About   Help   FAQ
Ndufaf5 Gene Detail
Summary
  • Symbol
    Ndufaf5
  • Name
    NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
  • Synonyms
    2310003L22Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916737
    NCBI Gene: 69487
Location & Maps
more
  • Sequence Map
    Chr2:140170649-140203689 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      33041 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NDUFAF5, NADH:ubiquinone oxidoreductase complex assembly factor 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NDUFAF5, NADH:ubiquinone oxidoreductase complex assembly factor 5
    Orthology source: HomoloGene
  • Synonyms
    bA526K24.2, C20orf7, dJ842G6.1
  • Links
    NCBI Gene ID: 79133
    neXtProt AC: NX_Q5TEU4

  • Chr Location
    20p12.1; chr20:13785026-13818421 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human NDUFAF5 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
less
  • Phenotype Summary
    9 phenotype references
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    1
  • Gene trapped
    7
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Ndufaf5
  • Incidental Mutations
    APF , CvDC
Gene Ontology
(GO)
Classifications
less
  • 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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015599 VEGA Gene Model | MGI Sequence Detail 33041 C57BL/6J ±  kb
transcript OTTMUST00000037047 VEGA | MGI Sequence Detail 1166 Not Applicable  
polypeptide OTTMUSP00000016616 VEGA | MGI Sequence Detail 343 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    372 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000032801 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
  • EC
  • InterPro Domains
    IPR013216 Methyltransferase type 11
    IPR029063 S-adenosyl-L-methionine-dependent methyltransferase
Molecular
Reagents
less
  • All nucleic 24
    cDNA 24

    Microarray probesets 3
References
more
  • Summaries
    All 30
    Gene Ontology 5
    Phenotypes 9
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:151002 Pagliarini DJ, et al., A mitochondrial protein compendium elucidates complex I disease biology. Cell. 2008 Jul 11;134(1):112-23

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/19/2016
MGI 6.03
The Jackson Laboratory