VPS51 - VPS51 subunit of GARP complex Gene

Also Known as FFR; ANG2; ANG3; PCH13; C11orf2; C11orf3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 738

About VPS51

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,096,214-65,111,862 (from NCBI)

This gene has 17 transcripts (splice variants), 203 orthologues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 41.5), colon (RPKM 30.6) and 25 other tissues.

Summary

This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

VPS51 Products (1)

mRNA Protein Name
NM_013265.4 NP_037397.2 vacuolar protein sorting-associated protein 51 homolog
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
3172165 GOA
Biological Process GO Annotation Evidence References Source
involved in autophagy IMP
IMP: Inferred from mutant phenotype
20685960 GOA
involved in brain morphogenesis IDA
IDA: Inferred from direct assay
30624672 GOA
involved in endocytic recycling IMP
IMP: Inferred from mutant phenotype
25799061 GOA
acts upstream of or within lysosomal transport IMP
IMP: Inferred from mutant phenotype
25799061 GOA
involved in retrograde transport, endosome to Golgi IDA
IDA: Inferred from direct assay
20685960 GOA
acts upstream of or within retrograde transport, endosome to Golgi IMP
IMP: Inferred from mutant phenotype
25799061 GOA
Cellular Component GO Annotation Evidence References 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
part of GARP complex IDA
IDA: Inferred from direct assay
20685960 GOA
located in Golgi apparatus IDA
IDA: Inferred from direct assay
20685960 GOA
located in membrane IDA
IDA: Inferred from direct assay
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

VPS51 Protein Structure

Vps51

Vps51: Vps51/Vps67 (64 - 146)

  • 0
  • 200
  • 400
  • 600
  • 782 a.a.
Protein Preferred Names Protein Names

vacuolar protein sorting-associated protein 51 homolog

  • VPS51, GARP complex subunit

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 13
  • PCH13

  • Pontocerebellar Hypoplasia Type 13

  • Pontocerebellar Hypoplasia 13

  • Doid:0112332

  • Hypoplasia, Pontocerebellar, Type 13

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

Pontocerebellar Hypoplasia
  • Pch

  • Congenital Pontocerebellar Hypoplasia

  • Opch

  • Hypoplasia, Pontocerebellar

  • Pontoneocerebellar Hypoplasia

  • Nonsyndromic Pontocerebellar Hypoplasia

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta VPS51 VGNC VGNC:97839
Mus musculus VPS51 MGD MGI:1915755
Bos taurus VPS51 VGNC VGNC:36827
Canis familiaris VPS51 VGNC VGNC:48295
Felis catus VPS51 VGNC VGNC:66972
Rattus norvegicus VPS51 RGD RGD:2319165
Others VPS51 NCBI