Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23339
Gene name Gene Name - the full gene name approved by the HGNC.
VPS39 subunit of HOPS complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VPS39
Synonyms (NCBI Gene) Gene synonyms aliases
TLP, VAM6, hVam6p
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 31806350
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005765 Component Lysosomal membrane IDA 23167963
GO:0006886 Process Intracellular protein transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612188 20593 ENSG00000166887
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
21466612
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
21466612
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
21466612
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
23042115
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Merkel Cell Associate 21454559, 35336880
Retinoblastoma Associate 21454559