IRF4
entrez
3662
canonical
uniprot
Q15306
canonical
ensembl
ENSG00000137265
resolver
ensp
ENSP00000370343
resolver
ensp
ENSP00000512940
resolver
ensp
ENSP00000536612
resolver
genesymbol
IRF4
resolver
genesymbol_syn
MUM1
resolver
hgnc
HGNC:6119
resolver
uniprot
Q5VUI7
resolver
uniprot
Q99660
resolver
uniprot_entry
IRF4_HUMAN
resolver
uniprot_sec
Q5VUI7
resolver
uniprot_sec
Q99660
resolver
amino_acid_sequence
MNLEGGGRGGEFGMSAVSCGNGKLRQWLIDQIDSGKYPGLVWENEEKSIFRIPWKHAGKQDYNREEDAALFKAWALFKGKFREGIDKPDPPTWKTRLRCALNKSNDFEELVERSQLDISDPYKVYRIVPEGAKKGAKQLTLEDPQMSMSHPYTMTTPYPSLPAQQVHNYMMPPLDRSWRDYVPDQPHPEIPYQCPMTFGPRGHHWQGPACENGCQVTGTFYACAPPESQAPGVPTEPSIRSAEALAFSDCRLHICLYYREILVKELTTSSPEGCRISHGHTYDASNLDQVLFPYPEDNGQRKNIEKLLSHLERGVVLWMAPDGLYAKRLCQSRIYWDGPLALCNDRPNKLERDQTCKLFDTQQFLSELQAFAHHGRSLPRFQVTLCFGEEFPDPQRQRKLITAHVEPLLARQLYYFAQQNSGHFLRGYDLPEHISNPEDYHRSIRHSSIQE
uniprot
proteins
disease_involvement
DISEASE: Multiple myeloma (MM) [MIM:254500]: A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. {ECO:0000269|PubMed:9326949}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving IRF4 has been found in multiple myeloma. Translocation t(6;14)(p25;q32) with the IgH locus.; DISEASE: Immunodeficiency 131 (IMD131) [MIM:621097]: An immunologic disorder characterized by recurrent infections, including infections with opportunistic pathogens, and low IgM, IgG, and IgA serum levels, low plasma cell counts and abnormal T-cell subsets. IMD131 inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:29408330, ECO:0000269|PubMed:29537367, ECO:0000269|PubMed:36662884, ECO:0000269|PubMed:36917008}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transduction mechanisms specific to lymphoid cells. 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 IRF4 and activation of genes. {ECO:0000269|PubMed:29537367, ECO:0000269|PubMed:36662884, ECO:0000269|PubMed:36917008}.
uniprot
proteins
mass_dalton
51772
uniprot
proteins
mutagenesis
MUTAGEN 98..99; /note="RC->AA: Loss of DNA-binding transcription activator activity."; /evidence="ECO:0000269|PubMed:29537367, ECO:0000269|PubMed:36917008"; MUTAGEN 368; /note="L->P: Loss of DNA-binding transcription activator activity."; /evidence="ECO:0000269|PubMed:36917008
uniprot
proteins
post_translational_modification
PTM: Phosphorylation by ROCK2 regulates IL-17 and IL-21 production. {ECO:0000250}.
uniprot
proteins
protein_family
IRF family
uniprot
proteins
pubmed
10196196
uniprot
proteins
pubmed
12651066
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18483556
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24267888
uniprot
proteins
pubmed
29408330
uniprot
proteins
pubmed
29537367
uniprot
proteins
pubmed
33951726
uniprot
proteins
pubmed
36662884
uniprot
proteins
pubmed
36917008
uniprot
proteins
pubmed
8921401
uniprot
proteins
pubmed
9326949
uniprot
proteins
sequence_length
451
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:36917008}. Cytoplasm {ECO:0000269|PubMed:36917008}.
uniprot
proteins