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UniProtKB - Q99715 (COCA1_HUMAN)

Protein

Collagen alpha-1(XII) chain

Gene

COL12A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix.By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • collagen fibril organization Source: UniProtKB
  • endodermal cell differentiation Source: UniProtKB
  • growth plate cartilage chondrocyte morphogenesis Source: GO_Central
  • skeletal system development Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-8948216 Collagen chain trimerization
SIGNORiQ99715

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(XII) chain
Gene namesi
Name:COL12A1
Synonyms:COL12A1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000111799.20
HGNCiHGNC:2188 COL12A1
MIMi120320 gene
neXtProtiNX_Q99715

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Ullrich congenital muscular dystrophy 2 (UCMD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ullrich muscular dystrophy, a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.
See also OMIM:616470
Bethlem myopathy 2 (BTHLM2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Bethlem myopathy, a benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. BTHLM2 inheritance is autosomal dominant.
See also OMIM:616471
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0745461965R → C in BTHLM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200487396EnsemblClinVar.1
Natural variantiVAR_0745472334I → T in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052093EnsemblClinVar.1
Natural variantiVAR_0745482786G → D in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052094EnsemblClinVar.1

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation

Organism-specific databases

DisGeNETi1303
MalaCardsiCOL12A1
MIMi616470 phenotype
616471 phenotype
OpenTargetsiENSG00000111799
Orphaneti610 Bethlem myopathy
75840 Congenital muscular dystrophy, Ullrich type
PharmGKBiPA26704

Polymorphism and mutation databases

BioMutaiCOL12A1
DMDMi146345397

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000000578324 – 3063Collagen alpha-1(XII) chainAdd BLAST3040

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi700N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi798O-linked (Xyl...) (chondroitin sulfate) serineSequence analysis1
Glycosylationi889O-linked (Xyl...) (chondroitin sulfate) serineSequence analysis1
Glycosylationi981O-linked (Xyl...) (chondroitin sulfate) serineSequence analysis1
Glycosylationi1763N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2206N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2528N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi2679N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei29444-hydroxyprolineBy similarity1
Modified residuei29474-hydroxyprolineBy similarity1
Modified residuei29504-hydroxyprolineBy similarity1
Modified residuei29594-hydroxyprolineBy similarity1
Modified residuei29654-hydroxyprolineBy similarity1
Modified residuei29684-hydroxyprolineBy similarity1
Modified residuei29714-hydroxyprolineBy similarity1
Modified residuei29834-hydroxyprolineBy similarity1
Modified residuei30004-hydroxyprolineBy similarity1
Modified residuei30034-hydroxyprolineBy similarity1
Modified residuei30144-hydroxyprolineBy similarity1
Modified residuei30234-hydroxyprolineBy similarity1
Modified residuei30264-hydroxyprolineBy similarity1
Modified residuei30294-hydroxyprolineBy similarity1

Post-translational modificationi

The triple-helical tail is stabilized by disulfide bonds at each end.By similarity
Hydroxylation on proline residues within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates.By similarity
Isoform 1 O-glycosylation; glycosaminoglycan of chondroitin-sulfate type.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Proteoglycan

Proteomic databases

EPDiQ99715
MaxQBiQ99715
PaxDbiQ99715
PeptideAtlasiQ99715
PRIDEiQ99715
ProteomicsDBi78429
78430 [Q99715-2]
78431 [Q99715-4]

PTM databases

GlyConnecti1131
iPTMnetiQ99715
PhosphoSitePlusiQ99715

Expressioni

Tissue specificityi

Found in collagen I-containing tissues: both isoform 1 and isoform 2 appear in amnion, chorion, skeletal muscle, small intestine, and in cell culture of dermal fibroblasts, keratinocytes and endothelial cells. Only isoform 2 is found in lung, placenta, kidney and a squamous cell carcinoma cell line. Isoform 1 is also present in the corneal epithelial Bowman's membrane (BM) and the interfibrillar matrix of the corneal stroma, but it is not detected in the limbal BM.1 Publication

Gene expression databases

BgeeiENSG00000111799 Expressed in 190 organ(s), highest expression level in tibia
CleanExiHS_COL12A1
ExpressionAtlasiQ99715 baseline and differential
GenevisibleiQ99715 HS

Organism-specific databases

HPAiHPA009143
HPA070695

Interactioni

Subunit structurei

Trimer of identical chains each containing 190 kDa of non-triple-helical sequences.

Protein-protein interaction databases

BioGridi107700, 5 interactors
ComplexPortaliCPX-1753 Collagen type XII trimer
IntActiQ99715, 7 interactors
STRINGi9606.ENSP00000325146

Structurei

3D structure databases

ProteinModelPortaliQ99715
SMRiQ99715
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 117Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST91
Domaini140 – 316VWFA 1PROSITE-ProRule annotationAdd BLAST177
Domaini336 – 426Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST91
Domaini440 – 616VWFA 2PROSITE-ProRule annotationAdd BLAST177
Domaini634 – 722Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST89
Domaini725 – 816Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST92
Domaini817 – 905Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST89
Domaini907 – 998Fibronectin type-III 6PROSITE-ProRule annotationAdd BLAST92
Domaini999 – 1087Fibronectin type-III 7PROSITE-ProRule annotationAdd BLAST89
Domaini1089 – 1179Fibronectin type-III 8PROSITE-ProRule annotationAdd BLAST91
Domaini1199 – 1371VWFA 3PROSITE-ProRule annotationAdd BLAST173
Domaini1387 – 1476Fibronectin type-III 9PROSITE-ProRule annotationAdd BLAST90
Domaini1477 – 1567Fibronectin type-III 10PROSITE-ProRule annotationAdd BLAST91
Domaini1568 – 1658Fibronectin type-III 11PROSITE-ProRule annotationAdd BLAST91
Domaini1659 – 1754Fibronectin type-III 12PROSITE-ProRule annotationAdd BLAST96
Domaini1755 – 1849Fibronectin type-III 13PROSITE-ProRule annotationAdd BLAST95
Domaini1850 – 1935Fibronectin type-III 14PROSITE-ProRule annotationAdd BLAST86
Domaini1936 – 2026Fibronectin type-III 15PROSITE-ProRule annotationAdd BLAST91
Domaini2027 – 2117Fibronectin type-III 16PROSITE-ProRule annotationAdd BLAST91
Domaini2118 – 2206Fibronectin type-III 17PROSITE-ProRule annotationAdd BLAST89
Domaini2207 – 2294Fibronectin type-III 18PROSITE-ProRule annotationAdd BLAST88
Domaini2323 – 2496VWFA 4PROSITE-ProRule annotationAdd BLAST174
Domaini2520 – 2712Laminin G-likeAdd BLAST193
Domaini2747 – 2798Collagen-like 1Add BLAST52
Domaini2802 – 2852Collagen-like 2Add BLAST51
Domaini2853 – 2898Collagen-like 3Add BLAST46
Domaini2941 – 2990Collagen-like 4Add BLAST50

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2451 – 2746Nonhelical region (NC3)Add BLAST296
Regioni2747 – 2898Triple-helical region (COL2) with 1 imperfectionAdd BLAST152
Regioni2899 – 2941Nonhelical region (NC2)Add BLAST43
Regioni2942 – 3044Triple-helical region (COL1) with 2 imperfectionsAdd BLAST103
Regioni3045 – 3063Nonhelical region (NC1)Add BLAST19

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi862 – 864Cell attachment siteSequence analysis3
Motifi2779 – 2781Cell attachment siteSequence analysis3
Motifi2895 – 2897Cell attachment siteSequence analysis3

Sequence similaritiesi

Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IS7D Eukaryota
ENOG4111RUM LUCA
GeneTreeiENSGT00760000119000
HOVERGENiHBG051060
InParanoidiQ99715
KOiK08132
OMAiKYVKLSW
OrthoDBiEOG091G002N
PhylomeDBiQ99715
TreeFamiTF329914

Family and domain databases

CDDicd00063 FN3, 18 hits
Gene3Di2.60.40.10, 18 hits
3.40.50.410, 4 hits
InterProiView protein in InterPro
IPR039082 COL12A1
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR001791 Laminin_G
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PANTHERiPTHR45047:SF2 PTHR45047:SF2, 1 hit
PfamiView protein in Pfam
PF01391 Collagen, 4 hits
PF00041 fn3, 18 hits
PF00092 VWA, 4 hits
SMARTiView protein in SMART
SM00060 FN3, 18 hits
SM00210 TSPN, 1 hit
SM00327 VWA, 4 hits
SUPFAMiSSF49265 SSF49265, 11 hits
SSF49899 SSF49899, 1 hit
SSF53300 SSF53300, 4 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 18 hits
PS50234 VWFA, 4 hits

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Note: The final tissue form of collagen XII may contain homotrimers of either isoform 1 or isoform 2 or any combination of isoform 1 and isoform 2.

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99715-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRSRLPPALA ALGAALLLSS IEAEVDPPSD LNFKIIDENT VHMSWAKPVD 
        60         70         80         90        100
PIVGYRITVD PTTDGPTKEF TLSASTTETL LSELVPETEY VVTITSYDEV 
       110        120        130        140        150
EESVPVIGQL TIQTGSSTKP VEKKPGKTEI QKCSVSAWTD LVFLVDGSWS 
       160        170        180        190        200
VGRNNFKYIL DFIAALVSAF DIGEEKTRVG VVQYSSDTRT EFNLNQYYQR 
       210        220        230        240        250
DELLAAIKKI PYKGGNTMTG DAIDYLVKNT FTESAGARVG FPKVAIIITD 
       260        270        280        290        300
GKSQDEVEIP ARELRNVGVE VFSLGIKAAD AKELKQIAST PSLNHVFNVA 
       310        320        330        340        350
NFDAIVDIQN EIISQVCSGV DEQLGELVSG EEVVEPPSNL IAMEVSSKYV 
       360        370        380        390        400
KLNWNPSPSP VTGYKVILTP MTAGSRQHAL SVGPQTTTLS VRDLSADTEY 
       410        420        430        440        450
QISVSAMKGM TSSEPISIME KTQPMKVQVE CSRGVDIKAD IVFLVDGSYS 
       460        470        480        490        500
IGIANFVKVR AFLEVLVKSF EISPNRVQIS LVQYSRDPHT EFTLKKFTKV 
       510        520        530        540        550
EDIIEAINTF PYRGGSTNTG KAMTYVREKI FVPSKGSRSN VPKVMILITD 
       560        570        580        590        600
GKSSDAFRDP AIKLRNSDVE IFAVGVKDAV RSELEAIASP PAETHVFTVE 
       610        620        630        640        650
DFDAFQRISF ELTQSICLRI EQELAAIKKK AYVPPKDLSF SEVTSYGFKT 
       660        670        680        690        700
NWSPAGENVF SYHITYKEAA GDDEVTVVEP ASSTSVVLSS LKPETLYLVN 
       710        720        730        740        750
VTAEYEDGFS IPLAGEETTE EVKGAPRNLK VTDETTDSFK ITWTQAPGRV 
       760        770        780        790        800
LRYRIIYRPV AGGESREVTT PPNQRRRTLE NLIPDTKYEV SVIPEYFSGP 
       810        820        830        840        850
GTPLTGNAAT EEVRGNPRDL RVSDPTTSTM KLSWSGAPGK VKQYLVTYTP 
       860        870        880        890        900
VAGGETQEVT VRGDTTNTVL QGLKEGTQYA LSVTALYASG AGDALFGEGT 
       910        920        930        940        950
TLEERGSPQD LVTKDITDTS IGAYWTSAPG MVRGYRVSWK SLYDDVDTGE 
       960        970        980        990       1000
KNLPEDAIHT MIENLQPETK YRISVFATYS SGEGEPLTGD ATTELSQDSK 
      1010       1020       1030       1040       1050
TLKVDEETEN TMRVTWKPAP GKVVNYRVVY RPHGRGKQMV AKVPPTVTST 
      1060       1070       1080       1090       1100
VLKRLQPQTT YDITVLPIYK MGEGKLRQGS GTTASRFKSP RNLKTSDPTM 
      1110       1120       1130       1140       1150
SSFRVTWEPA PGEVKGYKVT FHPTGDDRRL GELVVGPYDN TVVLEELRAG 
      1160       1170       1180       1190       1200
TTYKVNVFGM FDGGESSPLV GQEMTTLSDT TVMPILSSGM ECLTRAEADI 
      1210       1220       1230       1240       1250
VLLVDGSWSI GRANFRTVRS FISRIVEVFD IGPKRVQIAL AQYSGDPRTE 
      1260       1270       1280       1290       1300
WQLNAHRDKK SLLQAVANLP YKGGNTLTGM ALNFIRQQNF RTQAGMRPRA 
      1310       1320       1330       1340       1350
RKIGVLITDG KSQDDVEAPS KKLKDEGVEL FAIGIKNADE VELKMIATDP 
      1360       1370       1380       1390       1400
DDTHAYNVAD FESLSRIVDD LTINLCNSVK GPGDLEAPSN LVISERTHRS 
      1410       1420       1430       1440       1450
FRVSWTPPSD SVDRYKVEYY PVSGGKRQEF YVSRMETSTV LKDLKPETEY 
      1460       1470       1480       1490       1500
VVNVYSVVED EYSEPLKGTE KTLPVPVVSL NIYDVGPTTM HVQWQPVGGA 
      1510       1520       1530       1540       1550
TGYILSYKPV KDTEPTRPKE VRLGPTVNDM QLTDLVPNTE YAVTVQAVLH 
      1560       1570       1580       1590       1600
DLTSEPVTVR EVTLPLPRPQ DLKLRDVTHS TMNVFWEPVP GKVRKYIVRY 
      1610       1620       1630       1640       1650
KTPEEDVKEV EVDRSETSTS LKDLFSQTLY TVSVSAVHDE GESPPVTAQE 
      1660       1670       1680       1690       1700
TTRPVPAPTN LKITEVTSEG FRGTWDHGAS DVSLYRITWA PFGSSDKMET 
      1710       1720       1730       1740       1750
ILNGDENTLV FENLNPNTIY EVSITAIYPD ESESDDLIGS ERTLPILTTQ 
      1760       1770       1780       1790       1800
APKSGPRNLQ VYNATSNSLT VKWDPASGRV QKYRITYQPS TGEGNEQTTT 
      1810       1820       1830       1840       1850
IGGRQNSVVL QKLKPDTPYT ITVSSLYPDG EGGRMTGRGK TKPLNTVRNL 
      1860       1870       1880       1890       1900
RVYDPSTSTL NVRWDHAEGN PRQYKLFYAP AAGGPEELVP IPGNTNYAIL 
      1910       1920       1930       1940       1950
RNLQPDTSYT VTVVPVYTEG DGGRTSDTGR TLMRGLARNV QVYNPTPNSL 
      1960       1970       1980       1990       2000
DVRWDPAPGP VLQYRVVYSP VDGTRPSESI VVPGNTRMVH LERLIPDTLY 
      2010       2020       2030       2040       2050
SVNLVALYSD GEGNPSPAQG RTLPRSGPRN LRVFGETTNS LSVAWDHADG 
      2060       2070       2080       2090       2100
PVQQYRIIYS PTVGDPIDEY TTVPGRRNNV ILQPLQPDTP YKITVIAVYE 
      2110       2120       2130       2140       2150
DGDGGHLTGN GRTVGLLPPQ NIHISDEWYT RFRVSWDPSP SPVLGYKIVY 
      2160       2170       2180       2190       2200
KPVGSNEPME AFVGEMTSYT LHNLNPSTTY DVNVYAQYDS GLSVPLTDQG 
      2210       2220       2230       2240       2250
TTLYLNVTDL KTYQIGWDTF CVKWSPHRAA TSYRLKLSPA DGTRGQEITV 
      2260       2270       2280       2290       2300
RGSETSHCFT GLSPDTDYGV TVFVQTPNLE GPGVSVKEHT TVKPTEAPTE 
      2310       2320       2330       2340       2350
PPTPPPPPTI PPARDVCKGA KADIVFLTDA SWSIGDDNFN KVVKFIFNTV 
      2360       2370       2380       2390       2400
GGFDEISPAG IQVSFVQYSD EVKSEFKLNT YNDKALALGA LQNIRYRGGN 
      2410       2420       2430       2440       2450
TRTGKALTFI KEKVLTWESG MRKNVPKVLV VVTDGRSQDE VKKAALVIQQ 
      2460       2470       2480       2490       2500
SGFSVFVVGV ADVDYNELAN IASKPSERHV FIVDDFESFE KIEDNLITFV 
      2510       2520       2530       2540       2550
CETATSSCPL IYLDGYTSPG FKMLEAYNLT EKNFASVQGV SLESGSFPSY 
      2560       2570       2580       2590       2600
SAYRIQKNAF VNQPTADLHP NGLPPSYTII LLFRLLPETP SDPFAIWQIT 
      2610       2620       2630       2640       2650
DRDYKPQVGV IADPSSKTLS FFNKDTRGEV QTVTFDTEEV KTLFYGSFHK 
      2660       2670       2680       2690       2700
VHIVVTSKSV KIYIDCYEII EKDIKEAGNI TTDGYEILGK LLKGERKSAA 
      2710       2720       2730       2740       2750
FQIQSFDIVC SPVWTSRDRC CDIPSRRDEG KCPAFPNSCT CTQDSVGPPG 
      2760       2770       2780       2790       2800
PPGPAGGPGA KGPRGERGIS GAIGPPGPRG DIGPPGPQGP PGPQGPNGLS 
      2810       2820       2830       2840       2850
IPGEQGRQGM KGDAGEPGLP GRTGTPGLPG PPGPMGPPGD RGFTGKDGAM 
      2860       2870       2880       2890       2900
GPRGPPGPPG SPGSPGVTGP SGKPGKPGDH GRPGPSGLKG EKGDRGDIAS 
      2910       2920       2930       2940       2950
QNMMRAVARQ VCEQLISGQM NRFNQMLNQI PNDYQSSRNQ PGPPGPPGPP 
      2960       2970       2980       2990       3000
GSAGARGEPG PGGRPGFPGT PGMQGPPGER GLPGEKGERG TGSSGPRGLP 
      3010       3020       3030       3040       3050
GPPGPQGESR TGPPGSTGSR GPPGPPGRPG NSGIRGPPGP PGYCDSSQCA 
      3060 
SIPYNGQGYP GSG
Length:3,063
Mass (Da):333,147
Last modified:May 1, 2007 - v2
Checksum:iEA38CAFECE8393D2
GO
Isoform 2 (identifier: Q99715-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     25-1188: Missing.

Show »
Length:1,899
Mass (Da):205,491
Checksum:iECFB9F5436FF7B24
GO
Isoform 4 (identifier: Q99715-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2651-2726: Missing.

Show »
Length:2,987
Mass (Da):324,570
Checksum:iE5EEB57CBFB556E2
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RGG3D6RGG3_HUMAN
Collagen alpha-1(XII) chain
COL12A1
3,062Annotation score:
H0Y991H0Y991_HUMAN
Collagen alpha-1(XII) chain
COL12A1
207Annotation score:
H0Y4P7H0Y4P7_HUMAN
Collagen alpha-1(XII) chain
COL12A1
638Annotation score:
H0Y5N9H0Y5N9_HUMAN
Collagen alpha-1(XII) chain
COL12A1
756Annotation score:
A0A087X0A8A0A087X0A8_HUMAN
Collagen alpha-1(XII) chain
COL12A1
1,874Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti47K → E in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti441 – 442IV → M in AAC01506 (PubMed:9344363).Curated2
Sequence conflicti581R → D in AAC01506 (PubMed:9344363).Curated1
Sequence conflicti689S → N in AAC01506 (PubMed:9344363).Curated1
Sequence conflicti743W → S in AAC01506 (PubMed:9344363).Curated1
Sequence conflicti749R → K in AAC01506 (PubMed:9344363).Curated1
Sequence conflicti753Y → C in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti813V → G in AAC01506 (PubMed:9344363).Curated1
Sequence conflicti1355A → D in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti1690A → G in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti1729P → A in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti1949 – 1951SLD → RLG in AAC51244 (PubMed:9143499).Curated3
Sequence conflicti2614P → S in AAB23937 (PubMed:1427837).Curated1
Sequence conflicti2647 – 2648SF → RK in AAB23937 (PubMed:1427837).Curated2
Sequence conflicti2848G → S in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti2858P → R in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti3035R → Q in AAC51244 (PubMed:9143499).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048768461A → P. Corresponds to variant dbSNP:rs34730529Ensembl.1
Natural variantiVAR_0487691738I → T1 PublicationCorresponds to variant dbSNP:rs240736EnsemblClinVar.1
Natural variantiVAR_0745461965R → C in BTHLM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200487396EnsemblClinVar.1
Natural variantiVAR_0611112021R → Q. Corresponds to variant dbSNP:rs34438461EnsemblClinVar.1
Natural variantiVAR_0487702160E → V. Corresponds to variant dbSNP:rs35523808EnsemblClinVar.1
Natural variantiVAR_0745472334I → T in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052093EnsemblClinVar.1
Natural variantiVAR_0487712596I → V. Corresponds to variant dbSNP:rs35710072EnsemblClinVar.1
Natural variantiVAR_0745482786G → D in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052094EnsemblClinVar.1
Natural variantiVAR_0611123048Q → H. Corresponds to variant dbSNP:rs57396313Ensembl.1
Natural variantiVAR_0745493058G → S2 PublicationsCorresponds to variant dbSNP:rs970547EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00114925 – 1188Missing in isoform 2. 1 PublicationAdd BLAST1164
Alternative sequenceiVSP_0249422651 – 2726Missing in isoform 4. CuratedAdd BLAST76

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U73778 mRNA Translation: AAC51244.1
U73779 mRNA Translation: AAD40483.1
AL080250 Genomic DNA No translation available.
AL354664 Genomic DNA No translation available.
AL096771 Genomic DNA No translation available.
AF061871 Genomic DNA Translation: AAC83578.1
U68139 mRNA Translation: AAC01506.1
AH004088 Genomic DNA Translation: AAB23937.2
CCDSiCCDS43481.1 [Q99715-2]
CCDS43482.1 [Q99715-1]
PIRiA44479
RefSeqiNP_004361.3, NM_004370.5 [Q99715-1]
NP_542376.2, NM_080645.2 [Q99715-2]
UniGeneiHs.101302

Genome annotation databases

EnsembliENST00000322507; ENSP00000325146; ENSG00000111799 [Q99715-1]
ENST00000345356; ENSP00000305147; ENSG00000111799 [Q99715-2]
ENST00000416123; ENSP00000412864; ENSG00000111799 [Q99715-4]
GeneIDi1303
KEGGihsa:1303
UCSCiuc063ppm.1 human [Q99715-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U73778 mRNA Translation: AAC51244.1
U73779 mRNA Translation: AAD40483.1
AL080250 Genomic DNA No translation available.
AL354664 Genomic DNA No translation available.
AL096771 Genomic DNA No translation available.
AF061871 Genomic DNA Translation: AAC83578.1
U68139 mRNA Translation: AAC01506.1
AH004088 Genomic DNA Translation: AAB23937.2
CCDSiCCDS43481.1 [Q99715-2]
CCDS43482.1 [Q99715-1]
PIRiA44479
RefSeqiNP_004361.3, NM_004370.5 [Q99715-1]
NP_542376.2, NM_080645.2 [Q99715-2]
UniGeneiHs.101302

3D structure databases

ProteinModelPortaliQ99715
SMRiQ99715
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107700, 5 interactors
ComplexPortaliCPX-1753 Collagen type XII trimer
IntActiQ99715, 7 interactors
STRINGi9606.ENSP00000325146

PTM databases

GlyConnecti1131
iPTMnetiQ99715
PhosphoSitePlusiQ99715

Polymorphism and mutation databases

BioMutaiCOL12A1
DMDMi146345397

Proteomic databases

EPDiQ99715
MaxQBiQ99715
PaxDbiQ99715
PeptideAtlasiQ99715
PRIDEiQ99715
ProteomicsDBi78429
78430 [Q99715-2]
78431 [Q99715-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322507; ENSP00000325146; ENSG00000111799 [Q99715-1]
ENST00000345356; ENSP00000305147; ENSG00000111799 [Q99715-2]
ENST00000416123; ENSP00000412864; ENSG00000111799 [Q99715-4]
GeneIDi1303
KEGGihsa:1303
UCSCiuc063ppm.1 human [Q99715-1]

Organism-specific databases

CTDi1303
DisGeNETi1303
EuPathDBiHostDB:ENSG00000111799.20
GeneCardsiCOL12A1
H-InvDBiHIX0006013
HGNCiHGNC:2188 COL12A1
HPAiHPA009143
HPA070695
MalaCardsiCOL12A1
MIMi120320 gene
616470 phenotype
616471 phenotype
neXtProtiNX_Q99715
OpenTargetsiENSG00000111799
Orphaneti610 Bethlem myopathy
75840 Congenital muscular dystrophy, Ullrich type
PharmGKBiPA26704
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IS7D Eukaryota
ENOG4111RUM LUCA
GeneTreeiENSGT00760000119000
HOVERGENiHBG051060
InParanoidiQ99715
KOiK08132
OMAiKYVKLSW
OrthoDBiEOG091G002N
PhylomeDBiQ99715
TreeFamiTF329914

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-8948216 Collagen chain trimerization
SIGNORiQ99715

Miscellaneous databases

ChiTaRSiCOL12A1 human
GeneWikiiCollagen,_type_XII,_alpha_1
GenomeRNAii1303
PROiPR:Q99715
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111799 Expressed in 190 organ(s), highest expression level in tibia
CleanExiHS_COL12A1
ExpressionAtlasiQ99715 baseline and differential
GenevisibleiQ99715 HS

Family and domain databases

CDDicd00063 FN3, 18 hits
Gene3Di2.60.40.10, 18 hits
3.40.50.410, 4 hits
InterProiView protein in InterPro
IPR039082 COL12A1
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR001791 Laminin_G
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PANTHERiPTHR45047:SF2 PTHR45047:SF2, 1 hit
PfamiView protein in Pfam
PF01391 Collagen, 4 hits
PF00041 fn3, 18 hits
PF00092 VWA, 4 hits
SMARTiView protein in SMART
SM00060 FN3, 18 hits
SM00210 TSPN, 1 hit
SM00327 VWA, 4 hits
SUPFAMiSSF49265 SSF49265, 11 hits
SSF49899 SSF49899, 1 hit
SSF53300 SSF53300, 4 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 18 hits
PS50234 VWFA, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCOCA1_HUMAN
AccessioniPrimary (citable) accession number: Q99715
Secondary accession number(s): O43853
, Q15955, Q5VYK1, Q5VYK2, Q71UR3, Q99716
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 1, 2007
Last modified: November 7, 2018
This is version 182 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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