Gene Gene information from NCBI Gene database.
Entrez ID 23339
Gene name VPS39 subunit of HOPS complex
Gene symbol VPS39
Synonyms (NCBI Gene)
TLPVAM6hVam6p
Chromosome 15
Chromosome location 15q15.1
Summary This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta
miRNA miRNA information provided by mirtarbase database.
369
miRTarBase ID miRNA Experiments Reference
MIRT001579 hsa-let-7b-5p pSILAC 18668040
MIRT017323 hsa-miR-335-5p Microarray 18185580
MIRT001579 hsa-let-7b-5p Proteomics;Other 18668040
MIRT039334 hsa-miR-425-5p CLASH 23622248
MIRT458722 hsa-miR-9500 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23901104, 24554770, 28325809, 28514442, 31806350, 32296183, 32353859, 32838362, 33060197, 33422265, 33452816, 33845483, 33947832, 33961781, 34232536, 34706264, 35271311, 36217030, 37821429
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
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
612188 20593 ENSG00000166887
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JC1
Protein name Vam6/Vps39-like protein (TRAP1-like protein) (hVam6p)
Protein function Regulator of TGF-beta/activin signaling, inhibiting SMAD3- and activating SMAD2-dependent transcription. Acts by interfering with SMAD3/SMAD4 complex formation, this would lead to inhibition of SMAD3-dependent transcription and relieve SMAD3 inh
PDB 6ZE9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00780 CNH 20 291 CNH domain Family
PF10366 Vps39_1 460 562 Vacuolar sorting protein 39 domain 1 Family
PF10367 Vps39_2 772 880 Vacuolar sorting protein 39 domain 2 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in heart, skeletal muscle, kidney, pancreas, brain, placenta and spleen. {ECO:0000269|PubMed:11448994, ECO:0000269|PubMed:12941698}.
Sequence
MHDAFEPVPILEKLPLQIDCLAAWEEWLLVGTKQGHLLLYRIRKDVVPADVASPESGSCN
RFEVTLEKSNKNFSKKIQQIHVVSQFKILVSLLENNIYVHDLLTFQQITTVSKAKGASLF
TCDLQHTETGEEVLRMCVAVKKKLQLYFWKDREFHELQGDFSVPDVPKSMAWCENSICVG
FKRDYYLIRVDGKGSIKELFPTGKQLEPLVAPLADGKVAVGQDDLTVVLNEEGICTQKCA
LNWTDIPVAMEHQPPYIIAVLPRYVEIRTFEPRLLVQSIELQRPRFITSGG
SNIIYVASN
HFVWRLIPVPMATQIQQLLQDKQFELALQLAEMKDDSDSEKQQQIHHIKNLYAFNLFCQK
RFDESMQVFAKLGTDPTHVMGLYPDLLPTDYRKQLQYPNPLPVLSGAELEKAHLALIDYL
TQKRSQLVKKLNDSDHQSSTSPLMEGTPTIKSKKKLLQIIDTTLLKCYLHTNVALVAPLL
RLENNHCHIEESEHVLKKAHKYSELIILYEKKGLHEKALQVLVDQSKKANSPLKGHERTV
QYLQHLGTENLHLIFSYSVWVL
RDFPEDGLKIFTEDLPEVESLPRDRVLGFLIENFKGLA
IPYLEHIIHVWEETGSRFHNCLIQLYCEKVQGLMKEYLLSFPAGKTPVPAGEEEGELGEY
RQKLLMFLEISSYYDPGRLICDFPFDGLLEERALLLGRMGKHEQALFIYVHILKDTRMAE
EYCHKHYDRNKDGNKDVYLSLLRMYLSPPSIHCLGPIKLELLEPKANLQAALQVLELHHS
KLDTTKALNLLPANTQINDIRIFLEKVLEENAQKKRFNQVLKNLLHAEFLRVQEERILHQ
QVKCIITEEKVCMVCKKKIGNSAFARYPNGVVVHYFCSKE
VNPADT
Sequence length 886
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.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebellar ataxia Uncertain significance rs2548090332 RCV003459147
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Merkel Cell Associate 21454559, 35336880
Retinoblastoma Associate 21454559