Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndufa7provided by MGI
Official Full Name: NADH:ubiquinone oxidoreductase subunit A7provided by MGI
Primary source: MGI:MGI:1913666
See related: Ensembl:ENSMUSG00000041881 AllianceGenome:MGI:1913666
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 14.5kDa; CI-B14.5a; 2400007M02Rik
Summary: This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. Complex I has been biochemically separated into four fractions. The bovine ortholog of this protein has been reported to be part of the I-lambda fraction, which forms the extrinsic globular domain. In humans, deficiencies in complex I are associated with myopathies, encephalomyopathies, and neurodegenerative disorders. Pseudogenes of this gene are located on chromosomes 7 and 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression: Ubiquitous expression in kidney adult (RPKM 76.8), testis adult (RPKM 74.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 17.98 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (34043546..34057290)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (33824572..33838316)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ndufa7 plays a critical role in cardiac hypertrophy.
Title: ndufa7 plays a critical role in cardiac hypertrophy.
The authors characterize complex I, also known as NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, that was purified from bovine heart mitochondria. Biochemical treatment with detergent dissociated the complex into four subfractions. Ndufa7, also known as B14.5a, was found in the I-lambda fraction.
Title: Resolution of the membrane domain of bovine complex I into subcomplexes: implications for the structural organization of the enzyme.
The authors provide an overview of the function and assembly of human complex I, also known as NADH dehydrogenase (ubiquinone) 1 alpha subcomplex. They discuss its role in oxidative phosphorylation and the implications of complex I deficiency in disease.
Title: Molecular base of biochemical complex I deficiency.

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Variation

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Alleles

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

Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126763 (e-PCR)
- UniSTS:167210

Ndufa7 (e-PCR), detects polymorphism
- UniSTS:463420

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in ATP synthesis coupled electron transport	IEA Inferred from Electronic Annotation more info
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
part_of respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex I	ISO Inferred from Sequence Orthology more info
part_of respiratory chain complex I	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7

Names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (B14.5a); NADH-ubiquinone oxidoreductase subunit B14.5a; complex I-B14.5a

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_023202.4 → NP_075691.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7

See identical proteins and their annotated locations for NP_075691.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

BC055698, BX522503, CT030732

Consensus CDS

CCDS28631.1

UniProtKB/Swiss-Prot

Q9Z1P6

UniProtKB/TrEMBL

A0A068BGR9

Related

ENSMUSP00000039692.7, ENSMUST00000048249.8

Conserved Domains (1) summary

pfam07347
Location:5 → 102

CI-B14_5a; NADH:ubiquinone oxidoreductase subunit B14.5a (Complex I-B14.5a)

RNA

NR_103514.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' exon and uses an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.

Source sequence(s)

CT030732
NR_103515.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.

Source sequence(s)

BY605952, CT030732

Related

ENSMUST00000173182.2
NR_103516.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BX518947, BX522503, CT030732

Related

ENSMUST00000173132.8