VPS51 - VPS51 subunit of GARP complex Gene

Homo sapiens

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

Gene ID: 738 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	3172165	GOA

Biological Process GO Annotation	Evidence	Reference	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	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
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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15696	VPS51 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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