Aliases for MAFK Gene
External Ids for MAFK Gene
Previous GeneCards Identifiers for MAFK Gene
The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008]
GeneCards Summary for MAFK Gene
MAFK (MAF BZIP Transcription Factor K) is a Protein Coding gene. Diseases associated with MAFK include Fibrosarcoma and Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy. Among its related pathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is MAFG.
UniProtKB/Swiss-Prot Summary for MAFK Gene
Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:9150357). However, they act as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3, and recruiting them to specific DNA-binding sites (PubMed:9150357, PubMed:8932385). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor (PubMed:9150357).