GABPA Gene Summary [Human]

This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]

Details

Type
Protein Coding
Official Symbol
GABPA
Official Name
GA binding protein transcription factor subunit alpha [Source:HGNC Symbol;Acc:HGNC:4071]
Ensembl ID
ENSG00000154727
Bio databases IDs NCBI: 2551 Ensembl: ENSG00000154727
Aliases GA binding protein transcription factor subunit alpha, human nuclear respiratory factor-2 subunit alpha, nuclear respiratory factor 2 alpha subunit
Synonyms E4TF1-60, E4TF1A, GA binding protein transcription factor subunit alpha, GA binding protein transcription factor subunit α, GABPalpha, GA repeat binding protein, alpha, GA repeat binding protein, α, NFT2, NRF2, NRF2A, Nrf-2alpha, RCH04A07
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 GABPA 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
  • transcription regulator
  • nucleic acid binding
  • SAM (Sterile alpha motif )
  • chromatin binding
  • protein binding
  • sequence-specific DNA binding
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • Sterile alpha motif (SAM)/Pointed domain
  • GA-binding protein alpha chain
  • double-stranded DNA binding
  • pointed domain
  • Ets-domain
  • transcription factor activity

Pathways

Biological processes and signaling networks where the GABPA 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
  • gout
  • organismal death
  • Hutchinson-Gilford progeria syndrome
  • Down syndrome
  • colorectal cancer
regulated by
regulates
  • reactive oxygen species
  • MYC
  • histone H3
  • glutathione
  • malondialdehyde
  • HMOX1
  • NQO1
  • TSHR
  • TERT
  • luciferase reporter gene
role in cell
  • activation in
  • expression in
  • apoptosis
  • production in
  • invasion by
  • differentiation
  • growth
  • development
  • morphology
  • neurotransmission

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
  • nucleoplasm
  • chromatin
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GABPA 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
  • blastocyst formation
  • cell differentiation
  • negative regulation of megakaryocyte 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
  • 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
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
  • chromatin binding
  • 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.