Gene: MAFB

Basic information

Tag Content
Uniprot ID Q9Y5Q3; B3KNE1; Q9H1F1;
Entrez ID 9935
Genbank protein ID AAD30106.1; BAG51303.1; AAH28098.1; AAH36689.1; EAW76000.1;
Genbank nucleotide ID NM_005461.4
Ensembl protein ID ENSP00000362410
Ensembl nucleotide ID ENSG00000204103
Gene name Transcription factor MafB
Gene symbol MAFB
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 21567910; 24972815; 25081408; 21834038; 20436469;
Functional description 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).
Sequence
MAAELSMGPE LPTSPLAMEY VNDFDLLKFD VKKEPLGRAE RPGRPCTRLQ PAGSVSSTPL 60
STPCSSVPSS PSFSPTEQKT HLEDLYWMAS NYQQMNPEAL NLTPEDAVEA LIGSHPVPQP 120
LQSFDSFRGA HHHHHHHHPH PHHAYPGAGV AHDELGPHAH PHHHHHHQAS PPPSSAASPA 180
QQLPTSHPGP GPHATASATA AGGNGSVEDR FSDDQLVSMS VRELNRHLRG FTKDEVIRLK 240
QKRRTLKNRG YAQSCRYKRV QQKHHLENEK TQLIQQVEQL KQEVSRLARE RDAYKVKCEK 300
LANSGFREAG STSDSPSSPE FFL 323

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)