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Protein

Collagen alpha-1(IV) chain

Gene

COL4A1

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

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.By similarity
Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. Inhibits expression of hypoxia-inducible factor 1alpha and ERK1/2 and p38 MAPK activation. Ligand for alpha1/beta1 integrin.3 Publications

<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

  • extracellular matrix structural constituent Source: BHF-UCL
  • extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL
  • platelet-derived growth factor binding Source: MGI

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

Biological processAngiogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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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-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils
R-HSA-3000157 Laminin 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-8948216 Collagen chain trimerization

SIGNOR Signaling Network Open Resource

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SIGNORi
P02462

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Collagen alpha-1(IV) chain
Cleaved into the following 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:COL4A1
<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 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000187498.14

Human Gene Nomenclature Database

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HGNCi
HGNC:2202 COL4A1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
120130 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P02462

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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Basement membrane, 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

Brain small vessel disease with or without ocular anomalies (BSVD)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by weakening of the blood vessels in the brain and retinal arteriolar tortuosity. In affected individuals, stroke is often the first symptom and is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke). Patients also have leukoencephalopathy and may experience seizures and migraine headaches accompanied by visual sensations known as auras.
See also OMIM:607595
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_030028562G → E in BSVD. 1 Publication1
Natural variantiVAR_073813708G → R in BSVD. 1 PublicationCorresponds to variant dbSNP:rs672601349EnsemblClinVar.1
Natural variantiVAR_064496720G → D in BSVD; diffuse small vessel disease of the brain associated with Axenfeld-Rieger anomaly and leukoencephalopathy. 2 PublicationsCorresponds to variant dbSNP:rs113994108EnsemblClinVar.1
Natural variantiVAR_064497755G → R in BSVD; associated with ocular anomalies of variable severity in some patients. 3 PublicationsCorresponds to variant dbSNP:rs672601346EnsemblClinVar.1
Natural variantiVAR_073814773G → R in BSVD. 2 PublicationsCorresponds to variant dbSNP:rs672601347EnsemblClinVar.1
Natural variantiVAR_064498805G → R in BSVD. 1 PublicationCorresponds to variant dbSNP:rs113994110Ensembl.1
Natural variantiVAR_073816882G → D in BSVD. 1 Publication1
Natural variantiVAR_0738211266G → R in BSVD. 1 Publication1
Natural variantiVAR_0738261627N → K in BSVD. 1 Publication1
Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries.
See also OMIM:611773
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064493498G → R in HANAC. 1 PublicationCorresponds to variant dbSNP:rs267606744EnsemblClinVar.1
Natural variantiVAR_044159498G → V in HANAC. 1 PublicationCorresponds to variant dbSNP:rs113994104EnsemblClinVar.1
Natural variantiVAR_064494510G → R in HANAC and RATOR. 2 PublicationsCorresponds to variant dbSNP:rs267606743EnsemblClinVar.1
Natural variantiVAR_044160519G → R in HANAC. 1 Publication1
Natural variantiVAR_064495525G → L in HANAC; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_044161528G → E in HANAC. 1 PublicationCorresponds to variant dbSNP:rs113994106EnsemblClinVar.1
Porencephaly 1 (POREN1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres, neurologic manifestations, facial paresis, and visual defects. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma.
See also OMIM:175780
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030029749G → S in POREN1. 1 Publication1
Natural variantiVAR_0300301130G → D in POREN1. 1 PublicationCorresponds to variant dbSNP:rs113994111EnsemblClinVar.1
Natural variantiVAR_0300311236G → R in POREN1. 1 PublicationCorresponds to variant dbSNP:rs113994112EnsemblClinVar.1
Natural variantiVAR_0300321423G → R in POREN1. 1 Publication1
Natural variantiVAR_0644991580G → R in POREN1. 1 PublicationCorresponds to variant dbSNP:rs113994114EnsemblClinVar.1
Intracerebral hemorrhage (ICH)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke.
See also OMIM:614519
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073810352P → L in ICH; the mutant protein is retained intracellularly and is not secreted normally. 1 Publication1
Natural variantiVAR_073811538R → G in ICH; the mutant protein is retained intracellularly and is not secreted normally. 1 PublicationCorresponds to variant dbSNP:rs397514624EnsemblClinVar.1
Tortuosity of retinal arteries (RATOR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Most patients manifest variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma.
See also OMIM:180000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064494510G → R in HANAC and RATOR. 2 PublicationsCorresponds to variant dbSNP:rs267606743EnsemblClinVar.1
Schizencephaly (SCHZC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionExtremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.
See also OMIM:269160
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073812655G → R in SCHZC. 1 Publication1
Natural variantiVAR_073815870G → R in SCHZC. 1 Publication1
Natural variantiVAR_073817897G → S in SCHZC. 1 Publication1
Natural variantiVAR_073818948G → S in SCHZC. 1 Publication1
Natural variantiVAR_0738191041G → E in SCHZC. 1 Publication1
Natural variantiVAR_0738201082G → E in SCHZC. 1 Publication1
Natural variantiVAR_0738221326G → R in SCHZC. 1 PublicationCorresponds to variant dbSNP:rs587777379EnsemblClinVar.1
Natural variantiVAR_0738231332G → D in SCHZC. 1 Publication1
Natural variantiVAR_0738251615E → K in SCHZC. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
1282

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

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GeneReviewsi
COL4A1

MalaCards human disease database

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MalaCardsi
COL4A1
MIMi175780 phenotype
180000 phenotype
269160 phenotype
607595 phenotype
611773 phenotype
614519 phenotype

Open Targets

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OpenTargetsi
ENSG00000187498

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

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Orphaneti
36383 COL4A1-related familial vascular leukoencephalopathy
99810 Familial porencephaly
481986 Familial schizencephaly
73229 HANAC syndrome
477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy
75326 Retinal arterial tortuosity
899 Walker-Warburg syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26717

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2364188

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
COL4A1

Domain mapping of disease mutations (DMDM)

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DMDMi
125987809

<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 – 271 PublicationAdd BLAST27
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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_000000574828 – 172N-terminal propeptide (7S domain)Add BLAST145
<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_0000005749173 – 1669Collagen alpha-1(IV) chainAdd BLAST1497
ChainiPRO_00003904821445 – 1669ArrestenAdd BLAST225

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>Glycosylationi126N-linked (GlcNAc...) asparagine1
<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 residuei2043-hydroxyprolineBy similarity1
Modified residuei2073-hydroxyprolineBy similarity1
Modified residuei2103-hydroxyprolineBy similarity1
Modified residuei5873-hydroxyprolineBy similarity1
Modified residuei6023-hydroxyprolineBy similarity1
Modified residuei6034-hydroxyprolineBy similarity1
Modified residuei6053-hydroxyprolineBy similarity1
Modified residuei6064-hydroxyprolineBy similarity1
Modified residuei6234-hydroxyprolineBy similarity1
Modified residuei6264-hydroxyprolineBy similarity1
Modified residuei6294-hydroxyprolineBy similarity1
Modified residuei6324-hydroxyprolineBy similarity1
Modified residuei6473-hydroxyprolineBy similarity1
Modified residuei12143-hydroxyprolineBy similarity1
Modified residuei14243-hydroxyprolineBy similarity1
<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 bondi1460 ↔ 1551PROSITE-ProRule annotation1 Publication
Disulfide bondi1493 ↔ 1548PROSITE-ProRule annotation1 Publication
Disulfide bondi1505 ↔ 1511PROSITE-ProRule annotation1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki1533S-Lysyl-methionine sulfilimine (Met-Lys) (interchain with K-1651)1 Publication
Disulfide bondi1570 ↔ 1665PROSITE-ProRule annotation1 Publication
Disulfide bondi1604 ↔ 1662PROSITE-ProRule annotation1 Publication
Disulfide bondi1616 ↔ 1622PROSITE-ProRule annotation1 Publication
Cross-linki1651S-Lysyl-methionine sulfilimine (Lys-Met) (interchain with M-1533)1 Publication

<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

Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated. The modified lysines can be O-glycosylated.1 Publication
Contains 4-hydroxyproline (Probable). Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains (By similarity).By similarity1 Publication
Contains 3-hydroxyproline. This modification occurs on the first proline residue in the sequence motif Gly-Pro-Hyp, where Hyp is 4-hydroxyproline.By similarity
Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding (PubMed:2844531). 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.Curated1 Publication
The trimeric structure of the NC1 domains is stabilized by covalent bonds (sulfilimine cross-links) between Lys and Met residues (PubMed:12011424). These cross-links are important for the mechanical stability of the basement membrane (By similarity).By similarity1 Publication
Proteolytic processing produces the C-terminal NC1 peptide, arresten.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P02462

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P02462

MaxQB - The MaxQuant DataBase

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MaxQBi
P02462

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

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PaxDbi
P02462

PeptideAtlas

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PeptideAtlasi
P02462

PRoteomics IDEntifications database

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PRIDEi
P02462

ProteomicsDB human proteome resource

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ProteomicsDBi
51524
51525 [P02462-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P02462

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

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PhosphoSitePlusi
P02462

SwissPalm database of S-palmitoylation events

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SwissPalmi
P02462

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in placenta.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000187498 Expressed in 229 organ(s), highest expression level in visceral pleura

CleanEx database of gene expression profiles

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CleanExi
HS_COL4A1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P02462 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P02462 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB001695
HPA054039

<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

There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network.By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
COL4A2P085722EBI-2432478,EBI-2432506

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107679, 24 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1723 Collagen type IV trimer variant 1

Protein interaction database and analysis system

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IntActi
P02462, 26 interactors

Molecular INTeraction database

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MINTi
P02462

STRING: functional protein association networks

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STRINGi
9606.ENSP00000364979

<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

11669
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
1LI1X-ray1.90A/B/D/E1441-1669[»]
5NAXX-ray2.82A/B/D/F1441-1669[»]
5NAYX-ray1.80A/B/C/D/E/F1441-1669[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P02462

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

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SMRi
P02462

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P02462

<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>Domaini1445 – 1669Collagen IV NC1PROSITE-ProRule annotationAdd BLAST225

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>Regioni173 – 1440Triple-helical regionAdd BLAST1268

<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

Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain.Curated

<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 IV collagen family.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3544 Eukaryota
ENOG410XNMM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157678

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG004933

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P02462

KEGG Orthology (KO)

More...
KOi
K06237

Identification of Orthologs from Complete Genome Data

More...
OMAi
DPQCPPG

Database of Orthologous Groups

More...
OrthoDBi
63831at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P02462

TreeFam database of animal gene trees

More...
TreeFami
TF316865

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.170.240.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008160 Collagen
IPR001442 Collagen_IV_NC
IPR036954 Collagen_IV_NC_sf
IPR016187 CTDL_fold

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01413 C4, 2 hits
PF01391 Collagen, 16 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00111 C4, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56436 SSF56436, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51403 NC1_IV, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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 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.<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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P02462-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MGPRLSVWLL LLPAALLLHE EHSRAAAKGG CAGSGCGKCD CHGVKGQKGE
60 70 80 90 100
RGLPGLQGVI GFPGMQGPEG PQGPPGQKGD TGEPGLPGTK GTRGPPGASG
110 120 130 140 150
YPGNPGLPGI PGQDGPPGPP GIPGCNGTKG ERGPLGPPGL PGFAGNPGPP
160 170 180 190 200
GLPGMKGDPG EILGHVPGML LKGERGFPGI PGTPGPPGLP GLQGPVGPPG
210 220 230 240 250
FTGPPGPPGP PGPPGEKGQM GLSFQGPKGD KGDQGVSGPP GVPGQAQVQE
260 270 280 290 300
KGDFATKGEK GQKGEPGFQG MPGVGEKGEP GKPGPRGKPG KDGDKGEKGS
310 320 330 340 350
PGFPGEPGYP GLIGRQGPQG EKGEAGPPGP PGIVIGTGPL GEKGERGYPG
360 370 380 390 400
TPGPRGEPGP KGFPGLPGQP GPPGLPVPGQ AGAPGFPGER GEKGDRGFPG
410 420 430 440 450
TSLPGPSGRD GLPGPPGSPG PPGQPGYTNG IVECQPGPPG DQGPPGIPGQ
460 470 480 490 500
PGFIGEIGEK GQKGESCLIC DIDGYRGPPG PQGPPGEIGF PGQPGAKGDR
510 520 530 540 550
GLPGRDGVAG VPGPQGTPGL IGQPGAKGEP GEFYFDLRLK GDKGDPGFPG
560 570 580 590 600
QPGMPGRAGS PGRDGHPGLP GPKGSPGSVG LKGERGPPGG VGFPGSRGDT
610 620 630 640 650
GPPGPPGYGP AGPIGDKGQA GFPGGPGSPG LPGPKGEPGK IVPLPGPPGA
660 670 680 690 700
EGLPGSPGFP GPQGDRGFPG TPGRPGLPGE KGAVGQPGIG FPGPPGPKGV
710 720 730 740 750
DGLPGDMGPP GTPGRPGFNG LPGNPGVQGQ KGEPGVGLPG LKGLPGLPGI
760 770 780 790 800
PGTPGEKGSI GVPGVPGEHG AIGPPGLQGI RGEPGPPGLP GSVGSPGVPG
810 820 830 840 850
IGPPGARGPP GGQGPPGLSG PPGIKGEKGF PGFPGLDMPG PKGDKGAQGL
860 870 880 890 900
PGITGQSGLP GLPGQQGAPG IPGFPGSKGE MGVMGTPGQP GSPGPVGAPG
910 920 930 940 950
LPGEKGDHGF PGSSGPRGDP GLKGDKGDVG LPGKPGSMDK VDMGSMKGQK
960 970 980 990 1000
GDQGEKGQIG PIGEKGSRGD PGTPGVPGKD GQAGQPGQPG PKGDPGISGT
1010 1020 1030 1040 1050
PGAPGLPGPK GSVGGMGLPG TPGEKGVPGI PGPQGSPGLP GDKGAKGEKG
1060 1070 1080 1090 1100
QAGPPGIGIP GLRGEKGDQG IAGFPGSPGE KGEKGSIGIP GMPGSPGLKG
1110 1120 1130 1140 1150
SPGSVGYPGS PGLPGEKGDK GLPGLDGIPG VKGEAGLPGT PGPTGPAGQK
1160 1170 1180 1190 1200
GEPGSDGIPG SAGEKGEPGL PGRGFPGFPG AKGDKGSKGE VGFPGLAGSP
1210 1220 1230 1240 1250
GIPGSKGEQG FMGPPGPQGQ PGLPGSPGHA TEGPKGDRGP QGQPGLPGLP
1260 1270 1280 1290 1300
GPMGPPGLPG IDGVKGDKGN PGWPGAPGVP GPKGDPGFQG MPGIGGSPGI
1310 1320 1330 1340 1350
TGSKGDMGPP GVPGFQGPKG LPGLQGIKGD QGDQGVPGAK GLPGPPGPPG
1360 1370 1380 1390 1400
PYDIIKGEPG LPGPEGPPGL KGLQGLPGPK GQQGVTGLVG IPGPPGIPGF
1410 1420 1430 1440 1450
DGAPGQKGEM GPAGPTGPRG FPGPPGPDGL PGSMGPPGTP SVDHGFLVTR
1460 1470 1480 1490 1500
HSQTIDDPQC PSGTKILYHG YSLLYVQGNE RAHGQDLGTA GSCLRKFSTM
1510 1520 1530 1540 1550
PFLFCNINNV CNFASRNDYS YWLSTPEPMP MSMAPITGEN IRPFISRCAV
1560 1570 1580 1590 1600
CEAPAMVMAV HSQTIQIPPC PSGWSSLWIG YSFVMHTSAG AEGSGQALAS
1610 1620 1630 1640 1650
PGSCLEEFRS APFIECHGRG TCNYYANAYS FWLATIERSE MFKKPTPSTL
1660
KAGELRTHVS RCQVCMRRT
Length:1,669
Mass (Da):160,611
Last modified:May 23, 2018 - 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:i3BEBA6DFFB9B8A84
GO
Isoform 2 (identifier: P02462-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     513-519: GPQGTPG → LLFQIHK
     520-1669: Missing.

Note: Gene prediction based on EST data.
Show »
Length:519
Mass (Da):50,155
Checksum:i30AFE848C3BF46B3
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WTY5A0A087WTY5_HUMAN
Collagen alpha-1(IV) chain
COL4A1
236Annotation 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>
A0A3B3ISV3A0A3B3ISV3_HUMAN
Collagen alpha-1(IV) chain
COL4A1
386Annotation 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>
A0A3B3ISH5A0A3B3ISH5_HUMAN
Collagen alpha-1(IV) chain
COL4A1
148Annotation 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>
A0A3B3ITG7A0A3B3ITG7_HUMAN
Collagen alpha-1(IV) chain
COL4A1
414Annotation 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>
A0A3B3ISZ8A0A3B3ISZ8_HUMAN
Collagen alpha-1(IV) chain
COL4A1
177Annotation 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>
A0A3B3ITS9A0A3B3ITS9_HUMAN
Collagen alpha-1(IV) chain
COL4A1
12Annotation 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>
A0A3B3ITC8A0A3B3ITC8_HUMAN
Collagen alpha-1(IV) chain
COL4A1
20Annotation 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>
A0A3B3IU02A0A3B3IU02_HUMAN
Collagen alpha-1(IV) chain
COL4A1
17Annotation 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>
A0A3B3IUD0A0A3B3IUD0_HUMAN
Collagen alpha-1(IV) chain
COL4A1
30Annotation 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 conflicti237 – 238SG → KE AA sequence (PubMed:4043082).Curated2
Sequence conflicti241G → K AA sequence (PubMed:4043082).Curated1
Sequence conflicti319Q → A in CAA29075 (PubMed:3311751).Curated1
Sequence conflicti719N → D AA sequence (PubMed:6434307).Curated1
Sequence conflicti837D → Y AA sequence (PubMed:6434307).Curated1
Sequence conflicti842K → P AA sequence (PubMed:6434307).Curated1
Sequence conflicti896V → W in CAA68698 (PubMed:3691802).Curated1
Sequence conflicti904E → Q AA sequence (PubMed:6434307).Curated1
Sequence conflicti914S → K AA sequence (PubMed:6434307).Curated1
Sequence conflicti998S → K AA sequence (PubMed:6434307).Curated1
Sequence conflicti1010K → P AA sequence (PubMed:6434307).Curated1
Sequence conflicti1012S → K AA sequence (PubMed:6434307).Curated1
Sequence conflicti1358E → Q AA sequence (PubMed:6434307).Curated1
Sequence conflicti1490A → T in ABE73157 (PubMed:16481288).Curated1
Sequence conflicti1507I → T in ABE73157 (PubMed:16481288).Curated1
Sequence conflicti1519Y → C in ABE73157 (PubMed:16481288).Curated1
Sequence conflicti1570C → Y in AAM97359 (Ref. 16) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0300277V → L1 PublicationCorresponds to variant dbSNP:rs9515185EnsemblClinVar.1
Natural variantiVAR_073809144A → V1 Publication1
Natural variantiVAR_044158304P → L. Corresponds to variant dbSNP:rs34843786Ensembl.1
Natural variantiVAR_073810352P → L in ICH; the mutant protein is retained intracellularly and is not secreted normally. 1 Publication1
Natural variantiVAR_064493498G → R in HANAC. 1 PublicationCorresponds to variant dbSNP:rs267606744EnsemblClinVar.1
Natural variantiVAR_044159498G → V in HANAC. 1 PublicationCorresponds to variant dbSNP:rs113994104EnsemblClinVar.1
Natural variantiVAR_064494510G → R in HANAC and RATOR. 2 PublicationsCorresponds to variant dbSNP:rs267606743EnsemblClinVar.1
Natural variantiVAR_044160519G → R in HANAC. 1 Publication1
Natural variantiVAR_064495525G → L in HANAC; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_044161528G → E in HANAC. 1 PublicationCorresponds to variant dbSNP:rs113994106EnsemblClinVar.1
Natural variantiVAR_073811538R → G in ICH; the mutant protein is retained intracellularly and is not secreted normally. 1 PublicationCorresponds to variant dbSNP:rs397514624EnsemblClinVar.1
Natural variantiVAR_030511555P → T. Corresponds to variant dbSNP:rs536174Ensembl.1
Natural variantiVAR_030028562G → E in BSVD. 1 Publication1
Natural variantiVAR_073812655G → R in SCHZC. 1 Publication1
Natural variantiVAR_073813708G → R in BSVD. 1 PublicationCorresponds to variant dbSNP:rs672601349EnsemblClinVar.1
Natural variantiVAR_064496720G → D in BSVD; diffuse small vessel disease of the brain associated with Axenfeld-Rieger anomaly and leukoencephalopathy. 2 PublicationsCorresponds to variant dbSNP:rs113994108EnsemblClinVar.1
Natural variantiVAR_030029749G → S in POREN1. 1 Publication1
Natural variantiVAR_064497755G → R in BSVD; associated with ocular anomalies of variable severity in some patients. 3 PublicationsCorresponds to variant dbSNP:rs672601346EnsemblClinVar.1
Natural variantiVAR_073814773G → R in BSVD. 2 PublicationsCorresponds to variant dbSNP:rs672601347EnsemblClinVar.1
Natural variantiVAR_064498805G → R in BSVD. 1 PublicationCorresponds to variant dbSNP:rs113994110Ensembl.1
Natural variantiVAR_073815870G → R in SCHZC. 1 Publication1
Natural variantiVAR_073816882G → D in BSVD. 1 Publication1
Natural variantiVAR_073817897G → S in SCHZC. 1 Publication1
Natural variantiVAR_073818948G → S in SCHZC. 1 Publication1
Natural variantiVAR_0738191041G → E in SCHZC. 1 Publication1
Natural variantiVAR_0738201082G → E in SCHZC. 1 Publication1
Natural variantiVAR_0300301130G → D in POREN1. 1 PublicationCorresponds to variant dbSNP:rs113994111EnsemblClinVar.1
Natural variantiVAR_0300311236G → R in POREN1. 1 PublicationCorresponds to variant dbSNP:rs113994112EnsemblClinVar.1
Natural variantiVAR_0738211266G → R in BSVD. 1 Publication1
Natural variantiVAR_0738221326G → R in SCHZC. 1 PublicationCorresponds to variant dbSNP:rs587777379EnsemblClinVar.1
Natural variantiVAR_0738231332G → D in SCHZC. 1 Publication1
Natural variantiVAR_0200131334Q → H2 PublicationsCorresponds to variant dbSNP:rs3742207EnsemblClinVar.1
Natural variantiVAR_0300321423G → R in POREN1. 1 Publication1
Natural variantiVAR_0738241531M → V1 PublicationCorresponds to variant dbSNP:rs1343193102Ensembl.1
Natural variantiVAR_0644991580G → R in POREN1. 1 PublicationCorresponds to variant dbSNP:rs113994114EnsemblClinVar.1
Natural variantiVAR_0738251615E → K in SCHZC. 1 Publication1
Natural variantiVAR_0738261627N → K in BSVD. 1 Publication1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_059564513 – 519GPQGTPG → LLFQIHK in isoform 2. Curated7
Alternative sequenceiVSP_059565520 – 1669Missing in isoform 2. CuratedAdd BLAST1150

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
M26576
, J04217, M26550, M26540, M26542, M26543, M26544, M26545, M26546, M26547, M26537, M26538, M26548, M26549, M26551, M26552, M26553, M26554, M26555, M26556, M26557, M26539, M26558, M26559, M26560, M26561, M26562, M26536, M26563, M26541, M26564, M26565, M26566, M26567, M26568, M26569, M26570, M26571, M26572, M26573, M26574, M26575 Genomic DNA Translation: AAA53098.1
AL161773 Genomic DNA No translation available.
AL390755 Genomic DNA No translation available.
KF455822 Genomic DNA No translation available.
BC047305 mRNA Translation: AAH47305.1
BC151220 mRNA Translation: AAI51221.1
X05561 mRNA Translation: CAA29075.1
Y00706 mRNA Translation: CAA68698.1
M10940 mRNA Translation: AAA52006.1
M11315 mRNA Translation: AAA52042.1
AF258349 mRNA Translation: AAF72630.1
AF363672 mRNA Translation: AAK53382.1
AF400431 mRNA Translation: AAK92480.1
AY285780 mRNA Translation: AAP43112.1
AF536207 mRNA Translation: AAM97359.1
DQ464183 mRNA Translation: ABE73157.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS76649.1 [P02462-2]
CCDS9511.1 [P02462-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
S16876 CGHU4B

NCBI Reference Sequences

More...
RefSeqi
NP_001290039.1, NM_001303110.1 [P02462-2]
NP_001836.3, NM_001845.5 [P02462-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.17441

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000375820; ENSP00000364979; ENSG00000187498 [P02462-1]
ENST00000543140; ENSP00000443348; ENSG00000187498 [P02462-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1282

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1282

UCSC genome browser

More...
UCSCi
uc001vqw.4 human [P02462-1]

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
M26576
, J04217, M26550, M26540, M26542, M26543, M26544, M26545, M26546, M26547, M26537, M26538, M26548, M26549, M26551, M26552, M26553, M26554, M26555, M26556, M26557, M26539, M26558, M26559, M26560, M26561, M26562, M26536, M26563, M26541, M26564, M26565, M26566, M26567, M26568, M26569, M26570, M26571, M26572, M26573, M26574, M26575 Genomic DNA Translation: AAA53098.1
AL161773 Genomic DNA No translation available.
AL390755 Genomic DNA No translation available.
KF455822 Genomic DNA No translation available.
BC047305 mRNA Translation: AAH47305.1
BC151220 mRNA Translation: AAI51221.1
X05561 mRNA Translation: CAA29075.1
Y00706 mRNA Translation: CAA68698.1
M10940 mRNA Translation: AAA52006.1
M11315 mRNA Translation: AAA52042.1
AF258349 mRNA Translation: AAF72630.1
AF363672 mRNA Translation: AAK53382.1
AF400431 mRNA Translation: AAK92480.1
AY285780 mRNA Translation: AAP43112.1
AF536207 mRNA Translation: AAM97359.1
DQ464183 mRNA Translation: ABE73157.1
CCDSiCCDS76649.1 [P02462-2]
CCDS9511.1 [P02462-1]
PIRiS16876 CGHU4B
RefSeqiNP_001290039.1, NM_001303110.1 [P02462-2]
NP_001836.3, NM_001845.5 [P02462-1]
UniGeneiHs.17441

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LI1X-ray1.90A/B/D/E1441-1669[»]
5NAXX-ray2.82A/B/D/F1441-1669[»]
5NAYX-ray1.80A/B/C/D/E/F1441-1669[»]
ProteinModelPortaliP02462
SMRiP02462
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107679, 24 interactors
ComplexPortaliCPX-1723 Collagen type IV trimer variant 1
IntActiP02462, 26 interactors
MINTiP02462
STRINGi9606.ENSP00000364979

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

iPTMnetiP02462
PhosphoSitePlusiP02462
SwissPalmiP02462

Polymorphism and mutation databases

BioMutaiCOL4A1
DMDMi125987809

Proteomic databases

EPDiP02462
jPOSTiP02462
MaxQBiP02462
PaxDbiP02462
PeptideAtlasiP02462
PRIDEiP02462
ProteomicsDBi51524
51525 [P02462-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375820; ENSP00000364979; ENSG00000187498 [P02462-1]
ENST00000543140; ENSP00000443348; ENSG00000187498 [P02462-2]
GeneIDi1282
KEGGihsa:1282
UCSCiuc001vqw.4 human [P02462-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1282
DisGeNETi1282
EuPathDBiHostDB:ENSG00000187498.14

GeneCards: human genes, protein and diseases

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GeneCardsi
COL4A1
GeneReviewsiCOL4A1
HGNCiHGNC:2202 COL4A1
HPAiCAB001695
HPA054039
MalaCardsiCOL4A1
MIMi120130 gene
175780 phenotype
180000 phenotype
269160 phenotype
607595 phenotype
611773 phenotype
614519 phenotype
neXtProtiNX_P02462
OpenTargetsiENSG00000187498
Orphaneti36383 COL4A1-related familial vascular leukoencephalopathy
99810 Familial porencephaly
481986 Familial schizencephaly
73229 HANAC syndrome
477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy
75326 Retinal arterial tortuosity
899 Walker-Warburg syndrome
PharmGKBiPA26717

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00940000157678
HOVERGENiHBG004933
InParanoidiP02462
KOiK06237
OMAiDPQCPPG
OrthoDBi63831at2759
PhylomeDBiP02462
TreeFamiTF316865

Enzyme and pathway databases

ReactomeiR-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-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils
R-HSA-3000157 Laminin 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-8948216 Collagen chain trimerization
SIGNORiP02462

Miscellaneous databases

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

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ChiTaRSi
COL4A1 human
EvolutionaryTraceiP02462

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Collagen,_type_IV,_alpha_1

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

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GenomeRNAii
1282

Protein Ontology

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PROi
PR:P02462

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000187498 Expressed in 229 organ(s), highest expression level in visceral pleura
CleanExiHS_COL4A1
ExpressionAtlasiP02462 baseline and differential
GenevisibleiP02462 HS

Family and domain databases

Gene3Di2.170.240.10, 1 hit
InterProiView protein in InterPro
IPR008160 Collagen
IPR001442 Collagen_IV_NC
IPR036954 Collagen_IV_NC_sf
IPR016187 CTDL_fold
PfamiView protein in Pfam
PF01413 C4, 2 hits
PF01391 Collagen, 16 hits
SMARTiView protein in SMART
SM00111 C4, 2 hits
SUPFAMiSSF56436 SSF56436, 2 hits
PROSITEiView protein in PROSITE
PS51403 NC1_IV, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCO4A1_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: P02462
Secondary accession number(s): A7E2W4
, B1AM70, F5H5K0, Q1P9S9, Q5VWF6, Q86X41, Q8NF88, Q9NYC5
<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: July 21, 1986
Last sequence update: May 23, 2018
Last modified: January 16, 2019
This is version 204 of the entry and version 4 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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