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Ndufaf1 Gene Detail
Summary
  • Symbol
    Ndufaf1
  • Name
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1
  • Synonyms
    2410001M24Rik, CGI-65, CIA30
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916952
    NCBI Gene: 69702
  • Gene Overview
    MyGene.info: NDUFAF1
Location & Maps
more
  • Sequence Map
    Chr2:119655446-119662827 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7382 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 59.97 cM, cytoband E5
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    NDUFAF1, NADH:ubiquinone oxidoreductase complex assembly factor 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NDUFAF1, NADH:ubiquinone oxidoreductase complex assembly factor 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CGI65, CGI-65, CIA30
  • Links
    NCBI Gene ID: 51103
    neXtProt AC: NX_Q9Y375

  • Chr Location
    15q11.2-q21.3; chr15:41387349-41402554 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human NDUFAF1 associations

Human Disease Mouse Models
       Mitochondrial Complex I Deficiency   OMIM: 252010
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotype references
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    1
  • Gene trapped
    11
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Ndufaf1
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016507 VEGA Gene Model | MGI Sequence Detail 7382 C57BL/6J ±  kb
transcript OTTMUST00000039884 VEGA | MGI Sequence Detail 1478 Not Applicable  
polypeptide OTTMUSP00000017788 VEGA | MGI Sequence Detail 328 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    85 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • EC
  • InterPro Domains
    IPR008979 Galactose-binding domain-like
    IPR013857 NADH:ubiquinone oxidoreductase intermediate-associated protein 30
Molecular
Reagents
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  • All nucleic 34
    cDNA 33
    Primer pair 1

    Microarray probesets 4
References
more
  • Summaries
    All 32
    Developmental Gene Expression 1
    Gene Ontology 4
    Phenotypes 10
  • Earliest
    J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory