VPS53 - VPS53 subunit of GARP complex Gene

Also Known as HCCS1; PCH2E; hVps53L; pp13624

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55275

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

VPS53 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	VPS53	Q5VIR6	VPS50	Homo sapiens	Q96JG6	Anti Bait CoIP	25799061
Intra	VPS53	Q5VIR6	VPS50	Homo sapiens	Q96JG6	Anti Tag CoIP	25799061
Intra	VPS53	Q5VIR6	VPS50	Homo sapiens	Q96JG6	TAP	25799061
Intra	VPS53	Q5VIR6	VPS50	Homo sapiens	Q96JG6	Anti Tag CoIP	33961781
Intra	VPS53	Q5VIR6	VPS50	Homo sapiens	Q96JG6	Anti Tag CoIP	28514442
Intra	VPS53	Q5VIR6	VPS50	Homo sapiens	Q96JG6	Y2H	25799061
Intra	VPS53	Q5VIR6	VPS54	Homo sapiens	Q9P1Q0	TAP	25799061
Intra	VPS53	Q5VIR6	VPS54	Homo sapiens	Q9P1Q0	Anti Tag CoIP	33961781
Intra	VPS53	Q5VIR6	VPS54	Homo sapiens	Q9P1Q0	Y2H	25799061

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15698	VPS53 Human Pre-designed siRNA Set A	Pre-designed Set	/	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