VPS54 - VPS54 subunit of GARP complex Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51542

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	3172165	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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 Set	/	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
Others	VPS54	NCBI