NDUFA13 Gene Summary [Human]

This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]

Details

Type
Nonsense Mediated Decay
Official Symbol
NDUFA13
Official Name
NADH:ubiquinone oxidoreductase subunit A13 [Source:HGNC Symbol;Acc:HGNC:17194]
Ensembl ID
ENSG00000186010
Bio databases IDs NCBI: 51079 Ensembl: ENSG00000186010
Aliases NADH:ubiquinone oxidoreductase subunit A13, complex I B16.6 subunit
Synonyms 2700054G14Rik, B16.6, CDA016, CGI-39, CI-B16.6, GRIM-19, HCC, MC1DN28, NADH:ubiquinone oxidoreductase subunit A13, Ndufa13-ps
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 NDUFA13 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • GRIM-19 protein
  • ATP-binding domain
  • ATP binding
  • enzyme
  • helix-loop-helix domain
  • protein binding

Pathways

Biological processes and signaling networks where the NDUFA13 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
  • metastasis
  • thyroid oncocytic carcinoma
  • Parkinson disease
  • chromophobe renal cell carcinoma
  • chromophobe renal cancer
  • nuclear type 28 mitochondrial complex I deficiency
  • Mitochondrial complex I deficiency
  • neoplastic cell transformation
  • adult acute myeloid leukemia
regulated by
regulates
role in cell
  • apoptosis
  • proliferation
  • cell viability
  • expression in
  • production in
  • phosphorylation in
  • molecular cleavage in
  • growth
  • cell death
  • binding 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.
  • Cytoplasm
  • pH resistant lipid raft fraction
  • Nucleus
  • Mitochondria
  • granules
  • mitochondrial membrane
  • mitochondrial inner membrane
  • nucleoplasm
  • synapse

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NDUFA13 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • extrinsic apoptotic signaling pathway
  • apoptotic signaling pathway
  • protein import into mitochondrial inner membrane
  • positive regulation of protein catabolic process
  • mitochondrial ATP synthesis coupled proton transport
  • positive regulation of execution phase of apoptosis
  • reactive oxygen species metabolic process
  • negative regulation of transcription, DNA-dependent
  • negative regulation of cell growth
  • cellular response to retinoic acid
  • mitochondrial respiratory chain complex I assembly
  • aerobic respiration
  • negative regulation of intrinsic apoptotic signaling pathway
  • cellular response to interferon-beta

Cellular Component

Where in the cell the gene product is active
  • respiratory chain complex I
  • mitochondrial membrane
  • mitochondrial respiratory chain
  • cytoplasm
  • mitochondrion
  • mitochondrial inner membrane
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • endopeptidase activator activity
  • ATP binding
  • protein binding

Gene-Specific Assays for Results You Can Trust

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