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

Gene ID: 69702, updated on 2-Nov-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, Nov 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 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/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/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/TrEMBL
    A2AQ17

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

    Status: VALIDATED

    Source sequence(s)
    AL844536

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

    Status: VALIDATED

    Source sequence(s)
    AL844536

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

    Status: VALIDATED

    Source sequence(s)
    AL844536

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

    Status: VALIDATED

    Source sequence(s)
    AL844536

  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/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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