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Q9P0J0

- NDUAD_HUMAN

UniProt

Q9P0J0 - NDUAD_HUMAN

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Protein
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
Gene
NDUFA13, GRIM19, CDA016, CGI-39
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

  1. ATP binding Source: UniProtKB
  2. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB
  3. NADH dehydrogenase activity Source: UniProtKB
  4. protein binding Source: UniProtKB

GO - Biological processi

  1. apoptotic signaling pathway Source: UniProtKB
  2. cellular metabolic process Source: Reactome
  3. extrinsic apoptotic signaling pathway Source: Ensembl
  4. negative regulation of cell growth Source: UniProtKB
  5. negative regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
  6. negative regulation of transcription, DNA-templated Source: UniProtKB
  7. protein import into mitochondrial inner membrane Source: UniProtKB
  8. reactive oxygen species metabolic process Source: UniProtKB
  9. respiratory electron transport chain Source: Reactome
  10. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Apoptosis, Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:17194. NDUFA13.

Subcellular locationi

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side. Nucleus
Note: May be translocated into the nucleus upon IFN/RA treatment.3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei30 – 5122Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. extracellular vesicular exosome Source: UniProt
  3. integral component of membrane Source: UniProtKB-KW
  4. mitochondrial inner membrane Source: Reactome
  5. mitochondrial membrane Source: UniProtKB
  6. mitochondrial respiratory chain Source: UniProtKB
  7. mitochondrial respiratory chain complex I Source: UniProtKB
  8. mitochondrion Source: UniProtKB
  9. nucleoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Organism-specific databases

MIMi607464. phenotype.
Orphaneti146. Papillary or follicular thyroid carcinoma.
PharmGKBiPA142671270.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 144143NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
PRO_0000118804Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine By similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9P0J0.
PaxDbiQ9P0J0.
PRIDEiQ9P0J0.

PTM databases

PhosphoSiteiQ9P0J0.

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

BgeeiQ9P0J0.
CleanExiHS_NDUFA13.
GenevestigatoriQ9P0J0.

Organism-specific databases

HPAiHPA041213.

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits. Interacts with CARD15, but not with CARD4. Interacts with STAT3, but not with STAT1, STAT2 and STAT5A. Interacts with HHV-8 IRF1, in the nucleus, with HPV-16 E6 and SV40 LT. Interacts with OLFM4.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
HTRA2O434646EBI-372742,EBI-517086

Protein-protein interaction databases

BioGridi119270. 10 interactions.
DIPiDIP-31180N.
IntActiQ9P0J0. 6 interactions.
MINTiMINT-3077817.

Structurei

3D structure databases

ProteinModelPortaliQ9P0J0.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni102 – 14443Important for inducing cell death
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0062.
HOGENOMiHOG000195836.
HOVERGENiHBG019074.
InParanoidiQ9P0J0.
KOiK11353.
PhylomeDBiQ9P0J0.
TreeFamiTF315182.

Family and domain databases

InterProiIPR009346. GRIM-19.
[Graphical view]
PANTHERiPTHR12966. PTHR12966. 1 hit.
PfamiPF06212. GRIM-19. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9P0J0-1 [UniParc]FASTAAdd to Basket

« Hide

MAASKVKQDM PPPGGYGPID YKRNLPRRGL SGYSMLAIGI GTLIYGHWSI    50
MKWNRERRRL QIEDFEARIA LLPLLQAETD RRTLQMLREN LEEEAIIMKD 100
VPDWKVGESV FHTTRWVPPL IGELYGLRTT EEALHASHGF MWYT 144
Length:144
Mass (Da):16,698
Last modified:January 23, 2007 - v3
Checksum:i058F608B235FF856
GO

Sequence cautioni

The sequence AAD27748.1 differs from that shown. Reason: Erroneous initiation.
The sequence AAG44670.1 differs from that shown. Reason: Erroneous initiation.
The sequence AAH00589.2 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51K → N in a Hurthle cell variant of papillary carcinoma sample. 1 Publication
VAR_045984
Natural varianti115 – 1151R → P in a Hurthle cell variant of papillary carcinoma sample. 1 Publication
VAR_045985

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 21A → P1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
BC000589 mRNA. Translation: AAH00589.2. Different initiation.
BC009189 mRNA. Translation: AAH09189.1.
CCDSiCCDS12404.2.
RefSeqiNP_057049.5. NM_015965.6.
UniGeneiHs.534453.

Genome annotation databases

EnsembliENST00000507754; ENSP00000423673; ENSG00000186010.
GeneIDi51079.
KEGGihsa:51079.
UCSCiuc021uqu.1. human.

Polymorphism databases

DMDMi20139242.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
BC000589 mRNA. Translation: AAH00589.2 . Different initiation.
BC009189 mRNA. Translation: AAH09189.1 .
CCDSi CCDS12404.2.
RefSeqi NP_057049.5. NM_015965.6.
UniGenei Hs.534453.

3D structure databases

ProteinModelPortali Q9P0J0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119270. 10 interactions.
DIPi DIP-31180N.
IntActi Q9P0J0. 6 interactions.
MINTi MINT-3077817.

Chemistry

ChEMBLi CHEMBL2363065.
DrugBanki DB00157. NADH.

PTM databases

PhosphoSitei Q9P0J0.

Polymorphism databases

DMDMi 20139242.

Proteomic databases

MaxQBi Q9P0J0.
PaxDbi Q9P0J0.
PRIDEi Q9P0J0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000507754 ; ENSP00000423673 ; ENSG00000186010 .
GeneIDi 51079.
KEGGi hsa:51079.
UCSCi uc021uqu.1. human.

Organism-specific databases

CTDi 51079.
GeneCardsi GC19P019626.
H-InvDB HIX0213010.
HGNCi HGNC:17194. NDUFA13.
HPAi HPA041213.
MIMi 607464. phenotype.
609435. gene.
neXtProti NX_Q9P0J0.
Orphaneti 146. Papillary or follicular thyroid carcinoma.
PharmGKBi PA142671270.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0062.
HOGENOMi HOG000195836.
HOVERGENi HBG019074.
InParanoidi Q9P0J0.
KOi K11353.
PhylomeDBi Q9P0J0.
TreeFami TF315182.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSi NDUFA13. human.
GeneWikii NDUFA13.
GenomeRNAii 51079.
NextBioi 53719.
PROi Q9P0J0.
SOURCEi Search...

Gene expression databases

Bgeei Q9P0J0.
CleanExi HS_NDUFA13.
Genevestigatori Q9P0J0.

Family and domain databases

InterProi IPR009346. GRIM-19.
[Graphical view ]
PANTHERi PTHR12966. PTHR12966. 1 hit.
Pfami PF06212. GRIM-19. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of GRIM-19, a novel cell death-regulatory gene induced by the interferon-beta and retinoic acid combination, using a genetic approach."
    Angell J.E., Lindner D.J., Shapiro P.S., Hofmann E.R., Kalvakolanu D.V.
    J. Biol. Chem. 275:33416-33426(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Mammary carcinoma.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Adrenal gland.
  3. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
    Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
    Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "A novel gene expressed in human pheochromocytoma."
    Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.
    Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pheochromocytoma.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta and Skin.
  6. "Viral interferon regulatory factor 1 of Kaposi's sarcoma-associated herpesvirus interacts with a cell death regulator, GRIM19, and inhibits interferon/retinoic acid-induced cell death."
    Seo T., Lee D., Shim Y.S., Angell J.E., Chidambaram N.V., Kalvakolanu D.V., Choe J.
    J. Virol. 76:8797-8807(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HHV-8 IRF1; HPV-16 E6 AND SV40 LT.
  7. "GRIM-19, a death-regulatory gene product, suppresses Stat3 activity via functional interaction."
    Lufei C., Ma J., Huang G., Zhang T., Novotny-Diermayr V., Ong C.T., Cao X.
    EMBO J. 22:1325-1335(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH STAT3, SUBCELLULAR LOCATION.
  8. "The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification."
    Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F., Ghosh S.S., Capaldi R.A.
    J. Biol. Chem. 278:13619-13622(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  9. "The cell death regulator GRIM-19 is an inhibitor of signal transducer and activator of transcription 3."
    Zhang J., Yang J., Roy S.K., Tininini S., Hu J., Bromberg J.F., Poli V., Stark G.R., Kalvakolanu D.V.
    Proc. Natl. Acad. Sci. U.S.A. 100:9342-9347(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH STAT3.
  10. "GRIM-19, a cell death regulatory protein, is essential for assembly and function of mitochondrial complex I."
    Huang G., Lu H., Hao A., Ng D.C.H., Ponniah S., Guo K., Lufei C., Zeng Q., Cao X.
    Mol. Cell. Biol. 24:8447-8456(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  11. "GW112, a novel antiapoptotic protein that promotes tumor growth."
    Zhang X., Huang Q., Yang Z., Li Y., Li C.-Y.
    Cancer Res. 64:2474-2481(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH OLFM4.
  12. "GRIM-19 interacts with nucleotide oligomerization domain 2 and serves as downstream effector of anti-bacterial function in intestinal epithelial cells."
    Barnich N., Hisamatsu T., Aguirre J.E., Xavier R., Reinecker H.-C., Podolsky D.K.
    J. Biol. Chem. 280:19021-19026(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH CARD15.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid."
    Maximo V., Botelho T., Capela J., Soares P., Lima J., Taveira A., Amaro T., Barbosa A.P., Preto A., Harach H.R., Williams D., Sobrinho-Simoes M.
    Br. J. Cancer 92:1892-1898(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASN-5 AND PRO-115, INVOLVEMENT IN SUSCEPTIBILITY TO HURTHLE CELL THYROID CARCINOMA.

Entry informationi

Entry nameiNDUAD_HUMAN
AccessioniPrimary (citable) accession number: Q9P0J0
Secondary accession number(s): Q6PKI0, Q9H2L3, Q9Y327
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 137 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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