MAF Gene Summary [Human]

The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Details

Type
Protein Coding
Official Symbol
MAF
Official Name
MAF bZIP transcription factor [Source:HGNC Symbol;Acc:HGNC:6776]
Ensembl ID
ENSG00000178573
Bio databases IDs NCBI: 4094 Ensembl: ENSG00000178573
Aliases MAF bZIP transcription factor
Synonyms 2810401A20Rik, A230108G15RIK, AW047063, AYGRP, CCA4, c-MAF, CTRCT21, LOC105371352, LOC108348985, Maf2, MAF bZIP transcription factor, V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG
Species
Human, Homo sapiens
OrthologiesMouseRat

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 MAF 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
  • Maf N-terminal region
  • transcription regulator
  • transcription activation domain
  • leucine zipper domain
  • protein binding
  • sequence-specific DNA binding
  • identical protein binding
  • DNA binding
  • bZIP domain
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • leucine-rich repeat
  • binding protein
  • double-stranded DNA binding
  • basic domain
  • bZIP
  • transcription factor activity
  • basic region leucin zipper

Pathways

Biological processes and signaling networks where the MAF 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
  • neoplasia
  • cancer
  • early-onset preeclampsia
  • diabetes mellitus
  • Ayme-Gripp syndrome
  • congenital cataract
  • hereditary disorder
  • multiple types cataract 21
  • peripheral T-cell lymphoma
  • T-cell non-Hodgkin disease
regulated by
role in cell
  • activation
  • apoptosis
  • activation in
  • expression in
  • proliferation
  • growth
  • quantity
  • production in
  • migration
  • phosphorylation in

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
  • Cytoplasm
  • vesicles
  • cytosol
  • nucleoplasm
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MAF 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
  • megakaryocyte differentiation
  • inner ear development
  • regulation of chondrocyte differentiation
  • positive regulation of gene expression
  • transcription from RNA polymerase II promoter
  • lens fiber cell differentiation
  • 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
  • cytoplasm
  • chromatin

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding
  • 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.