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Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 [ Mus musculus (house mouse) ]

Gene ID: 75597, updated on 28-Oct-2024

Summary

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Official Symbol
Ndufaf2provided by MGI
Official Full Name
NADH:ubiquinone oxidoreductase complex assembly factor 2provided by MGI
Primary source
MGI:MGI:1922847
See related
Ensembl:ENSMUSG00000068184 AllianceGenome:MGI:1922847
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
mimitin; Ndufa12l; 1810058I14Rik
Summary
Acts upstream of or within mitochondrial respiratory chain complex I assembly and negative regulation of insulin secretion involved in cellular response to glucose stimulus. Predicted to be located in membrane. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in nuclear type mitochondrial complex I deficiency 10. Orthologous to human NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Broad expression in testis adult (RPKM 15.4), CNS E11.5 (RPKM 15.4) and 22 other tissues See more
Orthologs
human all
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Genomic context

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See Ndufaf2 in Genome Data Viewer
Location:
13 D2.1; 13 59.63 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (108189123..108295189, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (108052589..108158652, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41055 Neighboring gene STARR-positive B cell enhancer ABC_E8544 Neighboring gene STARR-seq mESC enhancer starr_35592 Neighboring gene small integral membrane protein 15 Neighboring gene STARR-positive B cell enhancer ABC_E7278 Neighboring gene predicted gene, 52057 Neighboring gene STARR-positive B cell enhancer mm9_chr13:108943188-108943489 Neighboring gene STARR-positive B cell enhancer ABC_E5415 Neighboring gene excision repaiross-complementing rodent repair deficiency, complementation group 8 Neighboring gene STARR-seq mESC enhancer starr_35596 Neighboring gene ELOVL fatty acid elongase 7 Neighboring gene predicted gene, 32376

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. DM-20 mRNA is expressed during the embryonic development of the nervous system of the mouse. Timsit SG, et al. J Neurochem, 1992 Mar. PMID 1737990
  2. A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma. Tsuneoka M, et al. J Biol Chem, 2005 May 20. PMID 15774466
  3. Effects of the novel mitochondrial protein mimitin in insulin-secreting cells. Hanzelka K, et al. Biochem J, 2012 Aug 1. PMID 22587331
  4. The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress. Schlehe JS, et al. Neurobiol Dis, 2013 Oct. PMID 23702311, Free PMC Article
  5. NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. Adjobo-Hermans MJW, et al. Biochim Biophys Acta Bioenerg, 2020 Aug 1. PMID 32335026

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.
    Title: NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.
  2. These data suggest that Ndufaf2, unlike other Complex-1 assembly factors, may be more accurately described as a chaperone involved in proper folding during Complex-1 assembly, since it is dispensable for Complex-1 maturation but not its proper function.
    Title: The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress.
  3. Mimitin overexpression increased basal and glucose-induced insulin secretion and prevented cytokine-mediated suppression of insulin secretion. Mimitin knockdown in MIN6 cells had opposite effects to those observed after overexpression.
    Title: Effects of the novel mitochondrial protein mimitin in insulin-secreting cells.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (2)  1 citation

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 protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in mitochondrial respiratory chain complex I assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial respiratory chain complex I assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of insulin secretion involved in cellular response to glucose stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
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
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Names
MMTN
Myc-induced mitochondria protein
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
NDUFA12-like protein
mimitin, mitochondrial
myc-induced mitochondrial protein

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_001127346.2 → NP_001120818.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform 1

    See identical proteins and their annotated locations for NP_001120818.1

    Status: VALIDATED

    Source sequence(s)
    AC103379, CT025566
    Consensus CDS
    CCDS49357.1
    UniProtKB/Swiss-Prot
    Q14A56, Q59J78, Q80VX9
    UniProtKB/TrEMBL
    Q3TLI6
    Related
    ENSMUSP00000130532.2, ENSMUST00000163558.3
    Conserved Domains (1) summary
    cl01534
    Location:23 → 94
    NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

  2. NM_001360140.2 → NP_001347069.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC103379, CT025566
    Conserved Domains (1) summary
    cl01534
    Location:23 → 84
    NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

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_000079.7 Reference GRCm39 C57BL/6J

    Range
    108189123..108295189 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036158205.1 → XP_036014098.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform X1

    UniProtKB/Swiss-Prot
    Q14A56, Q59J78, Q80VX9
    UniProtKB/TrEMBL
    Q3TLI6
    Conserved Domains (1) summary
    cl01534
    Location:23 → 94
    NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

  2. XM_030247443.2 → XP_030103303.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform X3

    UniProtKB/TrEMBL
    A0A286YE33
    Related
    ENSMUSP00000153480.2, ENSMUST00000223734.2
    Conserved Domains (1) summary
    cl01534
    Location:23 → 73
    NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

  3. XM_030247442.2 → XP_030103302.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform X2

    Conserved Domains (1) summary
    cl01534
    Location:23 → 90
    NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q59J78.1 GenPept UniProtKB/Swiss-Prot:Q59J78

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