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Aliases for VPS33A Gene

Aliases for VPS33A Gene

  • VPS33A, CORVET/HOPS Core Subunit 2 3 5
  • Vacuolar Protein Sorting 33 Homolog A (S. Cerevisiae) 2
  • Vacuolar Protein Sorting-Associated Protein 33A 3
  • Vacuolar Protein Sorting 33 Homolog A 3
  • Vacuolar Protein Sorting 33A (Yeast) 2
  • Vacuolar Protein Sorting 33A 3
  • HVPS33A 4
  • MPSPS 3

External Ids for VPS33A Gene

Previous GeneCards Identifiers for VPS33A Gene

  • GC12M121416
  • GC12P122609
  • GC12M122524
  • GC12M121153
  • GC12M121241
  • GC12M121282
  • GC12M122716
  • GC12M119676

Summaries for VPS33A Gene

Entrez Gene Summary for VPS33A 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 diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]

GeneCards Summary for VPS33A Gene

VPS33A (VPS33A, CORVET/HOPS Core Subunit) is a Protein Coding gene. Diseases associated with VPS33A include Mucopolysaccharidosis and Hermansky-Pudlak Syndrome 5. An important paralog of this gene is ENSG00000256861.

UniProtKB/Swiss-Prot for VPS33A Gene

  • 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 which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS16 but not VIPAS39 (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770).

Gene Wiki entry for VPS33A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS33A Gene

Genomics for VPS33A Gene

Regulatory Elements for VPS33A Gene

Enhancers for VPS33A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G122365 1.6 Ensembl ENCODE dbSUPER 11.1 -101.4 -101365 4.8 PKNOX1 FOXA2 CREB3L1 ARNT ARID4B FEZF1 DMAP1 ZNF2 ZNF766 FOS CLIP1 SETD1B DIABLO ENSG00000252192 ENSG00000256861 VPS33A ZCCHC8 RPL21P1 CLIP1-AS1
GH12G122243 0.7 ENCODE 24.7 +21.8 21823 2.5 HDAC1 SAP130 ARID4B RBBP5 ZNF48 ZBTB40 GATA3 GATA2 EED MTA2 VPS33A LRRC43 ENSG00000256861 B3GNT4 ENSG00000280389 DIABLO
GH12G122317 0.9 Ensembl ENCODE 15.8 -52.4 -52361 1.8 JUN HLF CEBPB REST JUND PRDM6 ZNF600 FOS VPS33A CCDC150P1 ENSG00000256861 DIABLO HCAR3 CDK2AP1 ZCCHC8 ABCB9 GC12M122268
GH12G122350 1.2 ENCODE dbSUPER 10.6 -84.0 -83971 0.7 RB1 ZSCAN4 ARID4B SIN3A FEZF1 ZNF2 RAD21 YY1 ZNF335 GLIS2 ENSG00000252192 DIABLO VPS33A ENSG00000256861 RPL21P1 CCDC150P1
GH12G122222 1.1 ENCODE 11.3 +40.7 40729 6.2 HDGF PKNOX1 MLX CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ENSG00000256861 VPS33A LRRC43 HCAR3 LOC101593348 B3GNT4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VPS33A on UCSC Golden Path with GeneCards custom track

Promoters for VPS33A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000058576 21 2200 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143

Genomic Location for VPS33A Gene

Chromosome:
12
Start:
122,229,564 bp from pter
End:
122,266,521 bp from pter
Size:
36,958 bases
Orientation:
Minus strand

Genomic View for VPS33A Gene

Genes around VPS33A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS33A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS33A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS33A Gene

Proteins for VPS33A Gene

  • Protein details for VPS33A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AX1-VP33A_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 33A
    Protein Accession:
    Q96AX1
    Secondary Accessions:
    • Q547V4
    • Q9H5Q0

    Protein attributes for VPS33A Gene

    Size:
    596 amino acids
    Molecular mass:
    67611 Da
    Quaternary structure:
    • Core component of at least two putative endosomal tethering complexes, the homotypic fusion and vacuole protein sorting (HOPS) complex and the class C core vacuole/endosome tethering (CORVET) complex. Their common core is composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, which in HOPS further associates with VPS39 and VPS41 and in CORVET with VPS8 and TGFBRAP1 (PubMed:23351085, PubMed:25783203, PubMed:25266290 PubMed:23901104). Interacts with RAB5C (By similarity). Interacts with UVRAG, STX17, MON1A and MON1B (PubMed:18552835, PubMed:20434987, PubMed:24554770). Interacts with VIPAS39; however, this interaction is debated (PubMed:19109425, PubMed:23901104). Associates with adaptor protein complex 3 (AP-3) and clathrin (PubMed:21411634).
    SequenceCaution:
    • Sequence=BAB15570.1; Type=Frameshift; Positions=140; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VPS33A Gene

neXtProt entry for VPS33A Gene

Post-translational modifications for VPS33A Gene

  • Ubiquitination at posLast=7777, Lys126, Lys316, and Lys335
  • Modification sites at PhosphoSitePlus

Other Protein References for VPS33A Gene

No data available for DME Specific Peptides for VPS33A Gene

Domains & Families for VPS33A Gene

Protein Domains for VPS33A Gene

Suggested Antigen Peptide Sequences for VPS33A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96AX1

UniProtKB/Swiss-Prot:

VP33A_HUMAN :
  • Belongs to the STXBP/unc-18/SEC1 family.
Family:
  • Belongs to the STXBP/unc-18/SEC1 family.
genes like me logo Genes that share domains with VPS33A: view

No data available for Gene Families for VPS33A Gene

Function for VPS33A Gene

Molecular function for VPS33A Gene

UniProtKB/Swiss-Prot 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 which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS16 but not VIPAS39 (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770).

Gene Ontology (GO) - Molecular Function for VPS33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19109425
genes like me logo Genes that share ontologies with VPS33A: view
genes like me logo Genes that share phenotypes with VPS33A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VPS33A Gene

Localization for VPS33A Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS33A Gene

Cytoplasmic vesicle. Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Early endosome. Cytoplasmic vesicle, autophagosome. Cytoplasmic vesicle, clathrin-coated vesicle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VPS33A gene
Compartment Confidence
lysosome 5
endosome 5
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for VPS33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IDA,IEA 17897319
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA,IEA 19109425
GO:0005770 late endosome IDA 19109425
genes like me logo Genes that share ontologies with VPS33A: view

Pathways & Interactions for VPS33A Gene

SuperPathways for VPS33A Gene

No Data Available

Gene Ontology (GO) - Biological Process for VPS33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006904 vesicle docking involved in exocytosis IEA --
GO:0006914 autophagy IEA --
GO:0008333 endosome to lysosome transport IMP 25783203
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with VPS33A: view

No data available for Pathways by source and SIGNOR curated interactions for VPS33A Gene

Drugs & Compounds for VPS33A Gene

No Compound Related Data Available

Transcripts for VPS33A Gene

Unigene Clusters for VPS33A Gene

Vacuolar protein sorting 33 homolog A (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for VPS33A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - - - - -
SP2: - - -
SP3:
SP4:
SP5: - -
SP6:
SP7: - -
SP8:
SP9: -

Relevant External Links for VPS33A Gene

GeneLoc Exon Structure for
VPS33A
ECgene alternative splicing isoforms for
VPS33A

Expression for VPS33A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VPS33A Gene

Protein differential expression in normal tissues from HIPED for VPS33A Gene

This gene is overexpressed in Bone (17.4) and Peripheral blood mononuclear cells (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VPS33A Gene



Protein tissue co-expression partners for VPS33A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VPS33A Gene:

VPS33A

SOURCE GeneReport for Unigene cluster for VPS33A Gene:

Hs.592009

Evidence on tissue expression from TISSUES for VPS33A Gene

  • Intestine(4.2)
  • Lung(4.1)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with VPS33A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS33A Gene

Orthologs for VPS33A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS33A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VPS33A 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
OneToMany
VPS33A 34
  • 90.32 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 95 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
ManyToMany
-- 35
  • 89 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia VPS33A 34 35
  • 90.6 (n)
mouse
(Mus musculus)
Mammalia Vps33a 34 16 35
  • 86.91 (n)
rat
(Rattus norvegicus)
Mammalia Vps33a 34
  • 86.13 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 91 (a)
OneToMany
VPS33A 34
  • 78.79 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia vps33a 34
  • 75.13 (n)
zebrafish
(Danio rerio)
Actinopterygii BX510999.1 35
  • 84 (a)
ManyToMany
vps33a 34 35
  • 73.29 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003203 34
  • 52.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta car 36 34 35
  • 49.43 (n)
worm
(Caenorhabditis elegans)
Secernentea B0303.9 36
  • 25 (a)
vps-33.1 35
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS33 35 37
  • 20 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ATVPS33 34
  • 47.9 (n)
rice
(Oryza sativa)
Liliopsida Os04g0223000 34
  • 49.03 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3653 35
  • 53 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU09121 34
  • 47.75 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vps33 34
  • 45.99 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13276 34
Species where no ortholog for VPS33A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VPS33A Gene

ENSEMBL:
Gene Tree for VPS33A (if available)
TreeFam:
Gene Tree for VPS33A (if available)

Paralogs for VPS33A Gene

Variants for VPS33A Gene

Sequence variations from dbSNP and Humsavar for VPS33A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_078032 Mucopolysaccharidosis-plus syndrome (MPSPS) [MIM:617303]
rs767748011 Pathogenic 122,232,917(+) CAGCC(A/G)CACAC reference, missense
rs1000059412 -- 122,252,862(+) GCAAA(C/T)GCTCA intron-variant
rs1000193873 -- 122,235,594(+) ACTCC(C/T)CAGTT intron-variant
rs1000385697 -- 122,247,732(+) ATCTA(C/G)TTCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VPS33A Gene

Variant ID Type Subtype PubMed ID
esv3630972 CNV loss 21293372
esv3630973 CNV gain 21293372
nsv1122777 CNV deletion 24896259
nsv1125561 CNV tandem duplication 24896259

Variation tolerance for VPS33A Gene

Residual Variation Intolerance Score: 8.85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.76; 66.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VPS33A Gene

Human Gene Mutation Database (HGMD)
VPS33A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS33A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS33A Gene

Disorders for VPS33A Gene

MalaCards: The human disease database

(4) MalaCards diseases for VPS33A Gene - From: ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis
  • mps
hermansky-pudlak syndrome 5
  • hps 5
charcot-marie-tooth disease, axonal, type 2l
  • charcot-marie-tooth disease axonal type 2l
pancreatitis, hereditary
  • pancreatitis, chronic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for VPS33A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VPS33A
genes like me logo Genes that share disorders with VPS33A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VPS33A Gene

Publications for VPS33A Gene

  1. Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity. (PMID: 26463206) van der Kant R. … Neefjes J. (J. Biol. Chem. 2015) 2 3 64
  2. Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes. (PMID: 25783203) Wartosch L. … Luzio J.P. (Traffic 2015) 3 4 64
  3. The HOPS complex mediates autophagosome-lysosome fusion through interaction with syntaxin 17. (PMID: 24554770) Jiang P. … Mizushima N. (Mol. Biol. Cell 2014) 3 4 64
  4. Tethering complexes in the endocytic pathway: CORVET and HOPS. (PMID: 23351085) Solinger J.A. … Spang A. (FEBS J. 2013) 3 4 64
  5. Structural basis of Vps33A recruitment to the human HOPS complex by Vps16. (PMID: 23901104) Graham S.C. … Owen D.J. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64

Products for VPS33A Gene

Sources for VPS33A Gene

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