Homo sapiens (human): 1303
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Entry
1303 CDS
T01001
Symbol
COL12A1, BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2
Name
(RefSeq) collagen type XII alpha 1 chain
KO
K08132
collagen type XII alpha
Organism
hsa
Homo sapiens (human)
Pathway
hsa04974
Protein digestion and absorption
Disease
H01778
Ullrich disease
H02247
Ehlers-Danlos syndrome myopathic type
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09150 Organismal Systems
09154 Digestive system
04974 Protein digestion and absorption
1303 (COL12A1)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
00535 Proteoglycans [BR:
hsa00535
]
1303 (COL12A1)
Proteoglycans [BR:
hsa00535
]
Extracellular matrix (ECM) proteoglycans
Others
1303 (COL12A1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
fn3
VWA
Ig_DSCAM-DSCAML_C
VWA_2
Pur_ac_phosph_N
Collagen
Interfer-bind
DUF4998
Copine
Toxin_R_bind_N
Motif
Other DBs
NCBI-GeneID:
1303
NCBI-ProteinID:
NP_004361
OMIM:
120320
HGNC:
2188
Ensembl:
ENSG00000111799
UniProt:
Q99715
LinkDB
All DBs
Position
6:complement(75084326..75206053)
Genome browser
AA seq
3063 aa
AA seq
DB search
MRSRLPPALAALGAALLLSSIEAEVDPPSDLNFKIIDENTVHMSWAKPVDPIVGYRITVD
PTTDGPTKEFTLSASTTETLLSELVPETEYVVTITSYDEVEESVPVIGQLTIQTGSSTKP
VEKKPGKTEIQKCSVSAWTDLVFLVDGSWSVGRNNFKYILDFIAALVSAFDIGEEKTRVG
VVQYSSDTRTEFNLNQYYQRDELLAAIKKIPYKGGNTMTGDAIDYLVKNTFTESAGARVG
FPKVAIIITDGKSQDEVEIPARELRNVGVEVFSLGIKAADAKELKQIASTPSLNHVFNVA
NFDAIVDIQNEIISQVCSGVDEQLGELVSGEEVVEPPSNLIAMEVSSKYVKLNWNPSPSP
VTGYKVILTPMTAGSRQHALSVGPQTTTLSVRDLSADTEYQISVSAMKGMTSSEPISIME
KTQPMKVQVECSRGVDIKADIVFLVDGSYSIGIANFVKVRAFLEVLVKSFEISPNRVQIS
LVQYSRDPHTEFTLKKFTKVEDIIEAINTFPYRGGSTNTGKAMTYVREKIFVPSKGSRSN
VPKVMILITDGKSSDAFRDPAIKLRNSDVEIFAVGVKDAVRSELEAIASPPAETHVFTVE
DFDAFQRISFELTQSICLRIEQELAAIKKKAYVPPKDLSFSEVTSYGFKTNWSPAGENVF
SYHITYKEAAGDDEVTVVEPASSTSVVLSSLKPETLYLVNVTAEYEDGFSIPLAGEETTE
EVKGAPRNLKVTDETTDSFKITWTQAPGRVLRYRIIYRPVAGGESREVTTPPNQRRRTLE
NLIPDTKYEVSVIPEYFSGPGTPLTGNAATEEVRGNPRDLRVSDPTTSTMKLSWSGAPGK
VKQYLVTYTPVAGGETQEVTVRGDTTNTVLQGLKEGTQYALSVTALYASGAGDALFGEGT
TLEERGSPQDLVTKDITDTSIGAYWTSAPGMVRGYRVSWKSLYDDVDTGEKNLPEDAIHT
MIENLQPETKYRISVFATYSSGEGEPLTGDATTELSQDSKTLKVDEETENTMRVTWKPAP
GKVVNYRVVYRPHGRGKQMVAKVPPTVTSTVLKRLQPQTTYDITVLPIYKMGEGKLRQGS
GTTASRFKSPRNLKTSDPTMSSFRVTWEPAPGEVKGYKVTFHPTGDDRRLGELVVGPYDN
TVVLEELRAGTTYKVNVFGMFDGGESSPLVGQEMTTLSDTTVMPILSSGMECLTRAEADI
VLLVDGSWSIGRANFRTVRSFISRIVEVFDIGPKRVQIALAQYSGDPRTEWQLNAHRDKK
SLLQAVANLPYKGGNTLTGMALNFIRQQNFRTQAGMRPRARKIGVLITDGKSQDDVEAPS
KKLKDEGVELFAIGIKNADEVELKMIATDPDDTHAYNVADFESLSRIVDDLTINLCNSVK
GPGDLEAPSNLVISERTHRSFRVSWTPPSDSVDRYKVEYYPVSGGKRQEFYVSRMETSTV
LKDLKPETEYVVNVYSVVEDEYSEPLKGTEKTLPVPVVSLNIYDVGPTTMHVQWQPVGGA
TGYILSYKPVKDTEPTRPKEVRLGPTVNDMQLTDLVPNTEYAVTVQAVLHDLTSEPVTVR
EVTLPLPRPQDLKLRDVTHSTMNVFWEPVPGKVRKYIVRYKTPEEDVKEVEVDRSETSTS
LKDLFSQTLYTVSVSAVHDEGESPPVTAQETTRPVPAPTNLKITEVTSEGFRGTWDHGAS
DVSLYRITWAPFGSSDKMETILNGDENTLVFENLNPNTIYEVSITAIYPDESESDDLIGS
ERTLPILTTQAPKSGPRNLQVYNATSNSLTVKWDPASGRVQKYRITYQPSTGEGNEQTTT
IGGRQNSVVLQKLKPDTPYTITVSSLYPDGEGGRMTGRGKTKPLNTVRNLRVYDPSTSTL
NVRWDHAEGNPRQYKLFYAPAAGGPEELVPIPGNTNYAILRNLQPDTSYTVTVVPVYTEG
DGGRTSDTGRTLMRGLARNVQVYNPTPNSLDVRWDPAPGPVLQYRVVYSPVDGTRPSESI
VVPGNTRMVHLERLIPDTLYSVNLVALYSDGEGNPSPAQGRTLPRSGPRNLRVFGETTNS
LSVAWDHADGPVQQYRIIYSPTVGDPIDEYTTVPGRRNNVILQPLQPDTPYKITVIAVYE
DGDGGHLTGNGRTVGLLPPQNIHISDEWYTRFRVSWDPSPSPVLGYKIVYKPVGSNEPME
AFVGEMTSYTLHNLNPSTTYDVNVYAQYDSGLSVPLTDQGTTLYLNVTDLKTYQIGWDTF
CVKWSPHRAATSYRLKLSPADGTRGQEITVRGSETSHCFTGLSPDTDYGVTVFVQTPNLE
GPGVSVKEHTTVKPTEAPTEPPTPPPPPTIPPARDVCKGAKADIVFLTDASWSIGDDNFN
KVVKFIFNTVGGFDEISPAGIQVSFVQYSDEVKSEFKLNTYNDKALALGALQNIRYRGGN
TRTGKALTFIKEKVLTWESGMRKNVPKVLVVVTDGRSQDEVKKAALVIQQSGFSVFVVGV
ADVDYNELANIASKPSERHVFIVDDFESFEKIEDNLITFVCETATSSCPLIYLDGYTSPG
FKMLEAYNLTEKNFASVQGVSLESGSFPSYSAYRIQKNAFVNQPTADLHPNGLPPSYTII
LLFRLLPETPSDPFAIWQITDRDYKPQVGVIADPSSKTLSFFNKDTRGEVQTVTFDTEEV
KTLFYGSFHKVHIVVTSKSVKIYIDCYEIIEKDIKEAGNITTDGYEILGKLLKGERKSAA
FQIQSFDIVCSPVWTSRDRCCDIPSRRDEGKCPAFPNSCTCTQDSVGPPGPPGPAGGPGA
KGPRGERGISGAIGPPGPRGDIGPPGPQGPPGPQGPNGLSIPGEQGRQGMKGDAGEPGLP
GRTGTPGLPGPPGPMGPPGDRGFTGKDGAMGPRGPPGPPGSPGSPGVTGPSGKPGKPGDH
GRPGPSGLKGEKGDRGDIASQNMMRAVARQVCEQLISGQMNRFNQMLNQIPNDYQSSRNQ
PGPPGPPGPPGSAGARGEPGPGGRPGFPGTPGMQGPPGERGLPGEKGERGTGSSGPRGLP
GPPGPQGESRTGPPGSTGSRGPPGPPGRPGNSGIRGPPGPPGYCDSSQCASIPYNGQGYP
GSG
NT seq
9192 nt
NT seq
+upstream
nt +downstream
nt
atgcggagtaggcttcccccagcgcttgccgccctgggcgcggccctgctcctgtcttcc
attgaggcagaagttgacccaccttcagacttgaattttaaaattatagatgaaaatact
gttcatatgtcatgggcaaaaccagttgatccaattgtgggttacagaataacggtggac
cctacaacggatgggcctactaaagaatttaccctttcagctagtaccactgaaacttta
ttgtcagaacttgtacctgaaacagagtatgtggtgacaataacttcatatgatgaagta
gaagaaagtgtaccagttataggacaactaacaattcaaacaggtagttcgacaaagcca
gtggagaagaaacctggaaaaaccgagatacaaaaatgctctgtcagtgcctggactgat
ttggttttcctcgtggatggctcttggagtgtgggaagaaataatttcaagtacatttta
gacttcattgctgctcttgtgtctgcttttgacattggggaagagaagacaagagttgga
gttgttcaatacagctctgataccaggactgaatttaacttaaatcagtactaccaaagg
gatgaacttcttgctgcaataaaaaaaattccatataaaggtggcaacacaatgacaggg
gatgccattgattatttagttaaaaatactttcacggaatctgctggggcaagagttggc
tttcctaaagtggcaattattattacggatggaaaatcccaggatgaagtggaaattcca
gcaagagagcttcgtaatgttggagttgaagttttctccttgggcattaaagctgcagat
gcaaaagaactcaaacaaattgcctccacaccttcactgaaccatgttttcaatgtggcc
aactttgatgcaattgtggatattcagaatgagatcatctcccaggtgtgctcaggtgtt
gatgaacaacttggtgaattggttagtggagaagaagttgttgagcctccttcaaatttg
attgccatggaagtctcttcaaaatatgttaagctaaattggaatccatctcctagtcca
gtgactggctacaaagtcatcctcacaccaatgactgcaggaagccgacagcacgctctg
agtgtggggcctcagacaaccacgctcagtgttcgcgacctctcagcagacacagaatac
cagatcagtgtttccgccatgaagggaatgacatccagtgaacccatttcaataatggag
aagactcagccaatgaaagttcaagtggaatgctcacgtggtgtggatataaaagccgat
attgtgtttttggttgatggctcctatagcattgggattgcaaactttgttaaagttaga
gcctttttggaagttcttgtaaaaagttttgaaatttcaccaaatagggtccagattagt
cttgtgcaatacagccgggatcctcatactgagttcactttgaaaaaattcaccaaagtt
gaagatataattgaagcaataaacaccttcccttacagaggaggatctacaaatactggc
aaagcaatgacttatgtcagagagaaaatatttgtgcctagcaagggatcaagaagcaat
gtgccaaaggtcatgattcttatcacggatgggaaatcatcagatgctttcagagatcct
gcgataaaactgaggaattcagatgttgaaatctttgcagttggtgtgaaggatgccgtt
cgctcagaattggaagctattgcctctcctcctgcagagacccatgtgttcacagtggaa
gattttgatgcttttcagaggatatcttttgaactcacacagtctatctgccttagaatt
gagcaagaattggcagctataaagaagaaagcttacgtccctccaaaggatcttagtttt
tcagaagtgacttcttatggtttcaaaaccaactggtctccagctggagaaaatgttttt
tcatatcacatcacctacaaggaagcggctggggatgatgaggtcactgtggtggagcca
gcatcgagcaccagtgttgttctcagcagcctgaagccagagaccttgtatttggtcaat
gtgactgcggagtatgaggatggcttcagcattcccttagctggagaggagaccaccgaa
gaagtaaaaggagcacctcgaaacctaaaggtgacagatgagactacagatagtttcaaa
attacttggactcaagctccagggagagttttaagatatcgaattatatatagaccagtt
gctggtggagagagcagagaagttaccaccccacccaatcagaggaggagaacactggag
aacttgattccagacacgaaatatgaagtatctgtaattcctgaatatttctcaggacct
ggtactccattaactggaaatgcagccactgaagaagttagagggaatccaagagactta
agagtttctgaccctacgacgtctactatgaaattatcttggagtggggcaccaggaaaa
gtgaaacagtatctcgtcacatataccccagtggcagggggtgaaactcaagaggtcact
gtgaggggagatacaaccaatacggtgctgcagggattgaaggaagggacacaatacgcc
ttatctgtgacagccttgtatgcgtctggggctggagacgccctctttggtgaaggaaca
acacttgaagaacgtggttctcctcaagatttagttactaaagacatcactgacacatca
attggggcttattggacatctgctccaggaatggttcgcggttacagggtctcatggaaa
tcactttatgatgatgttgacactggagagaaaaatctgcctgaagatgcaattcatacg
atgatagaaaatctgcagccagagaccaaatacagaatttcagtatttgccacttacagc
agtggagaaggagaacctttgactggagatgccacaactgaattatctcaagattccaaa
accctgaaagtagatgaagaaacagaaaacacaatgagagttacatggaaaccagcacca
gggaaagtcgtcaactaccgtgttgtctatcgccctcatgggagagggaagcaaatggtt
gctaaggtgccccccacagtcacttcgacagtgttaaagcgacttcagccacagaccaca
tatgacatcacagttcttcctatttacaagatgggagaaggaaagcttaggcaaggatca
ggaacaacagcttctcggtttaagtctcctagaaacctcaaaacatctgacccaaccatg
tcaagcttccgagtgacttgggagcctgcccctggggaagtgaagggttataaagtcaca
ttccaccctacgggggatgacagaagactgggggagttagtggttggaccctatgacaac
acagttgttttggaggaacttagggctggtaccacctataaagtaaatgtttttggaatg
tttgatggaggagaaagctcaccacttgttggacaagaaatgacaaccctttccgacaca
actgttatgccaattttatcttctgggatggagtgtctcaccagagctgaggcagacatt
gtgttgctggtggatggatcatggagcatcggccgggcaaattttagaaccgtgaggagt
ttcatttctcgtattgtggaagtctttgacattggccccaaaagagtacaaattgctctt
gctcagtatagtggggatcccagaacagagtggcagttaaatgcacacagagacaagaag
agcttgttgcaagctgtggcaaacttgccgtacaaaggaggcaatactctcacaggcatg
gctttgaatttcattcgccaacagaacttcaggacccaagctggcatgagacctcgagct
cgaaaaattggtgtgctcattactgatggaaaatcacaagacgatgttgaagcaccttca
aagaaactcaaggatgagggagtggagctgtttgctattggtattaaaaatgctgatgaa
gtcgaattaaagatgattgcaactgatcctgatgatacccatgcatacaatgtggcagat
tttgagtcactctccaggatagtggatgatctcaccattaatttgtgtaacagtgtcaaa
ggtccaggtgatttggaagcaccttctaacttagttatttctgagcgaacccatcgttct
tttagagtgagctggacaccaccttctgacagtgtggatcgatataaggtggaatactat
ccagtttctggagggaaacgtcaagaattttatgtgagtcgaatggaaactagcacagtg
ctgaaagatctgaaacctgaaactgaatatgttgtcaatgtgtattctgtggtagaagat
gaatatagtgagcctctgaaggggacagaaaaaaccttgccagtgcctgtagtcagcctg
aatatttatgatgttggccctaccaccatgcatgtgcagtggcagcctgtgggaggagct
actggctacatcttgtcatacaaacctgttaaggacacagagccaacaagacccaaagag
gtgcgtttggggccaacagtgaatgacatgcagctgactgaccttgttcccaacacggag
tatgcagtcacagtccaggctgtcctgcacgacctcactagtgaacctgtcactgttcgg
gaagtcaccttgcctttacccagacctcaggatctgaaactcagagatgtgactcacagc
actatgaatgtcttttgggaacctgtgcctggaaaagtgcgtaaatatattgttcgatac
aaaacaccagaagaggatgtcaaagaggtagaggtggacagatcagagaccagcacttcc
ctcaaagacctcttctcacagaccttgtacacagtcagcgtttctgcagtacatgacgag
ggggagtctcctccagtgactgctcaagaaactacccgacccgtgccagccccaacaaac
ttaaagattactgaagtaacatcagagggtttcagagggacttgggatcatggagcttca
gatgtgtctctctacagaataacttgggcaccttttggaagctcagataagatggagacc
atcttaaatggagatgaaaacactttggtgttcgaaaacctgaaccccaacaccatctat
gaagtttccattactgccatctatcctgatgagtcagaaagtgatgacctgattggcagt
gagcgcacactgcctatcttaacaacacaagctcccaaaagtggcccacgaaaccttcaa
gtgtacaatgcaacatctaacagcctgactgttaagtgggatcctgctagtggtcgtgtg
cagaaatataggatcacttatcagccttccacaggggaaggcaatgagcaaacgaccaca
ataggaggacggcagaacagtgtggtcctgcagaaactgaagccagacactccttacact
atcaccgtatcctctctgtatcctgatggtgaaggaggtcggatgacgggaagaggcaag
accaaacctctaaacactgtaaggaacctgagagtgtatgacccttctaccagcaccttg
aatgtccgctgggaccatgcagagggaaatcctcgtcagtacaagctcttctatgcacca
gcagcaggtggtccagaggaactggtaccaatccccgggaataccaattatgccattctt
aggaatctgcagccagatacctcatacactgtgactgtagttcccgtttatactgaaggt
gatgggggacgcacatcagatactggaaggacattgatgagaggactggcaagaaatgtc
caagtatacaatcctacacctaacagcctcgatgttcgctgggaccctgctccaggacct
gtgctgcaatatcgcgttgtgtattctcctgtggatggcacaagaccctcagaatctata
gtagtgccaggaaacacgcgcatggtgcatctggagcggctgattccggacacactctat
tccgtgaaccttgtggctctgtactcggatggagagggaaatcccagccctgcccagggc
cgaacgctaccacgcagtggaccaaggaacctgagagtctttggtgaaacaaccaatagc
ctctcggtagcctgggatcatgctgatgggccagttcagcagtacaggatcatctattct
cccactgttggtgatccaattgatgaatataccacagtcccaggcagaagaaacaatgta
atactgcagcccctgcaacctgacactccatataaaattactgttattgctgtttatgaa
gatggagatggtggccatctaacaggaaatggaagaactgtgggactccttcctcctcag
aacatacacatctctgacgaatggtatacaagattcagggtgtcctgggatccttcacct
tctccagttcttggatataaaatagtatataagccagtgggttccaatgagcccatggaa
gcctttgttggagaaatgacatcatataccttacacaatctcaatcccagcaccacctac
gatgtgaatgtttatgctcaatatgattctggactcagtgtccccttgacagatcaaggc
actacattatatttaaatgtaacagatctgaaaacttaccagattgggtgggatacattc
tgtgtcaaatggtcacctcaccgggcagccacctcctacaggctaaaactaagccctgca
gatggaacaaggggacaagaaattacagtgcgtggatcagaaaccagtcactgcttcact
ggcctttcaccagacactgattatggtgtcactgtttttgtgcagacaccaaatctcgag
ggaccaggagtctctgttaaagaacataccactgtgaaaccaacagaagcccctacagag
ccacccacacctcctccccctcccaccattccaccagcccgggatgtatgcaaaggggcc
aaggcagatattgtgttcttgactgatgcctcctggagcattggggacgataattttaac
aaagttgtaaaattcatcttcaatactgtgggaggctttgatgaaatcagtcctgctggg
attcaggtttcatttgtgcaatacagcgatgaggtcaagtctgagttcaagctgaacacg
tacaatgacaaggccctagcccttggggccctccagaatattaggtacagaggaggaaac
acaagaacaggcaaggccctcacgtttatcaaggagaaagtcttgacttgggagagcggc
atgaggaagaatgtccctaaggtgttggttgtggtcacggacggtcggtcccaggatgag
gtcaagaaggcggctttggtcatccagcagtcagggttcagtgtctttgtagttggtgtg
gctgatgtcgactacaatgagcttgccaacattgccagcaaaccaagtgaacggcacgtg
ttcattgtggacgactttgaatcttttgagaagatcgaagacaatcttattacatttgtt
tgtgaaactgccacttcaagttgtcctctcatttatttggatggctacacctcaccaggt
tttaaaatgcttgaagcatacaacctgacagaaaagaattttgcttctgtacaaggagta
tctttggagtcagggtctttccccagctactcagcatacaggattcagaagaatgcgttt
gtgaatcagcctacagcagacctacacccaaatggactccctccttcatacacgattata
ttattattcagacttctcccagaaactcccagtgacccttttgcaatttggcaaatcaca
gacagagactacaaaccacaagttggagtgattgcagatccttctagcaagacgttatca
ttctttaacaaggatacaagaggcgaggtgcaaactgttacatttgacacagaagaagta
aagacattattttatggaagttttcacaaggttcatattgtagtgacctcaaaaagtgtt
aagatttacattgactgctatgaaattatagaaaaagacatcaaggaagctggaaatata
acaactgatggttatgaaattcttggaaaactccttaaaggggaaaggaaatcagccgca
ttccaaatccagagttttgacattgtctgcagtccagtgtggaccagtagagacagatgc
tgtgatattccctctaggagagatgagggaaaatgccctgcttttccaaattcttgcaca
tgtacacaggacagcgttggacctccaggacctccaggccctgcaggaggacctggtgct
aaaggtcccagaggtgaaagaggtatcagtggggcaattgggccccctggtcctcgtgga
gacataggtcctccaggcccccagggtcctccaggccctcagggacccaatggactctct
attccgggagagcaaggtcgccaagggatgaaaggtgatgctggagagccaggacttcca
ggccgaacaggaaccccaggattacctggcccaccaggaccaatgggacctccaggagac
agaggcttcactggaaaagacggtgcaatgggacccaggggcccaccagggccgccggga
agcccaggctccccaggagtcacaggaccaagtgggaagccaggaaaacctggagatcat
ggcagaccaggtccatctgggttgaaaggagaaaaaggtgataggggagacattgcttcc
cagaacatgatgcgagcagttgcaagacaagtctgtgaacaattgataagtggtcagatg
aacagattcaatcagatgctgaatcagattccaaatgattaccagtccagtcgcaaccag
ccaggcccgccgggtccaccgggacctcctggtagcgcaggagccagaggagaacctggg
cctggggggcggccaggcttcccgggcacaccagggatgcagggaccccctggggaacga
ggtttgccaggagagaaaggtgaaaggggtactggatcttcaggacctcgggggctgcct
ggccccccaggtccacaaggagaatccagaacaggtccaccagggtccacaggttcaaga
ggtccccctggcccccctggccgtcctggaaactcaggtatccgaggacccccaggtcct
cctggatactgtgattcttctcagtgtgccagcatcccatacaacgggcaaggctatcca
ggttccggctaa
DBGET
integrated database retrieval system
