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Q9P0J0 (NDUAD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:NDUFA13
Synonyms:GRIM19
ORF Names:CDA016, CGI-39
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length144 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.7 Ref.9 Ref.12

Subunit structure

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. Ref.6 Ref.7 Ref.8 Ref.9 Ref.11 Ref.12

Subcellular location

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side. Nucleus. Note: May be translocated into the nucleus upon IFN/RA treatment. Ref.7 Ref.10 Ref.11

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. Ref.1

Developmental stage

Expressed in numerous fetal tissues.

Induction

By IFNB1/IFN-beta combined with all-trans-retinoic acid (ATRA).

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

Sequence similarities

Belongs to the complex I NDUFA13 subunit family.

Sequence caution

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.

Ontologies

Keywords
   Biological processApoptosis
Electron transport
Respiratory chain
Transport
   Cellular componentMembrane
Mitochondrion
Mitochondrion inner membrane
Nucleus
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic signaling pathway

Inferred from direct assay Ref.1. Source: UniProtKB

cellular metabolic process

Traceable author statement. Source: Reactome

extrinsic apoptotic signaling pathway

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell growth

Inferred from direct assay Ref.1. Source: UniProtKB

negative regulation of intrinsic apoptotic signaling pathway

Inferred from mutant phenotype PubMed 16826196. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from direct assay Ref.9. Source: UniProtKB

protein import into mitochondrial inner membrane

Inferred from direct assay PubMed 23271731. Source: UniProtKB

reactive oxygen species metabolic process

Inferred from mutant phenotype PubMed 16826196. Source: UniProtKB

respiratory electron transport chain

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentcytoplasm

Inferred from direct assay Ref.1. Source: UniProtKB

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrial inner membrane

Traceable author statement. Source: Reactome

mitochondrial membrane

Inferred from direct assay PubMed 17209039. Source: UniProtKB

mitochondrial respiratory chain

Inferred from direct assay Ref.8. Source: UniProtKB

mitochondrial respiratory chain complex I

Inferred from direct assay Ref.8PubMed 17209039. Source: UniProtKB

mitochondrion

Inferred from direct assay Ref.8PubMed 16826196. Source: UniProtKB

nucleoplasm

Inferred from direct assay Ref.1. Source: UniProtKB

   Molecular_functionATP binding

Non-traceable author statement Ref.1. Source: UniProtKB

NADH dehydrogenase (ubiquinone) activity

Inferred from direct assay Ref.8. Source: UniProtKB

NADH dehydrogenase activity

Inferred from mutant phenotype PubMed 16826196. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

HTRA2O434646EBI-372742,EBI-517086

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 144143NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
PRO_0000118804

Regions

Transmembrane30 – 5122Helical; Potential
Region102 – 14443Important for inducing cell death

Amino acid modifications

Modified residue21N-acetylalanine By similarity

Natural variations

Natural variant51K → N in a Hurthle cell variant of papillary carcinoma sample. Ref.14
VAR_045984
Natural variant1151R → P in a Hurthle cell variant of papillary carcinoma sample. Ref.14
VAR_045985

Experimental info

Sequence conflict21A → P Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q9P0J0 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: 058F608B235FF856

FASTA14416,698
        10         20         30         40         50         60 
MAASKVKQDM PPPGGYGPID YKRNLPRRGL SGYSMLAIGI GTLIYGHWSI MKWNRERRRL 

        70         80         90        100        110        120 
QIEDFEARIA LLPLLQAETD RRTLQMLREN LEEEAIIMKD VPDWKVGESV FHTTRWVPPL 

       130        140 
IGELYGLRTT EEALHASHGF MWYT 

« Hide

References

« Hide 'large scale' references
[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]"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning."
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. expand/collapse author list , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_057049.5. NM_015965.6.
UniGeneHs.534453.

3D structure databases

ProteinModelPortalQ9P0J0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119270. 10 interactions.
DIPDIP-31180N.
IntActQ9P0J0. 6 interactions.
MINTMINT-3077817.

Chemistry

ChEMBLCHEMBL2363065.
DrugBankDB00157. NADH.

PTM databases

PhosphoSiteQ9P0J0.

Polymorphism databases

DMDM20139242.

Proteomic databases

PaxDbQ9P0J0.
PRIDEQ9P0J0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000507754; ENSP00000423673; ENSG00000186010.
GeneID51079.
KEGGhsa:51079.
UCSCuc021uqu.1. human.

Organism-specific databases

CTD51079.
GeneCardsGC19P019626.
H-InvDBHIX0213010.
HGNCHGNC:17194. NDUFA13.
HPAHPA041213.
MIM607464. phenotype.
609435. gene.
neXtProtNX_Q9P0J0.
Orphanet146. Papillary or follicular thyroid carcinoma.
PharmGKBPA142671270.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0062.
HOGENOMHOG000195836.
HOVERGENHBG019074.
InParanoidQ9P0J0.
KOK11353.
PhylomeDBQ9P0J0.
TreeFamTF315182.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeQ9P0J0.
CleanExHS_NDUFA13.
GenevestigatorQ9P0J0.

Family and domain databases

InterProIPR009346. GRIM-19.
[Graphical view]
PANTHERPTHR12966. PTHR12966. 1 hit.
PfamPF06212. GRIM-19. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNDUFA13. human.
GeneWikiNDUFA13.
GenomeRNAi51079.
NextBio53719.
PROQ9P0J0.
SOURCESearch...

Entry information

Entry nameNDUAD_HUMAN
AccessionPrimary (citable) accession number: Q9P0J0
Secondary accession number(s): Q6PKI0, Q9H2L3, Q9Y327
Entry history
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 133 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM