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
183675452008Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes.62
196202882009Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network.53
158783292005Characterization of the human GARP (Golgi associated retrograde protein) complex.45
176664312007The tail-anchoring domain of Bfl1 and HCCS1 targets mitochondrial membrane permeability to induce apoptosis.15
281893962017Hepatocellular carcinoma suppressor 1 promoter hypermethylation in serum. A diagnostic and prognostic study in hepatitis B.4
169532162006Transcription of the putative tumor suppressor gene HCCS1 requires binding of ETS-2 to its consensus near the transcription start site.1
322090572020Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.0

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