VPS53 (VPS53 subunit of GARP complex)

2003-05-01  

Identity

HGNC
VPS53
LOCATION
17p13.3
LOCUSID
55275
ALIAS
HCCS1,PCH2E,hVps53L,pp13624
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/favicon/tumors-explorer/humanGenome