IRF9
entrez
10379
canonical
uniprot
Q00978
canonical
ensembl
ENSG00000213928
resolver
ensembl
ENSG00000285048
resolver
ensp
ENSP00000380073
resolver
ensp
ENSP00000454095
resolver
ensp
ENSP00000494792
resolver
ensp
ENSP00000514071
resolver
ensp
ENSP00000514112
resolver
ensp
ENSP00000514183
resolver
ensp
ENSP00000577789
resolver
enst
ENST00000396864
resolver
enst
ENST00000560275
resolver
enst
ENST00000646071
resolver
enst
ENST00000698995
resolver
enst
ENST00000699071
resolver
enst
ENST00000699178
resolver
enst
ENST00000907730
resolver
genesymbol
IRF9
resolver
genesymbol_syn
ISGF3G
resolver
hgnc
HGNC:6131
resolver
uniprot
A0A8V8TMJ8
resolver
uniprot
A0A8V8TP83
resolver
uniprot
D3DS61
resolver
uniprot
H0YNP4
resolver
uniprot_entry
A0A8V8TMJ8_HUMAN
resolver
uniprot_entry
A0A8V8TP83_HUMAN
resolver
uniprot_entry
H0YNP4_HUMAN
resolver
uniprot_entry
IRF9_HUMAN
resolver
uniprot_sec
D3DS61
resolver
amino_acid_sequence
MASGRARCTRKLRNWVVEQVESGQFPGVCWDDTAKTMFRIPWKHAGKQDFREDQDAAFFKAWAIFKGKYKEGDTGGPAVWKTRLRCALNKSSEFKEVPERGRMDVAEPYKVYQLLPPGIVSGQPGTQKVPSKRQHSSVSSERKEEEDAMQNCTLSPSVLQDSLNNEEEGASGGAVHSDIGSSSSSSSPEPQEVTDTTEAPFQGDQRSLEFLLPPEPDYSLLLTFIYNGRVVGEAQVQSLDCRLVAEPSGSESSMEQVLFPKPGPLEPTQRLLSQLERGILVASNPRGLFVQRLCPIPISWNAPQAPPGPGPHLLPSNECVELFRTAYFCRDLVRYFQGLGPPPKFQVTLNFWEESHGSSHTPQNLITVKMEQAFARYLLEQTPEQQAAILSLV
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 65 (IMD65) [MIM:618648]: An autosomal recessive immunologic disorder characterized by recurrent viral infections from early infancy. Clinical consequences are pneumonia, bronchiectasis, and septic shock. Affected individuals have lymphopenia or hypogammaglobulinemia, particularly during infection, and impaired cellular type I interferon response. Patients may have adverse response to vaccination with live attenuated vaccines. {ECO:0000269|PubMed:30143481, ECO:0000269|PubMed:30826365}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that plays an essential role in anti-viral immunity. It mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. IRF9/ISGF3G associates with the phosphorylated STAT1:STAT2 dimer to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive the cell in an antiviral state. {ECO:0000269|PubMed:30143481}.
uniprot
proteins
mass_dalton
43696
uniprot
proteins
mutagenesis
MUTAGEN 81; /note="K->R: Loss of transcriptional activation in response to type I interferon stimulation. Impaired anti-viral immunity."; /evidence="ECO:0000269|PubMed:30143481"; MUTAGEN 292; /note="R->Q: Decreased transcriptional activation in response to type I interferon stimulation. Decreased anti-viral immunity."; /evidence="ECO:0000269|PubMed:30143481
uniprot
proteins
post_translational_modification
PTM: (Microbial infection) Ubiquitinated by Herpes simplex virus 2 E3 ubiquitin ligase ICP22. {ECO:0000269|PubMed:32699158}.
uniprot
proteins
protein_family
IRF family
uniprot
proteins
pubmed
10702714
uniprot
proteins
pubmed
11846981
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1630447
uniprot
proteins
pubmed
30143481
uniprot
proteins
pubmed
30826365
uniprot
proteins
pubmed
32581091
uniprot
proteins
pubmed
32699158
uniprot
proteins
sequence_length
393
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11846981}. Nucleus {ECO:0000269|PubMed:11846981, ECO:0000269|PubMed:30143481}. Note=Translocated into the nucleus upon activation by IFN-alpha/beta.
uniprot
proteins