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UniProtKB - P12109 (CO6A1_HUMAN)

Protein

Collagen alpha-1(VI) chain

Gene

COL6A1

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

Functioni

Collagen VI acts as a cell-binding protein.

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

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-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
SIGNORiP12109

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(VI) chain
Gene namesi
Name:COL6A1
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 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000142156.14
HGNCiHGNC:2211 COL6A1
MIMi120220 gene
neXtProtiNX_P12109

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

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 dbSNP:rs11553519EnsemblClinVar.1
Natural variantiVAR_013580121K → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912936EnsemblClinVar.1
Natural variantiVAR_058214272G → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs1064793840Ensembl.1
Natural variantiVAR_058215274P → L in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs201093313EnsemblClinVar.1
Natural variantiVAR_058216275G → R in BTHLM1. 1 Publication1
Natural variantiVAR_013581305G → V in BTHLM1. 1 Publication1
Natural variantiVAR_013582341G → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912935EnsemblClinVar.1
Natural variantiVAR_058221341G → V in BTHLM1. 2 PublicationsCorresponds to variant dbSNP:rs121912935EnsemblClinVar.1
Natural variantiVAR_058222571K → T in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs751040647EnsemblClinVar.1
Ullrich congenital muscular dystrophy 1 (UCMD1)3 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 dbSNP:rs267606746EnsemblClinVar.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 dbSNP:rs121912938EnsemblClinVar.1

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation

Organism-specific databases

DisGeNETi1291
GeneReviewsiCOL6A1
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...) asparagine1 Publication1
Glycosylationi516N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi537N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi804N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi896N-linked (GlcNAc...) asparagine1 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
ProteomicsDBi52829

2D gel databases

REPRODUCTION-2DPAGEiIPI00291136
P12109

PTM databases

GlyConnecti1129
iPTMnetiP12109
PhosphoSitePlusiP12109

Miscellaneous databases

PMAP-CutDBiP12109

Expressioni

Gene expression databases

BgeeiENSG00000142156 Expressed in 235 organ(s), highest expression level in tendon of biceps brachii
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

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107688, 29 interactors
ComplexPortaliCPX-1736 Collagen type VI trimer
IntActiP12109, 14 interactors
MINTiP12109
STRINGi9606.ENSP00000355180

Structurei

3D structure databases

ProteinModelPortaliP12109
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

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
InterProiView protein in InterPro
IPR008160 Collagen
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF01391 Collagen, 5 hits
PF00092 VWA, 3 hits
SMARTiView protein in SMART
SM00327 VWA, 3 hits
SUPFAMiSSF53300 SSF53300, 3 hits
PROSITEiView protein in PROSITE
PS50234 VWFA, 3 hits

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X0S5A0A087X0S5_HUMAN
Collagen alpha-1(VI) chain
COL6A1
1,026Annotation score:

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 dbSNP:rs11553519EnsemblClinVar.1
Natural variantiVAR_013580121K → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912936EnsemblClinVar.1
Natural variantiVAR_058214272G → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs1064793840Ensembl.1
Natural variantiVAR_058215274P → L in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs201093313EnsemblClinVar.1
Natural variantiVAR_058216275G → R in BTHLM1. 1 Publication1
Natural variantiVAR_058217281G → R in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606746EnsemblClinVar.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 dbSNP:rs121912938EnsemblClinVar.1
Natural variantiVAR_058219290G → R in BTHLM1 and UCMD1. 3 PublicationsCorresponds to variant dbSNP:rs121912939EnsemblClinVar.1
Natural variantiVAR_013581305G → V in BTHLM1. 1 Publication1
Natural variantiVAR_058220332G → S. Corresponds to variant dbSNP:rs11701912Ensembl.1
Natural variantiVAR_013582341G → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912935EnsemblClinVar.1
Natural variantiVAR_058221341G → V in BTHLM1. 2 PublicationsCorresponds to variant dbSNP:rs121912935EnsemblClinVar.1
Natural variantiVAR_048763439R → Q. Corresponds to variant dbSNP:rs35059000EnsemblClinVar.1
Natural variantiVAR_058222571K → T in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs751040647EnsemblClinVar.1
Natural variantiVAR_048764850R → H1 PublicationCorresponds to variant dbSNP:rs1053312EnsemblClinVar.1
Natural variantiVAR_058223881T → M1 PublicationCorresponds to variant dbSNP:rs150432347EnsemblClinVar.1
Natural variantiVAR_058224890S → 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
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

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

3D structure databases

ProteinModelPortaliP12109
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107688, 29 interactors
ComplexPortaliCPX-1736 Collagen type VI trimer
IntActiP12109, 14 interactors
MINTiP12109
STRINGi9606.ENSP00000355180

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

GlyConnecti1129
iPTMnetiP12109
PhosphoSitePlusiP12109

Polymorphism and mutation databases

BioMutaiCOL6A1
DMDMi125987811

2D gel databases

REPRODUCTION-2DPAGEiIPI00291136
P12109

Proteomic databases

EPDiP12109
MaxQBiP12109
PaxDbiP12109
PeptideAtlasiP12109
PRIDEiP12109
ProteomicsDBi52829

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1291
DisGeNETi1291
EuPathDBiHostDB:ENSG00000142156.14
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

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
R-HSA-8948216 Collagen chain trimerization
SIGNORiP12109

Miscellaneous databases

ChiTaRSiCOL6A1 human
GeneWikiiCollagen,_type_VI,_alpha_1
GenomeRNAii1291
PMAP-CutDBiP12109
PROiPR:P12109
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000142156 Expressed in 235 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_COL6A1
ExpressionAtlasiP12109 baseline and differential
GenevisibleiP12109 HS

Family and domain databases

Gene3Di3.40.50.410, 3 hits
InterProiView protein in InterPro
IPR008160 Collagen
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF01391 Collagen, 5 hits
PF00092 VWA, 3 hits
SMARTiView protein in SMART
SM00327 VWA, 3 hits
SUPFAMiSSF53300 SSF53300, 3 hits
PROSITEiView protein in PROSITE
PS50234 VWFA, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCO6A1_HUMAN
AccessioniPrimary (citable) accession number: P12109
Secondary accession number(s): O00117
, O00118, Q14040, Q14041, Q16258, Q7Z645, Q9BSA8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: February 6, 2007
Last modified: October 10, 2018
This is version 197 of the entry and version 3 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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