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.
42
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mucopolysaccharidosis-plus syndrome Likely pathogenic rs767748011 RCV000415625
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthrogryposis, renal dysfunction, and cholestasis 1 Arthrogryposis, Renal Dysfunction, And Cholestasis BEFREE 23918659
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 31070736 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Dysplasia Of The Hip Developmental dysplasia of the hip HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital Epicanthus Congenital Epicanthus HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital pectus carinatum Congenital Pectus Carinatum HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital pectus excavatum Congenital Pectus Excavatum HPO_DG
★☆☆☆☆
Found in Text Mining only
Edema Edema Pubtator 36232726 Associate
★☆☆☆☆
Found in Text Mining only
Focal glomerulosclerosis Glomerulosclerosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only