VPS50 - VPS50 subunit of EARP/GARPII complex Gene

Homo sapiens

Also known as NEDMSC; VPS54L; CCDC132

Gene ID: 55610 | Gene type: protein coding

About VPS50

Cytogenetic location: 7q21.2-q21.3 Genomic coordinates (GRCh38): 7:93,232,366-93,361,123 (from NCBI)

This gene has 21 transcripts (splice variants), 216 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 5.6), thyroid (RPKM 4.2) and 25 other tissues.

Summary

Enables SNARE binding activity. Acts upstream of or within endocytic recycling. Located in recycling endosome. Part of EARP complex. [provided by Alliance of Genome Resources, Apr 2022]

VPS50 Products(3)

mRNA	Protein	Name
NM_001257998.2	NP_001244927.1	syndetin isoform c
NM_017667.4	NP_060137.2	syndetin isoform a
NM_024553.3	NP_078829.1	syndetin isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SNARE binding	IDA IDA: Inferred from direct assay	25799061	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	3172165	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within endocytic recycling	IDA IDA: Inferred from direct assay	25799061	GOA
involved in endocytic recycling	IMP IMP: Inferred from mutant phenotype	25799061	GOA
NOT involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	25799061	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of EARP complex	IDA IDA: Inferred from direct assay	25799061	GOA
part of EARP complex	IPI IPI: Inferred from physical interaction	25799061	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	25799061	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

VPS50 Protein Structure

Vps54_N

DUF2451

0
200
400
600
800
964 a.a.

Protein Preferred Names

Protein Names

syndetin

EARP/GARPII complex subunit VPS50

VPS50 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	VPS50	Q96JG6	VPS51	Homo sapiens	Q9UID3-1	Pull Down	25799061
Intra	VPS50	Q96JG6	VPS51	Homo sapiens	Q9UID3-1	Anti Bait CoIP	25799061
Intra	VPS50	Q96JG6	VPS51	Homo sapiens	Q9UID3-1	TAP	25799061
Intra	VPS50	Q96JG6	VPS52	Homo sapiens	Q8N1B4	Anti Tag CoIP	26496610
Intra	VPS50	Q96JG6	VPS52	Homo sapiens	Q8N1B4	Anti Bait CoIP	25799061
Intra	VPS50	Q96JG6	VPS52	Homo sapiens	Q8N1B4	Anti Tag CoIP	33961781
Intra	VPS50	Q96JG6	VPS52	Homo sapiens	Q8N1B4	Pull Down	25799061
Intra	VPS50	Q96JG6	VPS52	Homo sapiens	Q8N1B4	TAP	25799061
Intra	VPS50	Q96JG6	VPS52	Homo sapiens	Q8N1B4	Anti Tag CoIP	28514442
Intra	VPS50	Q96JG6	VPS53	Homo sapiens	Q5VIR6	Anti Tag CoIP	33961781
Intra	VPS50	Q96JG6	VPS53	Homo sapiens	Q5VIR6	Pull Down	25799061
Intra	VPS50	Q96JG6	VPS53	Homo sapiens	Q5VIR6	Anti Bait CoIP	25799061
Intra	VPS50	Q96JG6	VPS53	Homo sapiens	Q5VIR6	TAP	25799061

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis

NEDMSC

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2	Pontocerebellar Hypoplasia Type 2e
Pch2	PCH2E
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy	Pontocerebellar Hypoplasia 2e
Pcca2	Progressive Cerebello-Cerebral Atrophy Type 2
Doid:0112328	Hypoplasia, Pontocerebellar, Type 2e
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia Type 2a

Cholestasis

Obstruction Of Bile Duct	Bile Duct Obstruction
Bile Occlusion	Extrahepatic Biliary Obstruction
Extrahepatic Bile Duct Obstruction	Bile Stasis
Biliary Stasis	Obstructive Hyperbilirubinemia
Obstructed Jaundice	Bile Duct Obstructed
Bile Ductal Obstruction	Biliary Duct Obstruction
Obstructed Bile Ductal	Obstructed Biliary Duct
Obstructed Biliary Ductal	Jaundice Regurgitation
Obstructive Jaundice	Cholestatic Jaundice
Cholestatic Jaundice Syndrome

Western Equine Encephalitis

Western Equine Encephalomyelitis	Wee
Encephalomyelitis, Western Equine	Western Equine Encephalitis Virus Infection
Wee - [Western Equine Encephalitis]	Western Equine Encephalitis Virus

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS15695	VPS50 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	VPS50	VGNC	VGNC:79561
Rattus norvegicus	VPS50	RGD	RGD:1304751
Felis catus	VPS50	VGNC	VGNC:66971
Bos taurus	VPS50	VGNC	VGNC:36826
Mus musculus	VPS50	MGD	MGI:1920538
Canis familiaris	VPS50	VGNC	VGNC:48294

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