Vps18 VPS18 CORVET/HOPS core subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vps18provided by MGI
Official Full Name: VPS18 CORVET/HOPS core subunitprovided by MGI
Primary source: MGI:MGI:2443626
See related: Ensembl:ENSMUSG00000034216 AllianceGenome:MGI:2443626
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: 9930024E13Rik
Summary: Enables actin binding activity. Acts upstream of or within endosome organization and symbiont entry into host cell. Located in actin filament and early endosome. Part of AP-3 adaptor complex and CORVET complex. Is expressed in alimentary system; ganglia; nose; and peripheral nervous system. Orthologous to human VPS18 (VPS18 core subunit of CORVET and HOPS complexes). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 14.4), adrenal adult (RPKM 13.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 59.97 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (119119220..119128934)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (119288742..119298453)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Isoform-specific functions of synaptopodin-2 variants in cytoskeleton stabilization and autophagy regulation in muscle under mechanical stress.
Title: Isoform-specific functions of synaptopodin-2 variants in cytoskeleton stabilization and autophagy regulation in muscle under mechanical stress.
important roles of Vps18 in neuron survival and migration, which are disrupted in multiple neural disorders.
Title: Ablation of vacuole protein sorting 18 (Vps18) gene leads to neurodegeneration and impaired neuronal migration by disrupting multiple vesicle transport pathways to lysosomes.
Vps18 deficiency severely blocks the dendrite development of Pukinje cells but not cerebral cortical neurons.
Title: Vps18 deficiency inhibits dendritogenesis in Purkinje cells by blocking the lysosomal degradation of Lysyl Oxidase.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin binding	IEA Inferred from Electronic Annotation more info
enables syntaxin binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in endosome organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within endosome organization	IDA Inferred from Direct Assay more info	PubMed
involved_in endosome organization	ISO Inferred from Sequence Orthology more info
involved_in endosome to lysosome transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosome to lysosome transport	IEA Inferred from Electronic Annotation more info
involved_in endosome to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in lysosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome organization	IEA Inferred from Electronic Annotation more info
involved_in lysosome organization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of intracellular estrogen receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of intracellular estrogen receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in organelle fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle exocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within symbiont entry into host cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle docking involved in exocytosis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of AP-3 adaptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of CORVET complex	IDA Inferred from Direct Assay more info	PubMed
part_of HOPS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of HOPS complex	IEA Inferred from Electronic Annotation more info
part_of HOPS complex	ISO Inferred from Sequence Orthology more info
located_in actin filament	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle	IEA Inferred from Electronic Annotation more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
is_active_in presynapse	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: vacuolar protein sorting-associated protein 18 homolog

Names: vacuolar protein sorting 18

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_172269.3 → NP_758473.3 vacuolar protein sorting-associated protein 18 homolog

See identical proteins and their annotated locations for NP_758473.3

Status: VALIDATED

Source sequence(s)

AK033333, AK036915, AL929318

Consensus CDS

CCDS16599.1

UniProtKB/Swiss-Prot

Q8BGV6, Q8BZX6, Q8C126, Q8R307

UniProtKB/TrEMBL

Q3UG80

Related

ENSMUSP00000036915.5, ENSMUST00000037280.5

Conserved Domains (3) summary

smart00299
Location:644 → 768

CLH; Clathrin heavy chain repeat homology

pfam00637
Location:638 → 769

Clathrin; Region in Clathrin and VPS

pfam05131
Location:291 → 434

Pep3_Vps18; Pep3/Vps18/deep orange family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

119119220..119128934

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161343.1 → XP_036017236.1 vacuolar protein sorting-associated protein 18 homolog isoform X1

UniProtKB/TrEMBL

Q69ZI9

Conserved Domains (3) summary

cd16462
Location:749 → 850

RING-H2_Pep3p_like; RING finger, H2 subclass, found in Saccharomyces cerevisiae vacuolar membrane protein PEP3 (Pep3p) and similar proteins

pfam00637
Location:513 → 641

Clathrin; Region in Clathrin and VPS

pfam05131
Location:189 → 332

Pep3_Vps18; Pep3/Vps18/deep orange family