ELF4
entrez
2000
canonical
uniprot
Q99607
canonical
ensembl
ENSG00000102034
resolver
ensp
ENSP00000311280
resolver
ensp
ENSP00000338608
resolver
ensp
ENSP00000550943
resolver
ensp
ENSP00000550945
resolver
ensp
ENSP00000550946
resolver
ensp
ENSP00000628405
resolver
enst
ENST00000308167
resolver
enst
ENST00000335997
resolver
enst
ENST00000880884
resolver
enst
ENST00000880886
resolver
enst
ENST00000880887
resolver
enst
ENST00000958346
resolver
genesymbol
ELF4
resolver
genesymbol_syn
ELFR
resolver
genesymbol_syn
MEF
resolver
hgnc
HGNC:3319
resolver
uniprot
D3DTG1
resolver
uniprot
O60435
resolver
uniprot_entry
ELF4_HUMAN
resolver
uniprot_sec
D3DTG1
resolver
uniprot_sec
O60435
resolver
amino_acid_sequence
MAITLQPSDLIFEFASNGMDDDIHQLEDPSVFPAVIVEQVPYPDLLHLYSGLELDDVHNGIITDGTLCMTQDQILEGSFLLTDDNEATSHTMSTAEVLLNMESPSDILDEKQIFSTSEMLPDSDPAPAVTLPNYLFPASEPDALNRAGDTSDQEGHSLEEKASREESAKKTGKSKKRIRKTKGNRSTSPVTDPSIPIRKKSKDGKGSTIYLWEFLLALLQDRNTCPKYIKWTQREKGIFKLVDSKAVSKLWGKQKNKPDMNYETMGRALRYYYQRGILAKVEGQRLVYQFKEMPKDLVVIEDEDESSEATAAPPQASTASVASASTTRRTSSRVSSRSAPQGKGSSSWEKPKIQHVGLQPSASLELGPSLDEEIPTTSTMLVSPAEGQVKLTKAVSASSVPSNIHLGVAPVGSGSALTLQTIPLTTVLTNGPPASTTAPTQLVLQSVPAASTFKDTFTLQASFPLNASFQDSQVAAPGAPLILSGLPQLLAGANRPTNPAPPTVTGAGPAGPSSQPPGTVIAAFIRTSGTTAAPRVKEGPLRSSSYVQGMVTGAPMEGLLVPEETLRELLRDQAHLQPLPTQVVSRGSHNPSLLGNQTLSPPSRPTVGLTPVAELELSSGSGSLLMAEPSVTTSGSLLTRSPTPAPFSPFNPTSLIKMEPHDI
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving ELF4 has been found in a case of acute myeloid leukemia (AML). Translocation t(X;21)(q25-26;q22) with ERG. {ECO:0000269|PubMed:16303180}.; DISEASE: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (AIFBL2) [MIM:301074]: An X-linked recessive, autoinflammatory disorder characterized by ulceration of the oral mucosa and skin inflammation. Additional variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Disease onset is in early childhood. {ECO:0000269|PubMed:34326534, ECO:0000269|PubMed:35266071}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Transactivates the PRF1 promoter in natural killer (NK) cells and CD8+ T cells (PubMed:34326534). Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By similarity). Controls cell senescence in a p53-dependent manner. Can also promote cellular transformation through inhibition of the p16 pathway. Is a transcriptional regulator of inflammation, controlling T-helper 17 (Th17) cells and macrophage inflammatory responses. Required for sustained transcription of anti-inflammatory genes, including IL1RN (PubMed:34326534, PubMed:35266071). Is a negative regulator of pro-inflammatory cytokines expression including IL17A, IL1B, IL6, TNFA and CXCL1 (PubMed:34326534, PubMed:35266071). Down-regulates expression of TREM1, a cell surface receptor involved in the amplification of inflammatory responses (By similarity) (PubMed:34326534, PubMed:35266071). {ECO:0000250, ECO:0000269|PubMed:10207087, ECO:0000269|PubMed:14625302, ECO:0000269|PubMed:14976184, ECO:0000269|PubMed:19380490, ECO:0000269|PubMed:34326534, ECO:0000269|PubMed:35266071, ECO:0000269|PubMed:8895518, ECO:0000269|PubMed:9524226}.
uniprot
proteins
mass_dalton
70730
uniprot
proteins
mutagenesis
MUTAGEN 211; /note="L->A: Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay."; /evidence="ECO:0000269|PubMed:35266071"; MUTAGEN 212; /note="W->A: Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay."; /evidence="ECO:0000269|PubMed:35266071"; MUTAGEN 219; /note="L->A: Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay."; /evidence="ECO:0000269|PubMed:35266071"; MUTAGEN 239; /note="F->A: Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay."; /evidence="ECO:0000269|PubMed:35266071"; MUTAGEN 251; /note="W->A: Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay. Loss of INFB1 promoter binding. Does not bind GPR35, GPR162 and PLCB2 promoters."; /evidence="ECO:0000269|PubMed:35266071"; MUTAGEN 252; /note="G->A: Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay."; /evidence="ECO:0000269|PubMed:35266071"; MUTAGEN 255; /note="K->A: Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay."; /evidence="ECO:0000269|PubMed:35266071"; MUTAGEN 260; /note="M->A: Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay."; /evidence="ECO:0000269|PubMed:35266071
uniprot
proteins
protein_family
ETS family
uniprot
proteins
pubmed
10207087
uniprot
proteins
pubmed
14625302
uniprot
proteins
pubmed
14976184
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16303180
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19380490
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
34326534
uniprot
proteins
pubmed
35266071
uniprot
proteins
pubmed
8895518
uniprot
proteins
pubmed
9524226
uniprot
proteins
sequence_length
663
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, PML body {ECO:0000269|PubMed:14976184}. Note=Accumulation into PML nuclear bodies is mediated by PML.
uniprot
proteins