Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndufv1provided by MGI
Official Full Name: NADH:ubiquinone oxidoreductase core subunit V1provided by MGI
Primary source: MGI:MGI:107851
See related: Ensembl:ENSMUSG00000037916 AllianceGenome:MGI:107851
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: CI-51kD
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. This gene is a core subunit and is conserved in prokaryotes and eukaryotes. The human ortholog of this protein has been characterized. It has consensus motifs for NADH, flavin mononucleotide, and iron-sulfur binding sites and participates in the oxidation of NADH as part of the dehydrogenase module of complex I. In humans, deficiencies in complex I are associated with myopathies, encephalomyopathies, and neurodegenerative disorders. [provided by RefSeq, Jun 2013]
Expression: Ubiquitous expression in heart adult (RPKM 285.6), kidney adult (RPKM 137.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 3.72 cM; 19 A

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (4057499..4062755, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (4007499..4012755, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

NDUFV1 attenuates renal ischemia-reperfusion injury by improving mitochondrial homeostasis.
Title: NDUFV1 attenuates renal ischemia-reperfusion injury by improving mitochondrial homeostasis.
NDUFV1 knockdown-induced blockage of insulin signaling was released by protein-tyrosine phosphatase 1B knockdown in C2C12 myotubes, and NDUFV1 or SIRT1 knockdown did not affect mitochondria biogenesis during C2C12 myogenesis. myogenesis.
Title: Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation.
The authors use green fluorescent-tagged complex I subunits to determine the kinetics of assembly. Tagged human NDUFV1 can replace endogenous protein in the holo-complex I protein and was also found in complex I subassemblies, suggesting that NDUFV1 may directly incorporate into the holo-enzyme and may also assemble into smaller complexes or in a monomer pool.
Title: Subunit-specific incorporation efficiency and kinetics in mitochondrial complex I homeostasis.
The authors clone and characterize the human NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial protein, also known as NDUFV1. They identify transcription factor binding sites as well as consensus motifs for NADH, flavin mononucleotide, and iron-sulfur binding sites. The human ortholog has high homology to the cow NDUFV1 protein.
Title: Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?
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)

Targeted (2)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ndufv1 (e-PCR), detects polymorphism
- UniSTS:527444

Ndufv1 (e-PCR), detects polymorphism
- UniSTS:143999

MARC_26579-26580:1033749235:1 (e-PCR)
- UniSTS:269031

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables FMN binding	IEA Inferred from Electronic Annotation more info
enables NAD binding	IEA Inferred from Electronic Annotation more info
enables NADH dehydrogenase (ubiquinone) activity	IDA Inferred from Direct Assay more info	PubMed
enables NADH dehydrogenase (ubiquinone) activity	ISO Inferred from Sequence Orthology more info
enables iron-sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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 electron transport, NADH to ubiquinone	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial electron transport, NADH to ubiquinone	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	ISO Inferred from Sequence Orthology more info
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed

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	HDA more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial respiratory chain complex I	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA 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] flavoprotein 1, mitochondrial

Names: NADH dehydrogenase (ubiquinone) flavoprotein 1; NADH dehydrogenase flavoprotein 1; 24 kDa (FP); NADH-ubiquinone oxidoreductase 51 kDa subunit; complex I-51kD

NP_598427.1

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.