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Aliases for VPS18 Gene

Aliases for VPS18 Gene

  • VPS18, CORVET/HOPS Core Subunit 2 3 5
  • Vacuolar Protein Sorting Protein 18 2 3
  • HVPS18 3 4
  • Vacuolar Protein Sorting-Associated Protein 18 Homolog 3
  • Vacuolar Protein Sorting 18 Homolog (S. Cerevisiae) 2
  • Vacuolar Protein Sorting 18 Homolog 3
  • KIAA1475 4
  • PEP3 3

External Ids for VPS18 Gene

Previous GeneCards Identifiers for VPS18 Gene

  • GC15P036554
  • GC15P034082
  • GC15P038765
  • GC15P038902
  • GC15P038974
  • GC15P041186
  • GC15P018034

Summaries for VPS18 Gene

Entrez Gene Summary for VPS18 Gene

  • 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]

GeneCards Summary for VPS18 Gene

VPS18 (VPS18, CORVET/HOPS Core Subunit) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include binding and syntaxin binding.

UniProtKB/Swiss-Prot for VPS18 Gene

  • Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203). Involved in dendrite development of Pukinje cells (By similarity).

Gene Wiki entry for VPS18 Gene

Additional gene information for VPS18 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS18 Gene

Genomics for VPS18 Gene

GeneHancer (GH) Regulatory Elements for VPS18 Gene

Promoters and enhancers for VPS18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I040894 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 416 2.7 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A E2F8 ZNF143 SP3 VPS18 LOC105370943 GC15M040883
GH15I040893 Enhancer 0.8 FANTOM5 ENCODE 552.2 -1.2 -1204 0.2 POLR2A CEBPA MAX CEBPG MYC VPS18 INO80 GC15P040890 GC15M040883
GH15I040895 Enhancer 0.6 ENCODE dbSUPER 550.8 -1.8 -1792 0.2 CTCF HNF4A ZBTB26 GC15P040890 VPS18 GC15M040883
GH15I040785 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.7 -106.9 -106917 4.4 CTCF ZBTB6 NFIB SIN3A ZIC2 RAD21 CTBP1 GATA3 POLR2A PRDM10 ZFYVE19 CCDC32 RMDN3 GCHFR SPINT1 RAD51 RAD51-AS1 RHOV VPS18 ENSG00000251161
GH15I040742 Enhancer 1.2 Ensembl ENCODE 10.2 -148.5 -148506 7.4 ATF1 PKNOX1 FOXA2 ARID4B SIN3A IRF4 TCF12 ZNF121 ZNF766 ELK1 CCDC32 RAD51 C15orf62 DNAJC17 ZFYVE19 RAD51-AS1 SPINT1 RHOV VPS18 ENSG00000251161
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around VPS18 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the VPS18 gene promoter:

Genomic Locations for VPS18 Gene

Genomic Locations for VPS18 Gene
chr15:40,894,430-40,903,975
(GRCh38/hg38)
Size:
9,546 bases
Orientation:
Plus strand
chr15:41,186,628-41,196,173
(GRCh37/hg19)

Genomic View for VPS18 Gene

Genes around VPS18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS18 Gene

Proteins for VPS18 Gene

  • Protein details for VPS18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P253-VPS18_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 18 homolog
    Protein Accession:
    Q9P253
    Secondary Accessions:
    • Q8TCG0
    • Q96DI3
    • Q9H268

    Protein attributes for VPS18 Gene

    Size:
    973 amino acids
    Molecular mass:
    110186 Da
    Quaternary structure:
    • Core component of at least two putative endosomal tethering complexes, the homotypic fusion and vacuole protein sorting (HOPS) complex and the class C core vacuaole/endosome tethering (CORVET) complex. Their common core is composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, which in HOPS further associates with VPS39 and VPS41 and in CORVET with VPS8 and TGFBRAP1 (PubMed:23351085, PubMed:25783203, PubMed:23901104). Interacts with RAB5C (By similarity). Interacts with HOOK1 (By similarity). Interacts with STX7, MON1B (PubMed:20434987, PubMed:24554770). Associates with adaptor protein complex 3 (AP-3) and clathrin:AP-3 complexes (By similarity). Interacts with SYNPO2 (PubMed:23434281).
    SequenceCaution:
    • Sequence=AAH01513.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=BAA95999.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for VPS18 Gene

Post-translational modifications for VPS18 Gene

No Post-translational modifications

Other Protein References for VPS18 Gene

No data available for DME Specific Peptides for VPS18 Gene

Domains & Families for VPS18 Gene

Gene Families for VPS18 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for VPS18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P253

UniProtKB/Swiss-Prot:

VPS18_HUMAN :
  • Belongs to the VPS18 family.
Family:
  • Belongs to the VPS18 family.
genes like me logo Genes that share domains with VPS18: view

Function for VPS18 Gene

Molecular function for VPS18 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203). Involved in dendrite development of Pukinje cells (By similarity).

Phenotypes From GWAS Catalog for VPS18 Gene

Gene Ontology (GO) - Molecular Function for VPS18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 11382755
GO:0019905 syntaxin binding IDA 11382755
GO:0030674 protein binding, bridging IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with VPS18: view
genes like me logo Genes that share phenotypes with VPS18: view

Animal Models for VPS18 Gene

MGI Knock Outs for VPS18:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VPS18 Gene

Localization for VPS18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS18 Gene

Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Early endosome. Cytoplasmic vesicle, autophagosome. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Cytoplasmic, peripheral membrane protein associated with early endosomes and late endosomes/lysosomes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VPS18 gene
Compartment Confidence
lysosome 5
endosome 5
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for VPS18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA,IEA 11382755
GO:0005765 lysosomal membrane IEA,HDA 17897319
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005770 late endosome IDA 11382755
genes like me logo Genes that share ontologies with VPS18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VPS18 Gene

Pathways & Interactions for VPS18 Gene

SuperPathways for VPS18 Gene

No Data Available

Gene Ontology (GO) - Biological Process for VPS18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006904 vesicle docking involved in exocytosis IBA --
GO:0006914 autophagy IEA --
GO:0007032 endosome organization IEA,IDA 18799622
genes like me logo Genes that share ontologies with VPS18: view

No data available for Pathways by source and SIGNOR curated interactions for VPS18 Gene

Drugs & Compounds for VPS18 Gene

No Compound Related Data Available

Transcripts for VPS18 Gene

Unigene Clusters for VPS18 Gene

Vacuolar protein sorting 18 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for VPS18 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2:
SP3: - -

Relevant External Links for VPS18 Gene

GeneLoc Exon Structure for
VPS18
ECgene alternative splicing isoforms for
VPS18

Expression for VPS18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VPS18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VPS18 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.6) and Lymph node (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VPS18 Gene



Protein tissue co-expression partners for VPS18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VPS18 Gene:

VPS18

SOURCE GeneReport for Unigene cluster for VPS18 Gene:

Hs.23876

mRNA Expression by UniProt/SwissProt for VPS18 Gene:

Q9P253-VPS18_HUMAN
Tissue specificity: Ubiquitous. Expression was highest in heart and low in lung.

Evidence on tissue expression from TISSUES for VPS18 Gene

  • Lung(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with VPS18: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS18 Gene

Orthologs for VPS18 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VPS18 33 34
  • 99.59 (n)
oppossum
(Monodelphis domestica)
Mammalia VPS18 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VPS18 33 34
  • 91.26 (n)
cow
(Bos Taurus)
Mammalia VPS18 33 34
  • 90.78 (n)
mouse
(Mus musculus)
Mammalia Vps18 33 16 34
  • 87.84 (n)
rat
(Rattus norvegicus)
Mammalia Vps18 33
  • 87.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VPS18 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves VPS18 33 34
  • 69.37 (n)
lizard
(Anolis carolinensis)
Reptilia VPS18 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps18 33
  • 65.63 (n)
zebrafish
(Danio rerio)
Actinopterygii vps18 33 33 34
  • 65.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000983 33
  • 50.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta dor 35 33 34
  • 47.96 (n)
worm
(Caenorhabditis elegans)
Secernentea vps-18 34
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP3 34 36
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G12470 33
  • 46.51 (n)
rice
(Oryza sativa)
Liliopsida Os08g0178100 33
  • 46.33 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06183 33
  • 48.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1226 34
  • 43 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pep3 33
  • 39.46 (n)
Species where no ortholog for VPS18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VPS18 Gene

ENSEMBL:
Gene Tree for VPS18 (if available)
TreeFam:
Gene Tree for VPS18 (if available)

Paralogs for VPS18 Gene

(1) SIMAP similar genes for VPS18 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with VPS18: view

No data available for Paralogs for VPS18 Gene

Variants for VPS18 Gene

Sequence variations from dbSNP and Humsavar for VPS18 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
VAR_035950 A colorectal cancer sample p.Ala913Ser
rs1000466012 -- 40,895,141(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000854058 -- 40,904,122(+) A/G downstream_transcript_variant
rs1001466074 -- 40,896,898(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001471293 -- 40,901,354(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for VPS18 Gene

Variant ID Type Subtype PubMed ID
nsv819345 CNV loss 19587683
nsv569228 CNV loss 21841781
nsv477784 CNV novel sequence insertion 20440878
nsv1054764 CNV gain 25217958

Variation tolerance for VPS18 Gene

Residual Variation Intolerance Score: 8.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.19; 52.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VPS18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS18 Gene

Disorders for VPS18 Gene

Additional Disease Information for VPS18

No disorders were found for VPS18 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VPS18 Gene

Publications for VPS18 Gene

  1. Ubiquitylation and degradation of serum-inducible kinase by hVPS18, a RING-H2 type ubiquitin ligase. (PMID: 16203730) Yogosawa S … Akazawa C (The Journal of biological chemistry 2005) 2 3 22 58
  2. Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33. (PMID: 11250079) Huizing M … Krämer H (Gene 2001) 2 3 4 58
  3. Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity. (PMID: 26463206) van der Kant R … Neefjes J (The Journal of biological chemistry 2015) 2 3 58
  4. Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes. (PMID: 25783203) Wartosch L … Luzio JP (Traffic (Copenhagen, Denmark) 2015) 3 4 58
  5. The HOPS complex mediates autophagosome-lysosome fusion through interaction with syntaxin 17. (PMID: 24554770) Jiang P … Mizushima N (Molecular biology of the cell 2014) 3 4 58

Products for VPS18 Gene

Sources for VPS18 Gene

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