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Entry version 222 (05 Jun 2019)
Sequence version 5 (02 Nov 2010)
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Protein

Collagen alpha-3(VI) chain

Gene

COL6A3

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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei3122 – 3123Reactive bond2

<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

<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

Molecular functionProtease inhibitor, Serine protease inhibitor
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

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SIGNORi
P12111

Protein family/group databases

MEROPS protease database

More...
MEROPSi
I02.968

<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-3(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:COL6A3
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2213 COL6A3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
120250 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P12111

<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 & Seán O’Donoghue; 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.
Related information in OMIM
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_058245677R → H in BTHLM1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs35227432EnsemblClinVar.1
Natural variantiVAR_0582481014K → E in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs114284669EnsemblClinVar.1
Natural variantiVAR_0582501386E → K in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs146092501EnsemblClinVar.1
Natural variantiVAR_0582521467N → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs138049094EnsemblClinVar.1
Natural variantiVAR_0019101679G → E in BTHLM1. 2 PublicationsCorresponds to variant dbSNP:rs121434553EnsemblClinVar.1
Natural variantiVAR_0582571726L → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121434555EnsemblClinVar.1
Natural variantiVAR_0582581985V → M in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs200478135EnsemblClinVar.1
Natural variantiVAR_0582592047G → D in BTHLM1. 1 Publication1
Natural variantiVAR_0582602056G → R in BTHLM1. 1 Publication1
Natural variantiVAR_0582612080G → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs794727188EnsemblClinVar.1
Natural variantiVAR_0582642941A → V in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs11903206EnsemblClinVar.1
Ullrich congenital muscular dystrophy 1 (UCMD1)1 Publication
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0582491064R → Q in UCMD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs112638391EnsemblClinVar.1
Natural variantiVAR_0582511395R → Q in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs80272723EnsemblClinVar.1
Natural variantiVAR_0582551674D → N in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs778940391Ensembl.1
Dystonia 27 (DYT27)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0738362501R → H in DYT27. 1 PublicationCorresponds to variant dbSNP:rs541928674EnsemblClinVar.1
Natural variantiVAR_0738372554A → T in DYT27. 1 PublicationCorresponds to variant dbSNP:rs786205870EnsemblClinVar.1
Natural variantiVAR_0738383043R → H in DYT27. 1 PublicationCorresponds to variant dbSNP:rs552651651EnsemblClinVar.1
Natural variantiVAR_0738393082P → R in DYT27. 1 PublicationCorresponds to variant dbSNP:rs182976977EnsemblClinVar.1

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystonia, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNET

More...
DisGeNETi
1293

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

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GeneReviewsi
COL6A3

MalaCards human disease database

More...
MalaCardsi
COL6A3
MIMi158810 phenotype
254090 phenotype
616411 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000163359

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

More...
Orphaneti
610 Bethlem myopathy
75840 Congenital muscular dystrophy, Ullrich type
464440 Primary dystonia, DYT27 type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26729

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2364188

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL6A3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
311033499

<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 – 25Sequence analysisAdd BLAST25
<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_000000584726 – 3177Collagen alpha-3(VI) chainAdd BLAST3152

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>Glycosylationi108N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi116N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi202N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi251N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei433PhosphothreonineCombined sources1
Modified residuei1225PhosphoserineCombined sources1
Glycosylationi2079N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi2087InterchainPROSITE-ProRule annotation
Modified residuei21004-hydroxyproline1 Publication1
Modified residuei21035-hydroxylysine; alternate1 Publication1
Glycosylationi2103O-linked (Gal...) hydroxylysine; alternate1
Modified residuei22064-hydroxyproline1 Publication1
Modified residuei22095-hydroxylysine; alternate1 Publication1
Glycosylationi2209O-linked (Gal...) hydroxylysine; alternate1
Modified residuei22125-hydroxylysine; alternate1 Publication1
Glycosylationi2212O-linked (Gal...) hydroxylysine; alternate1
Modified residuei22394-hydroxyproline1 Publication1
Modified residuei23164-hydroxyproline1 Publication1
Modified residuei23194-hydroxyproline1 Publication1
Modified residuei23225-hydroxylysine; alternate1 Publication1
Glycosylationi2322O-linked (Gal...) hydroxylysine; alternate1
Glycosylationi2331N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei23375-hydroxylysine; alternate1 Publication1
Glycosylationi2337O-linked (Gal...) hydroxylysine; alternate1
Glycosylationi2558N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2677N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi2861N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3037N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3112 ↔ 3162PROSITE-ProRule annotation
Disulfide bondi3121 ↔ 3145PROSITE-ProRule annotation
Disulfide bondi3137 ↔ 3158PROSITE-ProRule annotation

<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.1 Publication
The N-terminus is blocked.

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P12111

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P12111

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P12111

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

More...
PaxDbi
P12111

PeptideAtlas

More...
PeptideAtlasi
P12111

PRoteomics IDEntifications database

More...
PRIDEi
P12111

ProteomicsDB human proteome resource

More...
ProteomicsDBi
52833
52834 [P12111-2]
52835 [P12111-3]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
P12111

GlyConnect protein glycosylation platform

More...
GlyConnecti
1139

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P12111

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

More...
PhosphoSitePlusi
P12111

<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

More...
Bgeei
ENSG00000163359 Expressed in 215 organ(s), highest expression level in uterine cervix

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P12111 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P12111 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA010080

<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).

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107690, 2 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1736 Collagen type VI trimer

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P12111

Protein interaction database and analysis system

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IntActi
P12111, 8 interactors

Molecular INTeraction database

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MINTi
P12111

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000295550

<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

Secondary structure

13177
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
P12111

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P12111

<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>Domaini39 – 213VWFA 1PROSITE-ProRule annotationAdd BLAST175
Domaini242 – 419VWFA 2PROSITE-ProRule annotationAdd BLAST178
Domaini445 – 620VWFA 3PROSITE-ProRule annotationAdd BLAST176
Domaini639 – 816VWFA 4PROSITE-ProRule annotationAdd BLAST178
Domaini837 – 1009VWFA 5PROSITE-ProRule annotationAdd BLAST173
Domaini1029 – 1205VWFA 6PROSITE-ProRule annotationAdd BLAST177
Domaini1233 – 1404VWFA 7PROSITE-ProRule annotationAdd BLAST172
Domaini1436 – 1609VWFA 8PROSITE-ProRule annotationAdd BLAST174
Domaini1639 – 1812VWFA 9PROSITE-ProRule annotationAdd BLAST174
Domaini1838 – 2024VWFA 10PROSITE-ProRule annotationAdd BLAST187
Domaini2038 – 2097Collagen-like 1Add BLAST60
Domaini2104 – 2163Collagen-like 2Add BLAST60
Domaini2174 – 2233Collagen-like 3Add BLAST60
Domaini2249 – 2300Collagen-like 4Add BLAST52
Domaini2314 – 2373Collagen-like 5Add BLAST60
Domaini2402 – 2581VWFA 11PROSITE-ProRule annotationAdd BLAST180
Domaini2619 – 2815VWFA 12PROSITE-ProRule annotationAdd BLAST197
Domaini2991 – 3085Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST95
Domaini3112 – 3162BPTI/Kunitz inhibitorPROSITE-ProRule annotationAdd BLAST51

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>Regioni26 – 2038Nonhelical regionAdd BLAST2013
Regioni2039 – 2375Triple-helical regionAdd BLAST337
Regioni2376 – 3177Nonhelical regionAdd BLAST802

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>Motifi2040 – 2042Cell attachment site3
Motifi2136 – 2138Cell attachment site3
Motifi2148 – 2150Cell attachment site3
Motifi2154 – 2156Cell attachment site3
Motifi2370 – 2372Cell attachment site3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2863 – 2898Thr-richAdd BLAST36
Compositional biasi2908 – 2983Ala-richAdd BLAST76

<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

More...
eggNOGi
KOG3544 Eukaryota
ENOG41103QR LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156462

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000168250

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P12111

KEGG Orthology (KO)

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KOi
K06238

Identification of Orthologs from Complete Genome Data

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OMAi
EFYFNSY

Database of Orthologous Groups

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OrthoDBi
1049829at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P12111

TreeFam database of animal gene trees

More...
TreeFami
TF337483

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00063 FN3, 1 hit
cd00109 KU, 1 hit
cd01481 vWA_collagen_alpha3-VI-like, 4 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 1 hit
3.40.50.410, 12 hits
4.10.410.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008160 Collagen
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR002223 Kunitz_BPTI
IPR036880 Kunitz_BPTI_sf
IPR020901 Prtase_inh_Kunz-CS
IPR041900 vWA_collagen_alpha3-VI-like
IPR002035 VWF_A
IPR036465 vWFA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 1 hit
PF00014 Kunitz_BPTI, 1 hit
PF00092 VWA, 11 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00759 BASICPTASE

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00131 KU, 1 hit
SM00327 VWA, 12 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49265 SSF49265, 1 hit
SSF53300 SSF53300, 12 hits
SSF57362 SSF57362, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00280 BPTI_KUNITZ_1, 1 hit
PS50279 BPTI_KUNITZ_2, 1 hit
PS50853 FN3, 1 hit
PS50234 VWFA, 12 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)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 describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P12111-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI
60 70 80 90 100
GEEHFQLVRE FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ
110 120 130 140 150
EVLSHISNMS YIGGTNQTGK GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT
160 170 180 190 200
DGHSKDGLAL PSAELKSADV NVFAIGVEDA DEGALKEIAS EPLNMHMFNL
210 220 230 240 250
ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITAQDS ADIIFLIDGS
260 270 280 290 300
NNTGSVNFAV ILDFLVNLLE KLPIGTQQIR VGVVQFSDEP RTMFSLDTYS
310 320 330 340 350
TKAQVLGAVK ALGFAGGELA NIGLALDFVV ENHFTRAGGS RVEEGVPQVL
360 370 380 390 400
VLISAGPSSD EIRYGVVALK QASVFSFGLG AQAASRAELQ HIATDDNLVF
410 420 430 440 450
TVPEFRSFGD LQEKLLPYIV GVAQRHIVLK PPTIVTQVIE VNKRDIVFLV
460 470 480 490 500
DGSSALGLAN FNAIRDFIAK VIQRLEIGQD LIQVAVAQYA DTVRPEFYFN
510 520 530 540 550
THPTKREVIT AVRKMKPLDG SALYTGSALD FVRNNLFTSS AGYRAAEGIP
560 570 580 590 600
KLLVLITGGK SLDEISQPAQ ELKRSSIMAF AIGNKGADQA ELEEIAFDSS
610 620 630 640 650
LVFIPAEFRA APLQGMLPGL LAPLRTLSGT PEVHSNKRDI IFLLDGSANV
660 670 680 690 700
GKTNFPYVRD FVMNLVNSLD IGNDNIRVGL VQFSDTPVTE FSLNTYQTKS
710 720 730 740 750
DILGHLRQLQ LQGGSGLNTG SALSYVYANH FTEAGGSRIR EHVPQLLLLL
760 770 780 790 800
TAGQSEDSYL QAANALTRAG ILTFCVGASQ ANKAELEQIA FNPSLVYLMD
810 820 830 840 850
DFSSLPALPQ QLIQPLTTYV SGGVEEVPLA QPESKRDILF LFDGSANLVG
860 870 880 890 900
QFPVVRDFLY KIIDELNVKP EGTRIAVAQY SDDVKVESRF DEHQSKPEIL
910 920 930 940 950
NLVKRMKIKT GKALNLGYAL DYAQRYIFVK SAGSRIEDGV LQFLVLLVAG
960 970 980 990 1000
RSSDRVDGPA SNLKQSGVVP FIFQAKNADP AELEQIVLSP AFILAAESLP
1010 1020 1030 1040 1050
KIGDLHPQIV NLLKSVHNGA PAPVSGEKDV VFLLDGSEGV RSGFPLLKEF
1060 1070 1080 1090 1100
VQRVVESLDV GQDRVRVAVV QYSDRTRPEF YLNSYMNKQD VVNAVRQLTL
1110 1120 1130 1140 1150
LGGPTPNTGA ALEFVLRNIL VSSAGSRITE GVPQLLIVLT ADRSGDDVRN
1160 1170 1180 1190 1200
PSVVVKRGGA VPIGIGIGNA DITEMQTISF IPDFAVAIPT FRQLGTVQQV
1210 1220 1230 1240 1250
ISERVTQLTR EELSRLQPVL QPLPSPGVGG KRDVVFLIDG SQSAGPEFQY
1260 1270 1280 1290 1300
VRTLIERLVD YLDVGFDTTR VAVIQFSDDP KVEFLLNAHS SKDEVQNAVQ
1310 1320 1330 1340 1350
RLRPKGGRQI NVGNALEYVS RNIFKRPLGS RIEEGVPQFL VLISSGKSDD
1360 1370 1380 1390 1400
EVDDPAVELK QFGVAPFTIA RNADQEELVK ISLSPEYVFS VSTFRELPSL
1410 1420 1430 1440 1450
EQKLLTPITT LTSEQIQKLL ASTRYPPPAV ESDAADIVFL IDSSEGVRPD
1460 1470 1480 1490 1500
GFAHIRDFVS RIVRRLNIGP SKVRVGVVQF SNDVFPEFYL KTYRSQAPVL
1510 1520 1530 1540 1550
DAIRRLRLRG GSPLNTGKAL EFVARNLFVK SAGSRIEDGV PQHLVLVLGG
1560 1570 1580 1590 1600
KSQDDVSRFA QVIRSSGIVS LGVGDRNIDR TELQTITNDP RLVFTVREFR
1610 1620 1630 1640 1650
ELPNIEERIM NSFGPSAATP APPGVDTPPP SRPEKKKADI VFLLDGSINF
1660 1670 1680 1690 1700
RRDSFQEVLR FVSEIVDTVY EDGDSIQVGL VQYNSDPTDE FFLKDFSTKR
1710 1720 1730 1740 1750
QIIDAINKVV YKGGRHANTK VGLEHLRVNH FVPEAGSRLD QRVPQIAFVI
1760 1770 1780 1790 1800
TGGKSVEDAQ DVSLALTQRG VKVFAVGVRN IDSEEVGKIA SNSATAFRVG
1810 1820 1830 1840 1850
NVQELSELSE QVLETLHDAM HETLCPGVTD AAKACNLDVI LGFDGSRDQN
1860 1870 1880 1890 1900
VFVAQKGFES KVDAILNRIS QMHRVSCSGG RSPTVRVSVV ANTPSGPVEA
1910 1920 1930 1940 1950
FDFDEYQPEM LEKFRNMRSQ HPYVLTEDTL KVYLNKFRQS SPDSVKVVIH
1960 1970 1980 1990 2000
FTDGADGDLA DLHRASENLR QEGVRALILV GLERVVNLER LMHLEFGRGF
2010 2020 2030 2040 2050
MYDRPLRLNL LDLDYELAEQ LDNIAEKACC GVPCKCSGQR GDRGPIGSIG
2060 2070 2080 2090 2100
PKGIPGEDGY RGYPGDEGGP GERGPPGVNG TQGFQGCPGQ RGVKGSRGFP
2110 2120 2130 2140 2150
GEKGEVGEIG LDGLDGEDGD KGLPGSSGEK GNPGRRGDKG PRGEKGERGD
2160 2170 2180 2190 2200
VGIRGDPGNP GQDSQERGPK GETGDLGPMG VPGRDGVPGG PGETGKNGGF
2210 2220 2230 2240 2250
GRRGPPGAKG NKGGPGQPGF EGEQGTRGAQ GPAGPAGPPG LIGEQGISGP
2260 2270 2280 2290 2300
RGSGGAAGAP GERGRTGPLG RKGEPGEPGP KGGIGNRGPR GETGDDGRDG
2310 2320 2330 2340 2350
VGSEGRRGKK GERGFPGYPG PKGNPGEPGL NGTTGPKGIR GRRGNSGPPG
2360 2370 2380 2390 2400
IVGQKGDPGY PGPAGPKGNR GDSIDQCALI QSIKDKCPCC YGPLECPVFP
2410 2420 2430 2440 2450
TELAFALDTS EGVNQDTFGR MRDVVLSIVN DLTIAESNCP RGARVAVVTY
2460 2470 2480 2490 2500
NNEVTTEIRF ADSKRKSVLL DKIKNLQVAL TSKQQSLETA MSFVARNTFK
2510 2520 2530 2540 2550
RVRNGFLMRK VAVFFSNTPT RASPQLREAV LKLSDAGITP LFLTRQEDRQ
2560 2570 2580 2590 2600
LINALQINNT AVGHALVLPA GRDLTDFLEN VLTCHVCLDI CNIDPSCGFG
2610 2620 2630 2640 2650
SWRPSFRDRR AAGSDVDIDM AFILDSAETT TLFQFNEMKK YIAYLVRQLD
2660 2670 2680 2690 2700
MSPDPKASQH FARVAVVQHA PSESVDNASM PPVKVEFSLT DYGSKEKLVD
2710 2720 2730 2740 2750
FLSRGMTQLQ GTRALGSAIE YTIENVFESA PNPRDLKIVV LMLTGEVPEQ
2760 2770 2780 2790 2800
QLEEAQRVIL QAKCKGYFFV VLGIGRKVNI KEVYTFASEP NDVFFKLVDK
2810 2820 2830 2840 2850
STELNEEPLM RFGRLLPSFV SSENAFYLSP DIRKQCDWFQ GDQPTKNLVK
2860 2870 2880 2890 2900
FGHKQVNVPN NVTSSPTSNP VTTTKPVTTT KPVTTTTKPV TTTTKPVTII
2910 2920 2930 2940 2950
NQPSVKPAAA KPAPAKPVAA KPVATKMATV RPPVAVKPAT AAKPVAAKPA
2960 2970 2980 2990 3000
AVRPPAAAAA KPVATKPEVP RPQAAKPAAT KPATTKPMVK MSREVQVFEI
3010 3020 3030 3040 3050
TENSAKLHWE RAEPPGPYFY DLTVTSAHDQ SLVLKQNLTV TDRVIGGLLA
3060 3070 3080 3090 3100
GQTYHVAVVC YLRSQVRATY HGSFSTKKSQ PPPPQPARSA SSSTINLMVS
3110 3120 3130 3140 3150
TEPLALTETD ICKLPKDEGT CRDFILKWYY DPNTKSCARF WYGGCGGNEN
3160 3170
KFGSQKECEK VCAPVLAKPG VISVMGT
Length:3,177
Mass (Da):343,669
Last modified:November 2, 2010 - v5
<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:i56D54CAC4FBB30AF
GO
Isoform 2 (identifier: P12111-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-236: Missing.

Show »
Length:2,971
Mass (Da):321,354
Checksum:iBA575D6B63627175
GO
Isoform 3 (identifier: P12111-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-236: Missing.
     237-437: Missing.
     1429-1443: AVESDAADIVFLIDS → GEMGASEVLLGAFSI
     1444-3177: Missing.

Note: No experimental confirmation available.
Show »
Length:1,036
Mass (Da):113,224
Checksum:i9614E1488D7CEE0B
GO
Isoform 4 (identifier: P12111-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-437: Missing.
     633-832: Missing.

Show »
Length:2,570
Mass (Da):278,203
Checksum:i952E61BE4F03322C
GO
Isoform 5 (identifier: P12111-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-236: Missing.
     1429-1443: AVESDAADIVFLIDS → GEMGASEVLLGAFSI
     1444-3177: Missing.

Show »
Length:1,237
Mass (Da):134,707
Checksum:i8B77D527A7B34B6D
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 are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ENL6E7ENL6_HUMAN
Collagen alpha-3(VI) chain
COL6A3
2,569Annotation 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>
C9JNG9C9JNG9_HUMAN
Collagen alpha-3(VI) chain
COL6A3
708Annotation 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>
I3L392I3L392_HUMAN
Collagen alpha-3(VI) chain
COL6A3
173Annotation 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 conflicti127 – 128QS → AK in AAB24261 (PubMed:1339440).Curated2
Sequence conflicti137R → L in AAB24261 (PubMed:1339440).Curated1
Sequence conflicti381A → V in BAG65607 (PubMed:14702039).Curated1
Sequence conflicti608F → S in BAG65607 (PubMed:14702039).Curated1
Sequence conflicti885K → E in AAI44596 (PubMed:15489334).Curated1
Sequence conflicti885K → E in AAI50626 (PubMed:15489334).Curated1
Sequence conflicti1282V → A in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti1353 – 1354DD → VV in CAA36267 (PubMed:1689238).Curated2
Sequence conflicti2157P → R in CAA29557 (PubMed:3665927).Curated1
Sequence conflicti2257A → R in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2257A → R in M20778 (PubMed:3198591).Curated1
Sequence conflicti2287R → P in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2287R → P in M20778 (PubMed:3198591).Curated1
Sequence conflicti2357D → R in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2357D → R in M20778 (PubMed:3198591).Curated1
Sequence conflicti2367K → R in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2367K → R in M20778 (PubMed:3198591).Curated1
Sequence conflicti2441R → T in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2956Missing in CAA36267 (PubMed:1689238).Curated1
Sequence conflicti2992S → L in CAA36267 (PubMed:1689238).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058242411L → V1 PublicationCorresponds to variant dbSNP:rs113716915EnsemblClinVar.1
Natural variantiVAR_058243491D → H1 PublicationCorresponds to variant dbSNP:rs112010940EnsemblClinVar.1
Natural variantiVAR_058244492T → S1 PublicationCorresponds to variant dbSNP:rs113897824EnsemblClinVar.1
Natural variantiVAR_047279538T → M. Corresponds to variant dbSNP:rs34741387EnsemblClinVar.1
Natural variantiVAR_047280659R → H. Corresponds to variant dbSNP:rs36092870EnsemblClinVar.1
Natural variantiVAR_058245677R → H in BTHLM1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs35227432EnsemblClinVar.1
Natural variantiVAR_058246807A → T1 PublicationCorresponds to variant dbSNP:rs113155945EnsemblClinVar.1
Natural variantiVAR_058247830A → S1 PublicationCorresponds to variant dbSNP:rs77181645EnsemblClinVar.1
Natural variantiVAR_047281886V → E. Corresponds to variant dbSNP:rs9630964Ensembl.1
Natural variantiVAR_0582481014K → E in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs114284669EnsemblClinVar.1
Natural variantiVAR_0582491064R → Q in UCMD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs112638391EnsemblClinVar.1
Natural variantiVAR_0472821088K → Q1 PublicationCorresponds to variant dbSNP:rs11896521EnsemblClinVar.1
Natural variantiVAR_0582501386E → K in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs146092501EnsemblClinVar.1
Natural variantiVAR_0582511395R → Q in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs80272723EnsemblClinVar.1
Natural variantiVAR_0582521467N → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs138049094EnsemblClinVar.1
Natural variantiVAR_0582531576R → Q2 PublicationsCorresponds to variant dbSNP:rs61729839EnsemblClinVar.1
Natural variantiVAR_0582541632R → Q1 PublicationCorresponds to variant dbSNP:rs111231885EnsemblClinVar.1
Natural variantiVAR_0582551674D → N in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs778940391Ensembl.1
Natural variantiVAR_0019101679G → E in BTHLM1. 2 PublicationsCorresponds to variant dbSNP:rs121434553EnsemblClinVar.1
Natural variantiVAR_0582561687P → S1 PublicationCorresponds to variant dbSNP:rs35273032EnsemblClinVar.1
Natural variantiVAR_0582571726L → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121434555EnsemblClinVar.1
Natural variantiVAR_0582581985V → M in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs200478135EnsemblClinVar.1
Natural variantiVAR_0582592047G → D in BTHLM1. 1 Publication1
Natural variantiVAR_0582602056G → R in BTHLM1. 1 Publication1
Natural variantiVAR_0582612080G → D in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs794727188EnsemblClinVar.1
Natural variantiVAR_0472832218P → L1 PublicationCorresponds to variant dbSNP:rs36117715EnsemblClinVar.1
Natural variantiVAR_0582622431D → V2 Publications1
Natural variantiVAR_0582632453E → K1 PublicationCorresponds to variant dbSNP:rs886044364EnsemblClinVar.1
Natural variantiVAR_0738362501R → H in DYT27. 1 PublicationCorresponds to variant dbSNP:rs541928674EnsemblClinVar.1
Natural variantiVAR_0738372554A → T in DYT27. 1 PublicationCorresponds to variant dbSNP:rs786205870EnsemblClinVar.1
Natural variantiVAR_0472842805N → T. Corresponds to variant dbSNP:rs35848091Ensembl.1
Natural variantiVAR_0019112831D → H3 PublicationsCorresponds to variant dbSNP:rs36104025EnsemblClinVar.1
Natural variantiVAR_0472852927M → T1 PublicationCorresponds to variant dbSNP:rs6728818EnsemblClinVar.1
Natural variantiVAR_0582642941A → V in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs11903206EnsemblClinVar.1
Natural variantiVAR_0472862988M → V2 PublicationsCorresponds to variant dbSNP:rs11690358EnsemblClinVar.1
Natural variantiVAR_0472873012A → P1 PublicationCorresponds to variant dbSNP:rs2270669EnsemblClinVar.1
Natural variantiVAR_0738383043R → H in DYT27. 1 PublicationCorresponds to variant dbSNP:rs552651651EnsemblClinVar.1
Natural variantiVAR_0472883069T → I1 PublicationCorresponds to variant dbSNP:rs1131296EnsemblClinVar.1
Natural variantiVAR_0738393082P → R in DYT27. 1 PublicationCorresponds to variant dbSNP:rs182976977EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04571831 – 437Missing in isoform 4. 1 PublicationAdd BLAST407
Alternative sequenceiVSP_00117231 – 236Missing in isoform 2, isoform 3 and isoform 5. 1 PublicationAdd BLAST206
Alternative sequenceiVSP_043434237 – 437Missing in isoform 3. 1 PublicationAdd BLAST201
Alternative sequenceiVSP_045719633 – 832Missing in isoform 4. 1 PublicationAdd BLAST200
Alternative sequenceiVSP_0434351429 – 1443AVESD…FLIDS → GEMGASEVLLGAFSI in isoform 3 and isoform 5. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_0434361444 – 3177Missing in isoform 3 and isoform 5. 1 PublicationAdd BLAST1734

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X52022 mRNA Translation: CAA36267.1
AK092021 mRNA Translation: BAG52467.1
AK304870 mRNA Translation: BAG65607.1
AC112715 Genomic DNA Translation: AAY14906.1
AC112721 Genomic DNA Translation: AAY24135.1
BC144595 mRNA Translation: AAI44596.1
BC150625 mRNA Translation: AAI50626.1
S49432 mRNA Translation: AAB24261.1
M20778 mRNA No translation available.
X06196 mRNA Translation: CAA29557.1
M27449 mRNA Translation: AAA52057.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33409.1 [P12111-2]
CCDS33410.2 [P12111-4]
CCDS33411.2 [P12111-5]
CCDS33412.1 [P12111-1]
CCDS54439.1 [P12111-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
A59140 CGHU3A

NCBI Reference Sequences

More...
RefSeqi
NP_004360.2, NM_004369.3 [P12111-1]
NP_476505.3, NM_057164.4 [P12111-3]
NP_476506.3, NM_057165.4 [P12111-5]
NP_476507.3, NM_057166.4 [P12111-4]
NP_476508.2, NM_057167.3 [P12111-2]
XP_016858792.1, XM_017003303.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000295550; ENSP00000295550; ENSG00000163359 [P12111-1]
ENST00000353578; ENSP00000315873; ENSG00000163359 [P12111-2]
ENST00000392003; ENSP00000375860; ENSG00000163359 [P12111-3]
ENST00000392004; ENSP00000375861; ENSG00000163359 [P12111-5]
ENST00000409809; ENSP00000386844; ENSG00000163359 [P12111-2]
ENST00000472056; ENSP00000418285; ENSG00000163359 [P12111-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1293

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1293

UCSC genome browser

More...
UCSCi
uc002vwl.3 human [P12111-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
X52022 mRNA Translation: CAA36267.1
AK092021 mRNA Translation: BAG52467.1
AK304870 mRNA Translation: BAG65607.1
AC112715 Genomic DNA Translation: AAY14906.1
AC112721 Genomic DNA Translation: AAY24135.1
BC144595 mRNA Translation: AAI44596.1
BC150625 mRNA Translation: AAI50626.1
S49432 mRNA Translation: AAB24261.1
M20778 mRNA No translation available.
X06196 mRNA Translation: CAA29557.1
M27449 mRNA Translation: AAA52057.1
CCDSiCCDS33409.1 [P12111-2]
CCDS33410.2 [P12111-4]
CCDS33411.2 [P12111-5]
CCDS33412.1 [P12111-1]
CCDS54439.1 [P12111-3]
PIRiA59140 CGHU3A
RefSeqiNP_004360.2, NM_004369.3 [P12111-1]
NP_476505.3, NM_057164.4 [P12111-3]
NP_476506.3, NM_057165.4 [P12111-5]
NP_476507.3, NM_057166.4 [P12111-4]
NP_476508.2, NM_057167.3 [P12111-2]
XP_016858792.1, XM_017003303.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1KNTX-ray1.60A3108-3165[»]
1KTHX-ray0.95A3108-3165[»]
1KUNNMR-A3108-3165[»]
2KNTX-ray1.20A3108-3165[»]
SMRiP12111
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107690, 2 interactors
ComplexPortaliCPX-1736 Collagen type VI trimer
CORUMiP12111
IntActiP12111, 8 interactors
MINTiP12111
STRINGi9606.ENSP00000295550

Chemistry databases

ChEMBLiCHEMBL2364188

Protein family/group databases

MEROPSiI02.968

PTM databases

CarbonylDBiP12111
GlyConnecti1139
iPTMnetiP12111
PhosphoSitePlusiP12111

Polymorphism and mutation databases

BioMutaiCOL6A3
DMDMi311033499

Proteomic databases

EPDiP12111
jPOSTiP12111
MaxQBiP12111
PaxDbiP12111
PeptideAtlasiP12111
PRIDEiP12111
ProteomicsDBi52833
52834 [P12111-2]
52835 [P12111-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295550; ENSP00000295550; ENSG00000163359 [P12111-1]
ENST00000353578; ENSP00000315873; ENSG00000163359 [P12111-2]
ENST00000392003; ENSP00000375860; ENSG00000163359 [P12111-3]
ENST00000392004; ENSP00000375861; ENSG00000163359 [P12111-5]
ENST00000409809; ENSP00000386844; ENSG00000163359 [P12111-2]
ENST00000472056; ENSP00000418285; ENSG00000163359 [P12111-4]
GeneIDi1293
KEGGihsa:1293
UCSCiuc002vwl.3 human [P12111-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1293
DisGeNETi1293

GeneCards: human genes, protein and diseases

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GeneCardsi
COL6A3
GeneReviewsiCOL6A3

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0002952
HGNCiHGNC:2213 COL6A3
HPAiHPA010080
MalaCardsiCOL6A3
MIMi120250 gene
158810 phenotype
254090 phenotype
616411 phenotype
neXtProtiNX_P12111
OpenTargetsiENSG00000163359
Orphaneti610 Bethlem myopathy
75840 Congenital muscular dystrophy, Ullrich type
464440 Primary dystonia, DYT27 type
PharmGKBiPA26729

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG41103QR LUCA
GeneTreeiENSGT00940000156462
HOGENOMiHOG000168250
InParanoidiP12111
KOiK06238
OMAiEFYFNSY
OrthoDBi1049829at2759
PhylomeDBiP12111
TreeFamiTF337483

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
SIGNORiP12111

Miscellaneous databases

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

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ChiTaRSi
COL6A3 human
EvolutionaryTraceiP12111

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
COL6A3

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

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GenomeRNAii
1293

Protein Ontology

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PROi
PR:P12111

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163359 Expressed in 215 organ(s), highest expression level in uterine cervix
ExpressionAtlasiP12111 baseline and differential
GenevisibleiP12111 HS

Family and domain databases

CDDicd00063 FN3, 1 hit
cd00109 KU, 1 hit
cd01481 vWA_collagen_alpha3-VI-like, 4 hits
Gene3Di2.60.40.10, 1 hit
3.40.50.410, 12 hits
4.10.410.10, 1 hit
InterProiView protein in InterPro
IPR008160 Collagen
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR002223 Kunitz_BPTI
IPR036880 Kunitz_BPTI_sf
IPR020901 Prtase_inh_Kunz-CS
IPR041900 vWA_collagen_alpha3-VI-like
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF01391 Collagen, 1 hit
PF00014 Kunitz_BPTI, 1 hit
PF00092 VWA, 11 hits
PRINTSiPR00759 BASICPTASE
SMARTiView protein in SMART
SM00131 KU, 1 hit
SM00327 VWA, 12 hits
SUPFAMiSSF49265 SSF49265, 1 hit
SSF53300 SSF53300, 12 hits
SSF57362 SSF57362, 1 hit
PROSITEiView protein in PROSITE
PS00280 BPTI_KUNITZ_1, 1 hit
PS50279 BPTI_KUNITZ_2, 1 hit
PS50853 FN3, 1 hit
PS50234 VWFA, 12 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiCO6A3_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: P12111
Secondary accession number(s): A8MT30
, B4E3U5, B7ZMJ7, E9PFQ6, E9PGQ9, Q16501, Q53QF4, Q53QF6
<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: November 2, 2010
Last modified: June 5, 2019
This is version 222 of the entry and version 5 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: 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
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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