NDUFA13
entrez
51079
canonical
uniprot
Q9P0J0
canonical
ensembl
ENSG00000186010
resolver
ensp
ENSP00000423673
resolver
genesymbol
NDUFA13
resolver
genesymbol_syn
GRIM19
resolver
hgnc
HGNC:17194
resolver
uniprot
B4DF76
resolver
uniprot
K7EK58
resolver
uniprot
Q6PKI0
resolver
uniprot
Q9H2L3
resolver
uniprot
Q9Y327
resolver
uniprot_entry
NDUAD_HUMAN
resolver
uniprot_sec
B4DF76
resolver
uniprot_sec
K7EK58
resolver
uniprot_sec
Q6PKI0
resolver
uniprot_sec
Q9H2L3
resolver
uniprot_sec
Q9Y327
resolver
amino_acid_sequence
MAASKVKQDMPPPGGYGPIDYKRNLPRRGLSGYSMLAIGIGTLIYGHWSIMKWNRERRRLQIEDFEARIALLPLLQAETDRRTLQMLRENLEEEAIIMKDVPDWKVGESVFHTTRWVPPLIGELYGLRTTEEALHASHGFMWYT
uniprot
proteins
disease_involvement
DISEASE: Hurthle cell thyroid carcinoma (HCTC) [MIM:607464]: A rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type. {ECO:0000269|PubMed:15841082}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) [MIM:618249]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN28 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:25901006}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371). Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes (PubMed:15753091). {ECO:0000269|PubMed:12628925, ECO:0000269|PubMed:12867595, ECO:0000269|PubMed:15753091, ECO:0000269|PubMed:27626371}.
uniprot
proteins
mass_dalton
16698
uniprot
proteins
protein_family
Complex I NDUFA13 subunit family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
10924506
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
12163600
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12628925
uniprot
proteins
pubmed
12867595
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15059901
uniprot
proteins
pubmed
15367666
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15753091
uniprot
proteins
pubmed
15841082
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25901006
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
sequence_length
144
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:12628925, ECO:0000269|PubMed:15059901, ECO:0000269|PubMed:15367666}; Single-pass membrane protein {ECO:0000255}; Matrix side. Nucleus {ECO:0000269|PubMed:12628925}. Note=Localizes mainly in the mitochondrion (PubMed:12628925). May be translocated into the nucleus upon IFN/RA treatment. {ECO:0000269|PubMed:12628925, ECO:0000269|PubMed:15059901}.
uniprot
proteins
transmembrane_region
TRANSMEM 30..51; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins