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

    Gene ID: 69487, updated on 25-May-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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    See Ndufaf5 in Genome Data Viewer
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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