NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDUFA6provided by HGNC
Official Full Name: NADH:ubiquinone oxidoreductase subunit A6provided by HGNC
Primary source: HGNC:HGNC:7690
See related: Ensembl:ENSG00000184983 MIM:602138; AllianceGenome:HGNC:7690
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: B14; LYRM6; CI-B14; MC1DN33; NADHB14
Summary: This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]
Expression: Ubiquitous expression in heart (RPKM 63.4), kidney (RPKM 42.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (42085526..42090772, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (42565116..42570369, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (42481530..42486776, complement)

Chromosome 22 - NC_000022.11 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?

A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression.
Title: A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

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 33 MedGen: C4748840 OMIM: 618253 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (NDUFA6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A008Y37 (e-PCR)
- UniSTS:77313

RH78147 (e-PCR)
- UniSTS:33313

WI-20966 (e-PCR)
- UniSTS:44845

RH75430 (e-PCR)
- UniSTS:87010

RH103955 (e-PCR)
- UniSTS:98280

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NADH dehydrogenase (ubiquinone) activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic 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 respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in response to oxidative stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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
part_of mitochondrial respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial respiratory chain complex I	IPI Inferred from Physical Interaction more info	PubMed
part_of mitochondrial respiratory chain complex I	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6

Names: Complex I-B14; LYR motif-containing protein 6; NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 6; NADH-ubiquinone oxidoreductase B14 subunit

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.

Genomic

NG_051973.1 RefSeqGene

Range

5184..10430

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002490.6 → NP_002481.3 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6

Status: REVIEWED

Source sequence(s)

BC002772, CR456529

Consensus CDS

CCDS33656.2

UniProtKB/Swiss-Prot

B2RE54, O43675, P56556, Q6FGW0, Q6IBT8, Q6IC39

UniProtKB/TrEMBL

A0A2Y9D025

Related

ENSP00000418842.3, ENST00000498737.8

Conserved Domains (1) summary

pfam05347
Location:30 → 92

Complex1_LYR; Complex 1 protein (LYR family)