KEGG   Homo sapiens (human): 1277Help
Entry
1277              CDS       T01001                                 

Gene name
COL1A1, EDSARTH1, EDSC, OI1, OI2, OI3, OI4
Definition
(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
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
Disease
H00506  Osteogenesis imperfecta
H00613  Infantile cortical hyperostosis
H01593  Osteoporosis
H02243  Ehlers-Danlos syndrome arthrochalasia type
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)
 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)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1277 (COL1A1)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1277 (COL1A1)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    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 / Haparin
  Extracellular matrix molecules
   1277 (COL1A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Collagen COLFI VWC
Motif
Other DBs
NCBI-GeneID: 1277
NCBI-ProteinID: NP_000079
OMIM: 120150
HGNC: 2197
Ensembl: ENSG00000108821
Vega: OTTHUMG00000148674
Pharos: P02452(Tbio)
UniProt: P02452
LinkDB All DBs
Structure
PDB: 

Position
17q21.33
AA seq 1464 aa AA seqDB search
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 NT seq  +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): 1278Help
Entry
1278              CDS       T01001                                 

Gene name
COL1A2, EDSARTH2, EDSCV, OI4
Definition
(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
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
Disease
H00506  Osteogenesis imperfecta
H01593  Osteoporosis
H02241  Ehlers-Danlos syndrome cardiac valvular type
H02243  Ehlers-Danlos syndrome arthrochalasia type
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)
 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)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1278 (COL1A2)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1278 (COL1A2)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    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 / Haparin
  Extracellular matrix molecules
   1278 (COL1A2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Collagen COLFI
Motif
Other DBs
NCBI-GeneID: 1278
NCBI-ProteinID: NP_000080
OMIM: 120160
HGNC: 2198
Ensembl: ENSG00000164692
Vega: OTTHUMG00000148675
Pharos: P08123(Tbio)
UniProt: P08123 A0A0S2Z3H5
LinkDB All DBs
Position
7q21.3
AA seq 1366 aa AA seqDB search
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 NT seq  +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): 1281Help
Entry
1281              CDS       T01001                                 

Gene name
COL3A1, EDS4A, EDSVASC, PMGEDSV
Definition
(RefSeq) collagen type III alpha 1 chain
  KO
K19720  collagen, type III, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04611  Platelet activation
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
Disease
H02242  Ehlers-Danlos syndrome vascular type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 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
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1281 (COL3A1)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    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 / Haparin
  Extracellular matrix molecules
   1281 (COL3A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Collagen COLFI VWC
Motif
Other DBs
NCBI-GeneID: 1281
NCBI-ProteinID: NP_000081
OMIM: 120180
HGNC: 2201
Ensembl: ENSG00000168542
Vega: OTTHUMG00000132648
Pharos: P02461(Tbio)
UniProt: P02461
LinkDB All DBs
Structure
PDB: 

Position
2q32.2
AA seq 1466 aa AA seqDB search
MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSV
LCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRN
GDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPG
PPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPG
ERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGENGAPGPMG
PRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPG
SNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAG
ANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPG
AAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPG
SPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPG
GPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPG
PKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAG
TPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKG
EGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPG
VAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPG
KDGPPGPAGNTGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAG
PPGMPGPRGSPGPQGVKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDG
LPGRDGSPGGKGDRGENGSPGAPGAPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAG
SRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRG
PVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGV
GAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPAR
NCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSS
AEKKHVWFGESMDGGFQFSYGNPELPEDVLDVQLAFLRLLSSRASQNITYHCKNSIAYMD
QASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLP
IVDIAPYDIGGPDQEFGVDVGPVCFL
NT seq 4401 nt NT seq  +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
ggcaatcctgaacttcctgaagatgtccttgatgtgcagctggcattccttcgacttctc
tccagccgagcttcccagaacatcacatatcactgcaaaaatagcattgcatacatggat
caggccagtggaaatgtaaagaaggccctgaagctgatggggtcaaatgaaggtgaattc
aaggctgaaggaaatagcaaattcacctacacagttctggaggatggttgcacgaaacac
actggggaatggagcaaaacagtctttgaatatcgaacacgcaaggctgtgagactacct
attgtagatattgcaccctatgacattggtggtcctgatcaagaatttggtgtggacgtt
ggccctgtttgctttttataa

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