UniProtKB - Q99715 (COCA1_HUMAN)
Collagen alpha-1(XII) chain
COL12A1
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 similarityGO - Molecular functioni
- extracellular matrix structural constituent conferring tensile strength Source: UniProtKB
GO - Biological processi
- cell adhesion Source: UniProtKB-KW
- collagen fibril organization Source: UniProtKB
- endodermal cell differentiation Source: UniProtKB
Keywordsi
Biological process | Cell adhesion |
Enzyme and pathway databases
PathwayCommonsi | Q99715 |
Reactomei | R-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 |
SignaLinki | Q99715 |
SIGNORi | Q99715 |
Names & Taxonomyi
Protein namesi | Recommended name: Collagen alpha-1(XII) chain |
Gene namesi | Name:COL12A1 Synonyms:COL12A1L |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2188, COL12A1 |
MIMi | 120320, gene |
neXtProti | NX_Q99715 |
VEuPathDBi | HostDB:ENSG00000111799 |
Subcellular locationi
Extracellular region or secreted
- extracellular matrix By similarity
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: BHF-UCL
- extracellular space Source: BHF-UCL
- extracellular vesicle Source: UniProtKB
Other locations
- collagen type XII trimer Source: ProtInc
- collagen-containing extracellular matrix Source: UniProtKB
Keywords - Cellular componenti
Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Ullrich congenital muscular dystrophy 2 (UCMD2)1 Publication
Bethlem myopathy 2 (BTHLM2)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074546 | 1965 | R → C in BTHLM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200487396EnsemblClinVar. | 1 | |
Natural variantiVAR_074547 | 2334 | I → T in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052093EnsemblClinVar. | 1 | |
Natural variantiVAR_074548 | 2786 | G → D in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052094EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital muscular dystrophy, Disease variantOrganism-specific databases
DisGeNETi | 1303 |
MalaCardsi | COL12A1 |
MIMi | 616470, phenotype 616471, phenotype |
OpenTargetsi | ENSG00000111799 |
Orphaneti | 610, Bethlem myopathy 75840, Congenital muscular dystrophy, Ullrich type 536516, Myopathic Ehlers-Danlos syndrome |
PharmGKBi | PA26704 |
Miscellaneous databases
Pharosi | Q99715, Tbio |
Genetic variation databases
BioMutai | COL12A1 |
DMDMi | 146345397 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | Sequence analysisAdd BLAST | 23 | |
ChainiPRO_0000005783 | 24 – 3063 | Collagen alpha-1(XII) chainAdd BLAST | 3040 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 700 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 798 | O-linked (Xyl...) (chondroitin sulfate) serineSequence analysis | 1 | |
Glycosylationi | 889 | O-linked (Xyl...) (chondroitin sulfate) serineSequence analysis | 1 | |
Glycosylationi | 981 | O-linked (Xyl...) (chondroitin sulfate) serineSequence analysis | 1 | |
Glycosylationi | 1763 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2206 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2528 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 2679 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Modified residuei | 2944 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 2947 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 2950 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 2959 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 2965 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 2968 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 2971 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 2983 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 3000 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 3003 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 3014 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 3023 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 3026 | 4-hydroxyprolineBy similarity | 1 | |
Modified residuei | 3029 | 4-hydroxyprolineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, Glycoprotein, Hydroxylation, ProteoglycanProteomic databases
EPDi | Q99715 |
jPOSTi | Q99715 |
MassIVEi | Q99715 |
MaxQBi | Q99715 |
PaxDbi | Q99715 |
PeptideAtlasi | Q99715 |
PRIDEi | Q99715 |
ProteomicsDBi | 78429 [Q99715-1] 78430 [Q99715-2] 78431 [Q99715-4] |
PTM databases
GlyConnecti | 1131, 70 N-Linked glycans (4 sites) |
GlyGeni | Q99715, 14 sites, 82 N-linked glycans (4 sites), 9 O-linked glycans (6 sites) |
iPTMneti | Q99715 |
PhosphoSitePlusi | Q99715 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000111799, Expressed in tibia and 206 other tissues |
ExpressionAtlasi | Q99715, baseline and differential |
Genevisiblei | Q99715, HS |
Organism-specific databases
HPAi | ENSG00000111799, Tissue enhanced (endometrium) |
Interactioni
Subunit structurei
Trimer of identical chains each containing 190 kDa of non-triple-helical sequences.
Protein-protein interaction databases
BioGRIDi | 107700, 65 interactors |
ComplexPortali | CPX-1753, Collagen type XII trimer |
IntActi | Q99715, 9 interactors |
STRINGi | 9606.ENSP00000325146 |
Miscellaneous databases
RNActi | Q99715, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 27 – 117 | Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 140 – 316 | VWFA 1PROSITE-ProRule annotationAdd BLAST | 177 | |
Domaini | 336 – 426 | Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 440 – 616 | VWFA 2PROSITE-ProRule annotationAdd BLAST | 177 | |
Domaini | 634 – 722 | Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST | 89 | |
Domaini | 725 – 816 | Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST | 92 | |
Domaini | 817 – 905 | Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST | 89 | |
Domaini | 907 – 998 | Fibronectin type-III 6PROSITE-ProRule annotationAdd BLAST | 92 | |
Domaini | 999 – 1087 | Fibronectin type-III 7PROSITE-ProRule annotationAdd BLAST | 89 | |
Domaini | 1089 – 1179 | Fibronectin type-III 8PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 1199 – 1371 | VWFA 3PROSITE-ProRule annotationAdd BLAST | 173 | |
Domaini | 1387 – 1476 | Fibronectin type-III 9PROSITE-ProRule annotationAdd BLAST | 90 | |
Domaini | 1477 – 1567 | Fibronectin type-III 10PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 1568 – 1658 | Fibronectin type-III 11PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 1659 – 1754 | Fibronectin type-III 12PROSITE-ProRule annotationAdd BLAST | 96 | |
Domaini | 1755 – 1849 | Fibronectin type-III 13PROSITE-ProRule annotationAdd BLAST | 95 | |
Domaini | 1850 – 1935 | Fibronectin type-III 14PROSITE-ProRule annotationAdd BLAST | 86 | |
Domaini | 1936 – 2026 | Fibronectin type-III 15PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 2027 – 2117 | Fibronectin type-III 16PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 2118 – 2206 | Fibronectin type-III 17PROSITE-ProRule annotationAdd BLAST | 89 | |
Domaini | 2207 – 2294 | Fibronectin type-III 18PROSITE-ProRule annotationAdd BLAST | 88 | |
Domaini | 2323 – 2496 | VWFA 4PROSITE-ProRule annotationAdd BLAST | 174 | |
Domaini | 2520 – 2712 | Laminin G-likeAdd BLAST | 193 | |
Domaini | 2747 – 2798 | Collagen-like 1Add BLAST | 52 | |
Domaini | 2802 – 2852 | Collagen-like 2Add BLAST | 51 | |
Domaini | 2853 – 2898 | Collagen-like 3Add BLAST | 46 | |
Domaini | 2941 – 2990 | Collagen-like 4Add BLAST | 50 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 799 – 830 | DisorderedSequence analysisAdd BLAST | 32 | |
Regioni | 1077 – 1099 | DisorderedSequence analysisAdd BLAST | 23 | |
Regioni | 2283 – 2312 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 2451 – 2746 | Nonhelical region (NC3)Add BLAST | 296 | |
Regioni | 2743 – 2896 | DisorderedSequence analysisAdd BLAST | 154 | |
Regioni | 2747 – 2898 | Triple-helical region (COL2) with 1 imperfectionAdd BLAST | 152 | |
Regioni | 2899 – 2941 | Nonhelical region (NC2)Add BLAST | 43 | |
Regioni | 2932 – 3063 | DisorderedSequence analysisAdd BLAST | 132 | |
Regioni | 2942 – 3044 | Triple-helical region (COL1) with 2 imperfectionsAdd BLAST | 103 | |
Regioni | 3045 – 3063 | Nonhelical region (NC1)Add BLAST | 19 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 862 – 864 | Cell attachment siteSequence analysis | 3 | |
Motifi | 2779 – 2781 | Cell attachment siteSequence analysis | 3 | |
Motifi | 2895 – 2897 | Cell attachment siteSequence analysis | 3 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1078 – 1099 | Polar residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 2297 – 2312 | Pro residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 2778 – 2797 | Pro residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 2824 – 2838 | Pro residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 2940 – 2954 | Pro residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 3018 – 3036 | Pro residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 3048 – 3063 | Polar residuesSequence analysisAdd BLAST | 16 |
Sequence similaritiesi
Keywords - Domaini
Collagen, Repeat, SignalPhylogenomic databases
eggNOGi | KOG3544, Eukaryota |
GeneTreei | ENSGT00940000154923 |
HOGENOMi | CLU_000467_0_0_1 |
InParanoidi | Q99715 |
OMAi | KAEIQKC |
OrthoDBi | 67372at2759 |
PhylomeDBi | Q99715 |
TreeFami | TF329914 |
Family and domain databases
CDDi | cd00063, FN3, 18 hits |
Gene3Di | 2.60.40.10, 18 hits 3.40.50.410, 4 hits |
InterProi | View protein in InterPro 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 |
Pfami | View protein in Pfam PF01391, Collagen, 4 hits PF00041, fn3, 18 hits PF00092, VWA, 4 hits |
SMARTi | View protein in SMART SM00060, FN3, 18 hits SM00210, TSPN, 1 hit SM00327, VWA, 4 hits |
SUPFAMi | SSF49265, SSF49265, 11 hits SSF49899, SSF49899, 1 hit SSF53300, SSF53300, 4 hits |
PROSITEi | View protein in PROSITE PS50853, FN3, 18 hits PS50234, VWFA, 4 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RGG3 | D6RGG3_HUMAN | Collagen alpha-1(XII) chain | COL12A1 | 3,062 | Annotation score: | ||
H0Y5N9 | H0Y5N9_HUMAN | Collagen alpha-1(XII) chain | COL12A1 | 756 | Annotation score: | ||
H0Y4P7 | H0Y4P7_HUMAN | Collagen alpha-1(XII) chain | COL12A1 | 638 | Annotation score: | ||
H0Y991 | H0Y991_HUMAN | Collagen alpha-1(XII) chain | COL12A1 | 207 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 47 | K → E in AAC51244 (PubMed:9143499).Curated | 1 | |
Sequence conflicti | 441 – 442 | IV → M in AAC01506 (PubMed:9344363).Curated | 2 | |
Sequence conflicti | 581 | R → D in AAC01506 (PubMed:9344363).Curated | 1 | |
Sequence conflicti | 689 | S → N in AAC01506 (PubMed:9344363).Curated | 1 | |
Sequence conflicti | 743 | W → S in AAC01506 (PubMed:9344363).Curated | 1 | |
Sequence conflicti | 749 | R → K in AAC01506 (PubMed:9344363).Curated | 1 | |
Sequence conflicti | 753 | Y → C in AAC51244 (PubMed:9143499).Curated | 1 | |
Sequence conflicti | 813 | V → G in AAC01506 (PubMed:9344363).Curated | 1 | |
Sequence conflicti | 1355 | A → D in AAC51244 (PubMed:9143499).Curated | 1 | |
Sequence conflicti | 1690 | A → G in AAC51244 (PubMed:9143499).Curated | 1 | |
Sequence conflicti | 1729 | P → A in AAC51244 (PubMed:9143499).Curated | 1 | |
Sequence conflicti | 1949 – 1951 | SLD → RLG in AAC51244 (PubMed:9143499).Curated | 3 | |
Sequence conflicti | 2614 | P → S in AAB23937 (PubMed:1427837).Curated | 1 | |
Sequence conflicti | 2647 – 2648 | SF → RK in AAB23937 (PubMed:1427837).Curated | 2 | |
Sequence conflicti | 2848 | G → S in AAC51244 (PubMed:9143499).Curated | 1 | |
Sequence conflicti | 2858 | P → R in AAC51244 (PubMed:9143499).Curated | 1 | |
Sequence conflicti | 3035 | R → Q in AAC51244 (PubMed:9143499).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048768 | 461 | A → P. Corresponds to variant dbSNP:rs34730529Ensembl. | 1 | |
Natural variantiVAR_048769 | 1738 | I → T1 PublicationCorresponds to variant dbSNP:rs240736EnsemblClinVar. | 1 | |
Natural variantiVAR_074546 | 1965 | R → C in BTHLM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200487396EnsemblClinVar. | 1 | |
Natural variantiVAR_061111 | 2021 | R → Q. Corresponds to variant dbSNP:rs34438461EnsemblClinVar. | 1 | |
Natural variantiVAR_048770 | 2160 | E → V. Corresponds to variant dbSNP:rs35523808EnsemblClinVar. | 1 | |
Natural variantiVAR_074547 | 2334 | I → T in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052093EnsemblClinVar. | 1 | |
Natural variantiVAR_048771 | 2596 | I → V. Corresponds to variant dbSNP:rs35710072EnsemblClinVar. | 1 | |
Natural variantiVAR_074548 | 2786 | G → D in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052094EnsemblClinVar. | 1 | |
Natural variantiVAR_061112 | 3048 | Q → H. Corresponds to variant dbSNP:rs57396313EnsemblClinVar. | 1 | |
Natural variantiVAR_074549 | 3058 | G → S2 PublicationsCorresponds to variant dbSNP:rs970547EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001149 | 25 – 1188 | Missing in isoform 2. 1 PublicationAdd BLAST | 1164 | |
Alternative sequenceiVSP_024942 | 2651 – 2726 | Missing in isoform 4. CuratedAdd BLAST | 76 |
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 |
CCDSi | CCDS43481.1 [Q99715-2] CCDS43482.1 [Q99715-1] |
PIRi | A44479 |
RefSeqi | NP_004361.3, NM_004370.5 [Q99715-1] NP_542376.2, NM_080645.2 [Q99715-2] |
Genome annotation databases
Ensembli | ENST00000322507.13; ENSP00000325146.8; ENSG00000111799.22 ENST00000345356.10; ENSP00000305147.9; ENSG00000111799.22 [Q99715-2] ENST00000416123.6; ENSP00000412864.2; ENSG00000111799.22 [Q99715-4] |
GeneIDi | 1303 |
KEGGi | hsa:1303 |
MANE-Selecti | ENST00000322507.13; ENSP00000325146.8; NM_004370.6; NP_004361.3 |
UCSCi | uc063ppm.1, human [Q99715-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS43481.1 [Q99715-2] CCDS43482.1 [Q99715-1] |
PIRi | A44479 |
RefSeqi | NP_004361.3, NM_004370.5 [Q99715-1] NP_542376.2, NM_080645.2 [Q99715-2] |
3D structure databases
SMRi | Q99715 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107700, 65 interactors |
ComplexPortali | CPX-1753, Collagen type XII trimer |
IntActi | Q99715, 9 interactors |
STRINGi | 9606.ENSP00000325146 |
PTM databases
GlyConnecti | 1131, 70 N-Linked glycans (4 sites) |
GlyGeni | Q99715, 14 sites, 82 N-linked glycans (4 sites), 9 O-linked glycans (6 sites) |
iPTMneti | Q99715 |
PhosphoSitePlusi | Q99715 |
Genetic variation databases
BioMutai | COL12A1 |
DMDMi | 146345397 |
Proteomic databases
EPDi | Q99715 |
jPOSTi | Q99715 |
MassIVEi | Q99715 |
MaxQBi | Q99715 |
PaxDbi | Q99715 |
PeptideAtlasi | Q99715 |
PRIDEi | Q99715 |
ProteomicsDBi | 78429 [Q99715-1] 78430 [Q99715-2] 78431 [Q99715-4] |
Protocols and materials databases
Antibodypediai | 2124, 100 antibodies from 19 providers |
DNASUi | 1303 |
Genome annotation databases
Ensembli | ENST00000322507.13; ENSP00000325146.8; ENSG00000111799.22 ENST00000345356.10; ENSP00000305147.9; ENSG00000111799.22 [Q99715-2] ENST00000416123.6; ENSP00000412864.2; ENSG00000111799.22 [Q99715-4] |
GeneIDi | 1303 |
KEGGi | hsa:1303 |
MANE-Selecti | ENST00000322507.13; ENSP00000325146.8; NM_004370.6; NP_004361.3 |
UCSCi | uc063ppm.1, human [Q99715-1] |
Organism-specific databases
CTDi | 1303 |
DisGeNETi | 1303 |
GeneCardsi | COL12A1 |
HGNCi | HGNC:2188, COL12A1 |
HPAi | ENSG00000111799, Tissue enhanced (endometrium) |
MalaCardsi | COL12A1 |
MIMi | 120320, gene 616470, phenotype 616471, phenotype |
neXtProti | NX_Q99715 |
OpenTargetsi | ENSG00000111799 |
Orphaneti | 610, Bethlem myopathy 75840, Congenital muscular dystrophy, Ullrich type 536516, Myopathic Ehlers-Danlos syndrome |
PharmGKBi | PA26704 |
VEuPathDBi | HostDB:ENSG00000111799 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3544, Eukaryota |
GeneTreei | ENSGT00940000154923 |
HOGENOMi | CLU_000467_0_0_1 |
InParanoidi | Q99715 |
OMAi | KAEIQKC |
OrthoDBi | 67372at2759 |
PhylomeDBi | Q99715 |
TreeFami | TF329914 |
Enzyme and pathway databases
PathwayCommonsi | Q99715 |
Reactomei | R-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 |
SignaLinki | Q99715 |
SIGNORi | Q99715 |
Miscellaneous databases
BioGRID-ORCSi | 1303, 5 hits in 1068 CRISPR screens |
ChiTaRSi | COL12A1, human |
GeneWikii | Collagen,_type_XII,_alpha_1 |
GenomeRNAii | 1303 |
Pharosi | Q99715, Tbio |
PROi | PR:Q99715 |
RNActi | Q99715, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000111799, Expressed in tibia and 206 other tissues |
ExpressionAtlasi | Q99715, baseline and differential |
Genevisiblei | Q99715, HS |
Family and domain databases
CDDi | cd00063, FN3, 18 hits |
Gene3Di | 2.60.40.10, 18 hits 3.40.50.410, 4 hits |
InterProi | View protein in InterPro 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 |
Pfami | View protein in Pfam PF01391, Collagen, 4 hits PF00041, fn3, 18 hits PF00092, VWA, 4 hits |
SMARTi | View protein in SMART SM00060, FN3, 18 hits SM00210, TSPN, 1 hit SM00327, VWA, 4 hits |
SUPFAMi | SSF49265, SSF49265, 11 hits SSF49899, SSF49899, 1 hit SSF53300, SSF53300, 4 hits |
PROSITEi | View protein in PROSITE PS50853, FN3, 18 hits PS50234, VWFA, 4 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | COCA1_HUMAN | |
Accessioni | Q99715Primary (citable) accession number: Q99715 Secondary accession number(s): O43853 Q99716 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | May 1, 2007 | |
Last modified: | May 25, 2022 | |
This is version 203 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families