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Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 [ Mus musculus (house mouse) ]

Gene ID: 69487, updated on 5-Mar-2024

Summary

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Official Symbol
Ndufaf5provided by MGI
Official Full Name
NADH:ubiquinone oxidoreductase complex assembly factor 5provided by MGI
Primary source
MGI:MGI:1916737
See related
Ensembl:ENSMUSG00000027384 AllianceGenome:MGI:1916737
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
2310003L22Rik
Summary
Predicted to enable methyltransferase activity and oxidoreductase activity. Predicted to be involved in mitochondrial respiratory chain complex I assembly and peptidyl-arginine hydroxylation. Predicted to act upstream of or within methylation. Located in mitochondrion. Human ortholog(s) of this gene implicated in nuclear type mitochondrial complex I deficiency 16. Orthologous to human NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in cerebellum adult (RPKM 6.1), CNS E18 (RPKM 5.8) and 26 other tissues See more
Orthologs
human all
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Genomic context

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Location:
2 F3; 2 69.2 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (140012504..140047172)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (140170584..140218965)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_05842 Neighboring gene STARR-positive B cell enhancer ABC_E4504 Neighboring gene ribosomal protein S19, pseudogene 7 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:139996213-139996396 Neighboring gene STARR-seq mESC enhancer starr_05846 Neighboring gene STARR-seq mESC enhancer starr_05847 Neighboring gene predicted gene, 52594 Neighboring gene ESF1 nucleolar pre-rRNA processing protein homolog Neighboring gene sel-1 suppressor of lin-12-like 2 (C. elegans) Neighboring gene STARR-positive B cell enhancer mm9_chr2:140253034-140253335 Neighboring gene mono-ADP ribosylhydrolase 2 Neighboring gene predicted gene, 23846

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
  2. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808
  3. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
  4. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
  5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 

Pathways from PubChem

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General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables S-adenosylmethionine-dependent methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
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 transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within 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 ISO
Inferred from Sequence Orthology
more info
  
involved_in peptidyl-arginine hydroxylation ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in matrix side of mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

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 homolog, mitochondrial
putative methyltransferase NDUFAF5
NP_081369.2
XP_011238070.1
XP_030107912.1
XP_030107913.1
XP_036018430.1

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.

mRNA and Protein(s)

  1. NM_027093.4 → NP_081369.2  arginine-hydroxylase NDUFAF5, mitochondrial precursor

    See identical proteins and their annotated locations for NP_081369.2

    Status: VALIDATED

    Source sequence(s)
    AK009123, AL844528, BY242834, CD363717
    Consensus CDS
    CCDS16804.2
    UniProtKB/Swiss-Prot
    A2APY7, Q9D7L6
    Related
    ENSMUSP00000035325.5, ENSMUST00000044825.5
    Conserved Domains (2) summary
    TIGR02072
    Location:93 → 310
    BioC; malonyl-acyl carrier protein O-methyltransferase BioC
    pfam08241
    Location:94 → 185
    Methyltransf_11; Methyltransferase domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    140012504..140047172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011239768.3 → XP_011238070.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X3

    Conserved Domains (1) summary
    TIGR02072
    Location:93 → 282
    BioC; malonyl-acyl carrier protein O-methyltransferase BioC

  2. XM_030252053.2 → XP_030107913.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X2

    Conserved Domains (1) summary
    TIGR02072
    Location:2 → 123
    BioC; malonyl-acyl carrier protein O-methyltransferase BioC

  3. XM_030252052.2 → XP_030107912.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X1

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

  4. XM_036162537.1 → XP_036018430.1  arginine-hydroxylase NDUFAF5, mitochondrial isoform X2

    Conserved Domains (1) summary
    TIGR02072
    Location:2 → 123
    BioC; malonyl-acyl carrier protein O-methyltransferase BioC

RNA

  1. XR_003953715.2 RNA Sequence

  2. XR_004940725.1 RNA Sequence

  3. XR_003953716.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2APY7.1 GenPept UniProtKB/Swiss-Prot:A2APY7

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