VPS33A (VPS33A core subunit of CORVET and HOPS complexes)

2012-03-01  

Identity

HGNC
VPS33A
LOCATION
12q24.31
LOCUSID
65082
ALIAS
MPSPS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 65082
MIM: 610034
HGNC: 18179
Ensembl: ENSG00000139719

Variants:

dbSNP: 65082
ClinVar: 65082
TCGA: ENSG00000139719
COSMIC: VPS33A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139719ENST00000267199Q96AX1
ENSG00000139719ENST00000451053F5H6Y0
ENSG00000139719ENST00000536212F5H2X5
ENSG00000139719ENST00000541169A0A2R8Y5U3
ENSG00000139719ENST00000543633F5H7N5
ENSG00000139719ENST00000544349A0A2R8Y5F6
ENSG00000139719ENST00000643696A0A2R8YF87

Expression (GTEx)

0
5
10
15
20
25
30
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

References

Pubmed IDYearTitleCitations
306552942019A VPS33A-binding motif on syntaxin 17 controls autophagy completion in mammalian cells.19
308980382019Elevated pulmonary tuberculosis biomarker miR-423-5p plays critical role in the occurrence of active TB by inhibiting autophagosome-lysosome fusion.24
310707362019The lysosomal disease caused by mutant VPS33A.14
306552942019A VPS33A-binding motif on syntaxin 17 controls autophagy completion in mammalian cells.19
308980382019Elevated pulmonary tuberculosis biomarker miR-423-5p plays critical role in the occurrence of active TB by inhibiting autophagosome-lysosome fusion.24
310707362019The lysosomal disease caused by mutant VPS33A.14
275479152017A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.15
280132942017Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.26
286739652017Accumulation of autophagosomes confers cytotoxicity.72
275479152017A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.15
280132942017Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.26
286739652017Accumulation of autophagosomes confers cytotoxicity.72
257832032015Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes.69
257832032015Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes.69
222039542012Targeting protein-trafficking pathways alters melanoma treatment sensitivity.11

Citation

Dessen P

VPS33A (VPS33A core subunit of CORVET and HOPS complexes)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52644/vps33a-(vps33a-core-subunit-of-corvet-and-hops-complexes)