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

Gene ID: 4700, updated on 7-Jun-2020

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
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

Genomic context

See NDUFA6 in Genome Data Viewer
Location:
22q13.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (42085526..42090772, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42481530..42486888, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 13 pseudogene 1 Neighboring gene PH domain containing endocytic trafficking adaptor 2 Neighboring gene single-pass membrane protein with aspartate rich tail 1 Neighboring gene NDUFA6 divergent transcript Neighboring gene OLA1 pseudogene 1 Neighboring gene uncharacterized LOC105373047

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mitochondrial complex 1 deficiency, nuclear type 33
MedGen: C4748840 OMIM: 618253 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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)

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_002490.6NP_002481.3  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6

    Status: REVIEWED

    Source sequence(s)
    BC002772, CR456529
    Consensus CDS
    CCDS33656.1
    Related
    ENSP00000418842.3, ENST00000498737.8
    Conserved Domains (1) summary
    pfam05347
    Location:3092
    Complex1_LYR; Complex 1 protein (LYR family)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_009646207.1 Reference GRCh38.p13 PATCHES

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315971.2 Reference GRCh38.p13 ALT_REF_LOCI_1

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NW_004504305.1 Reference GRCh38.p13 ALT_REF_LOCI_2

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

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_187682.1 Reference GRCh38.p13 ALT_REF_LOCI_3

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