ATPAF1 Gene Summary [Human]

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

Details

Type
Protein Coding
Official Symbol
ATPAF1
Official Name
ATP synthase mitochondrial F1 complex assembly factor 1 [Source:HGNC Symbol;Acc:HGNC:18803]
Ensembl ID
ENSG00000123472
Bio databases IDs NCBI: 64756 Ensembl: ENSG00000123472
Aliases ATP synthase mitochondrial F1 complex assembly factor 1
Synonyms 6330547J17Rik, ATP11, ATP11p, ATP synthase mitochondrial F1 complex assembly factor 1
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 ATPAF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ATP11 protein
  • protein binding

Pathways

Biological processes and signaling networks where the ATPAF1 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
  • Huntington disease
regulated by
  • HTT
  • ompenaclid
  • Immunoglobulin
  • hippocampal neurons
  • OGT
  • cortical neurons

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ATPAF1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • mitochondrial proton-transporting ATP synthase complex assembly

Cellular Component

Where in the cell the gene product is active
  • mitochondrion

Molecular Function

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

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.