VPS8 - VPS8 subunit of CORVET complex Gene

Homo sapiens

Also known as KIAA0804

Gene ID: 23355 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25266290	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endosomal vesicle fusion	IMP IMP: Inferred from mutant phenotype	25266290	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	VPS8	Q8N3P4	TGFBRAP1	Homo sapiens	Q8WUH2	Anti Tag CoIP	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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15701	VPS8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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