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

Summary

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, Dec 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

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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:492387

C86051 (e-PCR)
- UniSTS:180598

D13Mit149 (e-PCR), detects polymorphism
- UniSTS:126971

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)

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
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

NC_000079.7 Reference GRCm39 C57BL/6J

Range

108189123..108295189 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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