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

    Gene ID: 4700, updated on 8-Jul-2021

    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
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    Genomic context

    See NDUFA6 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (42085526..42090772, complement)
    105.20201022 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 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
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Mitochondrial complex 1 deficiency, nuclear type 33
    MedGen: C4748840 OMIM: 618253 GeneReviews: Not available
    Compare labs

    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

    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)

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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_002490.6NP_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 109.20210514

    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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