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    NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 [ Homo sapiens (human) ]

    Gene ID: 29078, updated on 8-Jul-2021

    Summary

    Official Symbol
    NDUFAF4provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 4provided by HGNC
    Primary source
    HGNC:HGNC:21034
    See related
    Ensembl:ENSG00000123545 MIM:611776
    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
    My013; C6orf66; HRPAP20; HSPC125; MC1DN15; bA22L21.1
    Summary
    NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in heart (RPKM 11.9), brain (RPKM 11.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NDUFAF4 in Genome Data Viewer
    Location:
    6q16.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (96889315..96897891, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (97337191..97345767, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 6 Neighboring gene G protein-coupled receptor 63 Neighboring gene kelch like family member 32 Neighboring gene RNA, 7SL, cytoplasmic 509, pseudogene Neighboring gene VISTA enhancer hs676

    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?

    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 calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4
    NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
    hormone-regulated proliferation-associated protein of 20 kDa
    hormone-regulated proliferation-associated protein, 20 kDa

    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_013379.1 RefSeqGene

      Range
      5001..13577
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014165.4NP_054884.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

      See identical proteins and their annotated locations for NP_054884.1

      Status: REVIEWED

      Source sequence(s)
      AL159985, BC018802, DB253189
      Consensus CDS
      CCDS5037.1
      UniProtKB/Swiss-Prot
      Q9P032
      Related
      ENSP00000358272.4, ENST00000316149.8
      Conserved Domains (1) summary
      pfam06784
      Location:2167
      UPF0240; Uncharacterized protein family (UPF0240)

    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_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      96889315..96897891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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