NDUFA13
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
Also known as: B16.6, CDA016, CGI-39, GRIM-19, GRIM19, NDUAD_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9P0J0
- Gene
- NDUFA13
- Ensembl
- ENSG00000186010
- Chromosome
- 19
- Canonical length
- 144 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
144 residues, UniProt reviewed canonical sequence.
>Q9P0J0|NDUFA13
1 MAASKVKQDM PPPGGYGPID YKRNLPRRGL SGYSMLAIGI GTLIYGHWSI MKWNRERRRL
61 QIEDFEARIA LLPLLQAETD RRTLQMLREN LEEEAIIMKD VPDWKVGESV FHTTRWVPPL
121 IGELYGLRTT EEALHASHGF MWYTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NDUFA13 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.51
- Highest tissue expression
- 1,295 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 1,295 nTPM
- choroid plexus: 1,186 nTPM
- tongue: 1,029 nTPM
- skeletal muscle: 1,025 nTPM
- basal ganglia: 652 nTPM
- midbrain: 622 nTPM
Single-cell type
- parietal cells: 964 nCPM
- epididymal principal cells: 631 nCPM
- enterocytes: 629 nCPM
- colonocytes: 581 nCPM
- gastric chief cells: 413 nCPM
- enteric transient amplifying cells: 407 nCPM
Immune cell
- total PBMC: 2,094 nTPM
- memory B-cell: 1,291 nTPM
- intermediate monocyte: 1,267 nTPM
- T-reg: 1,250 nTPM
- basophil: 1,215 nTPM
- myeloid DC: 1,169 nTPM
Brain region
- choroid plexus: 360 nTPM
- thalamus: 351 nTPM
- cerebellum: 317 nTPM
- hypothalamus: 312 nTPM
- white matter: 307 nTPM
- medulla oblongata: 294 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NDUFA13.
Disease | AllUniProt
Conditions NDUFA13 is implicated in, by any mechanism.
- Hurthle cell thyroid carcinoma (HCTC) MIM:607464
- Mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) MIM:618249
Disease | GeneticClinVar
7 pathogenic / likely-pathogenic of 104 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Mitochondrial complex I deficiency, nuclear type 28
- Hurthle cell carcinoma of thyroid
- Decreased activity of mitochondrial complex I
- Mitochondrial complex I deficiency
- Melanoma
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.77
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.9
- DepMap mean gene effect
- -0.49
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aerobic respiration
- cellular response to interferon-beta
- cellular response to retinoic acid
- extrinsic apoptotic signaling pathway
- mitochondrial respiratory chain complex I assembly
- negative regulation of DNA-templated transcription
- positive regulation of execution phase of apoptosis
- positive regulation of protein catabolic process
- protein insertion into mitochondrial inner membrane
- proton motive force-driven mitochondrial ATP synthesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- GRIM-19
- GRIM-19 protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NDUFA13 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NDUFA13 as an antibody target. Whether an autoantibody or antibody against NDUFA13 could matter depends on whether native NDUFA13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NDUFA13 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NDUFA13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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