Gene Gene information from NCBI Gene database.
Entrez ID 57617
Gene name VPS18 core subunit of CORVET and HOPS complexes
Gene symbol VPS18
Synonyms (NCBI Gene)
PEP3
Chromosome 15
Chromosome location 15q15.1
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 vacuol
miRNA miRNA information provided by mirtarbase database.
286
miRTarBase ID miRNA Experiments Reference
MIRT021057 hsa-miR-155-5p Reporter assay 20584899
MIRT042991 hsa-miR-324-3p CLASH 23622248
MIRT039983 hsa-miR-615-3p CLASH 23622248
MIRT724932 hsa-miR-3918 HITS-CLIP 19536157
MIRT724931 hsa-miR-4685-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 11382755, 20434987, 23434281, 23901104, 23918659, 24554770, 25783203, 26496610, 28325809, 28514442, 33422265, 33961781, 35271311
GO:0005764 Component Lysosome IDA 11382755, 21802320
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608551 15972 ENSG00000104142
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P253
Protein name Vacuolar protein sorting-associated protein 18 homolog (hVPS18)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05131 Pep3_Vps18 291 435 Pep3/Vps18/deep orange family Family
PF00637 Clathrin 620 771 Region in Clathrin and VPS Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expression was highest in heart and low in lung. {ECO:0000269|PubMed:11382755}.
Sequence
MASILDEYENSLSRSAVLQPGCPSVGIPHSGYVNAQLEKEVPIFTKQRIDFTPSERITSL
VVSSNQLCMSLGKDTLLRIDLGKANEPNHVELGRKDDAKVHKMFLDHTGSHLLIALSSTE
VLYVNRNGQKVRPLARWKGQLVESVGWNKALGTESSTGPILVGTAQGHIFEAELSASEGG
LFGPAPDLYFRPLYVLNEEGGPAPVCSLEAERGPDGRSFVIATTRQRLFQFIGRAAEGAE
AQGFSGLFAAYTDHPPPFREFPSNLGYSELAFYTPKLRSAPRAFAWMMGDGVLYGALDCG
RPDSLLSEERVWEYPEGVGPGASPPLAIVLTQFHFLLLLADRVEAVCTLTGQVVLRDHFL
EKFGPLKHMVKDSSTGQLWAYTERAVFRYHVQREARDVWRTYLDMNRFDLAKEYCRERPD
CLDTVLAREADFCFR
QRRYLESARCYALTQSYFEEIALKFLEARQEEALAEFLQRKLASL
KPAERTQATLLTTWLTELYLSRLGALQGDPEALTLYRETKECFRTFLSSPRHKEWLFASR
ASIHELLASHGDTEHMVYFAVIMQDYERVVAYHCQHEAYEEALAVLARHRDPQLFYKFSP
ILIRHIPRQLVDAWIEMGSRLDARQLIPALVNYSQGGEVQQVSQAIRYMEFCVNVLGETE
QAIHNYLLSLYARGRPDSLLAYLEQAGASPHRVHYDLKYALRLCAEHGHHRACVHVYKVL
ELYEEAVDLALQVDVDLAKQCADLPEEDEELRKKLWLKIARHVVQEEEDVQ
TAMACLASC
PLLKIEDVLPFFPDFVTIDHFKEAICSSLKAYNHHIQELQREMEEATASAQRIRRDLQEL
RGRYGTVEPQDKCATCDFPLLNRPFYLFLCGHMFHADCLLQAVRPGLPAYKQARLEELQR
KLGAAPPPAKGSARAKEAEGGAATAGPSREQLKADLDELVAAECVYCGELMIRSIDRPFI
DPQRYEEEQLSWL
Sequence length 973
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Autophagy - animal
Efferocytosis
Salmonella infection
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs79536497 RCV005929339
Adrenocortical carcinoma, hereditary Likely benign rs79536497 RCV005929341
Clear cell carcinoma of kidney Likely benign rs79536497 RCV005929342
Familial cancer of breast Likely benign rs79536497 RCV005929338
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Buschke Ollendorff syndrome Associate 22132895