IRF8
entrez
3394
canonical
uniprot
Q02556
canonical
ensembl
ENSG00000140968
resolver
ensp
ENSP00000268638
resolver
ensp
ENSP00000455452
resolver
ensp
ENSP00000456395
resolver
ensp
ENSP00000456992
resolver
ensp
ENSP00000512953
resolver
ensp
ENSP00000529280
resolver
ensp
ENSP00000529281
resolver
ensp
ENSP00000625454
resolver
ensp
ENSP00000625455
resolver
ensp
ENSP00000625457
resolver
enst
ENST00000268638
resolver
enst
ENST00000562492
resolver
enst
ENST00000564803
resolver
enst
ENST00000569607
resolver
enst
ENST00000696887
resolver
enst
ENST00000859221
resolver
enst
ENST00000859222
resolver
enst
ENST00000955395
resolver
enst
ENST00000955396
resolver
enst
ENST00000955398
resolver
genesymbol
IRF8
resolver
genesymbol_syn
ICSBP1
resolver
hgnc
HGNC:5358
resolver
uniprot
A0AV82
resolver
uniprot
H3BPS5
resolver
uniprot
H3BRT4
resolver
uniprot_entry
H3BRT4_HUMAN
resolver
uniprot_entry
IRF8_HUMAN
resolver
uniprot_sec
A0AV82
resolver
uniprot_sec
H3BPS5
resolver
amino_acid_sequence
MCDRNGGRRLRQWLIEQIDSSMYPGLIWENEEKSMFRIPWKHAGKQDYNQEVDASIFKAWAVFKGKFKEGDKAEPATWKTRLRCALNKSPDFEEVTDRSQLDISEPYKVYRIVPEEEQKCKLGVATAGCVNEVTEMECGRSEIDELIKEPSVDDYMGMIKRSPSPPEACRSQLLPDWWAQQPSTGVPLVTGYTTYDAHHSAFSQMVISFYYGGKLVGQATTTCPEGCRLSLSQPGLPGTKLYGPEGLELVRFPPADAIPSERQRQVTRKLFGHLERGVLLHSSRQGVFVKRLCQGRVFCSGNAVVCKGRPNKLERDEVVQVFDTSQFFRELQQFYNSQGRLPDGRVVLCFGEEFPDMAPLRSKLILVQIEQLYVRQLAEEAGKSCGAGSVMQAPEEPPPDQVFRMFPDICASHQRSFFRENQQITV
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 32A (IMD32A) [MIM:614893]: An 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. {ECO:0000269|PubMed:21524210}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Immunodeficiency 32B (IMD32B) [MIM:226990]: An 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. {ECO:0000269|PubMed:21524210, ECO:0000269|PubMed:25122610}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) (PubMed:25122610). Can both act as a transcriptional activator or repressor (By similarity). Plays a negative regulatory role in cells of the immune system (By similarity). 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). Required for the development of plasmacytoid dendritic cells (pDCs), which produce most of the type I IFN in response to viral infection (By similarity). Positively regulates macroautophagy in dendritic cells (PubMed:29434592). Acts as a transcriptional repressor of osteoclast differentiation factors such as NFATC1 and EEIG1 (By similarity). {ECO:0000250|UniProtKB:P23611, ECO:0000269|PubMed:25122610, ECO:0000269|PubMed:29434592}.
uniprot
proteins
mass_dalton
48356
uniprot
proteins
mutagenesis
MUTAGEN 108; /note="K->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."; /evidence="ECO:0000269|PubMed:25122610"; MUTAGEN 108; /note="K->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."; /evidence="ECO:0000269|PubMed:25122610"; MUTAGEN 108; /note="K->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."; /evidence="ECO:0000269|PubMed:25122610
uniprot
proteins
post_translational_modification
PTM: 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). {ECO:0000250, ECO:0000269|PubMed:25122610}.; PTM: Sumoylated with SUMO3. Desumoylated by SENP1. {ECO:0000269|PubMed:25122610}.
uniprot
proteins
protein_family
IRF family
uniprot
proteins
pubmed
10991940
uniprot
proteins
pubmed
1460054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
21524210
uniprot
proteins
pubmed
23166356
uniprot
proteins
pubmed
25122610
uniprot
proteins
pubmed
29434592
uniprot
proteins
pubmed
33951726
uniprot
proteins
sequence_length
426
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23166356, ECO:0000269|PubMed:25122610}. Cytoplasm {ECO:0000269|PubMed:25122610}. Note=In resting macrophages, localizes in the cytoplasm. Translocated in the nucleus upon IFN-gamma induction. {ECO:0000269|PubMed:25122610}.
uniprot
proteins