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Aliases for VPS33A Gene

Aliases for VPS33A Gene

  • VPS33A, CORVET/HOPS Core Subunit 2 3 5
  • HVPS33A 3 4
  • 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

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

  • Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]

GeneCards Summary for VPS33A Gene

VPS33A (VPS33A, CORVET/HOPS Core Subunit) is a Protein Coding gene. Diseases associated with VPS33A include 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 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
- Elite enhancer/Elite enhancer-gene association

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

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 vacuaole/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 Lys 77, Lys 126, Lys 316, and Lys 335
  • 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

InterPro:
Blocks:
ProtoNet:

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

Flow Cytometry 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
Jensen Localization Image for VPS33A Gene COMPARTMENTS Subcellular localization image for VPS33A gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for VPS33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005769 early endosome IDA 19109425
GO:0005770 late endosome IDA 19109425
GO:0005776 autophagosome IEA --
GO:0030123 colocalizes_with AP-3 adaptor complex IDA 21411634
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:0006904 vesicle docking involved in exocytosis IEA --
GO:0008333 endosome to lysosome transport IMP 25783203
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IDA 15790593
GO:0030220 platelet formation ISS --
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

Flow Cytometry 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 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
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 and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia VPS33A 34
  • 90.6 (n)
  • 97.99 (a)
VPS33A 35
  • 98 (a)
OneToMany
dog
(Canis familiaris)
Mammalia VPS33A 34
  • 90.32 (n)
  • 98.32 (a)
-- 35
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Vps33a 34
  • 86.91 (n)
  • 97.82 (a)
Vps33a 16
Vps33a 35
  • 97 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia VPS33A 34
  • 99.38 (n)
  • 100 (a)
VPS33A 35
  • 100 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Vps33a 34
  • 86.13 (n)
  • 97.32 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 95 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 89 (a)
ManyToMany
-- 35
  • 93 (a)
ManyToMany
chicken
(Gallus gallus)
Aves VPS33A 34
  • 78.79 (n)
  • 91.75 (a)
-- 35
  • 91 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia vps33a 34
  • 75.13 (n)
  • 86.1 (a)
zebrafish
(Danio rerio)
Actinopterygii vps33a 34
  • 73.29 (n)
  • 84.68 (a)
BX510999.1 35
  • 84 (a)
ManyToMany
vps33a 35
  • 83 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta car 36
  • 43 (a)
car 34
  • 49.43 (n)
  • 45.88 (a)
car 35
  • 44 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003203 34
  • 52.61 (n)
  • 50.85 (a)
worm
(Caenorhabditis elegans)
Secernentea B0303.9 36
  • 25 (a)
vps-33.1 35
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS33 35
  • 20 (a)
OneToMany
VPS33 37
thale cress
(Arabidopsis thaliana)
eudicotyledons ATVPS33 34
  • 47.9 (n)
  • 39.34 (a)
rice
(Oryza sativa)
Liliopsida Os04g0223000 34
  • 49.03 (n)
  • 40.25 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13276 34
bread mold
(Neurospora crassa)
Ascomycetes NCU09121 34
  • 47.75 (n)
  • 40.46 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vps33 34
  • 45.99 (n)
  • 35.29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3653 35
  • 53 (a)
OneToMany
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

Paralogs for VPS33A Gene

genes like me logo Genes that share paralogs with VPS33A: view

Variants for VPS33A Gene

Sequence variations from dbSNP and Humsavar for VPS33A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs34996966 - 122,249,880(+) CTGAA(G/T)GCCAT reference, missense
rs7307891 -- 122,246,626(+) acaca(A/G)tctca intron-variant
rs1967291 -- 122,251,908(+) CCCTA(A/G)AACTT intron-variant
rs7313705 -- 122,237,620(+) ctcac(C/T)gcaag intron-variant
rs2068223 -- 122,231,521(+) GATGC(A/G)CCTTG downstream-variant-500B

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

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

(1) MalaCards diseases for VPS33A Gene - From: DISEASES

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 5
  • delta storage pool disease
- 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 65
  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 65
  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 65
  4. 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 65
  5. Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells. (PMID: 21411634) Zlatic S.A. … Faundez V. (Mol. Biol. Cell 2011) 3 4 65

Products for VPS33A Gene

Sources for VPS33A Gene

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