NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDUFAF4provided by HGNC
Official Full Name: NADH:ubiquinone oxidoreductase complex assembly factor 4provided by HGNC
Primary source: HGNC:HGNC:21034
See related: Ensembl:ENSG00000123545 MIM:611776; AllianceGenome:HGNC:21034
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: My013; C6orf66; HRPAP20; HSPC125; MC1DN15; bA22L21.1
Summary: NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]
Expression: Ubiquitous expression in heart (RPKM 11.9), brain (RPKM 11.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q16.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (96889315..96897891, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (98061115..98069692, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (97337191..97345767, complement)

Chromosome 6 - NC_000006.12 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?

A genetic variant in gene NDUFAF4 confers the risk of non-small cell lung cancer by perturbing hsa-miR-215 binding.
Title: A genetic variant in gene NDUFAF4 confers the risk of non-small cell lung cancer by perturbing hsa-miR-215 binding.
Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.
Title: Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.
A homozygous missense NDUFAF4 variant was identified in a complex I-deficient patient with Leigh syndrome.
Title: NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Specific lack of complex I was detected in thyroid cancers expressing less than 5% of the amount in surrounding non-cancerous tissue.
Title: Lack of complex I is associated with oncocytic thyroid tumours.
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Title: Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Homozygosity mapping of 5 patients from a consanguineous family with infantile mitochondrial encephalomyopathy resulted in the identification of a missense mutation in a conserved residue of the C6ORF66.
Title: C6ORF66 is an assembly factor of mitochondrial complex I.
HRPAP20 and TIMELESS as promising markers of tamoxifen resistance in women with ER alpha-positive breast tumors.
Title: Oligonucleotide microarray analysis of estrogen receptor alpha-positive postmenopausal breast carcinomas: identification of HRPAP20 and TIMELESS as outstanding candidate markers to predict the response to tamoxifen.
observations suggest that HRPAP20 may be an important regulator of breast tumor cell invasion by a CaM-mediated mechanism that leads to increased MMP-9 secretion
Title: HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion.

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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
Mitochondrial complex 1 deficiency, nuclear type 15 MedGen: C4748778 OMIM: 618237 GeneReviews: Not available	Compare labs

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

RH26154 (e-PCR)
- UniSTS:85275

RH102131 (e-PCR)
- UniSTS:96465

SHGC-52655 (e-PCR)
- UniSTS:78834

STS-R50676 (e-PCR)
- UniSTS:44792

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex I assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
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
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4; NADH dehydrogenase (ubiquinone) complex I, assembly factor 4; hormone-regulated proliferation-associated protein of 20 kDa; hormone-regulated proliferation-associated protein, 20 kDa

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.