VPS53 (VPS53 subunit of GARP complex)

2003-05-01  

Identity

HGNC
LOCATION
17p13.3
LOCUSID
ALIAS
HCCS1,PCH2E,hVps53L,pp13624
FUSION GENES

Other Information

Locus ID:

NCBI: 55275
MIM: 615850
HGNC: 25608
Ensembl: ENSG00000141252

Variants:

dbSNP: 55275
ClinVar: 55275
TCGA: ENSG00000141252
COSMIC: VPS53

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141252ENST00000291074Q5VIR6
ENSG00000141252ENST00000389040F6VX93
ENSG00000141252ENST00000401468E7EVT8
ENSG00000141252ENST00000437048Q5VIR6
ENSG00000141252ENST00000570650I3L184
ENSG00000141252ENST00000571805Q5VIR6
ENSG00000141252ENST00000573028I3L0S6
ENSG00000141252ENST00000574029I3L1W6
ENSG00000141252ENST00000576019I3L4P9

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Retrograde transport at the Trans-Golgi-NetworkREACTOMER-HSA-6811440

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
322090572020Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.2
322090572020Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.2
309157572019HCCS1 inhibits the stemness of human pancreatic cancer stem-like cells.0
314180912019VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.5
309157572019HCCS1 inhibits the stemness of human pancreatic cancer stem-like cells.0
314180912019VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.5
281893962017Hepatocellular carcinoma suppressor 1 promoter hypermethylation in serum. A diagnostic and prognostic study in hepatitis B.15
281893962017Hepatocellular carcinoma suppressor 1 promoter hypermethylation in serum. A diagnostic and prognostic study in hepatitis B.15
196202882009Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network.71
196202882009Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network.71
183675452008Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes.77
183675452008Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes.77
176664312007The tail-anchoring domain of Bfl1 and HCCS1 targets mitochondrial membrane permeability to induce apoptosis.17
176664312007The tail-anchoring domain of Bfl1 and HCCS1 targets mitochondrial membrane permeability to induce apoptosis.17
169532162006Transcription 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/gene-fusions-explorer/css/template-card.css