NDUFA4 NDUFA4 mitochondrial complex associated [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDUFA4provided by HGNC
Official Full Name: NDUFA4 mitochondrial complex associatedprovided by HGNC
Primary source: HGNC:HGNC:7687
See related: Ensembl:ENSG00000189043 MIM:603833; AllianceGenome:HGNC:7687
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: MLRQ; CI-9k; COXFA4; MISTR1; MRCAF1; CI-MLRQ; MC4DN21
Summary: The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in heart (RPKM 150.5), brain (RPKM 62.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p21.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (10931943..10940153, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (11062535..11070743, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (10971570..10979780, complement)

Chromosome 7 - NC_000007.14 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
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?

NDUFA4 promotes the progression of head and neck paraganglioma by inhibiting ferroptosis.
Title: NDUFA4 promotes the progression of head and neck paraganglioma by inhibiting ferroptosis.
NDUFA4 promotes cell proliferation by enhancing oxidative phosphorylation in pancreatic adenocarcinoma.
Title: NDUFA4 promotes cell proliferation by enhancing oxidative phosphorylation in pancreatic adenocarcinoma.
A human iPSC-array-based GWAS identifies a virus susceptibility locus in the NDUFA4 gene and functional variants.
Title: A human iPSC-array-based GWAS identifies a virus susceptibility locus in the NDUFA4 gene and functional variants.
m6A RNA methylation-mediated NDUFA4 promotes cell proliferation and metabolism in gastric cancer.
Title: m6A RNA methylation-mediated NDUFA4 promotes cell proliferation and metabolism in gastric cancer.
Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity.
Title: Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity.
NDUFA4 was identified as a direct target of miR-147b and knockdown of NDUFA4 abolished the oncogenic role of miR-147b inhibitor.
Title: LncRNA MAFG-AS1 promotes the progression of colorectal cancer by sponging miR-147b and activation of NDUFA4.
Results found that NDUFA4 mRNAs are upregulated and associated with oxidative phosphorylation pathway in gastric cancer. Also, NDUFA4 seems to promote the proliferation, reduce apoptosis, and regulate the oxidative phosphorylation pathway in gastric cancer cells.
Title: Long non-coding RNA MIF-AS1 promotes gastric cancer cell proliferation and reduces apoptosis to upregulate NDUFA4.
Findings support reassignment of the NDUFA4 protein to complex IV and suggest that patients with unexplained COX deficiency should be screened for NDUFA4 mutations.
Title: NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex 4 deficiency, nuclear type 21 MedGen: C5436727 OMIM: 619065 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. 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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Markers

NoName (e-PCR)
- UniSTS:486201

RH70516 (e-PCR)
- UniSTS:89941

SHGC-75243 (e-PCR)
- UniSTS:68207

RH36185 (e-PCR)
- UniSTS:2947

Clone Names

FLJ27440, MGC104422, MGC126843, MGC126845

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in cellular respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, cytochrome c to oxygen	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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
part_of respiratory chain complex IV	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex IV	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytochrome c oxidase subunit NDUFA4

Names: Complex I 9kDa subunit; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4; NADH-ubiquinone oxidoreductase MLRQ subunit; complex I-MLRQ; cytochrome c oxidase subunit FA4; mitochondrial respiratory chain associated factor 1; mitochondrial stress response 1

NP_002480.1

EC 1.6.99.3

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.