| 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.