VPS8 - VPS8 subunit of CORVET complex Gene

Also Known as KIAA0804

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23355

About VPS8

Cytogenetic location: 3q27.2 Genomic coordinates (GRCh38): 3:184,812,166-185,052,614 (from NCBI)

This gene has 28 transcripts (splice variants), 215 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 8.2), brain (RPKM 7.7) and 25 other tissues.

Summary

Predicted to enable metal ion binding activity. Involved in endosomal vesicle fusion. Located in early endosome. [provided by Alliance of Genome Resources, Apr 2022]

VPS8 Products (9)

mRNA Protein Name
NM_001009921.3 NP_001009921.1 vacuolar protein sorting-associated protein 8 homolog isoform a
NM_001349292.2 NP_001336221.1 vacuolar protein sorting-associated protein 8 homolog isoform a
NM_001349293.2 NP_001336222.1 vacuolar protein sorting-associated protein 8 homolog isoform a
NM_001349294.2 NP_001336223.1 vacuolar protein sorting-associated protein 8 homolog isoform a
NM_001349295.1 NP_001336224.1 vacuolar protein sorting-associated protein 8 homolog isoform a
NM_001349296.2 NP_001336225.1 vacuolar protein sorting-associated protein 8 homolog isoform c
NM_001349297.2 NP_001336226.1 vacuolar protein sorting-associated protein 8 homolog isoform d
NM_001349298.2 NP_001336227.1 vacuolar protein sorting-associated protein 8 homolog isoform e
NM_015303.4 NP_056118.2 vacuolar protein sorting-associated protein 8 homolog isoform b
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25266290 GOA
Biological Process GO Annotation Evidence References Source
involved in endosomal vesicle fusion IMP
IMP: Inferred from mutant phenotype
25266290 GOA
Cellular Component GO Annotation Evidence References Source
located in early endosome IDA
IDA: Inferred from direct assay
25266290 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

VPS8 Protein Structure

Vps8

Vps8: Golgi CORVET complex core vacuolar protein 8 (612 - 796)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1428 a.a.
Protein Preferred Names Protein Names

vacuolar protein sorting-associated protein 8 homolog

  • VPS8, CORVET complex subunit

VPS8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
VPS8 Q8N3P4 TGFBRAP1 Homo sapiens Q8WUH2 35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ritscher-Schinzel Syndrome 1
  • 3c Syndrome

  • Craniocerebellocardiac Dysplasia

  • RTSC1

  • Dandy-Walker-Like Malformation With Atrioventricular Septal Defect

  • Dandy-Walker Like Malformation With Atrioventricular Septal Defect

  • Cranio-Cerebello-Cardiac Dysplasia

  • Dandy-Walker-Like Malformation With Asd

  • Ritscher Schinzel Syndrome

  • Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome

  • Ritscher-Schinzel Syndrome

  • 3c

Hermansky-Pudlak Syndrome
  • Hps

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • Hermanski-Pudlak Syndrome

  • Hermansky Pudlak Syndrome

  • Platelet Storage Pool Deficiency

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
Rattus norvegicus VPS8 RGD RGD:1309443
Felis catus VPS8 VGNC VGNC:97683
Macaca mulatta VPS8 VGNC VGNC:79779
Mus musculus VPS8 MGD MGI:2146407
Bos taurus VPS8 VGNC VGNC:36832
Canis familiaris VPS8 VGNC VGNC:48300