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Protein

Collagen alpha-4(IV) chain

Gene

COL4A4

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.

<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: UniProtKB

GO - Biological processi

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-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization

SIGNOR Signaling Network Open Resource

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SIGNORi
P53420

<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-4(IV) 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:COL4A4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000081052.11

Human Gene Nomenclature Database

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HGNCi
HGNC:2206 COL4A4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
120131 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P53420

<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

<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>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

Alport syndrome, autosomal recessive (APSAR)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.
See also OMIM:203780
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_008148441 – 446Missing in APSAR. 6
Natural variantiVAR_0081531030G → V in APSAR. 1 Publication1
Natural variantiVAR_0019131201G → S in APSAR. 1 PublicationCorresponds to variant dbSNP:rs121912858EnsemblClinVar.1
Natural variantiVAR_0081551572P → L in APSAR. 1 PublicationCorresponds to variant dbSNP:rs121912863EnsemblClinVar.1
Hematuria, benign familial (BFH)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane.
See also OMIM:141200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031623116G → E in BFH. 1 Publication1
Natural variantiVAR_001912897G → E in BFH. 1 PublicationCorresponds to variant dbSNP:rs121912860EnsemblClinVar.1
Natural variantiVAR_031624960G → R in BFH. 2 PublicationsCorresponds to variant dbSNP:rs769783985EnsemblClinVar.1
Natural variantiVAR_031625999G → E in BFH. 1 PublicationCorresponds to variant dbSNP:rs13027659EnsemblClinVar.1
Natural variantiVAR_0316261132P → L in BFH. 1 Publication1

Keywords - Diseasei

Alport syndrome, Deafness, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1286

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

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GeneReviewsi
COL4A4

MalaCards human disease database

More...
MalaCardsi
COL4A4
MIMi141200 phenotype
203780 phenotype

Open Targets

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OpenTargetsi
ENSG00000081052

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

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Orphaneti
88918 Autosomal dominant Alport syndrome
88919 Autosomal recessive Alport syndrome
97562 NON RARE IN EUROPE: Benign familial hematuria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26721

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3988505

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
COL4A4

Domain mapping of disease mutations (DMDM)

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DMDMi
259016360

<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 – 38Sequence analysisAdd BLAST38
<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_000000585039 – 1690Collagen alpha-4(IV) chainAdd BLAST1652

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>Glycosylationi142N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi669N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi1480 ↔ 1569Or C-1480 with C-1566PROSITE-ProRule annotation
Disulfide bondi1513 ↔ 1566Or C-1513 with C-1569PROSITE-ProRule annotation
Disulfide bondi1525 ↔ 1531PROSITE-ProRule annotation
Disulfide bondi1588 ↔ 1686Or C-1588 with C-1683PROSITE-ProRule annotation
Disulfide bondi1622 ↔ 1683Or C-1622 with C-1686PROSITE-ProRule annotation
Disulfide bondi1634 ↔ 1641PROSITE-ProRule annotation

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

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.
The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei1206 – 1207Cleavage; by collagenaseBy similarity2

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P53420

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

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PaxDbi
P53420

PeptideAtlas

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PeptideAtlasi
P53420

PRoteomics IDEntifications database

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PRIDEi
P53420

ProteomicsDB human proteome resource

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ProteomicsDBi
56583

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P53420

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

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PhosphoSitePlusi
P53420

<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

Alpha 3 and alpha 4 type IV collagens are colocalized and present in kidney, eye, basement membranes of lens capsule, cochlea, lung, skeletal muscle, aorta, synaptic fibers, fetal kidney and fetal lung. PubMed:8083201 reports similar levels of expression of alpha 3 and alpha 4 type IV collagens in kidney, but PubMed:7523402 reports that in kidney levels of alpha 3 type IV collagen are significantly lower than those of alpha 4 type IV collagen. Highest levels of expression of alpha 4 type IV collagen are detected in kidney, calvaria, neuroretina and cardiac muscle. Lower levels of expression are observed in brain, lung and thymus, and no expression is detected in choroid plexus, liver, adrenal, pancreas, ileum or skin.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000081052 Expressed in 129 organ(s), highest expression level in metanephros

CleanEx database of gene expression profiles

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CleanExi
HS_COL4A4

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P53420 HS

<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. The alpha 3(IV) chain forms a triple helical protomer with alpha 4(IV) and alpha 5(IV); this triple helical structure dimerizes through NC1-NC1 domain interactions such that the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains of one protomer connect with the alpha 5(IV), alpha 4(IV) and alpha 3(IV) chains of the opposite protomer, respectively. Associates with LAMB2 at the neuromuscular junction and in GBM (By similarity).By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107683, 1 interactor

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1725 Collagen type IV trimer variant 3

Protein interaction database and analysis system

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IntActi
P53420, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000379866

<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

11690
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P53420

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

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SMRi
P53420

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...

<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>Domaini1465 – 1690Collagen IV NC1PROSITE-ProRule annotationAdd BLAST226

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>Regioni39 – 647S domainAdd BLAST26
Regioni65 – 1459Triple-helical regionAdd BLAST1395

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi94 – 96Cell attachment siteSequence analysis3
Motifi145 – 147Cell attachment siteSequence analysis3
Motifi189 – 191Cell attachment siteSequence analysis3
Motifi310 – 312Cell attachment siteSequence analysis3
Motifi724 – 726Cell attachment siteSequence analysis3
Motifi785 – 787Cell attachment siteSequence analysis3
Motifi989 – 991Cell attachment siteSequence analysis3
Motifi1212 – 1214Cell attachment siteSequence analysis3

<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.

<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

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eggNOGi
KOG3544 Eukaryota
ENOG410YAVF LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153991

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000085652

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004933

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P53420

KEGG Orthology (KO)

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KOi
K06237

Identification of Orthologs from Complete Genome Data

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OMAi
CNVTYPG

Database of Orthologous Groups

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OrthoDBi
EOG091G0613

Database for complete collections of gene phylogenies

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PhylomeDBi
P53420

TreeFam database of animal gene trees

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TreeFami
TF344135

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.170.240.10, 1 hit

Integrated resource of protein families, domains and functional sites

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

Pfam protein domain database

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Pfami
View protein in Pfam
PF01413 C4, 2 hits
PF01391 Collagen, 14 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00111 C4, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56436 SSF56436, 2 hits

PROSITE; a protein domain and family database

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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>Sequence (1+)i

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

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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

P53420-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWSLHIVLMR CSFRLTKSLA TGPWSLILIL FSVQYVYGSG KKYIGPCGGR
60 70 80 90 100
DCSVCHCVPE KGSRGPPGPP GPQGPIGPLG APGPIGLSGE KGMRGDRGPP
110 120 130 140 150
GAAGDKGDKG PTGVPGFPGL DGIPGHPGPP GPRGKPGMSG HNGSRGDPGF
160 170 180 190 200
PGGRGALGPG GPLGHPGEKG EKGNSVFILG AVKGIQGDRG DPGLPGLPGS
210 220 230 240 250
WGAGGPAGPT GYPGEPGLVG PPGQPGRPGL KGNPGVGVKG QMGDPGEVGQ
260 270 280 290 300
QGSPGPTLLV EPPDFCLYKG EKGIKGIPGM VGLPGPPGRK GESGIGAKGE
310 320 330 340 350
KGIPGFPGPR GDPGSYGSPG FPGLKGELGL VGDPGLFGLI GPKGDPGNRG
360 370 380 390 400
HPGPPGVLVT PPLPLKGPPG DPGFPGRYGE TGDVGPPGPP GLLGRPGEAC
410 420 430 440 450
AGMIGPPGPQ GFPGLPGLPG EAGIPGRPDS APGKPGKPGS PGLPGAPGLQ
460 470 480 490 500
GLPGSSVIYC SVGNPGPQGI KGKVGPPGGR GPKGEKGNEG LCACEPGPMG
510 520 530 540 550
PPGPPGLPGR QGSKGDLGLP GWLGTKGDPG PPGAEGPPGL PGKHGASGPP
560 570 580 590 600
GNKGAKGDMV VSRVKGHKGE RGPDGPPGFP GQPGSHGRDG HAGEKGDPGP
610 620 630 640 650
PGDHEDATPG GKGFPGPLGP PGKAGPVGPP GLGFPGPPGE RGHPGVPGHP
660 670 680 690 700
GVRGPDGLKG QKGDTISCNV TYPGRHGPPG FDGPPGPKGF PGPQGAPGLS
710 720 730 740 750
GSDGHKGRPG TPGTAEIPGP PGFRGDMGDP GFGGEKGSSP VGPPGPPGSP
760 770 780 790 800
GVNGQKGIPG DPAFGHLGPP GKRGLSGVPG IKGPRGDPGC PGAEGPAGIP
810 820 830 840 850
GFLGLKGPKG REGHAGFPGV PGPPGHSCER GAPGIPGQPG LPGYPGSPGA
860 870 880 890 900
PGGKGQPGDV GPPGPAGMKG LPGLPGRPGA HGPPGLPGIP GPFGDDGLPG
910 920 930 940 950
PPGPKGPRGL PGFPGFPGER GKPGAEGCPG AKGEPGEKGM SGLPGDRGLR
960 970 980 990 1000
GAKGAIGPPG DEGEMAIISQ KGTPGEPGPP GDDGFPGERG DKGTPGMQGR
1010 1020 1030 1040 1050
RGEPGRYGPP GFHRGEPGEK GQPGPPGPPG PPGSTGLRGF IGFPGLPGDQ
1060 1070 1080 1090 1100
GEPGSPGPPG FSGIDGARGP KGNKGDPASH FGPPGPKGEP GSPGCPGHFG
1110 1120 1130 1140 1150
ASGEQGLPGI QGPRGSPGRP GPPGSSGPPG CPGDHGMPGL RGQPGEMGDP
1160 1170 1180 1190 1200
GPRGLQGDPG IPGPPGIKGP SGSPGLNGLH GLKGQKGTKG ASGLHDVGPP
1210 1220 1230 1240 1250
GPVGIPGLKG ERGDPGSPGI SPPGPRGKKG PPGPPGSSGP PGPAGATGRA
1260 1270 1280 1290 1300
PKDIPDPGPP GDQGPPGPDG PRGAPGPPGL PGSVDLLRGE PGDCGLPGPP
1310 1320 1330 1340 1350
GPPGPPGPPG YKGFPGCDGK DGQKGPVGFP GPQGPHGFPG PPGEKGLPGP
1360 1370 1380 1390 1400
PGRKGPTGLP GPRGEPGPPA DVDDCPRIPG LPGAPGMRGP EGAMGLPGMR
1410 1420 1430 1440 1450
GPSGPGCKGE PGLDGRRGVD GVPGSPGPPG RKGDTGEDGY PGGPGPPGPI
1460 1470 1480 1490 1500
GDPGPKGFGP GYLGGFLLVL HSQTDQEPTC PLGMPRLWTG YSLLYLEGQE
1510 1520 1530 1540 1550
KAHNQDLGLA GSCLPVFSTL PFAYCNIHQV CHYAQRNDRS YWLASAAPLP
1560 1570 1580 1590 1600
MMPLSEEAIR PYVSRCAVCE APAQAVAVHS QDQSIPPCPQ TWRSLWIGYS
1610 1620 1630 1640 1650
FLMHTGAGDQ GGGQALMSPG SCLEDFRAAP FLECQGRQGT CHFFANKYSF
1660 1670 1680 1690
WLTTVKADLQ FSSAPAPDTL KESQAQRQKI SRCQVCVKYS
Length:1,690
Mass (Da):164,038
Last modified:September 22, 2009 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC55711CDF14A57DB
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
A0A2R8Y548A0A2R8Y548_HUMAN
Collagen alpha-4(IV) chain
COL4A4
296Annotation 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 conflicti1361 – 1363GPR → AIS in AAY24061 (PubMed:15815621).Curated3
Sequence conflicti1659 – 1660LQ → FE in BAA04214 (PubMed:8365481).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0316226I → T1 PublicationCorresponds to variant dbSNP:rs16823264EnsemblClinVar.1
Natural variantiVAR_031623116G → E in BFH. 1 Publication1
Natural variantiVAR_008148441 – 446Missing in APSAR. 6
Natural variantiVAR_022069482P → S2 PublicationsCorresponds to variant dbSNP:rs2229814EnsemblClinVar.1
Natural variantiVAR_008149545G → A2 PublicationsCorresponds to variant dbSNP:rs1800516EnsemblClinVar.1
Natural variantiVAR_008150570E → Q1 Publication1
Natural variantiVAR_055680594E → G. Corresponds to variant dbSNP:rs35998949EnsemblClinVar.1
Natural variantiVAR_055681670V → I. Corresponds to variant dbSNP:rs34236495EnsemblClinVar.1
Natural variantiVAR_055682759P → L. Corresponds to variant dbSNP:rs36121515EnsemblClinVar.1
Natural variantiVAR_001912897G → E in BFH. 1 PublicationCorresponds to variant dbSNP:rs121912860EnsemblClinVar.1
Natural variantiVAR_008151931A → T1 PublicationCorresponds to variant dbSNP:rs75875272EnsemblClinVar.1
Natural variantiVAR_031624960G → R in BFH. 2 PublicationsCorresponds to variant dbSNP:rs769783985EnsemblClinVar.1
Natural variantiVAR_031625999G → E in BFH. 1 PublicationCorresponds to variant dbSNP:rs13027659EnsemblClinVar.1
Natural variantiVAR_0081521004P → L2 PublicationsCorresponds to variant dbSNP:rs1800517EnsemblClinVar.1
Natural variantiVAR_0081531030G → V in APSAR. 1 Publication1
Natural variantiVAR_0316261132P → L in BFH. 1 Publication1
Natural variantiVAR_0019131201G → S in APSAR. 1 PublicationCorresponds to variant dbSNP:rs121912858EnsemblClinVar.1
Natural variantiVAR_0316271327V → M3 PublicationsCorresponds to variant dbSNP:rs2229813EnsemblClinVar.1
Natural variantiVAR_0081541402P → S1 Publication1
Natural variantiVAR_0316281403S → P3 PublicationsCorresponds to variant dbSNP:rs3752895EnsemblClinVar.1
Natural variantiVAR_0081551572P → L in APSAR. 1 PublicationCorresponds to variant dbSNP:rs121912863EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X81053 mRNA Translation: CAA56943.1
Y17397
, Y17398, Y17399, Y17400, Y17401, Y17402, Y17403, Y17404, Y17405, Y17406, Y17407, Y17408, Y17409, Y17410, Y17411, Y17412, Y17413, Y17427, Y17426, Y17414, Y17415, Y17416, Y17417, Y17418, Y17419, Y17420, Y17443, Y17442, Y17441, Y17440, Y17439, Y17438, Y17437, Y17436, Y17435, Y17434, Y17433, Y17432, Y17431, Y17430, Y17429, Y17428, Y17421, Y17422, Y17423, Y17424, Y17425 Genomic DNA Translation: CAA76763.1
AC073149 Genomic DNA Translation: AAY24061.1
AC079235 Genomic DNA Translation: AAY14670.1
AB008496 Genomic DNA Translation: BAA25065.1
D17391 mRNA Translation: BAA04214.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42828.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A55360 CGHU1B

NCBI Reference Sequences

More...
RefSeqi
NP_000083.3, NM_000092.4
XP_005246338.1, XM_005246281.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.591645

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000396625; ENSP00000379866; ENSG00000081052

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1286

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1286

UCSC genome browser

More...
UCSCi
uc061teu.1 human

Keywords - Coding sequence diversityi

Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X81053 mRNA Translation: CAA56943.1
Y17397
, Y17398, Y17399, Y17400, Y17401, Y17402, Y17403, Y17404, Y17405, Y17406, Y17407, Y17408, Y17409, Y17410, Y17411, Y17412, Y17413, Y17427, Y17426, Y17414, Y17415, Y17416, Y17417, Y17418, Y17419, Y17420, Y17443, Y17442, Y17441, Y17440, Y17439, Y17438, Y17437, Y17436, Y17435, Y17434, Y17433, Y17432, Y17431, Y17430, Y17429, Y17428, Y17421, Y17422, Y17423, Y17424, Y17425 Genomic DNA Translation: CAA76763.1
AC073149 Genomic DNA Translation: AAY24061.1
AC079235 Genomic DNA Translation: AAY14670.1
AB008496 Genomic DNA Translation: BAA25065.1
D17391 mRNA Translation: BAA04214.1
CCDSiCCDS42828.1
PIRiA55360 CGHU1B
RefSeqiNP_000083.3, NM_000092.4
XP_005246338.1, XM_005246281.3
UniGeneiHs.591645

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5NB1X-ray2.82A/B/C/D/E/F1461-1690[»]
ProteinModelPortaliP53420
SMRiP53420
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107683, 1 interactor
ComplexPortaliCPX-1725 Collagen type IV trimer variant 3
IntActiP53420, 1 interactor
STRINGi9606.ENSP00000379866

Chemistry databases

ChEMBLiCHEMBL3988505

PTM databases

iPTMnetiP53420
PhosphoSitePlusiP53420

Polymorphism and mutation databases

BioMutaiCOL4A4
DMDMi259016360

Proteomic databases

EPDiP53420
PaxDbiP53420
PeptideAtlasiP53420
PRIDEiP53420
ProteomicsDBi56583

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396625; ENSP00000379866; ENSG00000081052
GeneIDi1286
KEGGihsa:1286
UCSCiuc061teu.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1286
DisGeNETi1286
EuPathDBiHostDB:ENSG00000081052.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL4A4
GeneReviewsiCOL4A4

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0030014
HGNCiHGNC:2206 COL4A4
MalaCardsiCOL4A4
MIMi120131 gene
141200 phenotype
203780 phenotype
neXtProtiNX_P53420
OpenTargetsiENSG00000081052
Orphaneti88918 Autosomal dominant Alport syndrome
88919 Autosomal recessive Alport syndrome
97562 NON RARE IN EUROPE: Benign familial hematuria
PharmGKBiPA26721

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410YAVF LUCA
GeneTreeiENSGT00940000153991
HOGENOMiHOG000085652
HOVERGENiHBG004933
InParanoidiP53420
KOiK06237
OMAiCNVTYPG
OrthoDBiEOG091G0613
PhylomeDBiP53420
TreeFamiTF344135

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-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization
SIGNORiP53420

Miscellaneous databases

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

More...
ChiTaRSi
COL4A4 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
COL4A4

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

More...
GenomeRNAii
1286

Protein Ontology

More...
PROi
PR:P53420

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000081052 Expressed in 129 organ(s), highest expression level in metanephros
CleanExiHS_COL4A4
GenevisibleiP53420 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, 14 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

More...
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 nameiCO4A4_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: P53420
Secondary accession number(s): A8MTZ1
, Q53RW9, Q53S42, Q53WR1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: September 22, 2009
Last modified: December 5, 2018
This is version 193 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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