Homo sapiens Protein: NDUFA13
Summary
InnateDB Protein IDBP-474349.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFA13
Protein Name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000423673
InnateDB Gene IDBG-39983 (NDUFA13)
Protein Structure
UniProt Annotation
Function Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. 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. 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. {ECO:0000269PubMed:12628925, ECO:0000269PubMed:12867595, ECO:0000269PubMed:15753091}.
Subcellular Localization Mitochondrion inner membrane; Single-pass membrane protein; Matrix side. Nucleus. Note=May be translocated into the nucleus upon IFN/RA treatment.
Disease Associations 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:0000269PubMed:15841082}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity Widely expressed, with highest expression in heart, skeletal muscle, liver, kidney and placenta. In intestinal mucosa, down-regulated in areas involved in Crohn disease and ulcerative colitis. {ECO:0000269PubMed:10924506}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003954 NADH dehydrogenase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008137 NADH dehydrogenase (ubiquinone) activity
Biological Process
GO:0022904 respiratory electron transport chain
GO:0030308 negative regulation of cell growth
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:0045039 protein import into mitochondrial inner membrane
GO:0045087 innate immune response (InnateDB)
GO:0045892 negative regulation of transcription, DNA-templated
GO:0072593 reactive oxygen species metabolic process
GO:0097190 apoptotic signaling pathway
GO:2001243 negative regulation of intrinsic apoptotic signaling pathway
Cellular Component
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005746 mitochondrial respiratory chain
GO:0005747 mitochondrial respiratory chain complex I
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR009346 GRIM-19
PFAM PF06212
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9P0J0
PhosphoSite PhosphoSite-Q9P0J0
TrEMBL J3KN00
UniProt Splice Variant
Entrez Gene 51079
UniGene
RefSeq NP_057049
HUGO HGNC:17194
OMIM 609435
CCDS CCDS12404
HPRD 09452
IMGT
EMBL AC011448 AF132973 AF155662 AF261134 AF286697 BC000589 BC009189 CH471106
GenPept AAD27748 AAF67481 AAG28167 AAG44670 AAH00589 AAH09189 EAW84826