Identity
HGNC
LOCATION
17p13.3
LOCUSID
ALIAS
HCCS1,PCH2E,hVps53L,pp13624
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55275
MIM: 615850
HGNC: 25608
Ensembl: ENSG00000141252
Variants:
dbSNP: 55275
ClinVar: 55275
TCGA: ENSG00000141252
COSMIC: VPS53
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32209057 | 2020 | Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families. | 2 |
| 32209057 | 2020 | Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families. | 2 |
| 30915757 | 2019 | HCCS1 inhibits the stemness of human pancreatic cancer stem-like cells. | 0 |
| 31418091 | 2019 | VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis. | 5 |
| 30915757 | 2019 | HCCS1 inhibits the stemness of human pancreatic cancer stem-like cells. | 0 |
| 31418091 | 2019 | VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis. | 5 |
| 28189396 | 2017 | Hepatocellular carcinoma suppressor 1 promoter hypermethylation in serum. A diagnostic and prognostic study in hepatitis B. | 15 |
| 28189396 | 2017 | Hepatocellular carcinoma suppressor 1 promoter hypermethylation in serum. A diagnostic and prognostic study in hepatitis B. | 15 |
| 19620288 | 2009 | Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network. | 71 |
| 19620288 | 2009 | Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network. | 71 |
| 18367545 | 2008 | Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes. | 77 |
| 18367545 | 2008 | Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes. | 77 |
| 17666431 | 2007 | The tail-anchoring domain of Bfl1 and HCCS1 targets mitochondrial membrane permeability to induce apoptosis. | 17 |
| 17666431 | 2007 | The tail-anchoring domain of Bfl1 and HCCS1 targets mitochondrial membrane permeability to induce apoptosis. | 17 |
| 16953216 | 2006 | Transcription of the putative tumor suppressor gene HCCS1 requires binding of ETS-2 to its consensus near the transcription start site. | 1 |
Citation
Dessen P
VPS53 (VPS53 subunit of GARP complex)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40589/vps53-(vps53-subunit-of-garp-complex)
