MAFA Gene Summary [Human]
MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]
Details
| Type | Processed Transcript |
| Official Symbol | MAFA |
| Official Name | MAF bZIP transcription factor A [Source:HGNC Symbol;Acc:HGNC:23145] |
| Ensembl ID | ENSG00000182759 |
| Bio databases IDs | |
| Aliases | MAF bZIP transcription factor A, RIPE3b1 activator |
| Synonyms | hMafA, INSDM, Maf, MAF bZIP transcription factor A, RGD1562627, RIPE3b1 |
| 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 MAFA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- Maf N-terminal region
- transcription regulator
- DNA binding domain
- nucleic acid binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- bZIP
- transcription factor activity
- basic region leucin zipper
Pathways
Biological processes and signaling networks where the MAFA 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
- diabetes mellitus
- hyperglycemia
- insulinomatosis and diabetes mellitus
- renal cancer
- hypoglycemia
- non-insulin-dependent diabetes mellitus
- soft tissue sarcoma cancer
- cleft palate
- clear cell sarcoma of the kidney
- impaired glucose tolerance
role in cell
- expression in
- activation in
- proliferation
- phosphorylation in
- senescence
- quantity
- transcription in
- differentiation
- degradation in
- mass
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAFA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to glucose stimulus
- insulin secretion
- regulation of transcription, DNA-dependent
- positive 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
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity