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

    Gene ID: 79133, updated on 14-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:15899
    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
    mouse all
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    Genomic context

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    See NDUFAF5 in Genome Data Viewer
    Location:
    20p12.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (13785028..13821580)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (13828747..13865323)
    RS_2024_09 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 mitochondrial ribosomal protein S36 pseudogene 6 Neighboring gene NANOG hESC enhancer GRCh37_chr20:13516637-13517168 Neighboring gene Sharpr-MPRA regulatory region 15076 Neighboring gene Sharpr-MPRA regulatory region 9064 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:13618936-13619436 Neighboring gene Sharpr-MPRA regulatory region 128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17552 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:13765895-13766584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12680 Neighboring gene ESF1 nucleolar pre-rRNA processing protein homolog Neighboring gene SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase Neighboring gene tRNA-Glu (CTC) 10-1 Neighboring gene RNA, U6 small nuclear 278, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype. Brabbing-Goldstein D, et al. Ultrasound Obstet Gynecol, 2024 Mar. PMID 37718619
    2. Mitochondrial Factor C20orf7 Facilitates the EMT-Mediated Cancer Cell Migration and the Proliferation of Colon Cancer In Vitro and In Vivo. Liu HH, et al. Genes (Basel), 2022 Nov 14. PMID 36421786, Free PMC Article
    3. Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5. Chen PS, et al. Mov Disord, 2023 Dec. PMID 37752895
    4. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. Gerards M, et al. J Med Genet, 2010 Aug. PMID 19542079, Free PMC Article
    5. Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes. Simon MT, et al. Mol Genet Metab, 2019 Jan. PMID 30473481, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype.
      Title: Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype.
    2. Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
      Title: Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
    3. Mitochondrial Factor C20orf7 Facilitates the EMT-Mediated Cancer Cell Migration and the Proliferation of Colon Cancer In Vitro and In Vivo.
      Title: Mitochondrial Factor C20orf7 Facilitates the EMT-Mediated Cancer Cell Migration and the Proliferation of Colon Cancer In Vitro and In Vivo.
    4. Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus.
      Title: Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus.
    5. Our report adds significant new information to the mutational spectrum of NDUFAF5, further delineating the phenotypic heterogeneity of this mitochondrial defect.
      Title: Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
    6. However, similar to another family member, RdmB, it catalyzes the introduction of a hydroxyl group, in the case of NDUFAF5, into Arg-73 in the NDUFS7 subunit of human complex I
      Title: NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I.
    7. analysis of the combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
      Title: Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
    8. A new cause of Leigh syndrome can be a defect in early complex I assembly due to C20orf7 mutations.
      Title: Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. C20orf7 is crucial in the assembly of complex I and mutations in C20orf7 cause mitochondrial disease
      Title: Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 16
    MedGen: C4748785 OMIM: 618238 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22324, MGC90272

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables S-adenosylmethionine-dependent methyltransferase activity IEA
    Inferred from Electronic Annotation
    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
    		  
    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 matrix side of mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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_047296425.1
    XP_047296426.1
    XP_047296427.1
    XP_047296428.1
    XP_047296429.1
    XP_054179953.1
    XP_054179954.1
    XP_054179955.1
    XP_054179956.1
    XP_054179957.1
    XP_054179958.1
    XP_054179959.1

    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_015811.2 RefSeqGene

      Range
      5002..41554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039375.3 → NP_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:74 → 282
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]

    2. NM_001352403.2 → NP_001339332.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659
      Conserved Domains (1) summary
      TIGR02072
      Location:2 → 153
      BioC; malonyl-acyl carrier protein O-methyltransferase BioC

    3. NM_001352406.2 → NP_001339335.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659

    4. NM_001352407.2 → NP_001339336.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AK025977, AL109657, AL161659
      Conserved Domains (1) summary
      cl28099
      Location:2 → 123
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]

    5. NM_001352408.2 → NP_001339337.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL109657, AL161659, CN256713
      UniProtKB/TrEMBL
      B3KR61
      Related
      ENSP00000437325.1, ENST00000378081.9
      Conserved Domains (1) summary
      cl28099
      Location:74 → 229
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]

    6. NM_024120.5 → NP_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
      A8K166, Q5TEU4, Q6GPH3, Q9H6F4
      Related
      ENSP00000367346.5, ENST00000378106.10
      Conserved Domains (2) summary
      TIGR02072
      Location:74 → 310
      BioC; malonyl-acyl carrier protein O-methyltransferase BioC
      pfam08241
      Location:94 → 185
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      13785028..13821580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723624.3 → XP_006723687.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X4

      See identical proteins and their annotated locations for XP_006723687.1

      Conserved Domains (1) summary
      TIGR02072
      Location:2 → 153
      BioC; malonyl-acyl carrier protein O-methyltransferase BioC

    2. XM_047440469.1 → XP_047296425.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KR61

    3. XM_047440470.1 → XP_047296426.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X3

      Related
      ENST00000481249.5

    4. XM_011529342.3 → XP_011527644.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X2

      Conserved Domains (1) summary
      pfam08241
      Location:94 → 185
      Methyltransf_11; Methyltransferase domain

    5. XM_047440472.1 → XP_047296428.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X5

    6. XM_047440471.1 → XP_047296427.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X4

    7. XM_047440473.1 → XP_047296429.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X5

    RNA

    1. XR_937140.3 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791811.1 Reference GRCh38.p14 PATCHES

      Range
      1699..30131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      13828747..13865323
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323981.1 → XP_054179956.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X4

    2. XM_054323978.1 → XP_054179953.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KR61

    3. XM_054323980.1 → XP_054179955.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X3

    4. XM_054323979.1 → XP_054179954.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X2

    5. XM_054323983.1 → XP_054179958.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X5

    6. XM_054323982.1 → XP_054179957.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X4

    7. XM_054323984.1 → XP_054179959.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X5

    RNA

    1. XR_008485298.1 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TEU4.1 GenPept UniProtKB/Swiss-Prot:Q5TEU4

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