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VPS18 VPS18 core subunit of CORVET and HOPS complexes [ Homo sapiens (human) ]

Gene ID: 57617, updated on 18-Jun-2019

Summary

Official Symbol
VPS18provided by HGNC
Official Full Name
VPS18 core subunit of CORVET and HOPS complexesprovided by HGNC
Primary source
HGNC:HGNC:15972
See related
Ensembl:ENSG00000104142 MIM:608551
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PEP3
Summary
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 7.7), kidney (RPKM 5.8) and 25 other tissues See more
Orthologs

Genomic context

See VPS18 in Genome Data Viewer
Location:
15q15.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (40894410..40903975)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41186628..41196173)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SPINT1 antisense RNA 1 Neighboring gene serine peptidase inhibitor, Kunitz type 1 Neighboring gene ras homolog family member V Neighboring gene uncharacterized LOC105370943 Neighboring gene delta like canonical Notch ligand 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag The CA domain of HIV-1 Gag and the clathrin heavy-chain repeat domain of VPS18 are required for the interaction between Gag and VPS18 PubMed
gag VPS18 and MON2 proteins are required for proper HIV-1 Gag localization to plasma membrane and the efficient production of infectious virions in human cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1475

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
syntaxin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome organization IDA
Inferred from Direct Assay
more info
PubMed 
endosome to lysosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
lysosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome organization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of SNARE complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of synaptic vesicle exocytosis EXP
Inferred from Experiment
more info
PubMed 
regulation of synaptic vesicle exocytosis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of synaptic vesicle exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
vacuole organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle docking involved in exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AP-3 adaptor complex IEA
Inferred from Electronic Annotation
more info
 
CORVET complex IEA
Inferred from Electronic Annotation
more info
 
HOPS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
HOPS complex IDA
Inferred from Direct Assay
more info
PubMed 
actin filament IEA
Inferred from Electronic Annotation
more info
 
autophagosome IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
early endosome IEA
Inferred from Electronic Annotation
more info
 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamatergic synapse EXP
Inferred from Experiment
more info
PubMed 
glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
vacuolar protein sorting-associated protein 18 homolog
Names
VPS18, CORVET/HOPS core subunit
hVPS18
vacuolar protein sorting 18 homolog
vacuolar protein sorting protein 18

NCBI Reference Sequences (RefSeq)

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)

  1. NM_020857.3NP_065908.1  vacuolar protein sorting-associated protein 18 homolog

    See identical proteins and their annotated locations for NP_065908.1

    Status: REVIEWED

    Source sequence(s)
    AF308802, AL713725
    Consensus CDS
    CCDS10069.1
    UniProtKB/Swiss-Prot
    Q9P253
    UniProtKB/TrEMBL
    A0A024R9R3
    Related
    ENSP00000220509.5, ENST00000220509.10
    Conserved Domains (3) summary
    smart00299
    Location:644768
    CLH; Clathrin heavy chain repeat homology
    pfam00637
    Location:644769
    Clathrin; Region in Clathrin and VPS
    pfam05131
    Location:291434
    Pep3_Vps18; Pep3/Vps18/deep orange family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    40894410..40903975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022447.1XP_016877936.1  vacuolar protein sorting-associated protein 18 homolog isoform X3

  2. XM_011521844.2XP_011520146.1  vacuolar protein sorting-associated protein 18 homolog isoform X2

    Conserved Domains (3) summary
    smart00299
    Location:542666
    CLH; Clathrin heavy chain repeat homology
    pfam00637
    Location:542667
    Clathrin; Region in Clathrin and VPS
    pfam05131
    Location:189332
    Pep3_Vps18; Pep3/Vps18/deep orange family
  3. XM_011521843.2XP_011520145.1  vacuolar protein sorting-associated protein 18 homolog isoform X1

    Conserved Domains (3) summary
    smart00299
    Location:572696
    CLH; Clathrin heavy chain repeat homology
    pfam00637
    Location:572697
    Clathrin; Region in Clathrin and VPS
    pfam05131
    Location:219362
    Pep3_Vps18; Pep3/Vps18/deep orange family
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