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UniProtKB - P02461 (CO3A1_HUMAN)

Entry version 226 (02 Dec 2020)
Sequence version 4 (23 Jan 2007)
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Protein

Collagen alpha-1(III) chain

Gene

COL3A1

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 type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi1280Calcium1
Metal bindingi1282Calcium1
Metal bindingi1283Calcium; via carbonyl oxygen1
Metal bindingi1285Calcium; via carbonyl oxygen1
Metal bindingi1288Calcium1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P02461

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1442490, Collagen degradation
R-HSA-1474244, Extracellular matrix organization
R-HSA-1650814, Collagen biosynthesis and modifying enzymes
R-HSA-186797, Signaling by PDGF
R-HSA-198933, Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-2022090, Assembly of collagen fibrils and other multimeric structures
R-HSA-216083, Integrin cell surface interactions
R-HSA-3000170, Syndecan interactions
R-HSA-3000171, Non-integrin membrane-ECM interactions
R-HSA-3000178, ECM proteoglycans
R-HSA-3000480, Scavenging by Class A Receptors
R-HSA-419037, NCAM1 interactions
R-HSA-8874081, MET activates PTK2 signaling
R-HSA-8948216, Collagen chain trimerization

SIGNOR Signaling Network Open Resource

More...SIGNORi		P02461

<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%5Fand%5Ftaxonomy%5Fsection">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(III) chain
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:COL3A1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000168542.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:2201, COL3A1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		120180, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P02461

<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

Ehlers-Danlos syndrome, vascular type (EDSVASC)30 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas.
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_001768183G → C in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs121912926EnsemblClinVar.1
Natural variantiVAR_011095183G → D in EDSVASC. Corresponds to variant dbSNP:rs587779420EnsemblClinVar.1
Natural variantiVAR_011096183G → S in EDSVASC. Corresponds to variant dbSNP:rs121912926EnsemblClinVar.1
Natural variantiVAR_011097192G → V in EDSVASC. Corresponds to variant dbSNP:rs587779710EnsemblClinVar.1
Natural variantiVAR_001769201G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779436EnsemblClinVar.1
Natural variantiVAR_011098204G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779626EnsemblClinVar.1
Natural variantiVAR_011099204G → S in EDSVASC. Corresponds to variant dbSNP:rs587779711EnsemblClinVar.1
Natural variantiVAR_011100210G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011101219G → C in EDSVASC. Corresponds to variant dbSNP:rs587779624EnsemblClinVar.1
Natural variantiVAR_011102225G → V in EDSVASC. Corresponds to variant dbSNP:rs587779533EnsemblClinVar.1
Natural variantiVAR_001770228G → E in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779555EnsemblClinVar.1
Natural variantiVAR_011103240G → R in EDSVASC. Corresponds to variant dbSNP:rs587779468EnsemblClinVar.1
Natural variantiVAR_011104243G → V in EDSVASC. Corresponds to variant dbSNP:rs587779629EnsemblClinVar.1
Natural variantiVAR_011105249G → D in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar.1
Natural variantiVAR_011106249G → V in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar.1
Natural variantiVAR_011107252G → D in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar.1
Natural variantiVAR_011108252G → R in EDSVASC. Corresponds to variant dbSNP:rs587779705EnsemblClinVar.1
Natural variantiVAR_011109252G → V in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar.1
Natural variantiVAR_011110255G → V in EDSVASC. Corresponds to variant dbSNP:rs587779605EnsemblClinVar.1
Natural variantiVAR_011111264G → R in EDSVASC. 1 Publication1
Natural variantiVAR_011112267G → V in EDSVASC. Corresponds to variant dbSNP:rs587779427EnsemblClinVar.1
Natural variantiVAR_037007297G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs1553507557EnsemblClinVar.1
Natural variantiVAR_001771303G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912919EnsemblClinVar.1
Natural variantiVAR_011113321G → V in EDSVASC. Corresponds to variant dbSNP:rs587779588EnsemblClinVar.1
Natural variantiVAR_011114327G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011115345G → R in EDSVASC. Corresponds to variant dbSNP:rs587779419EnsemblClinVar.1
Natural variantiVAR_011116417G → R in EDSVASC. Corresponds to variant dbSNP:rs587779637EnsemblClinVar.1
Natural variantiVAR_011117444G → R in EDSVASC. Corresponds to variant dbSNP:rs587779489EnsemblClinVar.1
Natural variantiVAR_011118489G → E in EDSVASC. Corresponds to variant dbSNP:rs587779476EnsemblClinVar.1
Natural variantiVAR_011119501G → R in EDSVASC. Corresponds to variant dbSNP:rs587779523EnsemblClinVar.1
Natural variantiVAR_011120519G → V in EDSVASC. 1
Natural variantiVAR_001772540G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779584EnsemblClinVar.1
Natural variantiVAR_011121549G → E in EDSVASC. Corresponds to variant dbSNP:rs587779679EnsemblClinVar.1
Natural variantiVAR_011122552G → E in EDSVASC. Corresponds to variant dbSNP:rs121912928EnsemblClinVar.1
Natural variantiVAR_001773567G → E in EDSVASC. 1 Publication1
Natural variantiVAR_001774582G → S in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912923EnsemblClinVar.1
Natural variantiVAR_011123588G → D in EDSVASC. Corresponds to variant dbSNP:rs587779691EnsemblClinVar.1
Natural variantiVAR_011124636G → R in EDSVASC. Corresponds to variant dbSNP:rs587779522EnsemblClinVar.1
Natural variantiVAR_011125657G → E in EDSVASC. Corresponds to variant dbSNP:rs587779699EnsemblClinVar.1
Natural variantiVAR_011126660G → D in EDSVASC. Corresponds to variant dbSNP:rs587779493EnsemblClinVar.1
Natural variantiVAR_001777666G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912921EnsemblClinVar.1
Natural variantiVAR_011128699G → R in EDSVASC. Corresponds to variant dbSNP:rs587779668EnsemblClinVar.1
Natural variantiVAR_001779726G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779638EnsemblClinVar.1
Natural variantiVAR_011129738G → S in EDSVASC. Corresponds to variant dbSNP:rs121912925EnsemblClinVar.1
Natural variantiVAR_011130738G → V in EDSVASC. Corresponds to variant dbSNP:rs587779615EnsemblClinVar.1
Natural variantiVAR_011131744G → V in EDSVASC. Corresponds to variant dbSNP:rs587779697EnsemblClinVar.1
Natural variantiVAR_001780756G → E in EDSVASC. 1 Publication1
Natural variantiVAR_001781762G → C in EDSVASC. 1 Publication1
Natural variantiVAR_001782786G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs113485686EnsemblClinVar.1
Natural variantiVAR_001783804G → S in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912920EnsemblClinVar.1
Natural variantiVAR_001784828G → R in EDSVASC. 1 Publication1
Natural variantiVAR_011132828G → W in EDSVASC. Corresponds to variant dbSNP:rs587779486EnsemblClinVar.1
Natural variantiVAR_037008830 – 838Missing in EDSVASC. 1 Publication9
Natural variantiVAR_011133852G → C in EDSVASC. Corresponds to variant dbSNP:rs587779690EnsemblClinVar.1
Natural variantiVAR_011134879G → V in EDSVASC. Corresponds to variant dbSNP:rs587779645EnsemblClinVar.1
Natural variantiVAR_011135882G → D in EDSVASC. Corresponds to variant dbSNP:rs587779622EnsemblClinVar.1
Natural variantiVAR_011136900G → D in EDSVASC. Corresponds to variant dbSNP:rs587779599EnsemblClinVar.1
Natural variantiVAR_011137903G → E in EDSVASC. Corresponds to variant dbSNP:rs587779505EnsemblClinVar.1
Natural variantiVAR_001785909G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011138909G → V in EDSVASC. Corresponds to variant dbSNP:rs587779483EnsemblClinVar.1
Natural variantiVAR_011139918G → E in EDSVASC. Corresponds to variant dbSNP:rs587779662EnsemblClinVar.1
Natural variantiVAR_011140924G → C in EDSVASC. Corresponds to variant dbSNP:rs587779471EnsemblClinVar.1
Natural variantiVAR_001786936G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779566EnsemblClinVar.1
Natural variantiVAR_001787936G → S in EDSVASC. 1
Natural variantiVAR_001788939G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs112978464Ensembl.1
Natural variantiVAR_011141942G → E in EDSVASC. Corresponds to variant dbSNP:rs587779517EnsemblClinVar.1
Natural variantiVAR_001789957G → S in EDSVASC; severe variant. 1 PublicationCorresponds to variant dbSNP:rs121912913Ensembl.1
Natural variantiVAR_001790960G → V in EDSVASC; severe variant. 1 PublicationCorresponds to variant dbSNP:rs121912922EnsemblClinVar.1
Natural variantiVAR_011142966G → V in EDSVASC. Corresponds to variant dbSNP:rs587779571EnsemblClinVar.1
Natural variantiVAR_011143972G → A in EDSVASC. Corresponds to variant dbSNP:rs587779559EnsemblClinVar.1
Natural variantiVAR_011144984G → T in EDSVASC; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs1559061242EnsemblClinVar.1
Natural variantiVAR_001791996G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779576EnsemblClinVar.1
Natural variantiVAR_011145999G → R in EDSVASC. Corresponds to variant dbSNP:rs587779548EnsemblClinVar.1
Natural variantiVAR_0111461011G → E in EDSVASC. Corresponds to variant dbSNP:rs587779552EnsemblClinVar.1
Natural variantiVAR_0017921014G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912916EnsemblClinVar.1
Natural variantiVAR_0111471032G → V in EDSVASC. Corresponds to variant dbSNP:rs587779428EnsemblClinVar.1
Natural variantiVAR_0111481035G → C in EDSVASC. Corresponds to variant dbSNP:rs587779704EnsemblClinVar.1
Natural variantiVAR_0111491044G → D in EDSVASC. 1 Publication1
Natural variantiVAR_0017931050G → D in EDSVASC; mild variant. 1 PublicationCorresponds to variant dbSNP:rs121912914EnsemblClinVar.1
Natural variantiVAR_0111501050G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912914EnsemblClinVar.1
Natural variantiVAR_0017941071G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779709EnsemblClinVar.1
Natural variantiVAR_0017951077G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912915EnsemblClinVar.1
Natural variantiVAR_0111511089G → D in EDSVASC. Corresponds to variant dbSNP:rs587779672EnsemblClinVar.1
Natural variantiVAR_0111521098G → D in EDSVASC. 1 Publication1
Natural variantiVAR_0111531098G → V in EDSVASC. Corresponds to variant dbSNP:rs587779614EnsemblClinVar.1
Natural variantiVAR_0017961101G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912924EnsemblClinVar.1
Natural variantiVAR_0017971104G → A in EDSVASC. 1 Publication1
Natural variantiVAR_0111541161G → V in EDSVASC. Corresponds to variant dbSNP:rs587779473EnsemblClinVar.1
Natural variantiVAR_0111551164G → E in EDSVASC. Corresponds to variant dbSNP:rs587779431EnsemblClinVar.1
Natural variantiVAR_0111561164G → R in EDSVASC. Corresponds to variant dbSNP:rs587779553EnsemblClinVar.1
Natural variantiVAR_0017991167G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779578EnsemblClinVar.1
Natural variantiVAR_0018001170G → D in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779465EnsemblClinVar.1
Natural variantiVAR_0111571170G → V in EDSVASC. Corresponds to variant dbSNP:rs587779465EnsemblClinVar.1
Natural variantiVAR_0018011173G → E in EDSVASC. 3 PublicationsCorresponds to variant dbSNP:rs121912918EnsemblClinVar.1
Natural variantiVAR_0111581173G → R in EDSVASC; Gottron type acrogeria. 1 PublicationCorresponds to variant dbSNP:rs587779521EnsemblClinVar.1
Natural variantiVAR_0018021176G → V in EDSVASC; severe. 1 Publication1
Natural variantiVAR_0111591179G → R in EDSVASC. Corresponds to variant dbSNP:rs587779574EnsemblClinVar.1
Natural variantiVAR_0018031182G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs111505097EnsemblClinVar.1
Natural variantiVAR_0018041185G → D in EDSVASC; severe variant. 1 PublicationCorresponds to variant dbSNP:rs121912917EnsemblClinVar.1
Natural variantiVAR_0018051185G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912917EnsemblClinVar.1
Natural variantiVAR_0018061188G → E in EDSVASC; severe variant. 2 PublicationsCorresponds to variant dbSNP:rs112456072EnsemblClinVar.1
Natural variantiVAR_0018071188G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779504EnsemblClinVar.1
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08204349P → A in PMGEDSV; does not affect interaction with ADGRG1. 2 PublicationsCorresponds to variant dbSNP:rs1234344050EnsemblClinVar.1
Natural variantiVAR_082044428 – 1466Missing in PMGEDSV. 1 PublicationAdd BLAST1039
Natural variantiVAR_082045596 – 1466Missing in PMGEDSV. 1 PublicationAdd BLAST871
Natural variantiVAR_0820461284G → E in PMGEDSV. 1 PublicationCorresponds to variant dbSNP:rs587779528EnsemblClinVar.1

Keywords - Diseasei

Aortic aneurysm, Disease mutation, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		1281

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

More...GeneReviewsi		COL3A1

MalaCards human disease database

More...MalaCardsi		COL3A1
MIMi130050, phenotype
618343, phenotype

Open Targets

More...OpenTargetsi		ENSG00000168542

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

More...Orphaneti		2500, Acrogeria
86, Familial abdominal aortic aneurysm
231160, Familial cerebral saccular aneurysm
286, Vascular Ehlers-Danlos syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26716

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P02461, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2364188

Drug and drug target database

More...DrugBanki		DB00048, Collagenase clostridium histolyticum

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		COL3A1

Domain mapping of disease mutations (DMDM)

More...DMDMi		124056490

<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 – 23Add BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000000574024 – 153N-terminal propeptideAdd BLAST130
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000005741154 – 1221Collagen alpha-1(III) chainAdd BLAST1068
PropeptideiPRO_00000057421222 – 1466C-terminal propeptideAdd BLAST245

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei1734-hydroxyproline1 Publication1
Modified residuei1794-hydroxyproline1 Publication1
Modified residuei1824-hydroxyproline1 Publication1
Modified residuei1854-hydroxyproline1 Publication1
Modified residuei1914-hydroxyproline1 Publication1
Modified residuei1944-hydroxyproline1 Publication1
Modified residuei1974-hydroxyproline1 Publication1
Modified residuei2034-hydroxyproline1 Publication1
Modified residuei2064-hydroxyproline1 Publication1
Modified residuei2154-hydroxyproline1 Publication1
Modified residuei2184-hydroxyproline1 Publication1
Modified residuei2364-hydroxyproline1 Publication1
Modified residuei2394-hydroxyproline1 Publication1
Modified residuei2454-hydroxyproline1 Publication1
Modified residuei2484-hydroxyproline1 Publication1
Modified residuei2574-hydroxyproline1 Publication1
Modified residuei2604-hydroxyproline1 Publication1
Modified residuei2635-hydroxylysine; alternate1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi263O-linked (Gal...) hydroxylysine; alternate1
Modified residuei2814-hydroxyproline1 Publication1
Modified residuei2845-hydroxylysine1 Publication1
Modified residuei2904-hydroxyproline1 Publication1
Modified residuei2964-hydroxyproline1 Publication1
Modified residuei3054-hydroxyproline1 Publication1
Modified residuei3114-hydroxyproline1 Publication1
Modified residuei3144-hydroxyproline1 Publication1
Modified residuei3324-hydroxyproline1 Publication1
Modified residuei3354-hydroxyproline1 Publication1
Modified residuei3384-hydroxyproline1 Publication1
Modified residuei3444-hydroxyproline1 Publication1
Modified residuei3474-hydroxyproline1 Publication1
Modified residuei3594-hydroxyproline1 Publication1
Modified residuei3654-hydroxyproline1 Publication1
Modified residuei3714-hydroxyproline1 Publication1
Modified residuei3834-hydroxyproline1 Publication1
Modified residuei3864-hydroxyproline1 Publication1
Modified residuei3924-hydroxyproline1 Publication1
Modified residuei4044-hydroxyproline1 Publication1
Modified residuei4074-hydroxyproline1 Publication1
Modified residuei4164-hydroxyproline1 Publication1
Modified residuei4254-hydroxyproline1 Publication1
Modified residuei4344-hydroxyproline1 Publication1
Modified residuei4434-hydroxyproline1 Publication1
Modified residuei4554-hydroxyproline1 Publication1
Modified residuei4584-hydroxyproline1 Publication1
Modified residuei4704-hydroxyproline1 Publication1
Modified residuei4734-hydroxyproline1 Publication1
Modified residuei4794-hydroxyproline1 Publication1
Modified residuei4884-hydroxyproline1 Publication1
Modified residuei5004-hydroxyproline1 Publication1
Modified residuei5124-hydroxyproline1 Publication1
Modified residuei5244-hydroxyproline1 Publication1
Modified residuei5304-hydroxyproline1 Publication1
Modified residuei5334-hydroxyproline1 Publication1
Modified residuei5394-hydroxyproline1 Publication1
Modified residuei5424-hydroxyproline1 Publication1
Modified residuei5454-hydroxyproline1 Publication1
Modified residuei5514-hydroxyproline1 Publication1
Modified residuei5544-hydroxyproline1 Publication1
Modified residuei5634-hydroxyproline1 Publication1
Modified residuei5664-hydroxyproline1 Publication1
Modified residuei5754-hydroxyproline1 Publication1
Modified residuei5814-hydroxyproline1 Publication1
Modified residuei5904-hydroxyproline1 Publication1
Modified residuei5994-hydroxyproline1 Publication1
Modified residuei6024-hydroxyproline1 Publication1
Modified residuei6084-hydroxyproline1 Publication1
Modified residuei6204-hydroxyproline1 Publication1
Modified residuei6354-hydroxyproline1 Publication1
Modified residuei6444-hydroxyproline1 Publication1
Modified residuei6504-hydroxyproline1 Publication1
Modified residuei6564-hydroxyproline1 Publication1
Modified residuei6594-hydroxyproline1 Publication1
Modified residuei6614-hydroxyproline1 Publication1
Modified residuei6684-hydroxyproline1 Publication1
Modified residuei6714-hydroxyproline1 Publication1
Modified residuei6804-hydroxyproline1 Publication1
Modified residuei6864-hydroxyproline1 Publication1
Modified residuei6924-hydroxyproline1 Publication1
Modified residuei7014-hydroxyproline1 Publication1
Modified residuei7034-hydroxyproline1 Publication1
Modified residuei7134-hydroxyproline1 Publication1
Modified residuei7164-hydroxyproline1 Publication1
Modified residuei7224-hydroxyproline1 Publication1
Modified residuei7284-hydroxyproline1 Publication1
Modified residuei7374-hydroxyproline1 Publication1
Modified residuei7464-hydroxyproline1 Publication1
Modified residuei7494-hydroxyproline1 Publication1
Modified residuei7554-hydroxyproline1 Publication1
Modified residuei7704-hydroxyproline1 Publication1
Modified residuei7764-hydroxyproline1 Publication1
Modified residuei7854-hydroxyproline1 Publication1
Modified residuei7884-hydroxyproline1 Publication1
Modified residuei7974-hydroxyproline1 Publication1
Modified residuei8064-hydroxyproline1 Publication1
Modified residuei8124-hydroxyproline1 Publication1
Modified residuei8154-hydroxyproline1 Publication1
Modified residuei8214-hydroxyproline1 Publication1
Modified residuei8304-hydroxyproline1 Publication1
Modified residuei8394-hydroxyproline1 Publication1
Modified residuei8454-hydroxyproline1 Publication1
Modified residuei8544-hydroxyproline1 Publication1
Modified residuei8605-hydroxylysine1 Publication1
Modified residuei8664-hydroxyproline1 Publication1
Modified residuei8694-hydroxyproline1 Publication1
Modified residuei8754-hydroxyproline1 Publication1
Modified residuei8814-hydroxyproline1 Publication1
Modified residuei8844-hydroxyproline1 Publication1
Modified residuei8904-hydroxyproline1 Publication1
Modified residuei8924-hydroxyproline1 Publication1
Modified residuei8994-hydroxyproline1 Publication1
Modified residuei9054-hydroxyproline1 Publication1
Modified residuei9144-hydroxyproline1 Publication1
Modified residuei9174-hydroxyproline1 Publication1
Modified residuei9294-hydroxyproline1 Publication1
Modified residuei9354-hydroxyproline1 Publication1
Modified residuei9414-hydroxyproline1 Publication1
Modified residuei9444-hydroxyproline1 Publication1
Modified residuei9624-hydroxyproline1 Publication1
Modified residuei9654-hydroxyproline1 Publication1
Modified residuei9714-hydroxyproline1 Publication1
Modified residuei9775-hydroxylysine1 Publication1
Modified residuei9834-hydroxyproline1 Publication1
Modified residuei9954-hydroxyproline1 Publication1
Modified residuei10014-hydroxyproline1 Publication1
Modified residuei10104-hydroxyproline1 Publication1
Modified residuei10164-hydroxyproline1 Publication1
Modified residuei10224-hydroxyproline1 Publication1
Modified residuei10284-hydroxyproline1 Publication1
Modified residuei10404-hydroxyproline1 Publication1
Modified residuei10434-hydroxyproline1 Publication1
Modified residuei10464-hydroxyproline1 Publication1
Modified residuei10494-hydroxyproline1 Publication1
Modified residuei10524-hydroxyproline1 Publication1
Modified residuei10764-hydroxyproline1 Publication1
Modified residuei10854-hydroxyproline1 Publication1
Modified residuei11065-hydroxylysine1 Publication1
Modified residuei11124-hydroxyproline1 Publication1
Modified residuei11154-hydroxyproline1 Publication1
Modified residuei11184-hydroxyproline1 Publication1
Modified residuei11214-hydroxyproline1 Publication1
Modified residuei11334-hydroxyproline1 Publication1
Modified residuei11484-hydroxyproline1 Publication1
Modified residuei11574-hydroxyproline1 Publication1
Modified residuei11634-hydroxyproline1 Publication1
Modified residuei11784-hydroxyproline1 Publication1
Modified residuei11814-hydroxyproline1 Publication1
Modified residuei11844-hydroxyproline1 Publication1
Modified residuei11874-hydroxyproline1 Publication1
Modified residuei11904-hydroxyproline1 Publication1
Modified residuei11934-hydroxyproline1 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 bondi1196InterchainPROSITE-ProRule annotation1 Publication
Disulfide bondi1197InterchainPROSITE-ProRule annotation1 Publication
Disulfide bondi1262 ↔ 1294PROSITE-ProRule annotation1 Publication
Disulfide bondi1268Interchain (with C-1285)PROSITE-ProRule annotation1 Publication
Disulfide bondi1285Interchain (with C-1268)PROSITE-ProRule annotation1 Publication
Disulfide bondi1302 ↔ 1464PROSITE-ProRule annotation1 Publication
Disulfide bondi1372 ↔ 1417PROSITE-ProRule annotation1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.2 Publications
O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-1180

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P02461

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P02461

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

More...PaxDbi		P02461

PeptideAtlas

More...PeptideAtlasi		P02461

PRoteomics IDEntifications database

More...PRIDEi		P02461

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51522 [P02461-1]
51523 [P02461-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1127, 6 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P02461, 5 sites, 2 O-linked glycans (3 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P02461

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

More...PhosphoSitePlusi		P02461

<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		ENSG00000168542, Expressed in uterine cervix and 239 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P02461, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P02461, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000168542, Tissue enhanced (cervix, uterine, endometrium)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines.

Interacts with ADGRG1 (PubMed:28258187).

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107678, 14 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1714, Collagen type III trimer

Database of interacting proteins

More...DIPi		DIP-57177N

Protein interaction database and analysis system

More...IntActi		P02461, 29 interactors

Molecular INTeraction database

More...MINTi		P02461

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000304408

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P02461, protein

<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

11466
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

More...SMRi		P02461

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P02461

<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%5Fand%5Fdomains%5Fsection">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>Domaini30 – 89VWFCPROSITE-ProRule annotationAdd BLAST60
Domaini1232 – 1466Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST235

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>Regioni149 – 167Nonhelical region (N-terminal)Add BLAST19
Regioni168 – 1196Triple-helical regionAdd BLAST1029
Regioni1197 – 1205Nonhelical region (C-terminal)9

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function.

<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 fibrillar collagen family.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3544, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161229

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001074_2_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P02461

Identification of Orthologs from Complete Genome Data

More...OMAi		SPQFESY

Database of Orthologous Groups

More...OrthoDBi		1406711at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P02461

TreeFam database of animal gene trees

More...TreeFami		TF344135

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008160, Collagen
IPR000885, Fib_collagen_C
IPR001007, VWF_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01410, COLFI, 1 hit
PF01391, Collagen, 8 hits
PF00093, VWC, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00038, COLFI, 1 hit
SM00214, VWC, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51461, NC1_FIB, 1 hit
PS01208, VWFC_1, 1 hit
PS50184, VWFC_2, 1 hit

<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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P02461-1) [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
MMSFVQKGSW LLLALLHPTI ILAQQEAVEG GCSHLGQSYA DRDVWKPEPC 
        60         70         80         90        100
QICVCDSGSV LCDDIICDDQ ELDCPNPEIP FGECCAVCPQ PPTAPTRPPN 
       110        120        130        140        150
GQGPQGPKGD PGPPGIPGRN GDPGIPGQPG SPGSPGPPGI CESCPTGPQN 
       160        170        180        190        200
YSPQYDSYDV KSGVAVGGLA GYPGPAGPPG PPGPPGTSGH PGSPGSPGYQ 
       210        220        230        240        250
GPPGEPGQAG PSGPPGPPGA IGPSGPAGKD GESGRPGRPG ERGLPGPPGI 
       260        270        280        290        300
KGPAGIPGFP GMKGHRGFDG RNGEKGETGA PGLKGENGLP GENGAPGPMG 
       310        320        330        340        350
PRGAPGERGR PGLPGAAGAR GNDGARGSDG QPGPPGPPGT AGFPGSPGAK 
       360        370        380        390        400
GEVGPAGSPG SNGAPGQRGE PGPQGHAGAQ GPPGPPGING SPGGKGEMGP 
       410        420        430        440        450
AGIPGAPGLM GARGPPGPAG ANGAPGLRGG AGEPGKNGAK GEPGPRGERG 
       460        470        480        490        500
EAGIPGVPGA KGEDGKDGSP GEPGANGLPG AAGERGAPGF RGPAGPNGIP 
       510        520        530        540        550
GEKGPAGERG APGPAGPRGA AGEPGRDGVP GGPGMRGMPG SPGGPGSDGK 
       560        570        580        590        600
PGPPGSQGES GRPGPPGPSG PRGQPGVMGF PGPKGNDGAP GKNGERGGPG 
       610        620        630        640        650
GPGPQGPPGK NGETGPQGPP GPTGPGGDKG DTGPPGPQGL QGLPGTGGPP 
       660        670        680        690        700
GENGKPGEPG PKGDAGAPGA PGGKGDAGAP GERGPPGLAG APGLRGGAGP 
       710        720        730        740        750
PGPEGGKGAA GPPGPPGAAG TPGLQGMPGE RGGLGSPGPK GDKGEPGGPG 
       760        770        780        790        800
ADGVPGKDGP RGPTGPIGPP GPAGQPGDKG EGGAPGLPGI AGPRGSPGER 
       810        820        830        840        850
GETGPPGPAG FPGAPGQNGE PGGKGERGAP GEKGEGGPPG VAGPPGGSGP 
       860        870        880        890        900
AGPPGPQGVK GERGSPGGPG AAGFPGARGL PGPPGSNGNP GPPGPSGSPG 
       910        920        930        940        950
KDGPPGPAGN TGAPGSPGVS GPKGDAGQPG EKGSPGAQGP PGAPGPLGIA 
       960        970        980        990       1000
GITGARGLAG PPGMPGPRGS PGPQGVKGES GKPGANGLSG ERGPPGPQGL 
      1010       1020       1030       1040       1050
PGLAGTAGEP GRDGNPGSDG LPGRDGSPGG KGDRGENGSP GAPGAPGHPG 
      1060       1070       1080       1090       1100
PPGPVGPAGK SGDRGESGPA GPAGAPGPAG SRGAPGPQGP RGDKGETGER 
      1110       1120       1130       1140       1150
GAAGIKGHRG FPGNPGAPGS PGPAGQQGAI GSPGPAGPRG PVGPSGPPGK 
      1160       1170       1180       1190       1200
DGTSGHPGPI GPPGPRGNRG ERGSEGSPGH PGQPGPPGPP GAPGPCCGGV 
      1210       1220       1230       1240       1250
GAAAIAGIGG EKAGGFAPYY GDEPMDFKIN TDEIMTSLKS VNGQIESLIS 
      1260       1270       1280       1290       1300
PDGSRKNPAR NCRDLKFCHP ELKSGEYWVD PNQGCKLDAI KVFCNMETGE 
      1310       1320       1330       1340       1350
TCISANPLNV PRKHWWTDSS AEKKHVWFGE SMDGGFQFSY GNPELPEDVL 
      1360       1370       1380       1390       1400
DVHLAFLRLL SSRASQNITY HCKNSIAYMD QASGNVKKAL KLMGSNEGEF 
      1410       1420       1430       1440       1450
KAEGNSKFTY TVLEDGCTKH TGEWSKTVFE YRTRKAVRLP IVDIAPYDIG 
      1460 
GPDQEFGVDV GPVCFL
Length:1,466
Mass (Da):138,564
Last modified:January 23, 2007 - v4
<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:iB904B4E05E17D339
GO
Isoform 2 (identifier: P02461-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     847-1149: Missing.

Show »
Length:1,163
Mass (Da):111,907
Checksum:iBE06E5CA84FBB829
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
H7C435H7C435_HUMAN
Collagen alpha-1(III) chain
COL3A1
90Annotation 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 conflicti163G → GG in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti168G → V AA sequence (PubMed:557335).Curated1
Sequence conflicti226 – 228Missing AA sequence (PubMed:557335).Curated3
Sequence conflicti241E → D in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti278T → A AA sequence (PubMed:557335).Curated1
Sequence conflicti293 – 295NGA → DGS AA sequence (PubMed:557335).Curated3
Sequence conflicti401A → L AA sequence (PubMed:7864881).Curated1
Sequence conflicti409L → P AA sequence (PubMed:7864881).Curated1
Sequence conflicti472E → D in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti488 – 490PGF → LGS in CAA33387 (PubMed:2780304).Curated3
Sequence conflicti589A → E AA sequence (PubMed:7864881).Curated1
Sequence conflicti614T → Y in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti635P → R in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti664D → E in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti676D → N AA sequence (PubMed:687591).Curated1
Sequence conflicti803T → P AA sequence (PubMed:7864881).Curated1
Sequence conflicti896S → A AA sequence (PubMed:6246925).Curated1
Sequence conflicti980S → A AA sequence (PubMed:7016180).Curated1
Sequence conflicti985 – 989ANGLS → PSGQN AA sequence (PubMed:7016180).Curated5
Sequence conflicti1019D → Y in CAA29886 (PubMed:3357782).Curated1
Sequence conflicti1067S → P AA sequence (PubMed:7864881).Curated1
Sequence conflicti1070A → P AA sequence (PubMed:7864881).Curated1
Sequence conflicti1097T → P AA sequence (PubMed:7016180).Curated1
Sequence conflicti1153 – 1154TS → AT AA sequence (PubMed:7016180).Curated2
Sequence conflicti1156H → S AA sequence (PubMed:7016180).Curated1
Sequence conflicti1184P → S in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti1203A → P in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti1210G → A in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti1222D → P in AAA52002 (PubMed:2579949).Curated1
Sequence conflicti1235M → I in AAA52002 (PubMed:2579949).Curated1
Sequence conflicti1241V → A in CAA29886 (PubMed:3357782).Curated1
Sequence conflicti1241V → A in CAA25879 (PubMed:6096827).Curated1
Sequence conflicti1274S → T in AAA52002 (PubMed:2579949).Curated1
Sequence conflicti1332M → I in AAA52002 (PubMed:2579949).Curated1
Sequence conflicti1357L → P in AAA52002 (PubMed:2579949).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08204349P → A in PMGEDSV; does not affect interaction with ADGRG1. 2 PublicationsCorresponds to variant dbSNP:rs1234344050EnsemblClinVar.1
Natural variantiVAR_001767169L → F. Corresponds to variant dbSNP:rs111391222EnsemblClinVar.1
Natural variantiVAR_001768183G → C in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs121912926EnsemblClinVar.1
Natural variantiVAR_011095183G → D in EDSVASC. Corresponds to variant dbSNP:rs587779420EnsemblClinVar.1
Natural variantiVAR_011096183G → S in EDSVASC. Corresponds to variant dbSNP:rs121912926EnsemblClinVar.1
Natural variantiVAR_011097192G → V in EDSVASC. Corresponds to variant dbSNP:rs587779710EnsemblClinVar.1
Natural variantiVAR_001769201G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779436EnsemblClinVar.1
Natural variantiVAR_011098204G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779626EnsemblClinVar.1
Natural variantiVAR_011099204G → S in EDSVASC. Corresponds to variant dbSNP:rs587779711EnsemblClinVar.1
Natural variantiVAR_011100210G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011101219G → C in EDSVASC. Corresponds to variant dbSNP:rs587779624EnsemblClinVar.1
Natural variantiVAR_011102225G → V in EDSVASC. Corresponds to variant dbSNP:rs587779533EnsemblClinVar.1
Natural variantiVAR_001770228G → E in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779555EnsemblClinVar.1
Natural variantiVAR_011103240G → R in EDSVASC. Corresponds to variant dbSNP:rs587779468EnsemblClinVar.1
Natural variantiVAR_011104243G → V in EDSVASC. Corresponds to variant dbSNP:rs587779629EnsemblClinVar.1
Natural variantiVAR_011105249G → D in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar.1
Natural variantiVAR_011106249G → V in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar.1
Natural variantiVAR_011107252G → D in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar.1
Natural variantiVAR_011108252G → R in EDSVASC. Corresponds to variant dbSNP:rs587779705EnsemblClinVar.1
Natural variantiVAR_011109252G → V in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar.1
Natural variantiVAR_011110255G → V in EDSVASC. Corresponds to variant dbSNP:rs587779605EnsemblClinVar.1
Natural variantiVAR_011111264G → R in EDSVASC. 1 Publication1
Natural variantiVAR_011112267G → V in EDSVASC. Corresponds to variant dbSNP:rs587779427EnsemblClinVar.1
Natural variantiVAR_037007297G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs1553507557EnsemblClinVar.1
Natural variantiVAR_001771303G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912919EnsemblClinVar.1
Natural variantiVAR_011113321G → V in EDSVASC. Corresponds to variant dbSNP:rs587779588EnsemblClinVar.1
Natural variantiVAR_011114327G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011115345G → R in EDSVASC. Corresponds to variant dbSNP:rs587779419EnsemblClinVar.1
Natural variantiVAR_011116417G → R in EDSVASC. Corresponds to variant dbSNP:rs587779637EnsemblClinVar.1
Natural variantiVAR_035738420G → S in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587779692EnsemblClinVar.1
Natural variantiVAR_082044428 – 1466Missing in PMGEDSV. 1 PublicationAdd BLAST1039
Natural variantiVAR_011117444G → R in EDSVASC. Corresponds to variant dbSNP:rs587779489EnsemblClinVar.1
Natural variantiVAR_011118489G → E in EDSVASC. Corresponds to variant dbSNP:rs587779476EnsemblClinVar.1
Natural variantiVAR_011119501G → R in EDSVASC. Corresponds to variant dbSNP:rs587779523EnsemblClinVar.1
Natural variantiVAR_011120519G → V in EDSVASC. 1
Natural variantiVAR_055665534G → E. Corresponds to variant dbSNP:rs41263744Ensembl.1
Natural variantiVAR_001772540G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779584Ensembl