VPS53 - VPS53 subunit of GARP complex Gene

Homo sapiens

Also known as HCCS1; PCH2E; hVps53L; pp13624

Gene ID: 55275 | Gene type: protein coding

About VPS53

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:508,668-714,839 (from NCBI)

This gene has 72 transcripts (splice variants), 1 gene allele, 221 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 6.1), brain (RPKM 5.4) and 25 other tissues.

Summary

This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008]

VPS53 Products(4)

mRNA	Protein	Name
NM_001128159.3	NP_001121631.1	vacuolar protein sorting-associated protein 53 homolog isoform 1
NM_001366253.2	NP_001353182.1	vacuolar protein sorting-associated protein 53 homolog isoform 3
NM_001366254.2	NP_001353183.1	vacuolar protein sorting-associated protein 53 homolog isoform 4
NM_018289.4	NP_060759.2	vacuolar protein sorting-associated protein 53 homolog isoform 2

VPS53 Protein Structure

Vps53_N

0
200
400
600
699 a.a.

Protein Preferred Names

Protein Names

vacuolar protein sorting-associated protein 53 homolog

VPS53, 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

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2d	Pcca
PCH2D	Progressive Cerebello-Cerebral Atrophy
Cerebellocerebral Atrophy, Progressive	Pontocerebellar Hypoplasia 2d
Progressive Cerebellocerebral Atrophy	Hypoplasia, Pontocerebellar, Type 2d

Pontocerebellar Hypoplasia

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

Non-Syndromic Pontocerebellar Hypoplasia

Pontoneocerebellar Hypoplasia	Pch
Pontoneocerebellar Atrophy

Cerebral Atrophy

Pontocerebellar Hypoplasia, Type 11

PCH11	Pontocerebellar Hypoplasia Type 11
Pontocerebellar Hypoplasia Due To Tbc1d23	Pontocerebellar Hypoplasia 11
Doid:0112324

Noonan Syndrome-Like Disorder With Loose Anagen Hair 2

NSLH2

Pontocerebellar Hypoplasia, Type 2f

PCH2F	Pontocerebellar Hypoplasia Type 2f
Pontocerebellar Hypoplasia 2f	Doid:0112329
Hypoplasia, Pontocerebellar, Type 2f

Omodysplasia 2

OMOD2	Omodysplasia, Autosomal Dominant
Autosomal Dominant Omodysplasia	Omodysplasia Type 2
Omodysplasia, Type 2

Pontocerebellar Hypoplasia, Type 4

Pontocerebellar Hypoplasia Type 4	PCH4
Olivopontocerebellar Hypoplasia	Encephalopathy Fatal Infantile With Olivopontocerebellar Hypoplasia
Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia	Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia
Pontocerebellar Hypoplasia 4	Young Mckeever Squier Syndrome
Hypoplasia, Pontocerebellar, Type 4

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-RS15698	VPS53 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	VPS53	RGD	RGD:1311391
Bos taurus	VPS53	VGNC	VGNC:36829
Felis catus	VPS53	VGNC	VGNC:66973
Canis familiaris	VPS53	VGNC	VGNC:48297
Mus musculus	VPS53	MGD	MGI:1915549
Macaca mulatta	VPS53	VGNC	VGNC:79522

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