaacttcctgaaactgctgagt
gccacagctcgccagaacttcacctactcctgccagaatgcagctgcctggctggacgaa
gccacgggtgactacagccactccgcccgcttccttggcaccaatggagaggagctgtct
ttcaaccagacgacagcagccactgtcagcgtcccccaggatggctgccggctccggaaa
ggacagacgaagacccttttcgaattcagctcttctcgagcgggatttctgcccctgtgg
gatgtggcggccactgactttggccagacgaaccaaaagtttgggtttgaactgggcccc
gtctgcttcagcagctga

KEGG   Homo sapiens (human): 1297
Entry
1297              CDS       T01001                                 
Symbol
COL9A1, DJ149L1.1.2, EDM6, MED, STL4
Name
(RefSeq) collagen type IX alpha 1 chain
  KO
K08131  collagen type IX alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04820  Cytoskeleton in muscle cells
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H00476  Multiple epiphyseal dysplasia
H02072  Stickler syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1297 (COL9A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1297 (COL9A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1297 (COL9A1)
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1297 (COL9A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1297 (COL9A1)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1297 (COL9A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    1297 (COL9A1)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Others
   1297 (COL9A1)
SSDB
Motif
Pfam: Collagen Laminin_G_2 Laminin_G_3 Toxin_R_bind_N
Other DBs
NCBI-GeneID: 1297
NCBI-ProteinID: NP_001842
OMIM: 120210
HGNC: 2217
Ensembl: ENSG00000112280
UniProt: P20849
Structure
LinkDB
Position
6:complement(70215061..70303084)
AA seq 921 aa
MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLI
SQFQVDKAASRRAIQRVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMT
GSTLKKNWNIWQIQDSSGKEQVGIKINGQTQSVVFSYKGLDGSLQTAAFSNLSSLFDSQW
HKIMIGVERSSATLFVDCNRIESLPIKPRGPIDIDGFAVLGKLADNPQVSVPFELQWMLI
HCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPPGPPGVPGIDGIDGDRGPKGP
PGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPGSRGFPGRGIP
GPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRS
GYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGITGIVGDK
GEKGARGLDGEPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGARGIPGLPGPKGDTGLP
GVDGRDGIPGMPGTKGEPGKPGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQM
GNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGKLGSLGSPGLPGLPGPPGLP
GMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPGPKGSAGNPGEPGLRGPEGSR
GLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAPTDQHIKQVCMRVIQEHFAEMAAS
LKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEK
GERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGF
CEPASCTMQAGQRAFNKGPDP
NT seq 2766 nt   +upstreamnt  +downstreamnt
atgaagacctgctggaaaattccagttttcttctttgtgtgcagtttcctggaaccctgg
gcatctgcagctgtcaagcgtcgccccagattccctgtcaattccaattctaatggtgga
aatgaactctgtccaaagatcaggattggccaagatgacttaccagggtttgatctgatc
tctcagttccaggtagataaagcagcatctagaagagctatccagagagtagtgggatca
gctacattgcaggtggcttacaagttgggaaataatgtagacttcaggattccaactagg
aatttatatcccagtggactgcctgaagaatactccttcttgacgacgtttcgaatgact
ggaagcactctcaaaaagaactggaacatttggcagattcaggattcctctgggaaggag
caagttggcataaagattaatggccaaacacaatctgttgtattttcatacaagggactg
gatggaagtctccaaacagcagccttttcgaatttgtcctccttgtttgattcccagtgg
cataagatcatgattggcgtggagaggagtagtgctactctttttgttgactgcaacagg
attgaatctttacctataaagccaagaggcccaattgacattgatggctttgctgtgctg
ggaaaacttgcagataatcctcaagtttctgttccatttgaacttcaatggatgctgatc
cattgtgaccccctgcggcccaggagagaaacttgccatgagctgccagccagaataacg
cccagccagaccaccgacgagagaggtcccccgggtgagcagggtcctcccgggcctccg
ggcccccctggagttccaggcatcgatggcatcgacggtgaccgaggtcctaagggcccc
ccgggccccccgggtcctgcaggtgaaccgggaaagccaggagctccaggcaagcctggc
acacctggcgctgatggattaacaggacctgatggatcccctggctccattgggtcaaag
ggacaaaaaggagaacctggtgtgcctggatcgcgtggatttccaggccgtggtattcct
ggaccccctggtcctcctgggacagcaggactccctggagagcttggccgtgtaggacct
gttggtgaccctgggagaagaggaccacctggcccccctggccccccaggacccagagga
acaattggctttcatgatggagatccattgtgtcccaatgcctgtccaccaggtcgctca
ggatatccaggcctaccaggcatgaggggtcataaaggggctaaaggagaaattggtgaa
ccaggaagacaaggacacaagggtgaagaaggtgaccagggagaactcggagaagttgga
gctcaaggacctccaggagcccagggtttgcgaggcatcaccggcatagttggggacaaa
ggggaaaaaggtgctcggggcttagatggtgaacctgggcctcagggtcttcctggtgca
cctggtgatcaaggacagcgaggacctccaggagaagcaggtcccaaaggagatagaggg
gctgaaggtgctagaggaattcctggtctccctgggcccaaaggagacacgggtttgcca
ggtgtggatggccgtgatgggatccctggaatgcctggaacaaagggtgaaccaggaaaa
cctgggcctcctggtgatgcaggattgcaggggttaccaggtgtacctggaattcctggt
gcaaagggtgttgctggtgaaaagggtagcacaggtgctccagggaagcctggtcagatg
ggaaattcaggcaaaccgggccaacaggggcctccaggagaggtgggaccccgaggaccc
caggggcttcctggcagtagaggagaattaggaccagtgggatccccaggcctaccaggt
aaactgggttctctgggtagccctggcctccctggcttgcctgggccccctggacttcct
ggaatgaaaggtgacaggggtgtagtcggtgaaccgggtccaaagggtgaacagggtgcc
tctggtgaagaaggtgaagcaggagaaaggggggaacttggagatataggattacctggc
ccaaagggatctgcaggtaatcctggggaacctggcttgagagggcctgagggaagtcgg
gggcttcctggagtggaaggaccaagaggaccacctggaccccggggtgtgcagggagaa
cagggtgccaccggcctgcctggtgtccagggccctccgggtagagcaccgacagatcag
cacattaagcaggtttgcatgagagtcatacaagaacattttgctgagatggctgccagt
cttaagcgtccagactcaggtgccactgggcttcctggaaggcctggccctcctggtccc
cccggccctcctggagagaatggtttcccaggccagatgggaattcgtggccttccgggc
attaaggggccccctggtgctcttggtttgaggggacctaaaggtgacttgggagaaaag
ggggagcgtggccctccaggaagaggtcccaacggtttgcctggagctataggtctccca
ggtgacccaggccctgccagctatggcagaaatggccgagacggtgagcgaggcccccca
ggggtggcaggaattcctggagtgcctggacccccgggacctcctgggcttcccggtttc
tgtgagccagcctcctgcaccatgcaggctggtcagcgagcatttaacaaagggcctgac
ccttga

KEGG   Homo sapiens (human): 1298
Entry
1298              CDS       T01001                                 
Symbol
COL9A2, DJ39G22.4, EDM2, MED, STL5
Name
(RefSeq) collagen type IX alpha 2 chain
  KO
K08131  collagen type IX alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04820  Cytoskeleton in muscle cells
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H00476  Multiple epiphyseal dysplasia
H02072  Stickler syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1298 (COL9A2)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1298 (COL9A2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1298 (COL9A2)
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1298 (COL9A2)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1298 (COL9A2)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1298 (COL9A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    1298 (COL9A2)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Others
   1298 (COL9A2)
SSDB
Motif
Pfam: Collagen
Other DBs
NCBI-GeneID: 1298
NCBI-ProteinID: NP_001843
OMIM: 120260
HGNC: 2218
Ensembl: ENSG00000049089
UniProt: Q14055
Structure
LinkDB
Position
1:complement(40300489..40317286)
AA seq 689 aa
MAAATASPRSLLVLLQVVVLALAQIRGPPGERGPPGPPGPPGVPGSDGIDGDNGPPGKAG
PPGPKGEPGKAGPDGPDGKPGIDGLTGAKGEPGPMGIPGVKGQPGLPGPPGLPGPGFAGP
PGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPP
GMKGPPGLQGVKGHAGKRGILGDPGHQGKPGPKGDVGASGEQGIPGPPGPQGIRGYPGMA
GPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGITGPKGAT
GPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLP
GFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERGPVGQPGPQGRQGPKGEQGPPGIPGPQ
GLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPS
GDAGAPGVQGYPGPPGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEV
AVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNTGPKGKR
GEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGL
PGFCEPAACLGASAYASARLTEPGSIKGP
NT seq 2070 nt   +upstreamnt  +downstreamnt
atggccgccgctacggcctccccccgcagcctccttgttctcctccaggtggtagtgctc
gctctggcgcagattagaggtccaccgggagagcggggccccccgggtcccccgggaccg
ccgggagtgcctggatccgacggcatcgacggtgacaatgggccccctggaaaagctggc
cctccgggacccaagggcgagcctggcaaagctgggccagatgggccagacgggaagccc
gggattgatggtttaactggagccaagggggagcctggccccatggggatccctggagtc
aagggccagcccgggcttcctggtcctcctggccttccgggccctggttttgctggacct
cctgggcctcctggacctgttggcctccctggtgagattggaatccgaggccccaagggg
gaccctggaccagatggaccatcggggcccccaggaccccctgggaaacctggtcgcccg
ggaaccatccagggtctggaaggcagtgcggatttcctgtgtccaaccaactgtccaccc
ggaatgaaaggtcccccagggctgcagggagtgaaggggcatgcgggcaaacgcgggatt
ctgggtgatcctggccaccaggggaagccgggtcccaagggagatgtgggtgcctctgga
gagcaaggcatccctggaccaccgggtccccagggcatcaggggctacccaggcatggca
gggcccaagggagagacgggccctcatggatataaaggcatggtgggcgctatcggtgcc
actgggccaccgggtgaggaaggtcctaggggaccgccaggccgagctggggagaagggt
gacgagggcagcccaggtattcgtggaccccaggggatcacaggcccgaaaggagcaacg
ggccccccaggcatcaacggcaaggatgggaccccaggcacgcctggcatgaagggcagt
gcaggacaggcgggacagcccggaagtccaggccaccagggcctagcgggtgtgccaggc
cagcctgggacaaaaggaggccctggagaccagggtgagccgggcccgcagggccttcct
ggattctctggtccccctgggaaagagggagagccagggcctcgaggagaaattggtccc
cagggcatcatgggacagaagggtgaccaaggcgagaggggtccagtggggcaaccaggc
cctcagggaaggcagggccctaagggggagcagggcccccccggaattccagggccccaa
ggcttgccaggcgtcaaaggagacaagggctccccagggaagaccgggccccgcggcaaa
gtgggtgacccaggggtggccggcctccccggagagaaaggcgagaagggcgagtccggc
gagccggggcccaagggacagcaaggagtacgtggagaacccggctaccctggccccagc
ggggatgcgggcgccccaggggttcagggctaccctggtccccccggccctcgaggactg
gccgggaaccgaggcgtgccaggacagcccgggagacagggcgtggagggccgggatgcc
actgaccagcacatcgtggatgtggcgctgaagatgctgcaagagcaactggcagaggtc
gccgtgagtgccaagcgggaagccctgggtgcggtgggcatgatgggtcctccaggacct
cctgggccccctgggtacccaggcaagcagggcccccatgggcaccctggccctcggggc
gttcctggcatcgtgggagccgtgggtcagatcggcaacacggggcccaagggaaaacgt
ggagagaagggtgatccaggagaagtgggacgggggcaccccgggatgcctgggccccca
gggatcccaggactccctggccggcctggccaggcaatcaacggcaaggatggagatcga
gggtccccaggggctccaggagaggcaggtcgacctggcctgccaggccccgtggggctg
ccgggcttctgtgaacctgccgcctgccttggagcttcggcctatgcctctgcccgcctt
acagagcctggatccatcaaggggccttga

KEGG   Homo sapiens (human): 1299
Entry
1299              CDS       T01001                                 
Symbol
COL9A3, DJ885L7.4.1, EDM3, IDD, MED, STL6
Name
(RefSeq) collagen type IX alpha 3 chain
  KO
K08131  collagen type IX alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04820  Cytoskeleton in muscle cells
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H00476  Multiple epiphyseal dysplasia
H02072  Stickler syndrome
H02539  Intervertebral disc disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1299 (COL9A3)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1299 (COL9A3)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1299 (COL9A3)
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1299 (COL9A3)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1299 (COL9A3)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1299 (COL9A3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    1299 (COL9A3)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Others
   1299 (COL9A3)
SSDB
Motif
Pfam: Collagen
Other DBs
NCBI-GeneID: 1299
NCBI-ProteinID: NP_001844
OMIM: 120270
HGNC: 2219
Ensembl: ENSG00000092758
UniProt: Q14050
Structure
LinkDB
Position
20:62816213..62841159
AA seq 684 aa
MAGPRACAPLLLLLLLGELLAAAGAQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGP
PGPKGAPGKPGKPGEAGLPGLPGVDGLTGRDGPPGPKGAPGERGSLGPPGPPGLGGKGLP
GPPGEAGVSGPPGGIGLRGPPGPSGLPGLPGPPGPPGPPGHPGVLPEGATDLQCPSICPP
GPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPL
GPPGDRGPIGFRGPPGIPGAPGKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEP
GMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGRAGSKGEKGERGRAGELGEA
GPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQ
GLRGDVGDRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQ
GPNGTSGVQGVPGPPGPLGLQGVPGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQL
AAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGNQGD
RGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPG
ICDTSACQGAVLGGVGEKSGSRSS
NT seq 2055 nt   +upstreamnt  +downstreamnt
atggccgggccgcgcgcgtgcgccccgctcctgctcctgctcctgctcggggagcttctg
gcggccgccggggcgcagagagtgggactccccggcccccccggccccccagggccgccc
gggaagcccggccaggacggcattgacggagaagctggtcctccaggtctgcctgggccc
ccgggaccaaagggggccccaggaaagccggggaaaccaggagaggctgggctgccggga
ctgccgggtgtggatggtctgactggacgagatggaccccctggacccaagggtgcccct
ggggaacggggaagtctgggacccccggggccgcccgggctggggggcaaaggcctccct
ggaccccccggagaggcaggagtgagcggccccccaggtgggatcggcctccgcggcccc
ccgggaccttctggactccccggcctccctggtcccccaggacctcccggaccccctgga
cacccaggagtcctccctgaaggcgctactgaccttcagtgcccaagtatctgcccgcca
ggtcccccagggccccctggaatgccagggttcaagggacccactggctacaaaggcgag
cagggggaagtcggcaaggacggcgagaagggtgaccctggcccccctgggcccgccggc
ctcccgggcagcgtggggctgcagggcccccggggattacgaggactgccagggccactc
gggccccctggggaccggggtcccattgggttccgagggccgcctgggatcccaggagcg
cctgggaaagcgggtgaccgaggcgagaggggcccagaagggttccgcggccccaagggt
gacctcggcagacctggtcccaagggaacccccggagtggccgggccaagcggagagccg
ggcatgccgggcaaggacggccagaatggcgtgccaggactcgatggccagaagggagag
gctggtcgcaacggtgctccgggagagaagggccccaacgggctgccgggcctccctgga
cgagcggggtccaaaggcgagaagggagaacggggcagagctggggagctgggtgaggcc
ggcccctctggagagccaggcgtccctggagatgctggcatgcctggggagcgcggtgag
gctggccaccggggctcagcgggggccctcggcccacaaggccctcccggagcccctggt
gtccgaggcttccagggccagaagggcagcatgggagaccccggccttccaggcccccag
ggcctccgaggtgacgtgggcgaccggggtccgggaggtgccgcaggccctaagggagac
cagggtattgcaggttccgacggtcttcctggggataaaggagaactgggtcccagcggc
ctggtcggacccaaaggagagtctggcagtcgaggggagctgggccccaaaggcacccag
ggtcccaacggcaccagcggtgttcagggtgtccccgggccccccggtcctctgggcctg
cagggcgtcccgggtgttcctggcatcacggggaagccgggagttccggggaaggaggcc
agcgagcagcgcatcagggagctgtgtggggggatgatcagcgaacaaattgcacagtta
gccgcgcacctaaggaagcctttggcacccgggtccattggtcggcccggtccagctggc
ccccctgggcccccaggacccccaggctccattggtcaccctggcgctcgaggaccccct
ggataccgcggtcccactggggagctgggagaccccgggcccagaggaaaccagggtgac
agaggagacaaaggcgcggcaggagcagggctggacgggcctgaaggagaccaggggccc
caaggaccccaaggcgtgcccggcaccagcaaggacggccaggacggtgctcccggcgag
cctgggcctcccggagatcctgggcttccaggtgccattggggcccaggggacaccgggg
atctgcgacacctcagcctgccaaggagccgtgttaggaggggtcggggagaaatcaggc
tctcgaagctcataa

KEGG   Homo sapiens (human): 1301
Entry
1301              CDS       T01001                                 
Symbol
COL11A1, CO11A1, COLL6, DFNA37, STL2
Name
(RefSeq) collagen type XI alpha 1 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04974  Protein digestion and absorption
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H00604  Deafness, autosomal dominant
H00805  Vitreoretinal degeneration
H02072  Stickler syndrome
H02080  Fibrochondrogenesis
H02081  Marshall syndrome
H02539  Intervertebral disc disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1301 (COL11A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1301 (COL11A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1301 (COL11A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1301 (COL11A1)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_3 Laminin_G_1
Other DBs
NCBI-GeneID: 1301
NCBI-ProteinID: NP_001845
OMIM: 120280
HGNC: 2186
Ensembl: ENSG00000060718
UniProt: P12107 Q59HB5
LinkDB
Position
1:complement(102876473..103108522)
AA seq 1806 aa
MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGF
CTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYN
EHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIV
DCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYS
PDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEA
NIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLY
ENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHG
AYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLP
GADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRP
GPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDR
GFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTP
GAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKP
GLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEK
GEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVP
GLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKP
GPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKT
GPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKD
GPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQ
GPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSK
GDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQ
GLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEA
GNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPP
GEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAK
GEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLP
GLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPP
GPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEG
MQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDG
EYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKL
LSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDE
EMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVG
PVCFLG
NT seq 5421 nt   +upstreamnt  +downstreamnt
atggagccgtggtcctctaggtggaaaacgaaacggtggctctgggatttcaccgtaaca
accctcgcattgaccttcctcttccaagctagagaggtcagaggagctgctccagttgat
gtactaaaagcactagattttcacaattctccagagggaatatcaaaaacaacgggattt
tgcacaaacagaaagaattctaaaggctcagatactgcttacagagtttcaaagcaagca
caactcagtgccccaacaaaacagttatttccaggtggaactttcccagaagacttttca
atactatttacagtaaaaccaaaaaaaggaattcagtctttccttttatctatatataat
gagcatggtattcagcaaattggtgttgaggttgggagatcacctgtttttctgtttgaa
gaccacactggaaaacctgccccagaagactatcccctcttcagaactgttaacatcgct
gacgggaagtggcatcgggtagcaatcagcgtggagaagaaaactgtgacaatgattgtt
gattgtaagaagaaaaccacgaaaccacttgatagaagtgagagagcaattgttgatacc
aatggaatcacggtttttggaacaaggattttggatgaagaagtttttgagggggacatt
cagcagtttttgatcacaggtgatcccaaggcagcatatgactactgtgagcattatagt
ccagactgtgactcttcagcacccaaggctgctcaagctcaggaacctcagatagatgag
tatgcaccagaggatataatcgaatatgactatgagtatggggaagcagagtataaagag
gctgaaagtgtaacagagggacccactgtaactgaggagacaatagcacagacggaggca
aacatcgttgatgattttcaagaatacaactatggaacaatggaaagttaccagacagaa
gctcctaggcatgtttctgggacaaatgagccaaatccagttgaagaaatatttactgaa
gaatatctaacgggagaggattatgattcccagaggaaaaattctgaggatacactatat
gaaaacaaagaaatagacggcagggattctgatcttctggtagatggagatttaggcgaa
tatgatttttatgaatataaagaatatgaagataaaccaacaagcccccctaatgaagaa
tttggtccaggtgtaccagcagaaactgatattacagaaacaagcataaatggccatggt
gcatatggagagaaaggacagaaaggagaaccagcagtggttgagcctggtatgcttgtc
gaaggaccaccaggaccagcaggacctgcaggtattatgggtcctccaggtctacaaggc
cccactggaccccctggtgaccctggcgataggggccccccaggacgtcctggcttacca
ggggctgatggtctacctggtcctcctggtactatgttgatgttaccgttccgttatggt
ggtgatggttccaaaggaccaaccatctctgctcaggaagctcaggctcaagctattctt
cagcaggctcggattgctctgagaggcccacctggcccaatgggtctaactggaagacca
ggtcctgtgggggggcctggttcatctggggccaaaggtgagagtggtgatccaggtcct
cagggccctcgaggcgtccagggtccccctggtccaacgggaaaacctggaaaaaggggt
cgtccaggtgcagatggaggaagaggaatgccaggagaacctggggcaaagggagatcga
gggtttgatggacttccgggtctgccaggtgacaaaggtcacaggggtgaacgaggtcct
caaggtcctccaggtcctcctggtgatgatggaatgaggggagaagatggagaaattgga
ccaagaggtcttccaggtgaagctggcccacgaggtttgctgggtccaaggggaactcca
ggagctccagggcagcctggtatggcaggtgtagatggccccccaggaccaaaagggaac
atgggtccccaaggggagcctgggcctccaggtcaacaagggaatccaggacctcagggt
cttcctggtccacaaggtccaattggtcctcctggtgaaaaaggaccacaaggaaaacca
ggacttgctggacttcctggtgctgatgggcctcctggtcatcctgggaaagaaggccag
tctggagaaaagggggctctgggtccccctggtccacaaggtcctattggatacccgggc
ccccggggagtaaagggagcagatggtgtcagaggtctcaagggatctaaaggtgaaaag
ggtgaagatggttttccaggattcaaaggtgacatgggtctaaaaggtgacagaggagaa
gttggtcaaattggcccaagaggggaagatggccctgaaggacccaaaggtcgagcaggc
ccaactggagacccaggtccttcaggtcaagcaggagaaaagggaaaacttggagttcca
ggattaccaggatatccaggaagacaaggtccaaagggttccactggattccctgggttt
ccaggtgccaatggagagaaaggtgcacggggagtagctggcaaaccaggccctcggggt
cagcgtggtccaacgggtcctcgaggttcaagaggtgcaagaggtcccactgggaaacct
gggccaaagggcacttcaggtggcgatggccctcctggccctccaggtgaaagaggtcct
caaggacctcagggtccagttggattccctggaccaaaaggccctcctggaccacctggg
aaggatgggctgccaggacaccctgggcaacgtggggagactggatttcaaggcaagacc
ggccctcctgggccagggggagtggttggaccacagggaccaaccggtgagactggtcca
ataggggaacgtgggcatcctggccctcctggccctcctggtgagcaaggtcttcctggt
gctgcaggaaaagaaggtgcaaagggtgatccaggtcctcaaggtatctcagggaaagat
ggaccagcaggattacgtggtttcccaggggaaagaggtcttcctggagctcagggtgca
cctggactgaaaggaggggaaggtccccagggcccaccaggtccagttggctcaccagga
gaacgtgggtcagcaggtacagctggcccaattggtttaccagggcgcccgggacctcag
ggtcctcctggtccagctggagagaaaggtgctcctggagaaaaaggtccccaagggcct
gcagggagagatggagttcaaggtcctgttggtctcccagggccagctggtcctgccggc
tcccctggggaagacggagacaagggtgaaattggtgagccgggacaaaaaggcagcaag
ggtgacaagggagaaaatggccctcccggtcccccaggtcttcaaggaccagttggtgcc
cctggaattgctggaggtgatggtgaaccaggtcctagaggacagcaggggatgtttggg
caaaaaggtgatgagggtgccagaggcttccctggacctcctggtccaataggtcttcag
ggtctgccaggcccacctggtgaaaaaggtgaaaatggggatgttggtcccatggggcca
cctggtcctccaggcccaagaggccctcaaggtcccaatggagctgatggaccacaagga
cccccagggtctgttggttcagttggtggtgttggagaaaagggtgaacctggagaagca
gggaacccagggcctcctggggaagcaggtgtaggcggtcccaaaggagaaagaggagag
aaaggggaagctggtccacctggagctgctggacctccaggtgccaaggggccaccaggt
gatgatggccctaagggtaacccgggtcctgttggttttcctggagatcctggtcctcct
ggggaacctggccctgcaggtcaagatggtgttggtggtgacaagggtgaagatggagat
cctggtcaaccgggtcctcctggcccatctggtgaggctggcccaccaggtcctcctgga
aaacgaggtcctcctggagctgcaggtgcagagggaagacaaggtgaaaaaggtgctaag
ggggaagcaggtgcagaaggtcctcctggaaaaaccggcccagtcggtcctcagggacct
gcaggaaagcctggtccagaaggtcttcggggcatccctggtcctgtgggagaacaaggt
ctccctggagctgcaggccaagatggaccacctggtcctatgggacctcctggcttacct
ggtctcaaaggtgaccctggctccaagggtgaaaagggacatcctggtttaattggcctg
attggtcctccaggagaacaaggggaaaaaggtgaccgagggctccctggaactcaagga
tctccaggagcaaaaggggatgggggaattcctggtcctgctggtcccttaggtccacct
ggtcctccaggtttaccaggtcctcaaggcccaaagggtaacaaaggctctactggaccc
gctggccagaaaggtgacagtggtcttccagggcctcctgggtctccaggtccacctggt
gaagtcattcagcctttaccaatcttgtcctccaaaaaaacgagaagacatactgaaggc
atgcaagcagatgcagatgataatattcttgattactcggatggaatggaagaaatattt
ggttccctcaattccctgaaacaagacattgagcatatgaaatttccaatgggtactcag
accaatccagcccgaacttgtaaagacctgcaactcagccatcctgacttcccagatggt
gaatattggattgatcctaaccaaggttgctcaggagattccttcaaagtttactgtaat
ttcacatctggtggtgagacttgcatttatccagacaaaaaatctgagggagtaagaatt
tcatcatggccaaaggagaaaccaggaagttggtttagtgaatttaagaggggaaaactg
ctttcatacttagatgttgaaggaaattccatcaatatggtgcaaatgacattcctgaaa
cttctgactgcctctgctcggcaaaatttcacctaccactgtcatcagtcagcagcctgg
tatgatgtgtcatcaggaagttatgacaaagcacttcgcttcctgggatcaaatgatgag
gagatgtcctatgacaataatccttttatcaaaacactgtatgatggttgtgcgtccaga
aaaggctatgaaaagactgtcattgaaatcaatacaccaaaaattgatcaagtacctatt
gttgatgtcatgatcaatgactttggtgatcagaatcagaagttcggatttgaagttggt
cctgtttgttttcttggctaa

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