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    NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 [ Homo sapiens (human) ]

    Gene ID: 79133, updated on 2-Aug-2021

    Summary

    Official Symbol
    NDUFAF5provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 5provided by HGNC
    Primary source
    HGNC:HGNC:15899
    See related
    Ensembl:ENSG00000101247 MIM:612360
    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
    C20orf7; MC1DN16; dJ842G6.1; bA526K24.2
    Summary
    The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in bone marrow (RPKM 2.6), heart (RPKM 1.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NDUFAF5 in Genome Data Viewer
    Location:
    20p12.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (13785026..13821580)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (13765674..13802226)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene taspase 1 Neighboring gene Sharpr-MPRA regulatory region 9064 Neighboring gene ESF1 nucleolar pre-rRNA processing protein homolog Neighboring gene SEL1L2 adaptor subunit of ERAD E3 ligase Neighboring gene tRNA-Glu (CTC) 10-1 Neighboring gene RNA, U6 small nuclear 278, pseudogene

    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

    Clone Names

    • FLJ22324, MGC90272

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    involved_in peptidyl-arginine hydroxylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extrinsic component of mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    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
    arginine-hydroxylase NDUFAF5, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
    probable methyltransferase C20orf7, mitochondrial
    putative methyltransferase NDUFAF5
    NP_001034464.1
    NP_001339332.1
    NP_001339335.1
    NP_001339336.1
    NP_001339337.1
    NP_077025.2
    XP_006723687.1
    XP_011527644.1
    XP_024307767.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_015811.1 RefSeqGene

      Range
      5001..38396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039375.3NP_001034464.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001034464.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK025977, AL109657, BC073158, DA289766
      Consensus CDS
      CCDS33441.1
      UniProtKB/Swiss-Prot
      Q5TEU4
      Related
      ENSP00000420497.1, ENST00000463598.1
      Conserved Domains (1) summary
      cl28099
      Location:74282
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
    2. NM_001352403.2NP_001339332.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659
      Conserved Domains (1) summary
      TIGR02072
      Location:2153
      BioC; malonyl-acyl carrier protein O-methyltransferase BioC
    3. NM_001352406.2NP_001339335.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659
    4. NM_001352407.2NP_001339336.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659
      Conserved Domains (1) summary
      cl28099
      Location:2123
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
    5. NM_001352408.2NP_001339337.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL109657, AL161659, CN256713
      Related
      ENSP00000437325.1, ENST00000378081.9
      Conserved Domains (1) summary
      cl28099
      Location:74229
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
    6. NM_024120.5NP_077025.2  arginine-hydroxylase NDUFAF5, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_077025.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK025977, AL109657, BC005984, DA289766
      Consensus CDS
      CCDS13118.1
      UniProtKB/Swiss-Prot
      Q5TEU4
      Related
      ENSP00000367346.5, ENST00000378106.10
      Conserved Domains (2) summary
      TIGR02072
      Location:74310
      BioC; malonyl-acyl carrier protein O-methyltransferase BioC
      pfam08241
      Location:94185
      Methyltransf_11; Methyltransferase domain

    RNA

    1. NR_029377.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA789132, AK025977, AK091060, AL109657, DA289766
    2. NR_147978.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659
    3. NR_147979.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659
    4. NR_147980.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659
    5. NR_147981.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659
    6. NR_147982.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659
    7. NR_147983.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659

    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_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      13785026..13821580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723624.2XP_006723687.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_006723687.1

      Conserved Domains (1) summary
      TIGR02072
      Location:2153
      BioC; malonyl-acyl carrier protein O-methyltransferase BioC
    2. XM_011529342.2XP_011527644.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam08241
      Location:94185
      Methyltransf_11; Methyltransferase domain
    3. XM_024451999.1XP_024307767.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X2

      Conserved Domains (1) summary
      TIGR02072
      Location:2153
      BioC; malonyl-acyl carrier protein O-methyltransferase BioC

    RNA

    1. XR_001754396.1 RNA Sequence

    2. XR_430269.3 RNA Sequence

    3. XR_937140.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199052.1: Suppressed sequence

      Description
      NM_199052.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay candidate.
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