NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 [Homo sapiens] - Gene

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Summary

Official Symbol: NDUFA13provided by HGNC
Official Full Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13provided by HGNC
Primary source: HGNC:17194
Locus tag: CGI-39
See related: Ensembl:ENSG00000186010; HPRD:09452; MIM:609435; Vega:OTTHUMG00000162211
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: B16.6; CDA016; CGI-39; GRIM19; GRIM-19; FLJ58045; FLJ59191
Summary: This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]

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Genomic context

Location :: 19p13.2

Sequence :: Chromosome: 19; NC_000019.9 (19627019..19639013)

See NDUFA13 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

GRIM-19 plays a critical role not only at the origin but also in the invasive progression of hepatocellular carcinoma.
Title: Depletion of GRIM-19 accelerates hepatocellular carcinoma invasion via inducing EMT and loss of contact inhibition.
GRIM-19 expression was lower in gliomas & negatively correlated with malignancy. Downregulation enhanced cell proliferation & migration, but overexpression did the opposite. GRIM-19 exerts its role through the non-STAT3 signaling pathway.
Title: Downregulation of GRIM-19 promotes growth and migration of human glioma cells.
GRIM-19 function in cancer development
Title: GRIM-19 function in cancer development.
The expressions of survivin and GRIM-19 may be closely correlated with the pathogenesis of prostate cancer.
Title: [Expressions of survivin and GRIM-19 in prostate cancer].
These data suggest that GRIM-19 can block E6/E6AP complex; and synergistically suppress cervical tumor growth with p53.
Title: GRIM-19 disrupts E6/E6AP complex to rescue p53 and induce apoptosis in cervical cancers.
reduced mRNA and protein levels in lung adenocarcinoma tissues
Title: Gene associated with retinoid-interferon-induced mortality-19 suppresses growth of lung adenocarcinoma tumor in vitro and in vivo.
GRIM-19 expression is down-regulated in non-small cell lung cancer.
Title: [Expression and clinical significance of GRIM-19 in non-small cell lung cancer].
Results identify a major role for the N terminus of GRIM-19 in mediating its tumor-suppressive actions.
Title: Identification of a structural motif in the tumor-suppressive protein GRIM-19 required for its antitumor activity.
Alternatively spliced GRIM-19 mRNA is associated with kidney cancer.
Title: Identification of alternatively spliced GRIM-19 mRNA in kidney cancer tissues.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction See all (24)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Thyroid carcinoma, Hurthle cell

MIM: 607464

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_057049.3		STAT3	BIND	PubMed	GRIM-19 interacts with Stat3.
Q9P0J0	Exosome component 6	EXOSC6	HPRD	PubMed
Q9P0J0	P40763	STAT3	HPRD	PubMed
Q9P0J0	Q8IZH2	XRN1	HPRD	PubMed
BioGRID:119270	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119270	BioGRID:112651	STAT3	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:119270	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119270	BioGRID:113185	UBE3A	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Function	Evidence Code	Pubs
ATP binding	NAS Non-traceable Author Statement more info	PubMed
NADH dehydrogenase (ubiquinone) activity	IDA Inferred from Direct Assay more info	PubMed
NADH dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
apoptotic nuclear change	IDA Inferred from Direct Assay more info	PubMed
apoptotic process	IEA Inferred from Electronic Annotation more info
induction of apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
induction of apoptosis by extracellular signals	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
negative regulation of translation	IDA Inferred from Direct Assay more info	PubMed
protein import into nucleus	NAS Non-traceable Author Statement more info	PubMed
reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
respiratory electron transport chain	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	TAS Traceable Author Statement more info
mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
mitochondrial respiratory chain	IDA Inferred from Direct Assay more info	PubMed
mitochondrial respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13

Names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13; CI-B16.6; complex I-B16.6; complex I B16.6 subunit; cell death-regulatory protein GRIM19; cell death regulatory protein GRIM-19; NADH-ubiquinone oxidoreductase B16.6 subunit; gene associated with retinoic and IFN-induced mortality 19 protein; gene associated with retinoic and interferon-induced mortality 19 protein

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013380.1 RefSeqGene

Range

5001..16995

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015965.6 → NP_057049.5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13

Status: REVIEWED

Source sequence(s)

BC009189, BG705222, BM839920

Consensus CDS

CCDS12404.2

UniProtKB/Swiss-Prot

Q9P0J0

Related

ENSP00000423673, OTTHUMP00000221579, ENST00000507754, OTTHUMT00000367916

Conserved Domains (1) summary

pfam06212
Location:2 – 131
Blast Score: 544

GRIM-19; GRIM-19 protein

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p5 Primary Assembly

Range

19627019..19639013

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

19189312..19201238

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC011448.5 (77884..90295)	None
genomic	CH471106.1	EAW84826.1
mRNA	AF261134.1	AAG44670.1
mRNA	AF286697.1	AAG28167.1
mRNA	AK293859.1	BAG57254.1
mRNA	BC000589.2	AAH00589.2
mRNA	BC009189.2	AAH09189.1
mRNA	BG705222.1	None
mRNA	BG724220.1	None
mRNA	BM839920.1	None
mRNA	BP230223.1	None
mRNA	DB450544.1	None