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

Gene ID: 79133, updated on 13-Apr-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
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Genomic context

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Location:
20p12.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (13785028..13821580)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (13828747..13865323)
105.20220307 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. 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
  2. Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus. Mansukhani SA, et al. Ophthalmology, 2021 Apr. PMID 32918965
  3. 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
  4. Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. Saada A, et al. J Inherit Metab Dis, 2012 Jan. PMID 21607760
  5. 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

See all (37) 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 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
  
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
  
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_2023_10

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

  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

  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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