VPS50 - VPS50 subunit of EARP/GARPII complex Gene

Also Known as NEDMSC; VPS54L; CCDC132

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 55610

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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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

Vps54_N: Vacuolar-sorting protein 54, of GARP complex (54 - 345)

DUF2451

DUF2451: Protein of unknown function C-terminus (DUF2451) (723 - 958)

  • 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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS15695 VPS50 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others VPS50 NCBI