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

Gene ID: 4700, updated on 3-Nov-2024

Summary

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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
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Genomic context

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See NDUFA6 in Genome Data Viewer
Location:
22q13.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42085526..42090772, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42565116..42570369, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42481530..42486776, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42473646-42474208 Neighboring gene small nucleolar RNA, C/D box 13 pseudogene 1 Neighboring gene PH domain containing endocytic trafficking adaptor 2 Neighboring gene Sharpr-MPRA regulatory region 7943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42475449-42476221 Neighboring gene single-pass membrane protein with aspartate rich tail 1 Neighboring gene NDUFA6 divergent transcript Neighboring gene OLA1 pseudogene 1 Neighboring gene cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. Alston CL, et al. Am J Hum Genet, 2018 Oct 4. PMID 30245030, Free PMC Article
  2. A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression. Li Y, et al. Mol Psychiatry, 2021 Nov. PMID 33931730
  3. In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes. Dunbar DR, et al. Cytogenet Cell Genet, 1997. PMID 9345899
  4. Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping. Emahazion T, et al. Cytogenet Cell Genet, 1998. PMID 9763676
  5. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. Ton C, et al. Biochem Biophys Res Commun, 1997 Dec 18. PMID 9425316

See all (63) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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
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EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in response to oxidative stress IBA
Inferred from Biological aspect of Ancestor
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 
located_in mitochondrion HTP 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 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

  1. NG_051973.1 RefSeqGene

    Range
    5184..10430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    42085526..42090772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_009646207.1 Reference GRCh38.p14 PATCHES

    Range
    477..5733 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315971.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    7871..13117 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NW_004504305.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    7871..13117 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_187682.1 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    7871..13117 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    42565116..42570369 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56556.4 GenPept UniProtKB/Swiss-Prot:P56556

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