Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndufa12provided by MGI
Official Full Name: NADH:ubiquinone oxidoreductase subunit A12provided by MGI
Primary source: MGI:MGI:1913664
See related: Ensembl:ENSMUSG00000020022 AllianceGenome:MGI:1913664
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: CIB17.2; CI-B17.2; 2410011G03Rik
Summary: Predicted to be involved in mitochondrial ATP synthesis coupled electron transport and response to oxidative stress. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and skeleton. Human ortholog(s) of this gene implicated in nuclear type mitochondrial complex I deficiency 23. Orthologous to human NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart adult (RPKM 187.5), kidney adult (RPKM 133.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C2; 10 48.83 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (94034897..94057302)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (94199035..94221440)

Chromosome 10 - NC_000076.7 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.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW112974 (e-PCR)
- UniSTS:179277

10.MMHAP28FLD1.seq (e-PCR)
- UniSTS:123021

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial ATP synthesis coupled electron transport	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial respiratory chain complex I assembly	IEA Inferred from Electronic Annotation more info
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in response to oxidative stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to oxidative stress	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
part_of mitochondrial respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial respiratory chain complex I	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in respirasome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12

Names: 13kDa differentiation-associated protein; NADH-ubiquinone oxidoreductase subunit B17.2; complex I-B17.2

NP_001351620.1

EC 1.6.99.3

EC 7.1.1.2

NP_079827.3

EC 1.6.99.3

EC 7.1.1.2

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_001364691.1 → NP_001351620.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform 2

Status: VALIDATED

Source sequence(s)

AC138026

UniProtKB/TrEMBL

F6RBR6

Related

ENSMUSP00000119625.3, ENSMUST00000135292.3

Conserved Domains (1) summary

pfam05071
Location:37 → 85

NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12
NM_025551.4 → NP_079827.3 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform 1

Status: VALIDATED

Source sequence(s)

AC138026

Consensus CDS

CCDS24132.2

UniProtKB/Swiss-Prot

Q3TIA0, Q7TMF3

UniProtKB/TrEMBL

Q8BME2, Q9CQ83

Related

ENSMUSP00000020209.10, ENSMUST00000020209.16

Conserved Domains (1) summary

pfam05071
Location:37 → 116

NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12