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Protein

Collagen alpha-1(XII) chain

Gene

COL12A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • extracellular matrix structural constituent conferring tensile strength Source: UniProtKB

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • collagen catabolic process Source: Reactome
  • collagen fibril organization Source: UniProtKB
  • endodermal cell differentiation Source: UniProtKB
  • skeletal system development Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111799-MONOMER.
ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(XII) chain
Gene namesi
Name:COL12A1
Synonyms:COL12A1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:2188. COL12A1.

Subcellular locationi

GO - Cellular componenti

  • collagen type XII trimer Source: UniProtKB
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: BHF-UCL
  • extracellular vesicle Source: UniProtKB
Complete GO annotation...

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.
See also OMIM:616471
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0745461965R → C in BTHLM2. 1 PublicationCorresponds to variant rs200487396dbSNPEnsembl.1
Natural variantiVAR_0745472334I → T in BTHLM2. 1 PublicationCorresponds to variant rs796052093dbSNPEnsembl.1
Natural variantiVAR_0745482786G → D in BTHLM2. 1 PublicationCorresponds to variant rs796052094dbSNPEnsembl.1

Keywords - Diseasei

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...)Sequence analysis1
Glycosylationi798O-linked (Xyl...) (chondroitin sulfate)Sequence analysis1
Glycosylationi889O-linked (Xyl...) (chondroitin sulfate)Sequence analysis1
Glycosylationi981O-linked (Xyl...) (chondroitin sulfate)Sequence analysis1
Glycosylationi1763N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2206N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2528N-linked (GlcNAc...)1 Publication1
Glycosylationi2679N-linked (GlcNAc...)1 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

Proteomic databases

EPDiQ99715.
MaxQBiQ99715.
PaxDbiQ99715.
PeptideAtlasiQ99715.
PRIDEiQ99715.

PTM databases

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.
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. 4 interactors.
IntActiQ99715. 6 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

Contains 4 collagen-like domains.Curated
Contains 18 fibronectin type-III domains.PROSITE-ProRule annotation
Contains 1 laminin G-like domain.Curated
Contains 4 VWFA domains.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IS7D. Eukaryota.
ENOG4111RUM. LUCA.
GeneTreeiENSGT00760000119000.
HOVERGENiHBG051060.
InParanoidiQ99715.
KOiK08132.
OMAiWKPAPGK.
OrthoDBiEOG091G002N.
PhylomeDBiQ99715.
TreeFamiTF329914.

Family and domain databases

CDDicd00063. FN3. 18 hits.
Gene3Di2.60.120.200. 1 hit.
2.60.40.10. 18 hits.
3.40.50.410. 4 hits.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR001791. Laminin_G.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 4 hits.
PF00041. fn3. 18 hits.
PF00092. VWA. 4 hits.
[Graphical view]
SMARTiSM00060. FN3. 18 hits.
SM00210. TSPN. 1 hit.
SM00327. VWA. 4 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 11 hits.
SSF49899. SSF49899. 1 hit.
SSF53300. SSF53300. 4 hits.
PROSITEiPS50853. FN3. 18 hits.
PS50234. VWFA. 4 hits.
[Graphical view]

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.
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

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 rs34730529dbSNPEnsembl.1
Natural variantiVAR_0487691738I → T.1 PublicationCorresponds to variant rs240736dbSNPEnsembl.1
Natural variantiVAR_0745461965R → C in BTHLM2. 1 PublicationCorresponds to variant rs200487396dbSNPEnsembl.1
Natural variantiVAR_0611112021R → Q.Corresponds to variant rs34438461dbSNPEnsembl.1
Natural variantiVAR_0487702160E → V.Corresponds to variant rs35523808dbSNPEnsembl.1
Natural variantiVAR_0745472334I → T in BTHLM2. 1 PublicationCorresponds to variant rs796052093dbSNPEnsembl.1
Natural variantiVAR_0487712596I → V.Corresponds to variant rs35710072dbSNPEnsembl.1
Natural variantiVAR_0745482786G → D in BTHLM2. 1 PublicationCorresponds to variant rs796052094dbSNPEnsembl.1
Natural variantiVAR_0611123048Q → H.Corresponds to variant rs57396313dbSNPEnsembl.1
Natural variantiVAR_0745493058G → S.2 PublicationsCorresponds to variant rs970547dbSNPEnsembl.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, AL096771, AL354664 Genomic DNA. Translation: CAI19898.1.
AL354664, AL080250, AL096771 Genomic DNA. Translation: CAH71310.1.
AL096771, AL354664, AL080250 Genomic DNA. Translation: CAI19908.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U73778 mRNA. Translation: AAC51244.1.
U73779 mRNA. Translation: AAD40483.1.
AL080250, AL096771, AL354664 Genomic DNA. Translation: CAI19898.1.
AL354664, AL080250, AL096771 Genomic DNA. Translation: CAH71310.1.
AL096771, AL354664, AL080250 Genomic DNA. Translation: CAI19908.1.
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. 4 interactors.
IntActiQ99715. 6 interactors.
STRINGi9606.ENSP00000325146.

PTM databases

iPTMnetiQ99715.
PhosphoSitePlusiQ99715.

Polymorphism and mutation databases

BioMutaiCOL12A1.
DMDMi146345397.

Proteomic databases

EPDiQ99715.
MaxQBiQ99715.
PaxDbiQ99715.
PeptideAtlasiQ99715.
PRIDEiQ99715.

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.
GeneCardsiCOL12A1.
H-InvDBHIX0006013.
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.
OMAiWKPAPGK.
OrthoDBiEOG091G002N.
PhylomeDBiQ99715.
TreeFamiTF329914.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111799-MONOMER.
ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

ChiTaRSiCOL12A1. human.
GeneWikiiCollagen,_type_XII,_alpha_1.
GenomeRNAii1303.
PROiQ99715.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111799.
CleanExiHS_COL12A1.
ExpressionAtlasiQ99715. baseline and differential.
GenevisibleiQ99715. HS.

Family and domain databases

CDDicd00063. FN3. 18 hits.
Gene3Di2.60.120.200. 1 hit.
2.60.40.10. 18 hits.
3.40.50.410. 4 hits.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR001791. Laminin_G.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 4 hits.
PF00041. fn3. 18 hits.
PF00092. VWA. 4 hits.
[Graphical view]
SMARTiSM00060. FN3. 18 hits.
SM00210. TSPN. 1 hit.
SM00327. VWA. 4 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 11 hits.
SSF49899. SSF49899. 1 hit.
SSF53300. SSF53300. 4 hits.
PROSITEiPS50853. FN3. 18 hits.
PS50234. VWFA. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOCA1_HUMAN
AccessioniPrimary (citable) accession number: Q99715
Secondary accession number(s): O43853
, Q15955, Q5VYK1, Q5VYK2, Q71UR3, Q99716
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 1, 2007
Last modified: November 30, 2016
This is version 165 of the entry and version 2 of the sequence. [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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.