UniProtKB - Q9P0J0 (NDUAD_HUMAN)
Protein
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
Gene
NDUFA13
Organism
Homo sapiens (Human)
Status
Functioni
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).4 Publications
GO - Molecular functioni
- ATP binding Source: UniProtKB
- NADH dehydrogenase (ubiquinone) activity Source: UniProtKB
- NADH dehydrogenase activity Source: UniProtKB
GO - Biological processi
- apoptotic signaling pathway Source: UniProtKB
- cellular response to interferon-beta Source: ParkinsonsUK-UCL
- cellular response to retinoic acid Source: ParkinsonsUK-UCL
- extrinsic apoptotic signaling pathway Source: Ensembl
- mitochondrial electron transport, NADH to ubiquinone Source: Reactome
- mitochondrial respiratory chain complex I assembly Source: UniProtKB
- negative regulation of cell growth Source: UniProtKB
- negative regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: ParkinsonsUK-UCL
- positive regulation of peptidase activity Source: ParkinsonsUK-UCL
- positive regulation of protein catabolic process Source: ParkinsonsUK-UCL
- protein insertion into mitochondrial inner membrane Source: UniProtKB
- reactive oxygen species metabolic process Source: UniProtKB
- viral process Source: UniProtKB-KW
Keywordsi
Biological process | Apoptosis, Electron transport, Host-virus interaction, Respiratory chain, Transport |
Enzyme and pathway databases
BioCyci | MetaCyc:HS05364-MONOMER |
PathwayCommonsi | Q9P0J0 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-6799198, Complex I biogenesis |
Names & Taxonomyi
Protein namesi | Recommended name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13Alternative name(s): Cell death regulatory protein GRIM-19 Complex I-B16.6 Short name: CI-B16.6 Gene associated with retinoic and interferon-induced mortality 19 protein Short name: GRIM-19 Short name: Gene associated with retinoic and IFN-induced mortality 19 protein NADH-ubiquinone oxidoreductase B16.6 subunit |
Gene namesi | Name:NDUFA13 Synonyms:GRIM19 ORF Names:CDA016, CGI-39 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000186010.18 |
HGNCi | HGNC:17194, NDUFA13 |
MIMi | 609435, gene |
neXtProti | NX_Q9P0J0 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Mitochondrion
- Mitochondrion inner membrane 3 Publications; Single-pass membrane protein Sequence analysis; Matrix side
Note: Localizes mainly in the mitochondrion (PubMed:12628925). May be translocated into the nucleus upon IFN/RA treatment.2 Publications
Mitochondrion
- mitochondrial inner membrane Source: Reactome
- mitochondrial membrane Source: UniProtKB
- mitochondrial respirasome Source: UniProtKB
- mitochondrial respiratory chain complex I Source: UniProtKB
- mitochondrion Source: UniProtKB
Nucleus
- nucleoplasm Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 30 – 51 | HelicalSequence analysisAdd BLAST | 22 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membrane, NucleusPathology & Biotechi
Involvement in diseasei
Hurthle cell thyroid carcinoma (HCTC)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMMitochondrial complex I deficiency, nuclear type 28 (MC1DN28)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078938 | 57 | R → H in MC1DN28; reduced NDUFA13 protein level resulting in complex I instability. 1 PublicationCorresponds to variant dbSNP:rs752513525EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 51079 |
MalaCardsi | NDUFA13 |
MIMi | 607464, phenotype 618249, phenotype |
OpenTargetsi | ENSG00000186010 |
Orphaneti | 146, Differentiated thyroid carcinoma 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA142671270 |
Miscellaneous databases
Pharosi | Q9P0J0, Tclin |
Chemistry databases
ChEMBLi | CHEMBL4105781 |
DrugBanki | DB00157, NADH |
DrugCentrali | Q9P0J0 |
Polymorphism and mutation databases
BioMutai | NDUFA13 |
DMDMi | 20139242 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedBy similarity | |||
ChainiPRO_0000118804 | 2 – 144 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13Add BLAST | 143 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q9P0J0 |
jPOSTi | Q9P0J0 |
MassIVEi | Q9P0J0 |
MaxQBi | Q9P0J0 |
PaxDbi | Q9P0J0 |
PeptideAtlasi | Q9P0J0 |
PRIDEi | Q9P0J0 |
ProteomicsDBi | 83552 [Q9P0J0-1] |
TopDownProteomicsi | Q9P0J0-1 [Q9P0J0-1] |
PTM databases
iPTMneti | Q9P0J0 |
PhosphoSitePlusi | Q9P0J0 |
Expressioni
Tissue specificityi
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.1 Publication
Developmental stagei
Expressed in numerous fetal tissues.
Inductioni
By IFNB1/IFN-beta combined with all-trans-retinoic acid (ATRA).
Gene expression databases
Bgeei | ENSG00000186010, Expressed in apex of heart and 235 other tissues |
ExpressionAtlasi | Q9P0J0, baseline and differential |
Genevisiblei | Q9P0J0, HS |
Organism-specific databases
HPAi | ENSG00000186010, Tissue enhanced (blood, testis) |
Interactioni
Subunit structurei
(Microbial infection) Interacts with HHV-8 IRF1, in the nucleus, with HPV-16 E6 and SV40 LT (PubMed:12163600).
1 PublicationBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 119270, 95 interactors |
ComplexPortali | CPX-577, Mitochondrial respiratory chain complex I |
CORUMi | Q9P0J0 |
DIPi | DIP-31180N |
IntActi | Q9P0J0, 85 interactors |
MINTi | Q9P0J0 |
STRINGi | 9606.ENSP00000423673 |
Miscellaneous databases
RNActi | Q9P0J0, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 102 – 144 | Important for inducing cell deathAdd BLAST | 43 |
Sequence similaritiesi
Belongs to the complex I NDUFA13 subunit family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3300, Eukaryota |
GeneTreei | ENSGT00390000000719 |
HOGENOMi | CLU_119720_0_0_1 |
InParanoidi | Q9P0J0 |
OMAi | REKVWSR |
OrthoDBi | 1496781at2759 |
PhylomeDBi | Q9P0J0 |
TreeFami | TF315182 |
Family and domain databases
InterProi | View protein in InterPro IPR009346, GRIM-19 |
PANTHERi | PTHR12966, PTHR12966, 1 hit |
Pfami | View protein in Pfam PF06212, GRIM-19, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9P0J0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAASKVKQDM PPPGGYGPID YKRNLPRRGL SGYSMLAIGI GTLIYGHWSI
60 70 80 90 100
MKWNRERRRL QIEDFEARIA LLPLLQAETD RRTLQMLREN LEEEAIIMKD
110 120 130 140
VPDWKVGESV FHTTRWVPPL IGELYGLRTT EEALHASHGF MWYT
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB4DEZ3 | B4DEZ3_HUMAN | Complex I-B16.6 | NDUFA13 | 120 | Annotation score: | ||
K7EJE1 | K7EJE1_HUMAN | Complex I-B16.6 | NDUFA13 | 150 | Annotation score: | ||
U3KQP3 | U3KQP3_HUMAN | Complex I-B16.6 | NDUFA13 | 75 | Annotation score: | ||
K7EP87 | K7EP87_HUMAN | Complex I-B16.6 | NDUFA13 | 107 | Annotation score: |
Sequence cautioni
The sequence AAD27748 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAG44670 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH00589 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 2 | A → P (PubMed:10810093).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_045984 | 5 | K → N in a Hurthle cell variant of papillary carcinoma sample. 1 PublicationCorresponds to variant dbSNP:rs137852869EnsemblClinVar. | 1 | |
Natural variantiVAR_078938 | 57 | R → H in MC1DN28; reduced NDUFA13 protein level resulting in complex I instability. 1 PublicationCorresponds to variant dbSNP:rs752513525EnsemblClinVar. | 1 | |
Natural variantiVAR_045985 | 115 | R → P in a Hurthle cell variant of papillary carcinoma sample. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056644 | 143 – 144 | YT → ALELQPPLADMGRAELSSNA TTSLVQRRKQAWGRQSWLEQ IWNAGPVCQRLHRGGSRPGA GAAGGLSLWAAAARGAVRSC in isoform 2. 1 Publication | 2 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF286697 mRNA Translation: AAG28167.1 AF155662 mRNA Translation: AAF67481.1 AF132973 mRNA Translation: AAD27748.1 Different initiation. AF261134 mRNA Translation: AAG44670.1 Different initiation. AK293965 mRNA Translation: BAG57337.1 AC011448 Genomic DNA No translation available. BC000589 mRNA Translation: AAH00589.2 Different initiation. BC009189 mRNA Translation: AAH09189.1 |
CCDSi | CCDS12404.2 [Q9P0J0-1] |
RefSeqi | NP_057049.5, NM_015965.6 [Q9P0J0-1] |
Genome annotation databases
Ensembli | ENST00000507754; ENSP00000423673; ENSG00000186010 [Q9P0J0-1] |
GeneIDi | 51079 |
KEGGi | hsa:51079 |
UCSCi | uc021uqu.2, human [Q9P0J0-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF286697 mRNA Translation: AAG28167.1 AF155662 mRNA Translation: AAF67481.1 AF132973 mRNA Translation: AAD27748.1 Different initiation. AF261134 mRNA Translation: AAG44670.1 Different initiation. AK293965 mRNA Translation: BAG57337.1 AC011448 Genomic DNA No translation available. BC000589 mRNA Translation: AAH00589.2 Different initiation. BC009189 mRNA Translation: AAH09189.1 |
CCDSi | CCDS12404.2 [Q9P0J0-1] |
RefSeqi | NP_057049.5, NM_015965.6 [Q9P0J0-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5XTB | electron microscopy | 3.40 | W | 7-28 | [»] | |
5XTC | electron microscopy | 3.70 | W | 29-144 | [»] | |
5XTD | electron microscopy | 3.70 | W | 7-144 | [»] | |
5XTH | electron microscopy | 3.90 | W | 7-144 | [»] | |
5XTI | electron microscopy | 17.40 | BW/W | 7-144 | [»] | |
SMRi | Q9P0J0 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119270, 95 interactors |
ComplexPortali | CPX-577, Mitochondrial respiratory chain complex I |
CORUMi | Q9P0J0 |
DIPi | DIP-31180N |
IntActi | Q9P0J0, 85 interactors |
MINTi | Q9P0J0 |
STRINGi | 9606.ENSP00000423673 |
Chemistry databases
ChEMBLi | CHEMBL4105781 |
DrugBanki | DB00157, NADH |
DrugCentrali | Q9P0J0 |
PTM databases
iPTMneti | Q9P0J0 |
PhosphoSitePlusi | Q9P0J0 |
Polymorphism and mutation databases
BioMutai | NDUFA13 |
DMDMi | 20139242 |
Proteomic databases
EPDi | Q9P0J0 |
jPOSTi | Q9P0J0 |
MassIVEi | Q9P0J0 |
MaxQBi | Q9P0J0 |
PaxDbi | Q9P0J0 |
PeptideAtlasi | Q9P0J0 |
PRIDEi | Q9P0J0 |
ProteomicsDBi | 83552 [Q9P0J0-1] |
TopDownProteomicsi | Q9P0J0-1 [Q9P0J0-1] |
Protocols and materials databases
Antibodypediai | 28492, 271 antibodies |
Genome annotation databases
Ensembli | ENST00000507754; ENSP00000423673; ENSG00000186010 [Q9P0J0-1] |
GeneIDi | 51079 |
KEGGi | hsa:51079 |
UCSCi | uc021uqu.2, human [Q9P0J0-1] |
Organism-specific databases
CTDi | 51079 |
DisGeNETi | 51079 |
EuPathDBi | HostDB:ENSG00000186010.18 |
GeneCardsi | NDUFA13 |
HGNCi | HGNC:17194, NDUFA13 |
HPAi | ENSG00000186010, Tissue enhanced (blood, testis) |
MalaCardsi | NDUFA13 |
MIMi | 607464, phenotype 609435, gene 618249, phenotype |
neXtProti | NX_Q9P0J0 |
OpenTargetsi | ENSG00000186010 |
Orphaneti | 146, Differentiated thyroid carcinoma 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA142671270 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3300, Eukaryota |
GeneTreei | ENSGT00390000000719 |
HOGENOMi | CLU_119720_0_0_1 |
InParanoidi | Q9P0J0 |
OMAi | REKVWSR |
OrthoDBi | 1496781at2759 |
PhylomeDBi | Q9P0J0 |
TreeFami | TF315182 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS05364-MONOMER |
PathwayCommonsi | Q9P0J0 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-6799198, Complex I biogenesis |
Miscellaneous databases
BioGRID-ORCSi | 51079, 186 hits in 849 CRISPR screens |
ChiTaRSi | NDUFA13, human |
GeneWikii | NDUFA13 |
GenomeRNAii | 51079 |
Pharosi | Q9P0J0, Tclin |
PROi | PR:Q9P0J0 |
RNActi | Q9P0J0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000186010, Expressed in apex of heart and 235 other tissues |
ExpressionAtlasi | Q9P0J0, baseline and differential |
Genevisiblei | Q9P0J0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR009346, GRIM-19 |
PANTHERi | PTHR12966, PTHR12966, 1 hit |
Pfami | View protein in Pfam PF06212, GRIM-19, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NDUAD_HUMAN | |
Accessioni | Q9P0J0Primary (citable) accession number: Q9P0J0 Secondary accession number(s): B4DF76 Q9Y327 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 27, 2002 |
Last sequence update: | January 23, 2007 | |
Last modified: | December 2, 2020 | |
This is version 192 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations