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

Gene ID: 79133, updated on 22-Jun-2019

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

Genomic context

See NDUFAF5 in Genome Data Viewer
Location:
20p12.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (13785026..13821580)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (13765672..13799067)

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
methylation IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-arginine hydroxylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extrinsic component of mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
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)

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
    cl28099
    Location:2153
    SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
  3. NM_001352406.2NP_001339335.1  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]
  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_001352408.1NP_001339337.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL109657, AL161659, CN256713
    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_029377.1 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
    Related
    ENST00000378081.9
  2. NR_147978.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK025977, AL109657, AL161659
  3. NR_147979.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK025977, AL109657, AL161659
  4. NR_147980.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK025977, AL109657, AL161659
  5. NR_147981.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK025977, AL109657, AL161659
  6. NR_147982.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK025977, AL109657, AL161659
  7. NR_147983.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK025977, AL109657, AL161659

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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
    cl28099
    Location:2153
    SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
  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
    cl28099
    Location:2153
    SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]

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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