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Aliases for VPS18 Gene

Aliases for VPS18 Gene

  • Vacuolar Protein Sorting 18 Homolog (S. Cerevisiae) 2 3
  • Vacuolar Protein Sorting Protein 18 2 3
  • HVPS18 3 4
  • 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 (Vacuolar Protein Sorting 18 Homolog (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with VPS18 include arthrogryposis, renal dysfunction, and cholestasis 1. 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

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

Genomics for VPS18 Gene

Regulatory Elements for VPS18 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for VPS18 Gene

Chromosome:
15
Start:
40,894,430 bp from pter
End:
40,903,975 bp from pter
Size:
9,546 bases
Orientation:
Plus strand

Genomic View for VPS18 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Associates with adaptor protein complex 3 (AP-3) and clathrin:AP-3 complexes (By similarity).
    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

Proteomics data for VPS18 Gene at MOPED

Post-translational modifications for VPS18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VPS18 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VPS18 Gene

Domains & Families for VPS18 Gene

Protein Domains for VPS18 Gene

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.
  • Contains 1 CHCR (clathrin heavy-chain) repeat.
Family:
  • Belongs to the VPS18 family.
Similarity:
  • Contains 1 CHCR (clathrin heavy-chain) repeat.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with VPS18: view

No data available for Gene Families for VPS18 Gene

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).

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 Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for VPS18

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for VPS18 Gene COMPARTMENTS Subcellular localization image for VPS18 gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
cytoskeleton 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for VPS18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell --
GO:0005764 lysosome IDA 11382755
GO:0005765 lysosomal membrane IDA 17897319
GO:0005769 early endosome IEA --
GO:0005770 late endosome IDA 11382755
genes like me logo Genes that share ontologies with VPS18: view

Pathways & Interactions for VPS18 Gene

SuperPathways for VPS18 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for VPS18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006904 vesicle docking involved in exocytosis IBA --
GO:0006914 autophagy IEA --
GO:0007032 endosome organization IDA 18799622
GO:0007040 lysosome organization 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

mRNA/cDNA for VPS18 Gene

Unigene Clusters for VPS18 Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for VPS18

Flow Cytometry 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 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, MOPED, and MaxQB for VPS18 Gene



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.
genes like me logo Genes that share expression patterns with VPS18: view

Protein tissue co-expression partners for VPS18 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia VPS18 35
  • 90.78 (n)
  • 97.12 (a)
VPS18 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VPS18 35
  • 91.26 (n)
  • 97.53 (a)
VPS18 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vps18 35
  • 87.84 (n)
  • 95.79 (a)
Vps18 16
Vps18 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VPS18 35
  • 99.59 (n)
  • 99.69 (a)
VPS18 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vps18 35
  • 87.6 (n)
  • 95.17 (a)
oppossum
(Monodelphis domestica)
Mammalia VPS18 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VPS18 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves VPS18 35
  • 69.37 (n)
  • 74.1 (a)
VPS18 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VPS18 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps18 35
  • 65.63 (n)
  • 68.87 (a)
zebrafish
(Danio rerio)
Actinopterygii vps18 35
  • 65.5 (n)
  • 65.98 (a)
vps18 35
vps18 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dor 37
  • 29 (a)
dor 35
  • 47.96 (n)
  • 36.19 (a)
dor 36
  • 35 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000983 35
  • 50.6 (n)
  • 37.08 (a)
worm
(Caenorhabditis elegans)
Secernentea vps-18 36
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP3 36
  • 22 (a)
OneToOne
PEP3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G12470 35
  • 46.51 (n)
  • 37.14 (a)
rice
(Oryza sativa)
Liliopsida Os08g0178100 35
  • 46.33 (n)
  • 37.08 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06183 35
  • 48.08 (n)
  • 36.83 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pep3 35
  • 39.46 (n)
  • 28.94 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1226 36
  • 43 (a)
OneToOne
Species with no ortholog for VPS18:
  • 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 Sequence Context AA Info Type MAF
rs595559 -- 40,900,360(+) CTGAC(C/T)CTCTA synonymous-codon, reference
rs611694 -- 40,898,525(+) GGAAT(A/G)CAGTG intron-variant, upstream-variant-2KB
rs615736 -- 40,899,448(+) GAGGC(C/G/T)GAGCG reference, synonymous-codon
rs622589 -- 40,901,738(+) ctgtc(C/T)ctact intron-variant
rs673284 -- 40,898,267(+) TTTTT(C/T)CCCCC intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv904101 CNV Loss 21882294
nsv904102 CNV Loss 21882294
dgv2360n71 CNV Loss 21882294
nsv904104 CNV Loss 21882294
nsv819345 CNV Loss 19587683

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)

Relevant External Links for VPS18 Gene

HapMap Linkage Disequilibrium report
VPS18

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

Disorders for VPS18 Gene

MalaCards: The human disease database

(1) MalaCards diseases for VPS18 Gene - From: DISEASES

Disorder Aliases PubMed IDs
arthrogryposis, renal dysfunction, and cholestasis 1
  • arc syndrome
- elite association
Search VPS18 in MalaCards View complete list of genes associated with diseases

Relevant External Links for VPS18

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VPS18
genes like me logo Genes that share disorders with VPS18: view

No data available for 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. (J. Biol. Chem. 2005) 2 23 67
  2. Monoubiquitylation of GGA3 by hVPS18 regulates its ubiquitin-binding ability. (PMID: 16996030) Yogosawa S. … Akazawa C. (Biochem. Biophys. Res. Commun. 2006) 23 67
  3. Molecular cloning and characterization of human VPS18, VPS11, VPS16, and VPS33. (PMID: 11250079) Huizing M. … Kraemer H. (Gene 2001) 2 67
  4. New component of the vacuolar class C-Vps complex couples nucleotide exchange on the Ypt7 GTPase to SNARE-dependent docking and fusion. (PMID: 11062257) Wurmser A.E. … Emr S.D. (J. Cell Biol. 2000) 23 67
  5. Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes. (PMID: 25783203) Wartosch L. … Luzio J.P. (Traffic 2015) 67

Products for VPS18 Gene

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