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UniProtKB - P12109 (CO6A1_HUMAN)
Protein
Collagen alpha-1(VI) chain
Gene
COL6A1
Organism
Homo sapiens (Human)
Status
Functioni
Collagen VI acts as a cell-binding protein.
GO - Molecular functioni
- collagen binding Source: MGI
- extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL
- platelet-derived growth factor binding Source: MGI
GO - Biological processi
- cell adhesion Source: UniProtKB-KW
- cellular response to amino acid stimulus Source: Ensembl
- endodermal cell differentiation Source: UniProtKB
- osteoblast differentiation Source: UniProtKB
Keywordsi
Biological process | Cell adhesion |
Enzyme and pathway databases
PathwayCommonsi | P12109 |
Reactomei | R-HSA-1442490, Collagen degradation R-HSA-1650814, Collagen biosynthesis and modifying enzymes R-HSA-186797, Signaling by PDGF R-HSA-2022090, Assembly of collagen fibrils and other multimeric structures R-HSA-216083, Integrin cell surface interactions R-HSA-3000178, ECM proteoglycans R-HSA-419037, NCAM1 interactions R-HSA-8948216, Collagen chain trimerization |
SignaLinki | P12109 |
SIGNORi | P12109 |
Names & Taxonomyi
Protein namesi | Recommended name: Collagen alpha-1(VI) chain |
Gene namesi | Name:COL6A1 |
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:2211, COL6A1 |
MIMi | 120220, gene |
neXtProti | NX_P12109 |
VEuPathDBi | HostDB:ENSG00000142156 |
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: MGI
- extracellular space Source: GO_Central
Lysosome
- lysosomal membrane Source: UniProtKB
Plasma Membrane
- sarcolemma Source: Ensembl
Other locations
- collagen type VI trimer Source: UniProtKB
- collagen-containing extracellular matrix Source: UniProtKB
- membrane Source: UniProtKB
- protein-containing complex Source: MGI
Keywords - Cellular componenti
Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Bethlem myopathy 1 (BTHLM1)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013580 | 121 | K → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912936EnsemblClinVar. | 1 | |
Natural variantiVAR_058214 | 272 | G → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs1064793840EnsemblClinVar. | 1 | |
Natural variantiVAR_058215 | 274 | P → L in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs201093313EnsemblClinVar. | 1 | |
Natural variantiVAR_058216 | 275 | G → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs1556425467EnsemblClinVar. | 1 | |
Natural variantiVAR_058219 | 290 | G → R in BTHLM1 and UCMD1. 3 PublicationsCorresponds to variant dbSNP:rs121912939EnsemblClinVar. | 1 | |
Natural variantiVAR_013581 | 305 | G → V in BTHLM1. 1 Publication | 1 | |
Natural variantiVAR_013582 | 341 | G → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912935EnsemblClinVar. | 1 | |
Natural variantiVAR_058221 | 341 | G → V in BTHLM1. 2 PublicationsCorresponds to variant dbSNP:rs121912935EnsemblClinVar. | 1 | |
Natural variantiVAR_058222 | 571 | K → T in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs751040647EnsemblClinVar. | 1 |
Ullrich congenital muscular dystrophy 1 (UCMD1)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_058217 | 281 | G → R in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606746EnsemblClinVar. | 1 | |
Natural variantiVAR_058218 | 284 | G → R in UCMD1; fibroblasts with the mutation assembled and secreted normal collagen VI microfibrils; cell adhesion of heterozygous Arg-284 fibroblasts is markedly decreased but can be rescued by the addition of normal collagen VI. 3 PublicationsCorresponds to variant dbSNP:rs121912938EnsemblClinVar. | 1 | |
Natural variantiVAR_058219 | 290 | G → R in BTHLM1 and UCMD1. 3 PublicationsCorresponds to variant dbSNP:rs121912939EnsemblClinVar. | 1 |
A mutation in COL6A1 is the cause of autosomal recessive limb-girdle muscular dystrophy. The affected individual with a homozygous recessive COL6A1 mutation showed progressive muscle weakness with an onset at the age of 4 years and loss of ambulation at the age of 15 years. Muscle biopsy showed end stage dystrophy.1 Publication
Keywords - Diseasei
Congenital muscular dystrophy, Disease variant, Limb-girdle muscular dystrophyOrganism-specific databases
DisGeNETi | 1291 |
GeneReviewsi | COL6A1 |
MalaCardsi | COL6A1 |
MIMi | 158810, phenotype 254090, phenotype |
OpenTargetsi | ENSG00000142156 |
Orphaneti | 610, Bethlem myopathy 75840, Congenital muscular dystrophy, Ullrich type |
PharmGKBi | PA26727 |
Miscellaneous databases
Pharosi | P12109, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2364188 |
Genetic variation databases
BioMutai | COL6A1 |
DMDMi | 125987811 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 19 | Add BLAST | 19 | |
ChainiPRO_0000005758 | 20 – 1028 | Collagen alpha-1(VI) chainAdd BLAST | 1009 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 212 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 516 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 537 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 804 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 896 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Post-translational modificationi
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Keywords - PTMi
Glycoprotein, HydroxylationProteomic databases
EPDi | P12109 |
jPOSTi | P12109 |
MassIVEi | P12109 |
MaxQBi | P12109 |
PaxDbi | P12109 |
PeptideAtlasi | P12109 |
PRIDEi | P12109 |
ProteomicsDBi | 52829 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00291136 P12109 |
PTM databases
GlyConnecti | 1129, 30 N-Linked glycans (3 sites) |
GlyGeni | P12109, 8 sites, 29 N-linked glycans (3 sites), 2 O-linked glycans (3 sites) |
iPTMneti | P12109 |
MetOSitei | P12109 |
PhosphoSitePlusi | P12109 |
Expressioni
Gene expression databases
Bgeei | ENSG00000142156, Expressed in tendon of biceps brachii and 246 other tissues |
ExpressionAtlasi | P12109, baseline and differential |
Genevisiblei | P12109, HS |
Organism-specific databases
HPAi | ENSG00000142156, Low tissue specificity |
Interactioni
Subunit structurei
Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).
GO - Molecular functioni
- platelet-derived growth factor binding Source: MGI
Protein-protein interaction databases
BioGRIDi | 107688, 132 interactors |
ComplexPortali | CPX-1736, Collagen type VI trimer |
IntActi | P12109, 37 interactors |
MINTi | P12109 |
STRINGi | 9606.ENSP00000355180 |
Miscellaneous databases
RNActi | P12109, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 37 – 235 | VWFA 1PROSITE-ProRule annotationAdd BLAST | 199 | |
Domaini | 615 – 805 | VWFA 2PROSITE-ProRule annotationAdd BLAST | 191 | |
Domaini | 829 – 1021 | VWFA 3PROSITE-ProRule annotationAdd BLAST | 193 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 20 – 256 | N-terminal globular domainAdd BLAST | 237 | |
Regioni | 254 – 590 | DisorderedSequence analysisAdd BLAST | 337 | |
Regioni | 257 – 592 | Triple-helical regionAdd BLAST | 336 | |
Regioni | 593 – 1028 | C-terminal globular domainAdd BLAST | 436 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 262 – 264 | Cell attachment site | 3 | |
Motifi | 442 – 444 | Cell attachment site | 3 | |
Motifi | 478 – 480 | Cell attachment site | 3 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 303 – 331 | Basic and acidic residuesSequence analysisAdd BLAST | 29 |
Sequence similaritiesi
Belongs to the type VI collagen family.Curated
Keywords - Domaini
Collagen, Repeat, SignalPhylogenomic databases
eggNOGi | KOG3544, Eukaryota |
GeneTreei | ENSGT00940000162889 |
HOGENOMi | CLU_009158_1_0_1 |
InParanoidi | P12109 |
OMAi | TTQICID |
OrthoDBi | 140989at2759 |
PhylomeDBi | P12109 |
TreeFami | TF331207 |
Family and domain databases
Gene3Di | 3.40.50.410, 3 hits |
InterProi | View protein in InterPro IPR008160, Collagen IPR002035, VWF_A IPR036465, vWFA_dom_sf |
Pfami | View protein in Pfam PF01391, Collagen, 5 hits PF00092, VWA, 3 hits |
SMARTi | View protein in SMART SM00327, VWA, 3 hits |
SUPFAMi | SSF53300, SSF53300, 3 hits |
PROSITEi | View protein in PROSITE PS50234, VWFA, 3 hits |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
P12109-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MRAARALLPL LLQACWTAAQ DEPETPRAVA FQDCPVDLFF VLDTSESVAL
60 70 80 90 100
RLKPYGALVD KVKSFTKRFI DNLRDRYYRC DRNLVWNAGA LHYSDEVEII
110 120 130 140 150
QGLTRMPGGR DALKSSVDAV KYFGKGTYTD CAIKKGLEQL LVGGSHLKEN
160 170 180 190 200
KYLIVVTDGH PLEGYKEPCG GLEDAVNEAK HLGVKVFSVA ITPDHLEPRL
210 220 230 240 250
SIIATDHTYR RNFTAADWGQ SRDAEEAISQ TIDTIVDMIK NNVEQVCCSF
260 270 280 290 300
ECQPARGPPG LRGDPGFEGE RGKPGLPGEK GEAGDPGRPG DLGPVGYQGM
310 320 330 340 350
KGEKGSRGEK GSRGPKGYKG EKGKRGIDGV DGVKGEMGYP GLPGCKGSPG
360 370 380 390 400
FDGIQGPPGP KGDPGAFGLK GEKGEPGADG EAGRPGSSGP SGDEGQPGEP
410 420 430 440 450
GPPGEKGEAG DEGNPGPDGA PGERGGPGER GPRGTPGTRG PRGDPGEAGP
460 470 480 490 500
QGDQGREGPV GVPGDPGEAG PIGPKGYRGD EGPPGSEGAR GAPGPAGPPG
510 520 530 540 550
DPGLMGERGE DGPAGNGTEG FPGFPGYPGN RGAPGINGTK GYPGLKGDEG
560 570 580 590 600
EAGDPGDDNN DIAPRGVKGA KGYRGPEGPQ GPPGHQGPPG PDECEILDII
610 620 630 640 650
MKMCSCCECK CGPIDLLFVL DSSESIGLQN FEIAKDFVVK VIDRLSRDEL
660 670 680 690 700
VKFEPGQSYA GVVQYSHSQM QEHVSLRSPS IRNVQELKEA IKSLQWMAGG
710 720 730 740 750
TFTGEALQYT RDQLLPPSPN NRIALVITDG RSDTQRDTTP LNVLCSPGIQ
760 770 780 790 800
VVSVGIKDVF DFIPGSDQLN VISCQGLAPS QGRPGLSLVK ENYAELLEDA
810 820 830 840 850
FLKNVTAQIC IDKKCPDYTC PITFSSPADI TILLDGSASV GSHNFDTTKR
860 870 880 890 900
FAKRLAERFL TAGRTDPAHD VRVAVVQYSG TGQQRPERAS LQFLQNYTAL
910 920 930 940 950
ASAVDAMDFI NDATDVNDAL GYVTRFYREA SSGAAKKRLL LFSDGNSQGA
960 970 980 990 1000
TPAAIEKAVQ EAQRAGIEIF VVVVGRQVNE PHIRVLVTGK TAEYDVAYGE
1010 1020
SHLFRVPSYQ ALLRGVFHQT VSRKVALG
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087X0S5 | A0A087X0S5_HUMAN | Collagen alpha-1(VI) chain | COL6A1 | 450 | Annotation score: | ||
A0A804HJ28 | A0A804HJ28_HUMAN | Collagen alpha-1(VI) chain | COL6A1 | 403 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 387 – 388 | SS → AR in M20776 (PubMed:3198591).Curated | 2 | |
Sequence conflicti | 387 – 388 | SS → AR in AAB20835 (PubMed:1765372).Curated | 2 | |
Sequence conflicti | 396 – 397 | QP → PA in M20776 (PubMed:3198591).Curated | 2 | |
Sequence conflicti | 396 – 397 | QP → PA in AAB20835 (PubMed:1765372).Curated | 2 | |
Sequence conflicti | 438 | T → P in M20776 (PubMed:3198591).Curated | 1 | |
Sequence conflicti | 835 – 839 | DGSAS → EPPPD in CAA33889 (PubMed:2551668).Curated | 5 | |
Sequence conflicti | 997 | A → P in CAA67576 (PubMed:9107679).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081097 | 43 | D → A Probable disease-associated variant found in a patient with limb-girdle muscular dystrophy. 1 PublicationCorresponds to variant dbSNP:rs786205555EnsemblClinVar. | 1 | |
Natural variantiVAR_058213 | 116 | S → N2 PublicationsCorresponds to variant dbSNP:rs11553519EnsemblClinVar. | 1 | |
Natural variantiVAR_013580 | 121 | K → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912936EnsemblClinVar. | 1 | |
Natural variantiVAR_058214 | 272 | G → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs1064793840EnsemblClinVar. | 1 | |
Natural variantiVAR_058215 | 274 | P → L in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs201093313EnsemblClinVar. | 1 | |
Natural variantiVAR_058216 | 275 | G → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs1556425467EnsemblClinVar. | 1 | |
Natural variantiVAR_058217 | 281 | G → R in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606746EnsemblClinVar. | 1 | |
Natural variantiVAR_058218 | 284 | G → R in UCMD1; fibroblasts with the mutation assembled and secreted normal collagen VI microfibrils; cell adhesion of heterozygous Arg-284 fibroblasts is markedly decreased but can be rescued by the addition of normal collagen VI. 3 PublicationsCorresponds to variant dbSNP:rs121912938EnsemblClinVar. | 1 | |
Natural variantiVAR_058219 | 290 | G → R in BTHLM1 and UCMD1. 3 PublicationsCorresponds to variant dbSNP:rs121912939EnsemblClinVar. | 1 | |
Natural variantiVAR_013581 | 305 | G → V in BTHLM1. 1 Publication | 1 | |
Natural variantiVAR_058220 | 332 | G → S. Corresponds to variant dbSNP:rs11701912EnsemblClinVar. | 1 | |
Natural variantiVAR_013582 | 341 | G → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912935EnsemblClinVar. | 1 | |
Natural variantiVAR_058221 | 341 | G → V in BTHLM1. 2 PublicationsCorresponds to variant dbSNP:rs121912935EnsemblClinVar. | 1 | |
Natural variantiVAR_048763 | 439 | R → Q. Corresponds to variant dbSNP:rs35059000EnsemblClinVar. | 1 | |
Natural variantiVAR_058222 | 571 | K → T in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs751040647EnsemblClinVar. | 1 | |
Natural variantiVAR_048764 | 850 | R → H1 PublicationCorresponds to variant dbSNP:rs1053312EnsemblClinVar. | 1 | |
Natural variantiVAR_058223 | 881 | T → M1 PublicationCorresponds to variant dbSNP:rs150432347EnsemblClinVar. | 1 | |
Natural variantiVAR_058224 | 890 | S → L2 PublicationsCorresponds to variant dbSNP:rs13051496EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X15879 mRNA Translation: CAA33888.1 X15880 mRNA Translation: CAA33889.1 BC005159 mRNA Translation: AAH05159.2 BC052575 mRNA Translation: AAH52575.1 X99109 Genomic DNA Translation: CAA67559.1 X99135, X99136 Genomic DNA Translation: CAA67576.1 M20776 mRNA No translation available. S75420 , S75385, S75388, S75390, S75392, S75394, S75396, S75398, S75400, S75402, S75404, S75406, S75408, S75410, S75412, S75414, S75416, S75418 Genomic DNA Translation: AAB20835.2 X06194 mRNA Translation: CAA29555.1 M27447 mRNA Translation: AAA52055.1 |
CCDSi | CCDS13727.1 |
PIRi | S05377, CGHU1A |
RefSeqi | NP_001839.2, NM_001848.2 |
Genome annotation databases
Ensembli | ENST00000361866.8; ENSP00000355180.3; ENSG00000142156.16 |
GeneIDi | 1291 |
KEGGi | hsa:1291 |
MANE-Selecti | ENST00000361866.8; ENSP00000355180.3; NM_001848.3; NP_001839.2 |
UCSCi | uc002zhu.2, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X15879 mRNA Translation: CAA33888.1 X15880 mRNA Translation: CAA33889.1 BC005159 mRNA Translation: AAH05159.2 BC052575 mRNA Translation: AAH52575.1 X99109 Genomic DNA Translation: CAA67559.1 X99135, X99136 Genomic DNA Translation: CAA67576.1 M20776 mRNA No translation available. S75420 , S75385, S75388, S75390, S75392, S75394, S75396, S75398, S75400, S75402, S75404, S75406, S75408, S75410, S75412, S75414, S75416, S75418 Genomic DNA Translation: AAB20835.2 X06194 mRNA Translation: CAA29555.1 M27447 mRNA Translation: AAA52055.1 |
CCDSi | CCDS13727.1 |
PIRi | S05377, CGHU1A |
RefSeqi | NP_001839.2, NM_001848.2 |
3D structure databases
AlphaFoldDBi | P12109 |
SMRi | P12109 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107688, 132 interactors |
ComplexPortali | CPX-1736, Collagen type VI trimer |
IntActi | P12109, 37 interactors |
MINTi | P12109 |
STRINGi | 9606.ENSP00000355180 |
Chemistry databases
ChEMBLi | CHEMBL2364188 |
PTM databases
GlyConnecti | 1129, 30 N-Linked glycans (3 sites) |
GlyGeni | P12109, 8 sites, 29 N-linked glycans (3 sites), 2 O-linked glycans (3 sites) |
iPTMneti | P12109 |
MetOSitei | P12109 |
PhosphoSitePlusi | P12109 |
Genetic variation databases
BioMutai | COL6A1 |
DMDMi | 125987811 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00291136 P12109 |
Proteomic databases
EPDi | P12109 |
jPOSTi | P12109 |
MassIVEi | P12109 |
MaxQBi | P12109 |
PaxDbi | P12109 |
PeptideAtlasi | P12109 |
PRIDEi | P12109 |
ProteomicsDBi | 52829 |
Protocols and materials databases
Antibodypediai | 10507, 377 antibodies from 39 providers |
DNASUi | 1291 |
Genome annotation databases
Ensembli | ENST00000361866.8; ENSP00000355180.3; ENSG00000142156.16 |
GeneIDi | 1291 |
KEGGi | hsa:1291 |
MANE-Selecti | ENST00000361866.8; ENSP00000355180.3; NM_001848.3; NP_001839.2 |
UCSCi | uc002zhu.2, human |
Organism-specific databases
CTDi | 1291 |
DisGeNETi | 1291 |
GeneCardsi | COL6A1 |
GeneReviewsi | COL6A1 |
HGNCi | HGNC:2211, COL6A1 |
HPAi | ENSG00000142156, Low tissue specificity |
MalaCardsi | COL6A1 |
MIMi | 120220, gene 158810, phenotype 254090, phenotype |
neXtProti | NX_P12109 |
OpenTargetsi | ENSG00000142156 |
Orphaneti | 610, Bethlem myopathy 75840, Congenital muscular dystrophy, Ullrich type |
PharmGKBi | PA26727 |
VEuPathDBi | HostDB:ENSG00000142156 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3544, Eukaryota |
GeneTreei | ENSGT00940000162889 |
HOGENOMi | CLU_009158_1_0_1 |
InParanoidi | P12109 |
OMAi | TTQICID |
OrthoDBi | 140989at2759 |
PhylomeDBi | P12109 |
TreeFami | TF331207 |
Enzyme and pathway databases
PathwayCommonsi | P12109 |
Reactomei | R-HSA-1442490, Collagen degradation R-HSA-1650814, Collagen biosynthesis and modifying enzymes R-HSA-186797, Signaling by PDGF R-HSA-2022090, Assembly of collagen fibrils and other multimeric structures R-HSA-216083, Integrin cell surface interactions R-HSA-3000178, ECM proteoglycans R-HSA-419037, NCAM1 interactions R-HSA-8948216, Collagen chain trimerization |
SignaLinki | P12109 |
SIGNORi | P12109 |
Miscellaneous databases
BioGRID-ORCSi | 1291, 25 hits in 1083 CRISPR screens |
ChiTaRSi | COL6A1, human |
GeneWikii | Collagen,_type_VI,_alpha_1 |
GenomeRNAii | 1291 |
Pharosi | P12109, Tbio |
PROi | PR:P12109 |
RNActi | P12109, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000142156, Expressed in tendon of biceps brachii and 246 other tissues |
ExpressionAtlasi | P12109, baseline and differential |
Genevisiblei | P12109, HS |
Family and domain databases
Gene3Di | 3.40.50.410, 3 hits |
InterProi | View protein in InterPro IPR008160, Collagen IPR002035, VWF_A IPR036465, vWFA_dom_sf |
Pfami | View protein in Pfam PF01391, Collagen, 5 hits PF00092, VWA, 3 hits |
SMARTi | View protein in SMART SM00327, VWA, 3 hits |
SUPFAMi | SSF53300, SSF53300, 3 hits |
PROSITEi | View protein in PROSITE PS50234, VWFA, 3 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | CO6A1_HUMAN | |
Accessioni | P12109Primary (citable) accession number: P12109 Secondary accession number(s): O00117 Q9BSA8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1989 |
Last sequence update: | February 6, 2007 | |
Last modified: | May 25, 2022 | |
This is version 219 of the entry and version 3 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 21
Human chromosome 21: 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