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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Collagen VI acts as a cell-binding protein.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • cellular response to amino acid stimulus Source: Ensembl
  • endodermal cell differentiation Source: UniProtKB
  • extracellular matrix organization Source: Reactome
  • growth plate cartilage chondrocyte morphogenesis Source: GO_Central
  • osteoblast differentiation Source: UniProtKB
  • protein heterotrimerization Source: MGI

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
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

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P12109

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Collagen alpha-1(VI) chain
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COL6A1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000142156.14

Human Gene Nomenclature Database

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HGNCi
HGNC:2211 COL6A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
120220 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P12109

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
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 mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNET

More...
DisGeNETi
1291

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
COL6A1

MalaCards human disease database

More...
MalaCardsi
COL6A1
MIMi158810 phenotype
254090 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000142156

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
610 Bethlem myopathy
75840 Congenital muscular dystrophy, Ullrich type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26727

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2364188

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL6A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
125987811

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19Add BLAST19
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000575820 – 1028Collagen alpha-1(VI) chainAdd BLAST1009

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
P12109

MaxQB - The MaxQuant DataBase

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MaxQBi
P12109

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P12109

PeptideAtlas

More...
PeptideAtlasi
P12109

PRoteomics IDEntifications database

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PRIDEi
P12109

ProteomicsDB human proteome resource

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ProteomicsDBi
52829

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00291136
P12109

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1129

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P12109

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P12109

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P12109

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000142156 Expressed in 235 organ(s), highest expression level in tendon of biceps brachii

CleanEx database of gene expression profiles

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CleanExi
HS_COL6A1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P12109 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P12109 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA019142
HPA029401

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107688, 29 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1736 Collagen type VI trimer

Protein interaction database and analysis system

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IntActi
P12109, 14 interactors

Molecular INTeraction database

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MINTi
P12109

STRING: functional protein association networks

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STRINGi
9606.ENSP00000355180

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P12109

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P12109

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini37 – 235VWFA 1PROSITE-ProRule annotationAdd BLAST199
Domaini615 – 805VWFA 2PROSITE-ProRule annotationAdd BLAST191
Domaini829 – 1021VWFA 3PROSITE-ProRule annotationAdd BLAST193

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni20 – 256N-terminal globular domainAdd BLAST237
Regioni257 – 592Triple-helical regionAdd BLAST336
Regioni593 – 1028C-terminal globular domainAdd BLAST436

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi262 – 264Cell attachment site3
Motifi442 – 444Cell attachment site3
Motifi478 – 480Cell attachment site3

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the type VI collagen family.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3544 Eukaryota
ENOG410ZQTS LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000162889

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG095954

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P12109

KEGG Orthology (KO)

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KOi
K06238

Identification of Orthologs from Complete Genome Data

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OMAi
GDPGEDN

Database of Orthologous Groups

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OrthoDBi
EOG091G01WB

Database for complete collections of gene phylogenies

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PhylomeDBi
P12109

TreeFam database of animal gene trees

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TreeFami
TF331207

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.410, 3 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008160 Collagen
IPR002035 VWF_A
IPR036465 vWFA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 5 hits
PF00092 VWA, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00327 VWA, 3 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53300 SSF53300, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50234 VWFA, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i04AFF538002A01CD
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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_08109743D → A Probable disease-associated mutation found in a patient with limb-girdle muscular dystrophy. 1 Publication1
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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS13727.1

Protein sequence database of the Protein Information Resource

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PIRi
S05377 CGHU1A

NCBI Reference Sequences

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RefSeqi
NP_001839.2, NM_001848.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.474053

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000361866; ENSP00000355180; ENSG00000142156

Database of genes from NCBI RefSeq genomes

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GeneIDi
1291

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1291

UCSC genome browser

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UCSCi
uc002zhu.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 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

Comparative Toxicogenomics Database

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CTDi
1291
DisGeNETi1291
EuPathDBiHostDB:ENSG00000142156.14

GeneCards: human genes, protein and diseases

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GeneCardsi
COL6A1
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410ZQTS LUCA
GeneTreeiENSGT00940000162889
HOVERGENiHBG095954
InParanoidiP12109
KOiK06238
OMAiGDPGEDN
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
COL6A1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Collagen,_type_VI,_alpha_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1291
PMAP-CutDBiP12109

Protein Ontology

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PROi
PR:P12109

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCO6A1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P12109
Secondary accession number(s): O00117
, O00118, Q14040, Q14041, Q16258, Q7Z645, Q9BSA8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: February 6, 2007
Last modified: December 5, 2018
This is version 199 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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