MAF
entrez
4094
canonical
uniprot
O75444
canonical
ensembl
ENSG00000178573
resolver
ensp
ENSP00000327048
resolver
ensp
ENSP00000377019
resolver
ensp
ENSP00000455097
resolver
ensp
ENSP00000688960
resolver
enst
ENST00000569649
resolver
genesymbol
MAF
resolver
hgnc
HGNC:6776
resolver
uniprot
H3BP11
resolver
uniprot
Q66I47
resolver
uniprot
Q9UP93
resolver
uniprot_entry
H3BP11_HUMAN
resolver
uniprot_entry
MAF_HUMAN
resolver
uniprot_sec
Q66I47
resolver
uniprot_sec
Q9UP93
resolver
amino_acid_sequence
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGSGSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPAAAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAAGAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEKNQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFM
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving MAF is found in some forms of multiple myeloma (MM). Translocation t(14;16)(q32.3;q23) with an IgH locus.; DISEASE: Cataract 21, multiple types (CTRCT21) [MIM:610202]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269|PubMed:11772997, ECO:0000269|PubMed:16470690, ECO:0000269|PubMed:19182255, ECO:0000269|PubMed:24664492, ECO:0000269|PubMed:29914532}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ayme-Gripp syndrome (AYGRP) [MIM:601088]: A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. {ECO:0000269|PubMed:25865493}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters. {ECO:0000250, ECO:0000269|PubMed:12149651, ECO:0000269|PubMed:14998494, ECO:0000269|PubMed:15007382, ECO:0000269|PubMed:16247450, ECO:0000269|PubMed:19143053}.
uniprot
proteins
mass_dalton
38492
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by glucocorticoids. {ECO:0000269|PubMed:17875808}.; PTM: Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable). The phosphorylation status can serve to either stimulate or inhibit transcription. {ECO:0000269|PubMed:15963504, ECO:0000269|PubMed:18042454, ECO:0000305}.
uniprot
proteins
protein_family
BZIP family
uniprot
proteins
protein_family
Maf subfamily
uniprot
proteins
pubmed
11772997
uniprot
proteins
pubmed
12149651
uniprot
proteins
pubmed
14998494
uniprot
proteins
pubmed
15007382
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
15963504
uniprot
proteins
pubmed
16247450
uniprot
proteins
pubmed
16470690
uniprot
proteins
pubmed
17875808
uniprot
proteins
pubmed
17897790
uniprot
proteins
pubmed
18042454
uniprot
proteins
pubmed
19143053
uniprot
proteins
pubmed
19182255
uniprot
proteins
pubmed
24664492
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25865493
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29914532
uniprot
proteins
pubmed
9616139
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978}.
uniprot
proteins