MAFB

The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]

Full Name

MAF bZIP transcription factor B

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).

Biological Process

Abducens nerve formationISS:UniProtKB
Brain segmentationIEA:Ensembl
Cornified envelope assemblyIEA:Ensembl
Fat cell differentiationISS:UniProtKB
Inner ear morphogenesisIEA:Ensembl
Integrated stress response signaling1 PublicationIC:ComplexPortal
Keratinocyte differentiationIEA:Ensembl
Negative regulation of erythrocyte differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of osteoclast differentiationISS:UniProtKB
Positive regulation of transcription, DNA-templatedISS:UniProtKB
Protein processingIEA:Ensembl
Regulation of myeloid cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIMP:UniProtKB
Respiratory gaseous exchange by respiratory systemIEA:Ensembl
Rhombomere 5 developmentIEA:Ensembl
Rhombomere 6 developmentIEA:Ensembl
Segment specificationIEA:Ensembl
Sensory organ developmentManual Assertion Based On ExperimentTAS:ProtInc
T cell differentiation in thymusIEA:Ensembl
Thymus developmentIEA:Ensembl

Cellular Location

Nucleus

Involvement in disease

Multicentric carpotarsal osteolysis syndrome (MCTO):
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. Mental retardation and minor facial anomalies have been noted in some patients.
Duane retraction syndrome 3 with or without deafness (DURS3):
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.

PTM

Phosphorylated by GSK3 and MAPK13 on serine and threonine residues.
Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes macrophage differentiation from myeloid progenitors (By similarity).