Gene Gene information from NCBI Gene database.
Entrez ID 65082
Gene name VPS33A core subunit of CORVET and HOPS complexes
Gene symbol VPS33A
Synonyms (NCBI Gene)
MPSPS
Chromosome 12
Chromosome location 12q24.31
Summary This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform div
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs767748011 G>A Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
382
miRTarBase ID miRNA Experiments Reference
MIRT027508 hsa-miR-98-5p Microarray 19088304
MIRT029192 hsa-miR-26b-5p Microarray 19088304
MIRT552930 hsa-miR-30e-5p PAR-CLIP 21572407
MIRT552929 hsa-miR-30d-5p PAR-CLIP 21572407
MIRT552928 hsa-miR-30a-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19109425, 20190753, 20562859, 23901104, 24554770, 25783203, 26496610, 28013294, 28325809, 29778605, 32296183, 32814053, 33422265, 33961781, 35271311
GO:0005764 Component Lysosome IBA
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610034 18179 ENSG00000139719
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96AX1
Protein name Vacuolar protein sorting-associated protein 33A (hVPS33A)
Protein function Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes
PDB 4BX8 , 4BX9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00995 Sec1 34 590 Sec1 family Family
Sequence
Sequence length 596
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Autophagy - animal
Efferocytosis
Salmonella infection
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mucopolysaccharidosis-plus syndrome Likely pathogenic rs767748011 RCV000415625
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs35030971 RCV005914828
Clear cell carcinoma of kidney Benign rs34996966 RCV005914232
Familial cancer of breast Benign rs35030971 RCV005914824
Gastric cancer Benign rs35030971 RCV005914826
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 36153662
Ascites Associate 36232726
Blood Platelet Disorders Associate 31070736
Choroidal Effusions Associate 36232726
Edema Associate 36232726
Kidney Diseases Associate 31070736
Lysosomal Storage Diseases Associate 31070736
Melanoma Associate 22203954
Mucopolysaccharidosis I Associate 31070736, 31936524, 35628659, 36153662, 36232726, 37628632
Obesity Abdominal Associate 36232726