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UniProtKB - Q02556 (IRF8_HUMAN)

Entry version 171 (13 Feb 2019)
Sequence version 2 (15 Jul 1999)
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Protein

Interferon regulatory factor 8

Gene

IRF8

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

Plays a role as a transcriptional activator or repressor (PubMed:25122610). Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)). Plays a negative regulatory role in cells of the immune system. Involved in CD8+ dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes (By similarity). Positively regulates macroautophagy in dendritic cells (PubMed:29434592).By similarity2 Publications

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 – 114IRF tryptophan pentad repeatPROSITE-ProRule annotationAdd BLAST108

<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 functionActivator, DNA-binding, Repressor
Biological processAutophagy, 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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q02556

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q02556

<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 8
Short name:
IRF-8
Alternative name(s):
Interferon consensus sequence-binding protein
Short name:
H-ICSBP
Short name:
ICSBP
<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:IRF8
Synonyms:ICSBP1
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000140968.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:5358 IRF8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601565 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q02556

<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

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

Immunodeficiency 32A (IMD32A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn immunologic disorder characterized by abnormal peripheral blood myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic cells, resulting in selective susceptibility to mycobacterial infections.
See also OMIM:614893
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_07008480T → A in IMD32A; impairs transcriptional activity by disrupting the interaction between IRF8 and DNA. 1 PublicationCorresponds to variant dbSNP:rs397514711EnsemblClinVar.1
Immunodeficiency 32B (IMD32B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive primary immunodeficiency characterized by monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe opportunistic infections, including disseminated BCG infection and oral candidiasis.
See also OMIM:226990
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070085108K → E in IMD32B; in resting macrophages, no effect on cytoplasmic subcellular localization; loss of nuclear subcellular localization upon IFN-gamma induction; decreased protein abundance; increased proteasome-dependent degradation; increased ubiquitination and sumoylation; loss of transcriptional repressor activity; loss of IRF1-dependent transcriptional repressor activity; loss of IRF1-dependent transcriptional activator activity; impairs transcriptional activity by disrupting the interaction between IRF8 and DNA. 2 PublicationsCorresponds to variant dbSNP:rs397514710EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi108K → H in resting macrophages, no effect on cytoplasmic subcellular localization. Decreased nuclear subcellular localization upon IFN-gamma induction. Partial loss of IRF1-dependent transcriptional activator activity. 1 Publication1
Mutagenesisi108K → Q in resting macrophages, no effect on cytoplasmic subcellular localization. Loss of nuclear subcellular localization upon IFN-gamma induction. Loss of IRF1-dependent transcriptional activator activity. 1 Publication1
Mutagenesisi108K → R in resting macrophages, no effect on cytoplasmic subcellular localization. No effect on nuclear subcellular localization upon IFN-gamma induction. No effect on transcriptional activator activity. No effect on IRF1-dependent transcriptional activator activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		3394

MalaCards human disease database

More...MalaCardsi		IRF8
MIMi226990 phenotype
614893 phenotype

Open Targets

More...OpenTargetsi		ENSG00000140968

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

More...Orphaneti		319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29606

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IRF8

Domain mapping of disease mutations (DMDM)

More...DMDMi		6016308

<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_00001545641 – 426Interferon regulatory factor 8Add BLAST426

<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

Ubiquitinated (PubMed:25122610). Ubiquitination by TRIM21 in macrophages, a process that is strongly increased upon interferon gamma stimulation, leds to the enhanced transcriptional activity of target cytokine genes (By similarity). Ubiquitination leads to its degradation by the proteasome (PubMed:25122610).By similarity1 Publication
Sumoylated with SUMO3. Desumoylated by SENP1.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q02556

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q02556

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

More...PaxDbi		Q02556

PeptideAtlas

More...PeptideAtlasi		Q02556

PRoteomics IDEntifications database

More...PRIDEi		Q02556

ProteomicsDB human proteome resource

More...ProteomicsDBi		58110

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q02556

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

More...PhosphoSitePlusi		Q02556

<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

Predominantly expressed in lymphoid tissues.2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By IFNG/IFN-gamma. Negatively regulated by microRNA-155 (miR155).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000140968 Expressed in 213 organ(s), highest expression level in tonsil

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q02556 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q02556 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB013480
HPA002267
HPA002531

<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 (via C-terminus) with TRIM21 (via C-terminus). Interacts with the BATF-JUNB heterodimer. Interacts with BATF (via bZIP domain); the interaction is direct (By similarity). Interacts with COPS2.By similarity1 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
IRF6O148963EBI-2866563,EBI-6115643

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109621, 23 interactors

Protein interaction database and analysis system

More...IntActi		Q02556, 11 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000268638

<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		Q02556

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

More...SMRi		Q02556

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		ENOG410IED8 Eukaryota
ENOG410XNYR LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158140

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000010107

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG003072

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q02556

KEGG Orthology (KO)

More...KOi		K10155

Identification of Orthologs from Complete Genome Data

More...OMAi		EQIDSNM

Database of Orthologous Groups

More...OrthoDBi		648909at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q02556

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>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.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

Q02556-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MCDRNGGRRL RQWLIEQIDS SMYPGLIWEN EEKSMFRIPW KHAGKQDYNQ 
        60         70         80         90        100
EVDASIFKAW AVFKGKFKEG DKAEPATWKT RLRCALNKSP DFEEVTDRSQ 
       110        120        130        140        150
LDISEPYKVY RIVPEEEQKC KLGVATAGCV NEVTEMECGR SEIDELIKEP 
       160        170        180        190        200
SVDDYMGMIK RSPSPPEACR SQLLPDWWAQ QPSTGVPLVT GYTTYDAHHS 
       210        220        230        240        250
AFSQMVISFY YGGKLVGQAT TTCPEGCRLS LSQPGLPGTK LYGPEGLELV 
       260        270        280        290        300
RFPPADAIPS ERQRQVTRKL FGHLERGVLL HSSRQGVFVK RLCQGRVFCS 
       310        320        330        340        350
GNAVVCKGRP NKLERDEVVQ VFDTSQFFRE LQQFYNSQGR LPDGRVVLCF 
       360        370        380        390        400
GEEFPDMAPL RSKLILVQIE QLYVRQLAEE AGKSCGAGSV MQAPEEPPPD 
       410        420 
QVFRMFPDIC ASHQRSFFRE NQQITV
Length:426
Mass (Da):48,356
Last modified:July 15, 1999 - v2
<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:i1535D1B7C83E0355
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BPS5H3BPS5_HUMAN
Interferon regulatory factor 8
IRF8
222Annotation 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>
H3BT31H3BT31_HUMAN
Interferon regulatory factor 8
IRF8
328Annotation 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>
H3BRT4H3BRT4_HUMAN
Interferon regulatory factor 8
IRF8
220Annotation 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>
H3BVC2H3BVC2_HUMAN
Interferon regulatory factor 8
IRF8
126Annotation 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>
H3BQH6H3BQH6_HUMAN
Interferon regulatory factor 8
IRF8
159Annotation 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>
H3BNX4H3BNX4_HUMAN
Interferon regulatory factor 8
IRF8
152Annotation 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>
H3BQK3H3BQK3_HUMAN
Interferon regulatory factor 8
IRF8
47Annotation 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>
H3BQF9H3BQF9_HUMAN
Interferon regulatory factor 8
IRF8
14Annotation 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_07008480T → A in IMD32A; impairs transcriptional activity by disrupting the interaction between IRF8 and DNA. 1 PublicationCorresponds to variant dbSNP:rs397514711EnsemblClinVar.1
Natural variantiVAR_03649081R → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_070085108K → E in IMD32B; in resting macrophages, no effect on cytoplasmic subcellular localization; loss of nuclear subcellular localization upon IFN-gamma induction; decreased protein abundance; increased proteasome-dependent degradation; increased ubiquitination and sumoylation; loss of transcriptional repressor activity; loss of IRF1-dependent transcriptional repressor activity; loss of IRF1-dependent transcriptional activator activity; impairs transcriptional activity by disrupting the interaction between IRF8 and DNA. 2 PublicationsCorresponds to variant dbSNP:rs397514710EnsemblClinVar.1
Natural variantiVAR_036491197A → T in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1372132995Ensembl.1

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
M91196 mRNA Translation: AAB63813.1
BC126247 mRNA Translation: AAI26248.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10956.1

Protein sequence database of the Protein Information Resource

More...PIRi		A45064

NCBI Reference Sequences

More...RefSeqi		NP_002154.1, NM_002163.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.137427

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000268638; ENSP00000268638; ENSG00000140968

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3394

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3394

UCSC genome browser

More...UCSCi		uc002fjh.4 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
M91196 mRNA Translation: AAB63813.1
BC126247 mRNA Translation: AAI26248.1
CCDSiCCDS10956.1
PIRiA45064
RefSeqiNP_002154.1, NM_002163.2
UniGeneiHs.137427

3D structure databases

ProteinModelPortaliQ02556
SMRiQ02556
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109621, 23 interactors
IntActiQ02556, 11 interactors
STRINGi9606.ENSP00000268638

PTM databases

iPTMnetiQ02556
PhosphoSitePlusiQ02556

Polymorphism and mutation databases

BioMutaiIRF8
DMDMi6016308

Proteomic databases

jPOSTiQ02556
MaxQBiQ02556
PaxDbiQ02556
PeptideAtlasiQ02556
PRIDEiQ02556
ProteomicsDBi58110

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268638; ENSP00000268638; ENSG00000140968
GeneIDi3394
KEGGihsa:3394
UCSCiuc002fjh.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3394
DisGeNETi3394
EuPathDBiHostDB:ENSG00000140968.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		IRF8
HGNCiHGNC:5358 IRF8
HPAiCAB013480
HPA002267
HPA002531
MalaCardsiIRF8
MIMi226990 phenotype
601565 gene
614893 phenotype
neXtProtiNX_Q02556
OpenTargetsiENSG00000140968
Orphaneti319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
PharmGKBiPA29606

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IED8 Eukaryota
ENOG410XNYR LUCA
GeneTreeiENSGT00940000158140
HOGENOMiHOG000010107
HOVERGENiHBG003072
InParanoidiQ02556
KOiK10155
OMAiEQIDSNM
OrthoDBi648909at2759
PhylomeDBiQ02556
TreeFamiTF328512

Enzyme and pathway databases

ReactomeiR-HSA-877300 Interferon gamma signaling
R-HSA-909733 Interferon alpha/beta signaling
SignaLinkiQ02556
SIGNORiQ02556

Miscellaneous databases

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

More...ChiTaRSi		IRF8 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		IRF8

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

More...GenomeRNAii		3394

Protein Ontology

More...PROi		PR:Q02556

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000140968 Expressed in 213 organ(s), highest expression level in tonsil
ExpressionAtlasiQ02556 baseline and differential
GenevisibleiQ02556 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 nameiIRF8_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: Q02556
Secondary accession number(s): A0AV82
<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 1, 1993
Last sequence update: July 15, 1999
Last modified: February 13, 2019
This is version 171 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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