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UniProtKB - Q14031 (CO4A6_HUMAN)

Entry version 200 (11 Dec 2019)
Sequence version 3 (17 Oct 2006)
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Protein

Collagen alpha-6(IV) chain

Gene

COL4A6

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

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

Biological processCell adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1442490 Collagen degradation
R-HSA-1474244 Extracellular matrix organization
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-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-8948216 Collagen chain trimerization

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q14031

<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-6(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:COL4A6
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000197565.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:2208 COL4A6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		303631 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14031

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

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

Keywords - Cellular componenti

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

Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).
Deafness, X-linked, 6 (DFNX6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070936591G → S in DFNX6. 1 PublicationCorresponds to variant dbSNP:rs779748859Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		1288

MalaCards human disease database

More...MalaCardsi		COL4A6
MIMi300914 phenotype

Open Targets

More...OpenTargetsi		ENSG00000197565

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

More...Orphaneti		1018 X-linked Alport syndrome-diffuse leiomyomatosis
90625 X-linked non-syndromic sensorineural deafness type DFN

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26723

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q14031 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2364188

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		COL4A6

Domain mapping of disease mutations (DMDM)

More...DMDMi		116241307

<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 – 22Sequence analysisAdd BLAST22
<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_000000585323 – 1691Collagen alpha-6(IV) chainAdd BLAST1669

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>Glycosylationi127N-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 bondi1482 ↔ 1571Or C-1482 with C-1568PROSITE-ProRule annotation
Disulfide bondi1515 ↔ 1568Or C-1515 with C-1571PROSITE-ProRule annotation
Disulfide bondi1527 ↔ 1533PROSITE-ProRule annotation
Disulfide bondi1590 ↔ 1687Or C-1590 with C-1684PROSITE-ProRule annotation
Disulfide bondi1624 ↔ 1684Or C-1624 with C-1687PROSITE-ProRule annotation
Disulfide bondi1636 ↔ 1643PROSITE-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

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q14031

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14031

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q14031

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

More...PaxDbi		Q14031

PeptideAtlas

More...PeptideAtlasi		Q14031

PRoteomics IDEntifications database

More...PRIDEi		Q14031

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59800 [Q14031-1]
59801 [Q14031-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14031

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

More...PhosphoSitePlusi		Q14031

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000197565 Expressed in 152 organ(s), highest expression level in esophagus

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q14031 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14031 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA065393

<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.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107685, 11 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1724 Collagen type IV trimer variant 2

Protein interaction database and analysis system

More...IntActi		Q14031, 7 interactors

Molecular INTeraction database

More...MINTi		Q14031

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000378340

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14031 protein

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

3D structure databases

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

More...SMRi		Q14031

Database of comparative protein structure models

More...ModBasei		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>Domaini1467 – 1691Collagen 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>Regioni23 – 467S domainAdd BLAST24
Regioni47 – 1463Triple-helical regionAdd BLAST1417

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>Motifi515 – 517Cell attachment siteSequence analysis3
Motifi560 – 562Cell attachment siteSequence analysis3
Motifi986 – 988Cell 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

More...eggNOGi		KOG3544 Eukaryota
ENOG410YAVF LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153991

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14031

KEGG Orthology (KO)

More...KOi		K06237

Database of Orthologous Groups

More...OrthoDBi		1010560at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14031

TreeFam database of animal gene trees

More...TreeFami		TF344135

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, 19 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q14031-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MLINKLWLLL VTLCLTEELA AAGEKSYGKP CGGQDCSGSC QCFPEKGARG 
        60         70         80         90        100
RPGPIGIQGP TGPQGFTGST GLSGLKGERG FPGLLGPYGP KGDKGPMGVP 
       110        120        130        140        150
GFLGINGIPG HPGQPGPRGP PGLDGCNGTQ GAVGFPGPDG YPGLLGPPGL 
       160        170        180        190        200
PGQKGSKGDP VLAPGSFKGM KGDPGLPGLD GITGPQGAPG FPGAVGPAGP 
       210        220        230        240        250
PGLQGPPGPP GPLGPDGNMG LGFQGEKGVK GDVGLPGPAG PPPSTGELEF 
       260        270        280        290        300
MGFPKGKKGS KGEPGPKGFP GISGPPGFPG LGTTGEKGEK GEKGIPGLPG 
       310        320        330        340        350
PRGPMGSEGV QGPPGQQGKK GTLGFPGLNG FQGIEGQKGD IGLPGPDVFI 
       360        370        380        390        400
DIDGAVISGN PGDPGVPGLP GLKGDEGIQG LRGPSGVPGL PALSGVPGAL 
       410        420        430        440        450
GPQGFPGLKG DQGNPGRTTI GAAGLPGRDG LPGPPGPPGP PSPEFETETL 
       460        470        480        490        500
HNKESGFPGL RGEQGPKGNL GLKGIKGDSG FCACDGGVPN TGPPGEPGPP 
       510        520        530        540        550
GPWGLIGLPG LKGARGDRGS GGAQGPAGAP GLVGPLGPSG PKGKKGEPIL 
       560        570        580        590        600
STIQGMPGDR GDSGSQGFRG VIGEPGKDGV PGLPGLPGLP GDGGQGFPGE 
       610        620        630        640        650
KGLPGLPGEK GHPGPPGLPG NGLPGLPGPR GLPGDKGKDG LPGQQGLPGS 
       660        670        680        690        700
KGITLPCIIP GSYGPSGFPG TPGFPGPKGS RGLPGTPGQP GSSGSKGEPG 
       710        720        730        740        750
SPGLVHLPEL PGFPGPRGEK GLPGFPGLPG KDGLPGMIGS PGLPGSKGAT 
       760        770        780        790        800
GDIFGAENGA PGEQGLQGLT GHKGFLGDSG LPGLKGVHGK PGLLGPKGER 
       810        820        830        840        850
GSPGTPGQVG QPGTPGSSGP YGIKGKSGLP GAPGFPGISG HPGKKGTRGK 
       860        870        880        890        900
KGPPGSIVKK GLPGLKGLPG NPGLVGLKGS PGSPGVAGLP ALSGPKGEKG 
       910        920        930        940        950
SVGFVGFPGI PGLPGIPGTR GLKGIPGSTG KMGPSGRAGT PGEKGDRGNP 
       960        970        980        990       1000
GPVGIPSPRR PMSNLWLKGD KGSQGSAGSN GFPGPRGDKG EAGRPGPPGL 
      1010       1020       1030       1040       1050
PGAPGLPGII KGVSGKPGPP GFMGIRGLPG LKGSSGITGF PGMPGESGSQ 
      1060       1070       1080       1090       1100
GIRGSPGLPG ASGLPGLKGD NGQTVEISGS PGPKGQPGES GFKGTKGRDG 
      1110       1120       1130       1140       1150
LIGNIGFPGN KGEDGKVGVS GDVGLPGAPG FPGVAGMRGE PGLPGSSGHQ 
      1160       1170       1180       1190       1200
GAIGPLGSPG LIGPKGFPGF PGLHGLNGLP GTKGTHGTPG PSITGVPGPA 
      1210       1220       1230       1240       1250
GLPGPKGEKG YPGIGIGAPG KPGLRGQKGD RGFPGLQGPA GLPGAPGISL 
      1260       1270       1280       1290       1300
PSLIAGQPGD PGRPGLDGER GRPGPAGPPG PPGPSSNQGD TGDPGFPGIP 
      1310       1320       1330       1340       1350
GPKGPKGDQG IPGFSGLPGE LGLKGMRGEP GFMGTPGKVG PPGDPGFPGM 
      1360       1370       1380       1390       1400
KGKAGPRGSS GLQGDPGQTP TAEAVQVPPG PLGLPGIDGI PGLTGDPGAQ 
      1410       1420       1430       1440       1450
GPVGLQGSKG LPGIPGKDGP SGLPGPPGAL GDPGLPGLQG PPGFEGAPGQ 
      1460       1470       1480       1490       1500
QGPFGMPGMP GQSMRVGYTL VKHSQSEQVP PCPIGMSQLW VGYSLLFVEG 
      1510       1520       1530       1540       1550
QEKAHNQDLG FAGSCLPRFS TMPFIYCNIN EVCHYARRND KSYWLSTTAP 
      1560       1570       1580       1590       1600
IPMMPVSQTQ IPQYISRCSV CEAPSQAIAV HSQDITIPQC PLGWRSLWIG 
      1610       1620       1630       1640       1650
YSFLMHTAAG AEGGGQSLVS PGSCLEDFRA TPFIECSGAR GTCHYFANKY 
      1660       1670       1680       1690 
SFWLTTVEER QQFGELPVSE TLKAGQLHTR VSRCQVCMKS L
Length:1,691
Mass (Da):163,807
Last modified:October 17, 2006 - 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:i9313294D4CE63067
GO
Isoform B (identifier: Q14031-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-5: MLINK → MHPG

Show »
Length:1,690
Mass (Da):163,629
Checksum:iA311225C5FF212B9
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MXH5A8MXH5_HUMAN
Collagen alpha-6(IV) chain
COL4A6
1,707Annotation score:

Annotation score:2 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>
A0A087WZY5A0A087WZY5_HUMAN
Collagen alpha-6(IV) chain
COL4A6
1,666Annotation 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>
F5H3Q5F5H3Q5_HUMAN
Collagen alpha-6(IV) chain
COL4A6
1,633Annotation 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>
F5H851F5H851_HUMAN
Collagen alpha-6(IV) chain
COL4A6
1,678Annotation 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 conflicti170M → I in AAA19569 (PubMed:8175748).Curated1
Sequence conflicti170M → I in AAA16338 (Ref. 5) Curated1
Sequence conflicti272 – 273IS → LR in AAB19038 (PubMed:8661006).Curated2
Sequence conflicti272 – 273IS → LR in AAB19039 (PubMed:8661006).Curated2
Sequence conflicti366V → D in AAB19038 (PubMed:8661006).Curated1
Sequence conflicti366V → D in AAB19039 (PubMed:8661006).Curated1
Sequence conflicti518R → Q in AAB19038 (PubMed:8661006).Curated1
Sequence conflicti518R → Q in AAB19039 (PubMed:8661006).Curated1
Sequence conflicti917P → S in BAA04809 (PubMed:8125972).Curated1
Sequence conflicti917P → S in AAB19038 (PubMed:8661006).Curated1
Sequence conflicti917P → S in AAB19039 (PubMed:8661006).Curated1
Sequence conflicti1302 – 1313Missing in BAA04809 (PubMed:8125972).CuratedAdd BLAST12
Sequence conflicti1356P → A in BAA04809 (PubMed:8125972).Curated1
Sequence conflicti1365D → H in AAB19038 (PubMed:8661006).Curated1
Sequence conflicti1365D → H in AAB19039 (PubMed:8661006).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015216455S → A1 PublicationCorresponds to variant dbSNP:rs1042065Ensembl.1
Natural variantiVAR_059242455S → P. Corresponds to variant dbSNP:rs1042065Ensembl.1
Natural variantiVAR_070936591G → S in DFNX6. 1 PublicationCorresponds to variant dbSNP:rs779748859Ensembl.1
Natural variantiVAR_0152171110N → K1 PublicationCorresponds to variant dbSNP:rs1042067Ensembl.1
Natural variantiVAR_0329721126P → S. Corresponds to variant dbSNP:rs35179844Ensembl.1
Natural variantiVAR_0357481130G → E in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0329731162I → V. Corresponds to variant dbSNP:rs34466065Ensembl.1
Natural variantiVAR_0329741362L → P. Corresponds to variant dbSNP:rs35363062Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0011741 – 5MLINK → MHPG in isoform B. 1 Publication5

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
D21337 mRNA Translation: BAA04809.1
U04845 mRNA Translation: AAA19569.2
U47004 U47003 Genomic DNA Translation: AAB19038.1
U47004 U47003 Genomic DNA Translation: AAB19039.1
AL136080 Genomic DNA No translation available.
AL034369 Genomic DNA No translation available.
AL109943 Genomic DNA No translation available.
AL031177 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02688.1
L22763 mRNA Translation: AAA16338.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14541.1 [Q14031-1]
CCDS14542.1 [Q14031-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A54122 CGHU6B

NCBI Reference Sequences

More...RefSeqi		NP_001274689.1, NM_001287760.1
NP_001838.2, NM_001847.3 [Q14031-1]
NP_378667.1, NM_033641.3 [Q14031-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000334504; ENSP00000334733; ENSG00000197565 [Q14031-2]
ENST00000372216; ENSP00000361290; ENSG00000197565 [Q14031-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1288

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1288

UCSC genome browser

More...UCSCi		uc004env.5 human [Q14031-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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
D21337 mRNA Translation: BAA04809.1
U04845 mRNA Translation: AAA19569.2
U47004 U47003 Genomic DNA Translation: AAB19038.1
U47004 U47003 Genomic DNA Translation: AAB19039.1
AL136080 Genomic DNA No translation available.
AL034369 Genomic DNA No translation available.
AL109943 Genomic DNA No translation available.
AL031177 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02688.1
L22763 mRNA Translation: AAA16338.1
CCDSiCCDS14541.1 [Q14031-1]
CCDS14542.1 [Q14031-2]
PIRiA54122 CGHU6B
RefSeqiNP_001274689.1, NM_001287760.1
NP_001838.2, NM_001847.3 [Q14031-1]
NP_378667.1, NM_033641.3 [Q14031-2]

3D structure databases

SMRiQ14031
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107685, 11 interactors
ComplexPortaliCPX-1724 Collagen type IV trimer variant 2
IntActiQ14031, 7 interactors
MINTiQ14031
STRINGi9606.ENSP00000378340

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

iPTMnetiQ14031
PhosphoSitePlusiQ14031

Polymorphism and mutation databases

BioMutaiCOL4A6
DMDMi116241307

Proteomic databases

jPOSTiQ14031
MassIVEiQ14031
MaxQBiQ14031
PaxDbiQ14031
PeptideAtlasiQ14031
PRIDEiQ14031
ProteomicsDBi59800 [Q14031-1]
59801 [Q14031-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		1288

Genome annotation databases

EnsembliENST00000334504; ENSP00000334733; ENSG00000197565 [Q14031-2]
ENST00000372216; ENSP00000361290; ENSG00000197565 [Q14031-1]
GeneIDi1288
KEGGihsa:1288
UCSCiuc004env.5 human [Q14031-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1288
DisGeNETi1288
EuPathDBiHostDB:ENSG00000197565.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		COL4A6
HGNCiHGNC:2208 COL4A6
HPAiHPA065393
MalaCardsiCOL4A6
MIMi300914 phenotype
303631 gene
neXtProtiNX_Q14031
OpenTargetsiENSG00000197565
Orphaneti1018 X-linked Alport syndrome-diffuse leiomyomatosis
90625 X-linked non-syndromic sensorineural deafness type DFN
PharmGKBiPA26723

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410YAVF LUCA
GeneTreeiENSGT00940000153991
InParanoidiQ14031
KOiK06237
OrthoDBi1010560at2759
PhylomeDBiQ14031
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-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-8948216 Collagen chain trimerization
SIGNORiQ14031

Miscellaneous databases

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

More...ChiTaRSi		COL4A6 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		COL4A6

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

More...GenomeRNAii		1288
PharosiQ14031 Tbio

Protein Ontology

More...PROi		PR:Q14031
RNActiQ14031 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000197565 Expressed in 152 organ(s), highest expression level in esophagus
ExpressionAtlasiQ14031 baseline and differential
GenevisibleiQ14031 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, 19 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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCO4A6_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: Q14031
Secondary accession number(s): Q12823
, Q14053, Q5JYH6, Q5JYH8, Q9NQM5, Q9NTX3, Q9UJ76, Q9UMG6, Q9Y4L4
<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: November 1, 1997
Last sequence update: October 17, 2006
Last modified: December 11, 2019
This is version 200 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

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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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