Mpv17 MpV17 mitochondrial inner membrane protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mpv17provided by MGI
Official Full Name: MpV17 mitochondrial inner membrane proteinprovided by MGI
Primary source: MGI:MGI:97138
See related: Ensembl:ENSMUSG00000107283 AllianceGenome:MGI:97138
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: Tg.Mpv17
Summary: Predicted to enable channel activity. Involved in several processes, including cellular response to reactive oxygen species; glomerular basement membrane development; and regulation of mitochondrial DNA metabolic process. Acts upstream of or within reactive oxygen species metabolic process and sensory perception of sound. Located in mitochondrion and peroxisome. Used to study autosomal recessive Alport syndrome; mitochondrial DNA depletion syndrome 3; and nephrotic syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2EE and mitochondrial DNA depletion syndrome 6. Orthologous to human MPV17 (mitochondrial inner membrane protein MPV17). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 42.0), heart adult (RPKM 38.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B1; 5 17.12 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (31298007..31311595, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (31140663..31154251, complement)

Chromosome 5 - NC_000071.7 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?

MPV17 Prevents Myocardial Ferroptosis and Ischemic Cardiac Injury through Maintaining SLC25A10-Mediated Mitochondrial Glutathione Import.
Title: MPV17 Prevents Myocardial Ferroptosis and Ischemic Cardiac Injury through Maintaining SLC25A10-Mediated Mitochondrial Glutathione Import.
Mitochondrial protein MPV17 promotes beta-cell apoptosis in diabetogenesis.
Title: Mitochondrial protein MPV17 promotes β-cell apoptosis in diabetogenesis.
Data show that elevated rGMP incorporation is associated with early-onset mtDNA depletion in liver and late-onset multiple deletions in brain of Mpv17-/- mice, suggesting aberrant ribonucleotide incorporation is a primary mtDNA abnormality that can result in pathology.
Title: Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model.
changes in the expression of factors involved in mitochondrial deoxynucleotide homeostasis indicate a remodeling of nucleotide metabolism in MPV17 disease models
Title: MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.
the nuclear gene MPV17, whose mutated forms are associated with hepatocerebral MDDS in humans, plays a so-far unknown role in mtDNA maintenance
Title: The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species.
the inner mitochondrial membrane protein Mpv17 in podocytes is essential for the maintenance of mitochondrial homeostasis and protects podocytes against oxidative stress-induced injury both in vitro and in vivo.
Title: Mpv17 in mitochondria protects podocytes against mitochondrial dysfunction and apoptosis in vivo and in vitro.
A lack of Mpv17 protein function in mitochondria thus seems to initiate tissue-specific cell-death pathways resulting in the pathology seen during the degeneration process.
Title: Missing mitochondrial Mpv17 gene function induces tissue-specific cell-death pathway in the degenerating inner ear.
Data suggest that Rhit acts as a repressor in the heat-induced and age-dependent transcriptional regulation of the (S) isoform of Mpv17-like protein.
Title: A novel transcriptional repressor, Rhit, is involved in heat-inducible and age-dependent expression of Mpv17-like protein, a participant in reactive oxygen species metabolism.
the functions of certain M-LP isoforms are tissue- and species-specific, implying that their potential involvement in Reactive Oxygen Species metabolism may be redundant or may be complemented by other members of the Mpv17 family.
Title: Prediction of novel isoforms of the mouse Mpv17l protein.
Severe mtDNA depletion in liver in Mpv17 knockout mice; these results demonstrate that Mpv17 controls mtDNA copy number by a highly tissue- and possibly cytotype-specific mechanism.
Title: Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

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

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables channel activity	ISO Inferred from Sequence Orthology more info
enables channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to reactive oxygen species	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glomerular basement membrane development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homeostatic process	ISO Inferred from Sequence Orthology more info
involved_in inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial genome maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrial DNA metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitochondrial DNA metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial DNA metabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial inner membrane protein Mpv17

Names: protein Mpv17

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_001294322.1 → NP_001281251.1 mitochondrial inner membrane protein Mpv17 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 2. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

BY088136, BY258057, BY271802, BY415502, CD776211, CF731561, CK622051, CX633035, DV660230

Consensus CDS

CCDS80248.1

UniProtKB/TrEMBL

D3YWI4, E9Q1I6

Related

ENSMUSP00000143843.2, ENSMUST00000200744.4

Conserved Domains (1) summary

pfam04117
Location:110 → 163

Mpv17_PMP22; Mpv17 / PMP22 family
NM_001294324.1 → NP_001281253.1 mitochondrial inner membrane protein Mpv17 isoform 1

See identical proteins and their annotated locations for NP_001281253.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes isoform 1. Variants 1, 2, and 4 encode the same isoform (1).

Source sequence(s)

BY415502, CD776211, CF731561, CX633035, DV062332, DV660230

Consensus CDS

CCDS19175.1

UniProtKB/Swiss-Prot

P19258

UniProtKB/TrEMBL

D3YWI4

Related

ENSMUSP00000144331.2, ENSMUST00000200864.4

Conserved Domains (1) summary

pfam04117
Location:110 → 174

Mpv17_PMP22; Mpv17 / PMP22 family
NM_001310527.1 → NP_001297456.1 mitochondrial inner membrane protein Mpv17 isoform 1

See identical proteins and their annotated locations for NP_001297456.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2. Variants 1, 2, and 4 encode the same isoform (1).

Source sequence(s)

AC109608

Consensus CDS

CCDS19175.1

UniProtKB/Swiss-Prot

P19258

UniProtKB/TrEMBL

D3YWI4

Related

ENSMUSP00000144198.2, ENSMUST00000201353.4

Conserved Domains (1) summary

pfam04117
Location:110 → 174

Mpv17_PMP22; Mpv17 / PMP22 family
NM_001310528.1 → NP_001297457.1 mitochondrial inner membrane protein Mpv17 isoform 3

See identical proteins and their annotated locations for NP_001297457.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 3, which is longer than isoform 1.

Source sequence(s)

AC109608

Consensus CDS

CCDS80249.1

UniProtKB/TrEMBL

D3YWI4, G3UVW1

Related

ENSMUSP00000144119.2, ENSMUST00000202241.4

Conserved Domains (1) summary

pfam04117
Location:110 → 176

Mpv17_PMP22; Mpv17 / PMP22 family
NM_008622.6 → NP_032648.1 mitochondrial inner membrane protein Mpv17 isoform 1

See identical proteins and their annotated locations for NP_032648.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1, 2, and 4 encode the same isoform (1).

Source sequence(s)

BY088136, BY258057, BY271802, BY415502, CD776211, CF731561, CK622051, CX633035, DV660230

Consensus CDS

CCDS19175.1

UniProtKB/Swiss-Prot

P19258

UniProtKB/TrEMBL

D3YWI4

Related

ENSMUSP00000115292.2, ENSMUST00000154241.8

Conserved Domains (1) summary

pfam04117
Location:110 → 174

Mpv17_PMP22; Mpv17 / PMP22 family