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Protein

Collagen alpha-1(VI) chain

Gene

COL6A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Collagen VI acts as a cell-binding protein.

GO - Molecular functioni

  • platelet-derived growth factor binding Source: MGI

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • cellular response to amino acid stimulus Source: Ensembl
  • collagen catabolic process Source: Reactome
  • endodermal cell differentiation Source: UniProtKB
  • extracellular matrix organization Source: Reactome
  • osteoblast differentiation Source: UniProtKB
  • protein heterotrimerization Source: MGI
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000142156-MONOMER.
ReactomeiR-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.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(VI) chain
Gene namesi
Name:COL6A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:2211. COL6A1.

Subcellular locationi

GO - Cellular componenti

  • collagen type VI trimer Source: UniProtKB
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: MGI
  • lysosomal membrane Source: UniProtKB
  • membrane Source: UniProtKB
  • protein complex Source: MGI
  • sarcolemma Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Bethlem myopathy 1 (BTHLM1)4 Publications
The disease is caused by mutations 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.
See also OMIM:158810
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058213116S → N in BTHLM1. 2 PublicationsCorresponds to variant rs11553519dbSNPEnsembl.1
Natural variantiVAR_013580121K → R in BTHLM1. 1 PublicationCorresponds to variant rs121912936dbSNPEnsembl.1
Natural variantiVAR_058214272G → D in BTHLM1. 1 Publication1
Natural variantiVAR_058215274P → L in BTHLM1. 1 PublicationCorresponds to variant rs201093313dbSNPEnsembl.1
Natural variantiVAR_058216275G → R in BTHLM1. 1 Publication1
Natural variantiVAR_058219290G → R in BTHLM1 and UCMD1. 3 PublicationsCorresponds to variant rs121912939dbSNPEnsembl.1
Natural variantiVAR_013581305G → V in BTHLM1. 1 Publication1
Natural variantiVAR_013582341G → D in BTHLM1. 1 PublicationCorresponds to variant rs121912935dbSNPEnsembl.1
Natural variantiVAR_058221341G → V in BTHLM1. 2 Publications1
Natural variantiVAR_058222571K → T in BTHLM1. 1 PublicationCorresponds to variant rs751040647dbSNPEnsembl.1
Ullrich congenital muscular dystrophy 1 (UCMD1)2 Publications
The disease is caused by mutations 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.
See also OMIM:254090
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058217281G → R in UCMD1. 1 PublicationCorresponds to variant rs267606746dbSNPEnsembl.1
Natural variantiVAR_058218284G → 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 rs121912938dbSNPEnsembl.1
Natural variantiVAR_058219290G → R in BTHLM1 and UCMD1. 3 PublicationsCorresponds to variant rs121912939dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1291.
MalaCardsiCOL6A1.
MIMi158810. phenotype.
254090. phenotype.
OpenTargetsiENSG00000142156.
Orphaneti610. Bethlem myopathy.
75840. Congenital muscular dystrophy, Ullrich type.
PharmGKBiPA26727.

Chemistry databases

ChEMBLiCHEMBL2364188.

Polymorphism and mutation databases

BioMutaiCOL6A1.
DMDMi125987811.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Add BLAST19
ChainiPRO_000000575820 – 1028Collagen alpha-1(VI) chainAdd BLAST1009

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi212N-linked (GlcNAc...)1 Publication1
Glycosylationi516N-linked (GlcNAc...)1 Publication1
Glycosylationi537N-linked (GlcNAc...)Sequence analysis1
Glycosylationi804N-linked (GlcNAc...)1 Publication1
Glycosylationi896N-linked (GlcNAc...)1 Publication1

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, Hydroxylation

Proteomic databases

EPDiP12109.
MaxQBiP12109.
PaxDbiP12109.
PeptideAtlasiP12109.
PRIDEiP12109.

2D gel databases

REPRODUCTION-2DPAGEIPI00291136.
P12109.

PTM databases

iPTMnetiP12109.
PhosphoSitePlusiP12109.

Miscellaneous databases

PMAP-CutDBP12109.

Expressioni

Gene expression databases

BgeeiENSG00000142156.
CleanExiHS_COL6A1.
ExpressionAtlasiP12109. baseline and differential.
GenevisibleiP12109. HS.

Organism-specific databases

HPAiHPA019142.
HPA029401.

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

BioGridi107688. 24 interactors.
IntActiP12109. 12 interactors.
STRINGi9606.ENSP00000355180.

Structurei

3D structure databases

ProteinModelPortaliP12109.
SMRiP12109.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini37 – 235VWFA 1PROSITE-ProRule annotationAdd BLAST199
Domaini615 – 805VWFA 2PROSITE-ProRule annotationAdd BLAST191
Domaini829 – 1021VWFA 3PROSITE-ProRule annotationAdd BLAST193

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni20 – 256N-terminal globular domainAdd BLAST237
Regioni257 – 592Triple-helical regionAdd BLAST336
Regioni593 – 1028C-terminal globular domainAdd BLAST436

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi262 – 264Cell attachment site3
Motifi442 – 444Cell attachment site3
Motifi478 – 480Cell attachment site3

Sequence similaritiesi

Belongs to the type VI collagen family.Curated
Contains 3 VWFA domains.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410ZQTS. LUCA.
GeneTreeiENSGT00820000126981.
HOVERGENiHBG095954.
InParanoidiP12109.
KOiK06238.
OMAiVKENYAE.
OrthoDBiEOG091G01WB.
PhylomeDBiP12109.
TreeFamiTF331207.

Family and domain databases

Gene3Di3.40.50.410. 3 hits.
InterProiIPR008160. Collagen.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 5 hits.
PF00092. VWA. 3 hits.
[Graphical view]
SMARTiSM00327. VWA. 3 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 3 hits.
PROSITEiPS50234. VWFA. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P12109-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:1,028
Mass (Da):108,529
Last modified:February 6, 2007 - v3
Checksum:i04AFF538002A01CD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti387 – 388SS → AR in M20776 (PubMed:3198591).Curated2
Sequence conflicti387 – 388SS → AR in AAB20835 (PubMed:1765372).Curated2
Sequence conflicti396 – 397QP → PA in M20776 (PubMed:3198591).Curated2
Sequence conflicti396 – 397QP → PA in AAB20835 (PubMed:1765372).Curated2
Sequence conflicti438T → P in M20776 (PubMed:3198591).Curated1
Sequence conflicti835 – 839DGSAS → EPPPD in CAA33889 (PubMed:2551668).Curated5
Sequence conflicti997A → P in CAA67576 (PubMed:9107679).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058213116S → N in BTHLM1. 2 PublicationsCorresponds to variant rs11553519dbSNPEnsembl.1
Natural variantiVAR_013580121K → R in BTHLM1. 1 PublicationCorresponds to variant rs121912936dbSNPEnsembl.1
Natural variantiVAR_058214272G → D in BTHLM1. 1 Publication1
Natural variantiVAR_058215274P → L in BTHLM1. 1 PublicationCorresponds to variant rs201093313dbSNPEnsembl.1
Natural variantiVAR_058216275G → R in BTHLM1. 1 Publication1
Natural variantiVAR_058217281G → R in UCMD1. 1 PublicationCorresponds to variant rs267606746dbSNPEnsembl.1
Natural variantiVAR_058218284G → 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 rs121912938dbSNPEnsembl.1
Natural variantiVAR_058219290G → R in BTHLM1 and UCMD1. 3 PublicationsCorresponds to variant rs121912939dbSNPEnsembl.1
Natural variantiVAR_013581305G → V in BTHLM1. 1 Publication1
Natural variantiVAR_058220332G → S.Corresponds to variant rs11701912dbSNPEnsembl.1
Natural variantiVAR_013582341G → D in BTHLM1. 1 PublicationCorresponds to variant rs121912935dbSNPEnsembl.1
Natural variantiVAR_058221341G → V in BTHLM1. 2 Publications1
Natural variantiVAR_048763439R → Q.Corresponds to variant rs35059000dbSNPEnsembl.1
Natural variantiVAR_058222571K → T in BTHLM1. 1 PublicationCorresponds to variant rs751040647dbSNPEnsembl.1
Natural variantiVAR_048764850R → H.1 PublicationCorresponds to variant rs1053312dbSNPEnsembl.1
Natural variantiVAR_058223881T → M.1 PublicationCorresponds to variant rs150432347dbSNPEnsembl.1
Natural variantiVAR_058224890S → L.2 PublicationsCorresponds to variant rs13051496dbSNPEnsembl.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.
CCDSiCCDS13727.1.
PIRiS05377. CGHU1A.
RefSeqiNP_001839.2. NM_001848.2.
UniGeneiHs.474053.

Genome annotation databases

EnsembliENST00000361866; ENSP00000355180; ENSG00000142156.
GeneIDi1291.
KEGGihsa:1291.
UCSCiuc002zhu.2. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS13727.1.
PIRiS05377. CGHU1A.
RefSeqiNP_001839.2. NM_001848.2.
UniGeneiHs.474053.

3D structure databases

ProteinModelPortaliP12109.
SMRiP12109.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107688. 24 interactors.
IntActiP12109. 12 interactors.
STRINGi9606.ENSP00000355180.

Chemistry databases

ChEMBLiCHEMBL2364188.

PTM databases

iPTMnetiP12109.
PhosphoSitePlusiP12109.

Polymorphism and mutation databases

BioMutaiCOL6A1.
DMDMi125987811.

2D gel databases

REPRODUCTION-2DPAGEIPI00291136.
P12109.

Proteomic databases

EPDiP12109.
MaxQBiP12109.
PaxDbiP12109.
PeptideAtlasiP12109.
PRIDEiP12109.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361866; ENSP00000355180; ENSG00000142156.
GeneIDi1291.
KEGGihsa:1291.
UCSCiuc002zhu.2. human.

Organism-specific databases

CTDi1291.
DisGeNETi1291.
GeneCardsiCOL6A1.
GeneReviewsiCOL6A1.
HGNCiHGNC:2211. COL6A1.
HPAiHPA019142.
HPA029401.
MalaCardsiCOL6A1.
MIMi120220. gene.
158810. phenotype.
254090. phenotype.
neXtProtiNX_P12109.
OpenTargetsiENSG00000142156.
Orphaneti610. Bethlem myopathy.
75840. Congenital muscular dystrophy, Ullrich type.
PharmGKBiPA26727.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410ZQTS. LUCA.
GeneTreeiENSGT00820000126981.
HOVERGENiHBG095954.
InParanoidiP12109.
KOiK06238.
OMAiVKENYAE.
OrthoDBiEOG091G01WB.
PhylomeDBiP12109.
TreeFamiTF331207.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000142156-MONOMER.
ReactomeiR-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.

Miscellaneous databases

ChiTaRSiCOL6A1. human.
GeneWikiiCollagen,_type_VI,_alpha_1.
GenomeRNAii1291.
PMAP-CutDBP12109.
PROiP12109.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000142156.
CleanExiHS_COL6A1.
ExpressionAtlasiP12109. baseline and differential.
GenevisibleiP12109. HS.

Family and domain databases

Gene3Di3.40.50.410. 3 hits.
InterProiIPR008160. Collagen.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 5 hits.
PF00092. VWA. 3 hits.
[Graphical view]
SMARTiSM00327. VWA. 3 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 3 hits.
PROSITEiPS50234. VWFA. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCO6A1_HUMAN
AccessioniPrimary (citable) accession number: P12109
Secondary accession number(s): O00117
, O00118, Q14040, Q14041, Q16258, Q7Z645, Q9BSA8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: February 6, 2007
Last modified: November 2, 2016
This is version 178 of the entry and version 3 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 21
    Human chromosome 21: 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.