mpv17 mitochondrial inner membrane protein MPV17 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mpv17provided by ZNC
Official Full Name: mitochondrial inner membrane protein MPV17provided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1168
See related: Ensembl:ENSDARG00000032431 AllianceGenome:ZFIN:ZDB-GENE-040426-1168
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: roy; zgc:63573
Summary: Acts upstream of or within iridophore differentiation. Predicted to be located in mitochondrial inner membrane. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. Is expressed in axis; eye; neural crest; notochord; and optic tectum. Used to study mitochondrial DNA depletion 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, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 20

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	20	NC_007131.7 (38671866..38716965)
105	previous assembly	GRCz10 (GCF_000002035.5)	20	NC_007131.6 (38768987..38814086)

Chromosome 20 - NC_007131.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results provide evidence for zebrafish Mpv17 being essential for maintaining mitochondrial structure and functionality, while its effects on mtDNA copy number seem to be subordinate.
Title: The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
This work provides genetic evidence that both roy orbison and transparent affect the mpv17 locus by a similar if not identical genetic lesion.
Title: A defect in the mitochondrial protein Mpv17 underlies the transparent casper zebrafish.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of UDP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within iridophore differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial DNA metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of triglyceride metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein Mpv17

Names: MpV17 mitochondrial inner membrane protein; MpV17 transgene, murine homolog, glomerulosclerosis; tra; transparent

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.