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UniProtKB - O14896 (IRF6_HUMAN)

Protein

Interferon regulatory factor 6

Gene

IRF6

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

Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi7 – 115IRF tryptophan pentad repeatPROSITE-ProRule annotationAdd BLAST109

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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

Molecular functionDNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-877300 Interferon gamma signaling
R-HSA-909733 Interferon alpha/beta signaling

<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:
Interferon regulatory factor 6
Short name:
IRF-6
<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:IRF6
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000117595.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:6121 IRF6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607199 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O14896

<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

Cytoplasm, Nucleus

<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

Van der Woude syndrome 1 (VWS1)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
See also OMIM:119300
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_0149612A → V in VWS1. 2 PublicationsCorresponds to variant dbSNP:rs28942093EnsemblClinVar.1
Natural variantiVAR_0300466R → C in VWS1. 1 PublicationCorresponds to variant dbSNP:rs28942094EnsemblClinVar.1
Natural variantiVAR_03004716A → V in VWS1. 1 Publication1
Natural variantiVAR_01496218V → A in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01496318V → M in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01496439P → A in VWS1. 1 Publication1
Natural variantiVAR_03004945R → Q in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434229EnsemblClinVar.1
Natural variantiVAR_01496661A → G in VWS1. 1 Publication1
Natural variantiVAR_03005064T → I in VWS1. 1 Publication1
Natural variantiVAR_01496870G → R in VWS1; does not affect DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs776236749Ensembl.1
Natural variantiVAR_01496976P → S in VWS1; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs886039388EnsemblClinVar.1
Natural variantiVAR_03005184R → G in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01497388N → H in VWS1. 1 Publication1
Natural variantiVAR_01497590S → G in VWS1. 1 Publication1
Natural variantiVAR_01497698D → H in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_030052100T → A in VWS1. 1 Publication1
Natural variantiVAR_014977250R → Q in VWS1. 1 Publication1
Natural variantiVAR_030053251L → P in VWS1. 1 Publication1
Natural variantiVAR_014978273Q → R in VWS1. 1 Publication1
Natural variantiVAR_014980290 – 296FTSKLLD → L in VWS1. 1 Publication7
Natural variantiVAR_014981294L → P in VWS1. 1 Publication1
Natural variantiVAR_014982297V → I in VWS1. 1 Publication1
Natural variantiVAR_014983320K → E in VWS1. 1 Publication1
Natural variantiVAR_014984321V → M in VWS1. 1 Publication1
Natural variantiVAR_014985325G → E in VWS1. 1 Publication1
Natural variantiVAR_059080339R → I in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434231EnsemblClinVar.1
Natural variantiVAR_014986345L → P in VWS1. 1 Publication1
Natural variantiVAR_014987347C → F in VWS1. 1 Publication1
Natural variantiVAR_030054349E → V in VWS1. 1 Publication1
Natural variantiVAR_014989374C → W in VWS1. 1 Publication1
Natural variantiVAR_014990388K → E in VWS1. 1 Publication1
Natural variantiVAR_030055396P → S in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434230EnsemblClinVar.1
Natural variantiVAR_030056400R → W in VWS1. 1 PublicationCorresponds to variant dbSNP:rs28942095EnsemblClinVar.1
Popliteal pterygium syndrome (PPS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus.
See also OMIM:119500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01496560W → G in PPS; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01496766K → T in PPS. 1 Publication1
Natural variantiVAR_01497082Q → K in PPS. 1 Publication1
Natural variantiVAR_01497184R → C in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs121434226EnsemblClinVar.1
Natural variantiVAR_01497284R → H in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs121434227EnsemblClinVar.1
Natural variantiVAR_06447584R → L in PPS. 1 PublicationCorresponds to variant dbSNP:rs121434227EnsemblClinVar.1
Natural variantiVAR_01497489K → E in PPS; abrogates DNA binding. 2 Publications1
Natural variantiVAR_064476424S → L in PPS; significant decrease of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906968EnsemblClinVar.1
Natural variantiVAR_014991430D → N in PPS. 1 Publication1
Non-syndromic orofacial cleft 6 (OFC6)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
See also OMIM:608864

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		3664

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

More...GeneReviewsi		IRF6

MalaCards human disease database

More...MalaCardsi		IRF6
MIMi119300 phenotype
119500 phenotype
608864 phenotype

Open Targets

More...OpenTargetsi		ENSG00000117595

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

More...Orphaneti		1300 Autosomal dominant popliteal pterygium syndrome
141291 Cleft lip and alveolus
199306 Cleft lip/palate
199302 Isolated cleft lip
2227 NON RARE IN EUROPE: Hypodontia
99798 Oligodontia
888 Van der Woude syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29920

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IRF6

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001545601 – 467Interferon regulatory factor 6Add BLAST467

<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

Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.2 Publications

Keywords - PTMi

Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O14896

MaxQB - The MaxQuant DataBase

More...MaxQBi		O14896

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

More...PaxDbi		O14896

PeptideAtlas

More...PeptideAtlasi		O14896

PRoteomics IDEntifications database

More...PRIDEi		O14896

ProteomicsDB human proteome resource

More...ProteomicsDBi		48286

Consortium for Top Down Proteomics

More...TopDownProteomicsi		O14896-1 [O14896-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O14896

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

More...PhosphoSitePlusi		O14896

<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

Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000117595 Expressed in 170 organ(s), highest expression level in secondary oocyte

CleanEx database of gene expression profiles

More...CleanExi		HS_IRF6

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O14896 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O14896 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA063121
HPA076162

<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

Interacts with SERPINB5.1 Publication

<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
IRF8Q025563EBI-6115643,EBI-2866563

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109872, 7 interactors

Protein interaction database and analysis system

More...IntActi		O14896, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000355988

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O14896

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

More...SMRi		O14896

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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

<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 IRF family.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IFCV Eukaryota
ENOG410XRXT LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157451

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000037433

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG105715

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O14896

KEGG Orthology (KO)

More...KOi		K10154

Identification of Orthologs from Complete Genome Data

More...OMAi		PQHEEEN

Database of Orthologous Groups

More...OrthoDBi		EOG091G067P

Database for complete collections of gene phylogenies

More...PhylomeDBi		O14896

TreeFam database of animal gene trees

More...TreeFami		TF328512

Family and domain databases

Conserved Domains Database

More...CDDi		cd00103 IRF, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.10.10, 1 hit
2.60.200.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019817 Interferon_reg_fac_CS
IPR001346 Interferon_reg_fact_DNA-bd_dom
IPR019471 Interferon_reg_factor-3
IPR017855 SMAD-like_dom_sf
IPR008984 SMAD_FHA_dom_sf
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

The PANTHER Classification System

More...PANTHERi		PTHR11949 PTHR11949, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00605 IRF, 1 hit
PF10401 IRF-3, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00267 INTFRNREGFCT

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00348 IRF, 1 hit
SM01243 IRF-3, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46785 SSF46785, 1 hit
SSF49879 SSF49879, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00601 IRF_1, 1 hit
PS51507 IRF_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_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.

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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14896-1) [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
MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ 
        60         70         80         90        100
EEENTIFKAW AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT 
       110        120        130        140        150
KEVPMNPVKI YQVCDIPQPQ GSIINPGSTG SAPWDEKDND VDEEDEEDEL 
       160        170        180        190        200
DQSQHHVPIQ DTFPFLNING SPMAPASVGN CSVGNCSPEA VWPKTEPLEM 
       210        220        230        240        250
EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT MTVSNPQGCR 
       260        270        280        290        300
LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR 
       310        320        330        340        350
GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET 
       360        370        380        390        400
FLSDLIAHQK GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR 
       410        420        430        440        450
MIYEMFSGDF TRSFDSGSVR LQISTPDIKD NIVAQLKQLY RILQTQESWQ 
       460 
PMQPTPSMQL PPALPPQ
Length:467
Mass (Da):53,130
Last modified:January 1, 1998 - v1
<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:i7E28F5E0F5BA4053
GO
Isoform 2 (identifier: O14896-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.

Note: No experimental confirmation available.
Show »
Length:372
Mass (Da):41,930
Checksum:i2AF7C0699CE42FF0
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AJU4B1AJU4_HUMAN
Interferon regulatory factor 6
IRF6
276Annotation 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>
A0A2R8YHF3A0A2R8YHF3_HUMAN
Interferon regulatory factor 6
IRF6
179Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0149612A → V in VWS1. 2 PublicationsCorresponds to variant dbSNP:rs28942093EnsemblClinVar.1
Natural variantiVAR_0300466R → C in VWS1. 1 PublicationCorresponds to variant dbSNP:rs28942094EnsemblClinVar.1
Natural variantiVAR_03004716A → V in VWS1. 1 Publication1
Natural variantiVAR_01496218V → A in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01496318V → M in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_03004822L → P in VWS1 and PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs387906967EnsemblClinVar.1
Natural variantiVAR_01496439P → A in VWS1. 1 Publication1
Natural variantiVAR_03004945R → Q in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434229EnsemblClinVar.1
Natural variantiVAR_01496560W → G in PPS; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01496661A → G in VWS1. 1 Publication1
Natural variantiVAR_03005064T → I in VWS1. 1 Publication1
Natural variantiVAR_01496766K → T in PPS. 1 Publication1
Natural variantiVAR_01496870G → R in VWS1; does not affect DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs776236749Ensembl.1
Natural variantiVAR_01496976P → S in VWS1; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs886039388EnsemblClinVar.1
Natural variantiVAR_01497082Q → K in PPS. 1 Publication1
Natural variantiVAR_01497184R → C in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs121434226EnsemblClinVar.1
Natural variantiVAR_03005184R → G in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01497284R → H in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs121434227EnsemblClinVar.1
Natural variantiVAR_06447584R → L in PPS. 1 PublicationCorresponds to variant dbSNP:rs121434227EnsemblClinVar.1
Natural variantiVAR_01497388N → H in VWS1. 1 Publication1
Natural variantiVAR_01497489K → E in PPS; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01497590S → G in VWS1. 1 Publication1
Natural variantiVAR_01497698D → H in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_030052100T → A in VWS1. 1 Publication1
Natural variantiVAR_014977250R → Q in VWS1. 1 Publication1
Natural variantiVAR_030053251L → P in VWS1. 1 Publication1
Natural variantiVAR_014978273Q → R in VWS1. 1 Publication1
Natural variantiVAR_014979274V → I Common polymorphism; 3% in European-descended and 22% in Asian populations; responsible for 12% of the genetic contribution to cleft lip or palate; tripled the risk of recurrence in families that already had 1 affected child. 3 PublicationsCorresponds to variant dbSNP:rs2235371EnsemblClinVar.1
Natural variantiVAR_014980290 – 296FTSKLLD → L in VWS1. 1 Publication7
Natural variantiVAR_014981294L → P in VWS1. 1 Publication1
Natural variantiVAR_014982297V → I in VWS1. 1 Publication1
Natural variantiVAR_014983320K → E in VWS1. 1 Publication1
Natural variantiVAR_014984321V → M in VWS1. 1 Publication1
Natural variantiVAR_014985325G → E in VWS1. 1 Publication1
Natural variantiVAR_059080339R → I in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434231EnsemblClinVar.1
Natural variantiVAR_014986345L → P in VWS1. 1 Publication1
Natural variantiVAR_014987347C → F in VWS1. 1 Publication1
Natural variantiVAR_030054349E → V in VWS1. 1 Publication1
Natural variantiVAR_014988369F → S in VWS1 and OFC6. 2 Publications1
Natural variantiVAR_014989374C → W in VWS1. 1 Publication1
Natural variantiVAR_014990388K → E in VWS1. 1 Publication1
Natural variantiVAR_030055396P → S in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434230EnsemblClinVar.1
Natural variantiVAR_030056400R → W in VWS1. 1 PublicationCorresponds to variant dbSNP:rs28942095EnsemblClinVar.1
Natural variantiVAR_064476424S → L in PPS; significant decrease of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906968EnsemblClinVar.1
Natural variantiVAR_014991430D → N in PPS. 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_0464351 – 95Missing in isoform 2. 1 PublicationAdd BLAST95

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
AF027292 mRNA Translation: AAB84111.1
JF346417 Genomic DNA Translation: AEL89176.1
AK296960 mRNA Translation: BAG59504.1
AL022398 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93438.1
CH471100 Genomic DNA Translation: EAW93439.1
BC014852 mRNA Translation: AAH14852.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1492.1 [O14896-1]
CCDS55681.1 [O14896-2]

NCBI Reference Sequences

More...RefSeqi		NP_001193625.1, NM_001206696.1 [O14896-2]
NP_006138.1, NM_006147.3 [O14896-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.591415

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000367021; ENSP00000355988; ENSG00000117595 [O14896-1]
ENST00000542854; ENSP00000440532; ENSG00000117595 [O14896-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3664

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3664

UCSC genome browser

More...UCSCi		uc001hhq.3 human [O14896-1]

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
AF027292 mRNA Translation: AAB84111.1
JF346417 Genomic DNA Translation: AEL89176.1
AK296960 mRNA Translation: BAG59504.1
AL022398 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93438.1
CH471100 Genomic DNA Translation: EAW93439.1
BC014852 mRNA Translation: AAH14852.1
CCDSiCCDS1492.1 [O14896-1]
CCDS55681.1 [O14896-2]
RefSeqiNP_001193625.1, NM_001206696.1 [O14896-2]
NP_006138.1, NM_006147.3 [O14896-1]
UniGeneiHs.591415

3D structure databases

ProteinModelPortaliO14896
SMRiO14896
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109872, 7 interactors
IntActiO14896, 3 interactors
STRINGi9606.ENSP00000355988

PTM databases

iPTMnetiO14896
PhosphoSitePlusiO14896

Polymorphism and mutation databases

BioMutaiIRF6

Proteomic databases

EPDiO14896
MaxQBiO14896
PaxDbiO14896
PeptideAtlasiO14896
PRIDEiO14896
ProteomicsDBi48286
TopDownProteomicsiO14896-1 [O14896-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367021; ENSP00000355988; ENSG00000117595 [O14896-1]
ENST00000542854; ENSP00000440532; ENSG00000117595 [O14896-2]
GeneIDi3664
KEGGihsa:3664
UCSCiuc001hhq.3 human [O14896-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3664
DisGeNETi3664
EuPathDBiHostDB:ENSG00000117595.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		IRF6
GeneReviewsiIRF6
HGNCiHGNC:6121 IRF6
HPAiHPA063121
HPA076162
MalaCardsiIRF6
MIMi119300 phenotype
119500 phenotype
607199 gene
608864 phenotype
neXtProtiNX_O14896
OpenTargetsiENSG00000117595
Orphaneti1300 Autosomal dominant popliteal pterygium syndrome
141291 Cleft lip and alveolus
199306 Cleft lip/palate
199302 Isolated cleft lip
2227 NON RARE IN EUROPE: Hypodontia
99798 Oligodontia
888 Van der Woude syndrome
PharmGKBiPA29920

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IFCV Eukaryota
ENOG410XRXT LUCA
GeneTreeiENSGT00940000157451
HOGENOMiHOG000037433
HOVERGENiHBG105715
InParanoidiO14896
KOiK10154
OMAiPQHEEEN
OrthoDBiEOG091G067P
PhylomeDBiO14896
TreeFamiTF328512

Enzyme and pathway databases

ReactomeiR-HSA-877300 Interferon gamma signaling
R-HSA-909733 Interferon alpha/beta signaling

Miscellaneous databases

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

More...ChiTaRSi		IRF6 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		IRF6

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

More...GenomeRNAii		3664

Protein Ontology

More...PROi		PR:O14896

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000117595 Expressed in 170 organ(s), highest expression level in secondary oocyte
CleanExiHS_IRF6
ExpressionAtlasiO14896 baseline and differential
GenevisibleiO14896 HS

Family and domain databases

CDDicd00103 IRF, 1 hit
Gene3Di1.10.10.10, 1 hit
2.60.200.10, 1 hit
InterProiView protein in InterPro
IPR019817 Interferon_reg_fac_CS
IPR001346 Interferon_reg_fact_DNA-bd_dom
IPR019471 Interferon_reg_factor-3
IPR017855 SMAD-like_dom_sf
IPR008984 SMAD_FHA_dom_sf
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR11949 PTHR11949, 1 hit
PfamiView protein in Pfam
PF00605 IRF, 1 hit
PF10401 IRF-3, 1 hit
PRINTSiPR00267 INTFRNREGFCT
SMARTiView protein in SMART
SM00348 IRF, 1 hit
SM01243 IRF-3, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF49879 SSF49879, 1 hit
PROSITEiView protein in PROSITE
PS00601 IRF_1, 1 hit
PS51507 IRF_2, 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 nameiIRF6_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: O14896
Secondary accession number(s): B4DLE2
, D3DT90, F5GWX8, G0ZTL0
<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 15, 1998
Last sequence update: January 1, 1998
Last modified: December 5, 2018
This is version 177 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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