1. Gene
  2. VPS39 - VPS39 subunit of HOPS complex Gene

VPS39 - VPS39 subunit of HOPS complex Gene

Homo sapiens

Also known as TLP; VAM6; hVam6p

Gene ID: 23339 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
23901104 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

CNH: CNH domain (20 - 290)

Vps39_1

Vps39_1: Vacuolar sorting protein 39 domain 1 (460 - 562)

Vps39_2

Vps39_2: Vacuolar sorting protein 39 domain 2 (772 - 879)

  • 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 Reference
Intra
VPS39 Q96JC1 VPS18 Homo sapiens Q9P253 33422265
Intra
VPS39 Q96JC1 RAB7A Homo sapiens P51149 33947832
Cross
VPS39 Q96JC1 ap3a_sars2 SARS-CoV-2 P0DTC3 34706264
Cross
VPS39 Q96JC1 ap3a_sars2 SARS-CoV-2 P0DTC3 33947832
Cross
VPS39 Q96JC1 ap3a_sars2 SARS-CoV-2 P0DTC3 34706264
Cross
VPS39 Q96JC1 ap3a_sars2 SARS-CoV-2 P0DTC3 33947832
Intra
VPS39 Q96JC1 STX17 Homo sapiens P56962 24554770
Intra
VPS39 Q96JC1 STX17 Homo sapiens P56962 33422265
Intra
VPS39 Q96JC1 VPS11 Homo sapiens Q9H270 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

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