MAFB
entrez
9935
canonical
uniprot
Q9Y5Q3
canonical
ensembl
ENSG00000204103
resolver
ensp
ENSP00000362410
resolver
enst
ENST00000373313
resolver
genesymbol
MAFB
resolver
genesymbol_syn
KRML
resolver
hgnc
HGNC:6408
resolver
uniprot
B3KNE1
resolver
uniprot
Q9H1F1
resolver
uniprot_entry
MAFB_HUMAN
resolver
uniprot_sec
B3KNE1
resolver
uniprot_sec
Q9H1F1
resolver
amino_acid_sequence
MAAELSMGPELPTSPLAMEYVNDFDLLKFDVKKEPLGRAERPGRPCTRLQPAGSVSSTPLSTPCSSVPSSPSFSPTEQKTHLEDLYWMASNYQQMNPEALNLTPEDAVEALIGSHPVPQPLQSFDSFRGAHHHHHHHHPHPHHAYPGAGVAHDELGPHAHPHHHHHHQASPPPSSAASPAQQLPTSHPGPGPHATASATAAGGNGSVEDRFSDDQLVSMSVRELNRHLRGFTKDEVIRLKQKRRTLKNRGYAQSCRYKRVQQKHHLENEKTQLIQQVEQLKQEVSRLARERDAYKVKCEKLANSGFREAGSTSDSPSSPEFFL
uniprot
proteins
disease_involvement
DISEASE: Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]: A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Intellectual disability and minor facial anomalies have been noted in some patients. {ECO:0000269|PubMed:22387013}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Duane retraction syndrome 3 with or without deafness (DURS3) [MIM:617041]: A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss. {ECO:0000269|PubMed:27181683}. 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 (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Required for the transcriptional activation of HOXB3 in the rhombomere r5 in the hindbrain (By similarity). {ECO:0000250|UniProtKB:P54841, ECO:0000269|PubMed:19143053, ECO:0000269|PubMed:27181683}.
uniprot
proteins
mass_dalton
35792
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by GSK3 and MAPK13 on serine and threonine residues. {ECO:0000305|PubMed:15963504, ECO:0000305|PubMed:18042454}.; PTM: Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes macrophage differentiation from myeloid progenitors (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
BZIP family
uniprot
proteins
protein_family
Maf subfamily
uniprot
proteins
pubmed
10444328
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15135046
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15963504
uniprot
proteins
pubmed
18042454
uniprot
proteins
pubmed
19143053
uniprot
proteins
pubmed
22387013
uniprot
proteins
pubmed
27181683
uniprot
proteins
sequence_length
323
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978}.
uniprot
proteins