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    Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 69702, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ndufaf1provided by MGI
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 1provided by MGI
    Primary source
    MGI:MGI:1916952
    See related
    Ensembl:ENSMUSG00000027305 AllianceGenome:MGI:1916952
    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
    CIA30; CGI-65; 2410001M24Rik
    Summary
    Predicted to enable unfolded protein binding activity. Predicted to be involved in chaperone-mediated protein complex assembly; mitochondrial electron transport, NADH to ubiquinone; and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Is expressed in 2-cell stage embryo and embryo. Human ortholog(s) of this gene implicated in nuclear type mitochondrial complex I deficiency 11. Orthologous to human NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver E14 (RPKM 7.1), heart adult (RPKM 6.2) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ndufaf1 in Genome Data Viewer
    Location:
    2 E5; 2 59.97 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (119485927..119493302, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (119655446..119662839, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr2:119444191-119444492 Neighboring gene Opa interacting protein 5 Neighboring gene nucleolar and spindle associated protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E3395 Neighboring gene nuclear encoded rRNA 5S 204 Neighboring gene STARR-positive B cell enhancer ABC_E9201 Neighboring gene H3 histone, family 3C Neighboring gene RTF1, Paf1/RNA polymerase II complex component Neighboring gene STARR-positive B cell enhancer ABC_E7852 Neighboring gene STARR-seq mESC enhancer starr_05489

    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. DDX1 vesicles control calcium-dependent mitochondrial activity in mouse embryos. Wang Y, et al. Nat Commun, 2022 Jul 1. PMID 35778392, Free PMC Article
    2. CIA30 complex I assembly factor: a candidate for human complex I deficiency? Janssen R, et al. Hum Genet, 2002 Mar. PMID 11935339
    3. Development of an efficient screening system to identify novel bone metabolism-related genes using the exchangeable gene trap mutagenesis mouse models. Kurogi S, et al. Sci Rep, 2017 Jan 20. PMID 28106071, Free PMC Article
    4. The interactome of intact mitochondria by cross-linking mass spectrometry provides evidence for coexisting respiratory supercomplexes. Liu F, et al. Mol Cell Proteomics, 2018 Feb. PMID 29222160, Free PMC Article
    5. Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette. Taniwaki T, et al. Dev Growth Differ, 2005 Apr. PMID 15840001

    See all (27) 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 (3) 
    • Gene trapped (1) 
    • Targeted (1) 

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    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 mitochondrial respiratory chain complex I assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial matrix 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
    complex I intermediate-associated protein 30, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1
    NADH dehydrogenase (ubiquinone) 1 assembly factor 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_001356467.4 → NP_001343396.2  complex I intermediate-associated protein 30, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL844536
      Consensus CDS
      CCDS38207.1
      UniProtKB/Swiss-Prot
      Q8VEI8, Q9CWX2
      UniProtKB/TrEMBL
      A2AQ17
      Related
      ENSMUSP00000106426.2, ENSMUST00000110802.8

    2. NM_001406498.1 → NP_001393427.1  complex I intermediate-associated protein 30, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL844536
      UniProtKB/Swiss-Prot
      Q8VEI8, Q9CWX2
      UniProtKB/TrEMBL
      A2AQ17

    3. NM_001406499.1 → NP_001393428.1  complex I intermediate-associated protein 30, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL844536
      UniProtKB/Swiss-Prot
      Q8VEI8, Q9CWX2
      UniProtKB/TrEMBL
      A2AQ17

    4. NM_001406500.1 → NP_001393429.1  complex I intermediate-associated protein 30, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL844536
      UniProtKB/Swiss-Prot
      Q8VEI8, Q9CWX2

    5. NM_001406501.1 → NP_001393430.1  complex I intermediate-associated protein 30, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL844536
      UniProtKB/Swiss-Prot
      Q8VEI8, Q9CWX2

    6. NM_001406502.1 → NP_001393431.1  complex I intermediate-associated protein 30, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL844536
      UniProtKB/Swiss-Prot
      Q8VEI8, Q9CWX2

    7. NM_001406503.1 → NP_001393432.1  complex I intermediate-associated protein 30, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL844536
      UniProtKB/Swiss-Prot
      Q8VEI8, Q9CWX2

    8. NM_027175.7 → NP_081451.4  complex I intermediate-associated protein 30, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL844536
      Consensus CDS
      CCDS38207.1
      UniProtKB/Swiss-Prot
      Q8VEI8, Q9CWX2
      UniProtKB/TrEMBL
      A2AQ17
      Related
      ENSMUSP00000106425.2, ENSMUST00000110801.8

    RNA

    1. NR_176093.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL844536

    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
      119485927..119493302 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CWX2.2 GenPept UniProtKB/Swiss-Prot:Q9CWX2

    Gene LinkOut

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

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