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VPS39 - VPS39 subunit of HOPS complex Gene

Also Known as TLP; VAM6; hVam6p

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23339

About VPS39

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:42,158,701-42,208,304 (from NCBI)

This gene has 14 transcripts (splice variants), 210 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 16.3), thyroid (RPKM 14.7) and 25 other tissues.

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 receptor complex to the Smad pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

VPS39 Products (2)

mRNA	Protein	Name
NM_001301138.3	NP_001288067.1	vam6/Vps39-like protein isoform a
NM_015289.5	NP_056104.2	vam6/Vps39-like protein isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23901104	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagosome-lysosome fusion	IDA IDA: Inferred from direct assay	33422265	GOA
involved in autophagy	IMP IMP: Inferred from mutant phenotype	24554770	GOA
involved in endocytic recycling	IMP IMP: Inferred from mutant phenotype	25266290	GOA
involved in endosomal vesicle fusion	IDA IDA: Inferred from direct assay	23167963	GOA
involved in endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	25266290	GOA
involved in late endosome to lysosome transport	IDA IDA: Inferred from direct assay	23167963	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of HOPS complex	IDA IDA: Inferred from direct assay	19109425	GOA
located in late endosome	IDA IDA: Inferred from direct assay	33422265	GOA
located in late endosome membrane	IDA IDA: Inferred from direct assay	23167963	GOA
part of lysosomal HOPS complex	IDA IDA: Inferred from direct assay	33422265	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	23167963	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VPS39 Protein Structure

CNH

Vps39_1

Vps39_2

0
200
400
600
800
886 a.a.

Protein Preferred Names	Protein Names
vam6/Vps39-like protein	TRAP1-like protein

VPS39 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	VPS39	Q96JC1	VPS18	Homo sapiens	Q9P253	Anti Tag CoIP	33422265
Intra	VPS39	Q96JC1	RAB7A	Homo sapiens	P51149	Anti Tag CoIP	33947832
Cross	VPS39	Q96JC1	ap3a_sars2	SARS-CoV-2	P0DTC3	Anti Tag CoIP	34706264
Cross	VPS39	Q96JC1	ap3a_sars2	SARS-CoV-2	P0DTC3	Anti Tag CoIP	33947832
Cross	VPS39	Q96JC1	ap3a_sars2	SARS-CoV-2	P0DTC3	Confocal	34706264
Cross	VPS39	Q96JC1	ap3a_sars2	SARS-CoV-2	P0DTC3	Pull Down	33947832
Intra	VPS39	Q96JC1	STX17	Homo sapiens	P56962	Anti Tag CoIP	24554770
Intra	VPS39	Q96JC1	STX17	Homo sapiens	P56962	Anti Tag CoIP	33422265
Intra	VPS39	Q96JC1	VPS11	Homo sapiens	Q9H270	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Hermansky-Pudlak Syndrome 5	HPS5 Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 5 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15690	VPS39 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	VPS39	VGNC	VGNC:48290
Bos taurus	VPS39	VGNC	VGNC:36822
Macaca mulatta	VPS39	VGNC	VGNC:79257
Mus musculus	VPS39	MGD	MGI:2443189
Felis catus	VPS39	VGNC	VGNC:66967
Rattus norvegicus	VPS39	RGD	RGD:1304858
Others	VPS39	NCBI