MAFK Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MAFK |
| Official Name | MAF bZIP transcription factor K [Source:HGNC Symbol;Acc:HGNC:6782] |
| Ensembl ID | ENSG00000198517 |
| Bio databases IDs | |
| Aliases | MAF bZIP transcription factor K, basic-leucine zipper transcription factor MafK, erythroid transcription factor NF-E2 p18 subunit, nuclear factor erythroid-2, ubiquitous (p18) |
| Synonyms | Bi284461, FLJ32205, MAF bZIP transcription factor K, NF-E2, NFE2U, P18, p18 NF-E2, v-maf musculoaponeurotic fibrosarcoma oncogene family, protein K (avian) |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MAFK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- DNA binding domain
- nucleic acid binding
- Basic region leucine zipper
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- bZIP
- transcription factor activity
- basic region leucin zipper
Pathways
Biological processes and signaling networks where the MAFK gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypoplasia
- neurodegeneration
role in cell
- expression in
- replication in
- binding in
- quantity
- differentiation
- outgrowth
- suppression in
- maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- centromeric region
- nucleoplasm
- nuclear rim
- chromatin
- heterochromatic compartments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAFK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity