NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDUFA13provided by HGNC
Official Full Name: NADH:ubiquinone oxidoreductase subunit A13provided by HGNC
Primary source: HGNC:HGNC:17194
See related: Ensembl:ENSG00000186010 MIM:609435; AllianceGenome:HGNC:17194
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; MC1DN28
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]
Expression: Ubiquitous expression in heart (RPKM 200.1), kidney (RPKM 160.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (19516225..19528198)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19653712..19665685)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19627034..19639007)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GRIM-19 deficiency promotes macrophage polarization to the M1 phenotype partly through glycolysis in unexplained recurrent spontaneous abortiondagger.
Title: GRIM-19 deficiency promotes macrophage polarization to the M1 phenotype partly through glycolysis in unexplained recurrent spontaneous abortion†.
GRIM19 deficiency aggravates metabolic disorder and ovarian dysfunction in PCOS.
Title: GRIM19 deficiency aggravates metabolic disorder and ovarian dysfunction in PCOS.
Mitochondrial GRIM-19 loss in parietal cells promotes spasmolytic polypeptide-expressing metaplasia through NLR family pyrin domain-containing 3 (NLRP3)-mediated IL-33 activation via a reactive oxygen species (ROS) -NRF2- Heme oxygenase-1(HO-1)-NF-small ka, CyrillicB axis.
Title: Mitochondrial GRIM-19 loss in parietal cells promotes spasmolytic polypeptide-expressing metaplasia through NLR family pyrin domain-containing 3 (NLRP3)-mediated IL-33 activation via a reactive oxygen species (ROS) -NRF2- Heme oxygenase-1(HO-1)-NF-кB axis.
Grim-19 deficiency promotes decidual macrophage autophagy in recurrent spontaneous abortion.
Title: Grim-19 deficiency promotes decidual macrophage autophagy in recurrent spontaneous abortion.
Decreased expression of GRIM-19 induces autophagy through the AMPK/ULK1 signaling pathway during adenomyosisdagger.
Title: Decreased expression of GRIM-19 induces autophagy through the AMPK/ULK1 signaling pathway during adenomyosis†.
GRIM19 downregulation-induced pyroptosis of macrophages through NLRP3 pathway in adenomyosis.
Title: GRIM19 downregulation-induced pyroptosis of macrophages through NLRP3 pathway in adenomyosis.
GRIM-19 is a target of mycobacterial Zn(2+) metalloprotease 1 and indispensable for NLRP3 inflammasome activation.
Title: GRIM-19 is a target of mycobacterial Zn(2+) metalloprotease 1 and indispensable for NLRP3 inflammasome activation.
GRIM-19 inhibits proliferation and induces apoptosis in a p53-dependent manner in colorectal cancer cells through the SIRT7/PCAF/MDM2 axis.
Title: GRIM-19 inhibits proliferation and induces apoptosis in a p53-dependent manner in colorectal cancer cells through the SIRT7/PCAF/MDM2 axis.
Interaction of M2 macrophages and endometrial cells induces downregulation of GRIM-19 in endometria of adenomyosis.
Title: Interaction of M2 macrophages and endometrial cells induces downregulation of GRIM-19 in endometria of adenomyosis.
[Mechanism of hepatocyte mitochondrial NDUFA13 deficiency-induced liver fibrogenesis: the role of abnormal hepatic stellate cell activation].
Title: [Mechanism of hepatocyte mitochondrial NDUFA13 deficiency-induced liver fibrogenesis: the role of abnormal hepatic stellate cell activation].

Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hurthle cell carcinoma of thyroid MedGen: C0749424 OMIM: 607464 GeneReviews: Not available	Compare labs
Mitochondrial complex 1 deficiency, nuclear type 28 MedGen: C4748827 OMIM: 618249 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	NAS Non-traceable Author Statement more info	PubMed
enables endopeptidase activator activity	IC Inferred by Curator more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to interferon-beta	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed
involved_in extrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of execution phase of apoptosis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein insertion into mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex I	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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

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

NP_057049.5

EC 7.1.1.2

NCBI Reference Sequences (RefSeq)

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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.