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    NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 [ Homo sapiens (human) ]

    Gene ID: 4726, updated on 8-Jul-2021

    Summary

    Official Symbol
    NDUFS6provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit S6provided by HGNC
    Primary source
    HGNC:HGNC:7713
    See related
    Ensembl:ENSG00000145494 MIM:603848
    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
    MC1DN9; CI-13kA; CI13KDA; CI-13kD-A
    Summary
    This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in colon (RPKM 56.7), kidney (RPKM 56.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NDUFS6 in Genome Data Viewer
    Location:
    5p15.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (1801407..1816048)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1801521..1816162)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374614 Neighboring gene microRNA 4277 Neighboring gene uncharacterized LOC101929003 Neighboring gene mitochondrial ribosomal protein L36 Neighboring gene VISTA enhancer hs2567 Neighboring gene long intergenic non-protein coding RNA 2116

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of NADH dehydrogenase (ubiquinone) Fe-S protein 6 (NADH-coenzyme Q reductase; NDUFS6) 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
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables electron transfer activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial electron transport, NADH to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    part_of mitochondrial respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
    NADH-ubiquinone oxidoreductase 13 kDa-A subunit
    NADH:ubiquinone oxidoreductase NDUFS6 subunit
    complex I 13kDa subunit A
    complex I, mitochondrial respiratory chain, 13-kD subunit
    NP_004544.1

    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_013354.1 RefSeqGene

      Range
      5026..19667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004553.6NP_004544.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial precursor

      See identical proteins and their annotated locations for NP_004544.1

      Status: REVIEWED

      Source sequence(s)
      BC038664
      Consensus CDS
      CCDS3866.1
      UniProtKB/Swiss-Prot
      O75380
      UniProtKB/TrEMBL
      Q6IBC4
      Related
      ENSP00000274137.6, ENST00000274137.10
      Conserved Domains (1) summary
      pfam10276
      Location:82119
      zf-CHCC; Zinc-finger domain

    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_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      1801407..1816048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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