Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
65082
Gene name Gene Name - the full gene name approved by the HGNC.
VPS33A core subunit of CORVET and HOPS complexes
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VPS33A
Synonyms (NCBI Gene) Gene synonyms aliases
MPSPS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MPSPS
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19109425, 20190753, 20562859, 23901104, 24554770, 25783203, 26496610, 28013294, 32296183, 32814053
GO:0005764 Component Lysosome IBA 21873635
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005769 Component Early endosome IDA 19109425
GO:0005770 Component Late endosome IDA 19109425
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610034 18179 ENSG00000139719
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377
View all (752 more)
Mucopolysaccharidosis-plus syndrome MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME rs767748011 28013294, 27547915
Associations from Text Mining
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