KEGG   Homo sapiens (human): 1303Help
Entry
1303              CDS       T01001                                 

Gene name
COL12A1, BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2
Definition
(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
  Collagen family
   1303 (COL12A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: fn3 VWA VWA_2 Collagen Interfer-bind Pur_ac_phosph_N DUF2369 DUF4998 VWA_3 Copine DUF4992 Toxin_R_bind_N
Motif
Other DBs
NCBI-GeneID: 1303
NCBI-ProteinID: NP_004361
OMIM: 120320
HGNC: 2188
Ensembl: ENSG00000111799
Vega: OTTHUMG00000015051
Pharos: Q99715(Tbio)
UniProt: Q99715
Position
6q13-q14.1
AA seq 3063 aa AA seqDB 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  +upstreamnt  +downstreamnt
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

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (44)   
   KEGG ORTHOLOGY (1)   
   RefGene (27)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (8)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (32)   
   RefSeq(nuc) (6)   
   GenBank (13)   
   EMBL (13)   
Protein domain (12)   
   Pfam (12)   
All databases (105)   

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