VPS33A Gene (Protein Coding)

VPS33A Core Subunit Of CORVET And HOPS Complexes

GC12M122229
GIFtS:
42
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-so... See more...

Aliases for VPS33A Gene

Aliases for VPS33A Gene

  • VPS33A Core Subunit Of CORVET And HOPS Complexes 2 3 5
  • Vacuolar Protein Sorting-Associated Protein 33A 3 4
  • VPS33A, CORVET/HOPS Core Subunit 2 3
  • Vacuolar Protein Sorting 33 Homolog A (S. Cerevisiae) 2
  • Vacuolar Protein Sorting 33 Homolog A 3
  • Vacuolar Protein Sorting 33A (Yeast) 2
  • Vacuolar Protein Sorting 33A 3
  • HVPS33A 4
  • VPS33A 5
  • 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 Core Subunit Of CORVET And HOPS Complexes) is a Protein Coding gene. Diseases associated with VPS33A include Mucopolysaccharidosis-Plus Syndrome and Vulto-Van Silfhout-De Vries Syndrome. Among its related pathways are Salmonella infection (KEGG). An important paralog of this gene is ENSG00000256861.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for VPS33A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VPS33A Gene

Genomics for VPS33A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for VPS33A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J122265 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.2 170 2.6 ZSCAN16 CHD2 TBP ZBTB10 SP1 MXD4 FEZF1 NR2C1 DEK MNT ENSG00000256861 HSALNG0094642 VPS33A RSRC2 ZCCHC8 ENSG00000272849 MTRFR ANAPC5 KNTC1 OGFOD2
GH12J122243 Promoter/Enhancer 0.8 EPDnew ENCODE 274.7 +21.8 21795 2.5 ZBTB40 BHLHE40 TCF7 IKZF1 MTA2 IKZF2 RUNX3 VPS33A LRRC43 ENSG00000256861 B3GNT4 ENSG00000284934 lnc-CLIP1-1
GH12J122242 Promoter 0.3 EPDnew 275.1 +24.0 23967 0.1 VPS33A ENSG00000256861 B3GNT4 LRRC43 ENSG00000284934 lnc-CLIP1-1
GH12J122231 Promoter 0.3 EPDnew 250.3 +34.9 34891 0.1 VPS33A ENSG00000284934 lnc-CLIP1-1 ENSG00000256861
GH12J122232 Promoter 0.3 EPDnew 250.3 +34.1 34093 0.1 VPS33A ENSG00000284934 lnc-CLIP1-1 ENSG00000256861
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VPS33A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VPS33A

Top Transcription factor binding sites by QIAGEN in the VPS33A gene promoter:
  • AhR
  • CUTL1
  • E47
  • FOXO1
  • FOXO1a
  • MIF-1
  • Pbx1a
  • Tal-1beta
  • USF-1
  • USF1

Genomic Locations for VPS33A Gene

Latest Assembly
chr12:122,229,564-122,266,494
(GRCh38/hg38)
Size:
36,931 bases
Orientation:
Minus strand

Previous Assembly
chr12:122,714,111-122,751,041
(GRCh37/hg19 by Entrez Gene)
Size:
36,931 bases
Orientation:
Minus strand

chr12:122,714,111-122,751,068
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for VPS33A Gene

Proteins for VPS33A Gene

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  • 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, PubMed:28013294). Interacts with RAB5C (By similarity). Interacts with UVRAG, STX17, MON1A and MON1B (PubMed:18552835, PubMed:20434987, PubMed:24554770, PubMed:28013294). 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; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VPS33A Gene

neXtProt entry for VPS33A Gene

Protein Expression for VPS33A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for VPS33A Gene

  • Ubiquitination at Lys77, Lys126, Lys316, and Lys335
  • Modification sites at PhosphoSitePlus

Other Protein References for VPS33A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VPS33A Gene

Domains & Families for VPS33A Gene

Gene Families for VPS33A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for VPS33A Gene

InterPro:
Blocks:
  • Sec1-like protein
ProtoNet:

Suggested Antigen Peptide Sequences for VPS33A Gene

GenScript: Design optimal peptide antigens:
  • Vacuolar protein sorting-associated protein 33A (VP33A_HUMAN)

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

Function for VPS33A Gene

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  6. Cell Lines for research

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).

Phenotypes From GWAS Catalog for VPS33A Gene

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

Human Phenotype Ontology for VPS33A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS33A

No data available for Enzyme Numbers (IUBMB) , 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
endosome 5
lysosome 4
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VPS33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IBA 21873635
GO:0005765 lysosomal membrane IEA,HDA 17897319
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 19109425
GO:0005770 late endosome IDA 19109425
genes like me logo Genes that share ontologies with VPS33A: view

Pathways & Interactions for VPS33A Gene

PathCards logo

SuperPathways for VPS33A Gene

SuperPathway Contained pathways
1 Salmonella infection (KEGG)
Salmonella infection
.31
genes like me logo Genes that share pathways with VPS33A: view

Pathways by source for VPS33A Gene

1 KEGG pathway for VPS33A Gene

Gene Ontology (GO) - Biological Process for VPS33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
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 SIGNOR curated interactions for VPS33A Gene

Drugs & Compounds for VPS33A Gene

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No Compound Related Data Available

Transcripts for VPS33A Gene

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mRNA/cDNA for VPS33A Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS33A

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

Expression for VPS33A Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for VPS33A Gene
mRNA expression by GTEx for VPS33A GenemRNA expression by BioGPS for VPS33A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for VPS33A Gene



Protein tissue co-expression partners for VPS33A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VPS33A

SOURCE GeneReport for Unigene cluster for VPS33A Gene:

Hs.592009

Evidence on tissue expression from TISSUES for VPS33A Gene

  • Intestine(4.2)
  • Lung(4.2)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with VPS33A: view

Primer products for research

No data available for 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 30 31
  • 99.38 (n)
 OneToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 98 (a)
 OneToMany
VPS33A 30
  • 90.32 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 95 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 93 (a)
 ManyToMany
-- 31
  • 89 (a)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia VPS33A 30 31
  • 90.6 (n)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Vps33a 30 17 31
  • 86.91 (n)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Vps33a 30
  • 86.13 (n)
Chicken
(Gallus gallus)
 Aves -- 31
  • 91 (a)
 OneToMany
VPS33A 30
  • 78.79 (n)
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 91 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia vps33a 30
  • 75.13 (n)
Zebrafish
(Danio rerio)
 Actinopterygii BX510999.1 31
  • 84 (a)
 ManyToMany
vps33a 30 31
  • 73.29 (n)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003203 30
  • 52.61 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta car 30 31 32
  • 49.43 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea B0303.9 32
  • 25 (a)
vps-33.1 31
  • 24 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VPS33 31 33
  • 20 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons ATVPS33 30
  • 47.9 (n)
Rice
(Oryza sativa)
 Liliopsida Os04g0223000 30
  • 49.03 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.3653 31
  • 53 (a)
 OneToMany
Bread mold
(Neurospora crassa)
 Ascomycetes NCU09121 30
  • 47.75 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes vps33 30
  • 45.99 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.13276 30
Species where no ortholog for VPS33A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for VPS33A: view image

Paralogs for VPS33A Gene

Paralogs for VPS33A Gene

(79) SIMAP similar genes for VPS33A Gene using alignment to 5 proteins:

  • VP33A_HUMAN
  • F5H2X5_HUMAN
  • F5H6Y0_HUMAN
  • F5H7N5_HUMAN
  • L8EAC9_HUMAN
genes like me logo Genes that share paralogs with VPS33A: view

Variants for VPS33A Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VPS33A Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs114821540 Benign: not provided 122,263,594(-) T/G
NM_022916.6(VPS33A):c.274A>C (p.Ile92Leu) 		MISSENSE
rs141545715 Likely Benign: not provided 122,239,917(-) G/A
NM_022916.6(VPS33A):c.1125C>T (p.Thr375=) 		SYNONYMOUS
rs142464282 Likely Benign: not provided 122,242,409(-) T/C
NM_022916.6(VPS33A):c.1069A>G (p.Ile357Val) 		MISSENSE_VARIANT,INTRON
rs143287106 Likely Benign: not provided 122,235,908(-) G/A
NM_022916.6(VPS33A):c.1318C>T (p.His440Tyr) 		MISSENSE
rs145634176 Benign: not provided 122,261,285(-) G/A
NM_022916.6(VPS33A):c.459C>T (p.Ser153=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for VPS33A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for VPS33A Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for VPS33A Gene

MalaCards: The human disease database

(3) MalaCards diseases for VPS33A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mucopolysaccharidosis-plus syndrome
  • mpsps
vulto-van silfhout-de vries syndrome
  • vsvs
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VP33A_HUMAN
  • Mucopolysaccharidosis-plus syndrome (MPSPS) [MIM:617303]: A form of mucopolysaccharidosis, a group of diseases characterized by excessive accumulation and secretion of oligomucopoloysaccharides. MPSPS is a multisystemic disorder characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, mental retardation, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure. MPSPS inheritance is autosomal recessive. {ECO:0000269 PubMed:27547915, ECO:0000269 PubMed:28013294}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for VPS33A

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

No data available for Genatlas for VPS33A Gene

Publications for VPS33A Gene

  1. Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms. (PMID: 28013294) Kondo H … Sakai N (Human molecular genetics 2017) 3 4 74
  2. A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. (PMID: 27547915) Dursun A … Ozgul RK (Clinical dysmorphology 2017) 3 4 74
  3. Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes. (PMID: 25783203) Wartosch L … Luzio JP (Traffic (Copenhagen, Denmark) 2015) 3 4
  4. Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity. (PMID: 26463206) van der Kant R … Neefjes J (The Journal of biological chemistry 2015) 2 3
  5. The HOPS complex mediates autophagosome-lysosome fusion through interaction with syntaxin 17. (PMID: 24554770) Jiang P … Mizushima N (Molecular biology of the cell 2014) 3 4

ExternalLinks

View latest publications for VPS33A gene in Mastermind

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