VPS54 - VPS54 subunit of GARP complex Gene

Homo sapiens

Also known as WR; HCC8; SLP-8p; VPS54L; hVps54L; PPP1R164

Gene ID: 51542 | Gene type: protein coding

About VPS54

Cytogenetic location: 2p15-p14 Genomic coordinates (GRCh38): 2:63,892,150-64,019,428 (from NCBI)

This gene has 4 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in thyroid (RPKM 11.2), prostate (RPKM 10.0) and 25 other tissues.

Summary

This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]

VPS54 Products(2)

mRNA	Protein	Name
NM_001005739.2	NP_001005739.1	vacuolar protein sorting-associated protein 54 isoform 2
NM_016516.3	NP_057600.2	vacuolar protein sorting-associated protein 54 isoform 1

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
acts upstream of or within lysosomal transport	IMP IMP: Inferred from mutant phenotype	25799061	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 GARP complex	IDA IDA: Inferred from direct assay	19620288	GOA
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15878329	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	15878329	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	25799061	GOA
located in trans-Golgi network	IMP IMP: Inferred from mutant phenotype	25795912	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

VPS54 Protein Structure

Vps54_N

Vps54

0
200
400
600
800
977 a.a.

Protein Preferred Names

Protein Names

vacuolar protein sorting-associated protein 54

VPS54, GARP complex subunit

Related Diseases

Diseases

Alias

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

Spermatogenic Failure 9

Male Infertility Due To Globozoospermia	SPGF9
Male Infertility Due To Round-Headed Spermatozoa	Globozoospermia, Complete
Globozoospermia, Total	Globozoospermia
Globozoospermia Syndrome	Round-Headed Sperm Syndrome
Globozoospermia Complete	Globozoospermia Total

Amyotrophic Lateral Sclerosis Type 12

Amyotrophic Lateral Sclerosis 12	Als12
Sclerosis, Lateral, Amyotrophic, Type Type 12

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2

FTDALS2	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-2
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 2

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3

FTDALS3	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-3
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 3

Amyotrophic Lateral Sclerosis 8

Amyotrophic Lateral Sclerosis Type 8	ALS8
Sclerosis, Lateral, Amyotrophic, Type Type 8

Neuronopathy, Distal Hereditary Motor, Type Viib

HMN7B	Hmn Viib
Dhmn7b	Neuropathy, Distal Hereditary Motor, Type Viib
Distal Hereditary Motor Neuronopathy Type 7b	Distal Hereditary Motor Neuropathy Type Viib
Neuronopathy, Distal Hereditary Motor, Type 7b	Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib
Lower Motor Neuron Disease, Dynactin Type	Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b
Harper-Young Myopathy	Neuronopathy, Distal Hereditary Motor, 7b
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib	Lower Motor Neuron Disease Dynactin Type
Plmnd	Progressive Lower Motor Neuron Disease
Neuropathy, Motor, Distal, Hereditary, Type Viib

Amyotrophic Lateral Sclerosis Type 22

Als 22	Amyotrohpic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 22

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome	CAMRQ1
Des	Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1
Cerebellar Hypoplasia, Vldlr-Associated	Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1
Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome	Uner Tan Syndrome
Vldlr Cerebellar Hypoplasia	Vldlrch
Vldlr-Associated Cerebellar Hypoplasia	Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1
Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive	Camrq
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1	Cerebellar Disorder, Nonprogressive, With Intellectual Disability
Cerebellar Hypoplasia, Vldlr Associated	Autosomal Recessive Cerebellar Ataxia With Mental Retardation
Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification	Cerebellar Disorder, Nonprogressive, With Mental Retardation
Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion	Chmrq1
Des-Vldlr	Dysequilibrium Syndrome-Vldlr
Vldlr-Ch	Camrq Syndrome
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome	Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome
Uts	Cerebellar Hypoplasia Vldlr-Associated
Dialysis Disequilibrium Syndrome

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS15699	VPS54 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	VPS54	VGNC	VGNC:79159
Felis catus	VPS54	VGNC	VGNC:66974
Rattus norvegicus	VPS54	RGD	RGD:628718
Mus musculus	VPS54	MGD	MGI:2178798
Canis familiaris	VPS54	VGNC	VGNC:48298
Bos taurus	VPS54	VGNC	VGNC:36830

Name
Email *

	Sorry, but the email address you supplied was invalid.