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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
External Ids for VPS33A Gene
- HGNC: 18179
- Entrez Gene: 65082
- Ensembl: ENSG00000139719
- OMIM: 610034
- UniProtKB: Q96AX1
Previous GeneCards Identifiers for VPS33A Gene
- GC12M121416
- GC12P122609
- GC12M122524
- GC12M121153
- GC12M121241
- GC12M121282
- GC12M122716
- GC12M119676
Summaries 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 Dysostosis. 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).
Additional gene information for VPS33A Gene
- HGNC(18179)
- Entrez Gene(65082)
- Ensembl(ENSG00000139719)
- OMIM(610034)
- UniProtKB(Q96AX1)
- Open Targets Platform(ENSG00000139719)
- Monarch Initiative
- Search for VPS33A at DataMed
- Search for VPS33A at HumanCyc
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
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 | 600.7 | +0.1 | 93 | 2.8 | ZNF221 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 | ENSG00000256861 VPS33A RSRC2 ZCCHC8 C12orf65 ENSG00000272849 ANAPC5 SETD1B KNTC1 PSMD9 | |
| GH12J122243 | Promoter/Enhancer | 0.8 | EPDnew ENCODE | 624.7 | +21.8 | 21795 | 2.5 | RUNX3 ZBTB40 MTA2 BHLHE40 TCF7 IKZF1 IKZF2 | VPS33A LRRC43 ENSG00000256861 B3GNT4 lnc-CLIP1-1 ENSG00000284934 | |
| GH12J122242 | Promoter | 0.3 | EPDnew | 625.1 | +24.0 | 23967 | 0.1 | VPS33A ENSG00000256861 B3GNT4 LRRC43 ENSG00000284934 lnc-CLIP1-1 | ||
| GH12J122232 | Promoter | 0.3 | EPDnew | 600.3 | +34.1 | 34093 | 0.1 | VPS33A ENSG00000284934 lnc-CLIP1-1 ENSG00000256861 | ||
| GH12J122231 | Promoter | 0.3 | EPDnew | 600.3 | +34.9 | 34891 | 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
Genomic Locations for VPS33A Gene
- chr12:122,229,564-122,266,494
- (GRCh38/hg38)
- Size:
- 36,931 bases
- Orientation:
- Minus strand
- chr12:122,714,111-122,751,068
- (GRCh37/hg19)
- 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:
-
- 12q24.31 by HGNC
- 12q24.31 by Entrez Gene
- 12q24.31 by Ensembl
VPS33A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for VPS33A Gene
Post-translational modifications for VPS33A Gene
Other Protein References for VPS33A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- GeneTex Anti-VPS33A antibody [C1C3]
- Novus Biologicals Antibodies for VPS33A
-
Abcam antibodies for VPS33A
- Invitrogen Antibodies for VPS33A (AFLGC-Vps33a)
-
Biorbyt antibodies for VPS33A
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for VPS33A
- Origene Custom Protein Services for VPS33A
- antibodies-online: Show 4 available VPS33A Proteins ranked by validation data
- Compare Top VPS33A Proteins
-
Quality Products:
-
Signalway Proteins for VPS33A
-
Abcam proteins for VPS33A
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- Family:
-
- Belongs to the STXBP/unc-18/SEC1 family.
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).
Phenotypes From GWAS Catalog for VPS33A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 19109425 |
Phenotypes for VPS33A Gene
- MGI mutant phenotypes for VPS33A:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for VPS33A:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Synthetic lethal with Ras
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for VPS33A - Select products 50% OFF >
- * VPS33A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for VPS33A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for VPS33A
-
Santa Cruz Biotechnology (SCBT) CRISPR for VPS33A
miRNA for VPS33A Gene
- miRTarBase miRNAs that target VPS33A
-
- hsa-miR-98-5p (MIRT027508)
- hsa-miR-26b-5p (MIRT029192)
- hsa-miR-1273e (MIRT460793)
- hsa-miR-4266 (MIRT460794)
- hsa-miR-7847-3p (MIRT460795)
- hsa-miR-6880-5p (MIRT460796)
- hsa-miR-6851-5p (MIRT460797)
- hsa-miR-3689d (MIRT460798)
- hsa-miR-4722-5p (MIRT460799)
- hsa-miR-6134 (MIRT460800)
- hsa-miR-1827 (MIRT460801)
- hsa-miR-219b-3p (MIRT460802)
- hsa-miR-4768-3p (MIRT460803)
- hsa-miR-940 (MIRT460804)
- hsa-miR-6893-5p (MIRT460805)
- hsa-miR-6808-5p (MIRT460806)
- hsa-miR-4779 (MIRT460807)
- hsa-miR-4695-5p (MIRT460808)
- hsa-miR-302f (MIRT460809)
- hsa-miR-3653-3p (MIRT552920)
- hsa-miR-3129-5p (MIRT552921)
- hsa-miR-199b-3p (MIRT552922)
- hsa-miR-199a-3p (MIRT552923)
- hsa-miR-545-5p (MIRT552924)
- hsa-miR-32-3p (MIRT552925)
- hsa-miR-30b-5p (MIRT552926)
- hsa-miR-30c-5p (MIRT552927)
- hsa-miR-30a-5p (MIRT552928)
- hsa-miR-30d-5p (MIRT552929)
- hsa-miR-30e-5p (MIRT552930)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VPS33A
- Browse OriGene Inhibitory RNA Products For VPS33A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS33A
Clone Products
- Applied Biological Materials (abm): Clones for VPS33A - Select products 50% OFF >
- * VPS33A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for VPS33A
- Addgene plasmids for VPS33A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for VPS33A
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005764 | lysosome | IEA,IBA | 21873635 |
| GO:0005765 | lysosomal membrane | IEA,HDA | 17897319 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005769 | early endosome | IEA,IDA | 19109425 |
Pathways & Interactions for VPS33A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Salmonella infection (KEGG) | ||
Pathways by source for VPS33A Gene
1 KEGG pathway for VPS33A Gene
Interacting Proteins for VPS33A Gene
Selected Interacting proteins:
Q96AX1-VP33A_HUMAN
ENSP00000267199
for VPS33A Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for VPS33A
| 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 | -- |
No data available for SIGNOR curated interactions for VPS33A Gene
Transcripts for VPS33A Gene
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 :
-
- ENST00000267199 4559 nts (view in UCSC)
- ENST00000451053 1173 nts (view in UCSC)
- ENST00000536212 460 nts (view in UCSC)
- ENST00000540669 567 nts (view in UCSC)
- ENST00000541169 594 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for VPS33A - Select products 50% OFF >
- * VPS33A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for VPS33A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for VPS33A
-
Santa Cruz Biotechnology (SCBT) CRISPR for VPS33A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VPS33A
- Browse OriGene Inhibitory RNA Products For VPS33A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS33A
Clone Products
- Applied Biological Materials (abm): Clones for VPS33A - Select products 50% OFF >
- * VPS33A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for VPS33A
- Addgene plasmids for VPS33A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for VPS33A
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Stomach (Gastrointestinal Tract)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VPS33A
SOURCE GeneReport for Unigene cluster for VPS33A Gene:
Hs.592009Evidence on tissue expression from TISSUES for VPS33A Gene
- Intestine(4.2)
- Lung(4.2)
- Nervous system(3)
Primer Products
-
OriGene qPCR primer pairs for VPS33A
-
OriGene qPCR primer pairs and template standards for VPS33A
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | VPS33A 30 31 |
|
OneToMany | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| VPS33A 30 |
|
||||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Cow (Bos Taurus) |
Mammalia | VPS33A 30 31 |
|
OneToMany | |
| Mouse (Mus musculus) |
Mammalia | Vps33a 30 17 31 |
|
OneToMany | |
| Rat (Rattus norvegicus) |
Mammalia | Vps33a 30 |
|
||
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| VPS33A 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | vps33a 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | BX510999.1 31 |
|
ManyToMany | |
| vps33a 30 31 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003203 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | car 30 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | B0303.9 32 |
|
|
|
| vps-33.1 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VPS33 31 33 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ATVPS33 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os04g0223000 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3653 31 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU09121 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | vps33 30 |
|
||
| 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
- pp12301
- EIF3G
- ARL6IP5
- TNNT1
- C12orf76
- LSM12
- PFKFB3
- ARIH1
- ADCK1
- SMYD4
- RRM2B
- NAE1
- CALCOCO2
- SEPSECS
- HBP1
- ZNF799
- MRPL45
- HINFP
- EIF3K
- AAMDC
- TCF4
- IK
- COQ5
- ZNF554
- LDLRAD3
- CDK10
- RPGRIP1L
- EEF1E1
- ZNF257
- ZNF212
- NDUFS3
- IDNK
- FRG1
- TUBA1C
- DNAPTP3
- NUP93
- ZNF547
- SLC24A1
- RARS
- DYNC2LI1
- UBXN4
- IRF2
- ABI2
- ZNF180
- TMX3
- PUS1
- C11orf80
- ASCC1
- C21orf37
- GALK2
- ZNF114
- RPS13
- RQCD1
- NLN
- GLT8D2
- TAF2
- FP6778
- HC6
- ATF1
- C14orf105
- SEC14L3
- NF2
- GEMIN6
- FLJ00047
- CNN2
- BEAN1
- MFSD12
- RHBG
- RBP7
- C4orf21
- SLC35E3
- PARK2
- TM2D1
- NELFA
- LINC00999
- SUV420H1
- FANCA
- PLEKHH2
- VPS33B
Variants for VPS33A Gene
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 |
|---|---|---|---|---|---|
| 684330 | Benign: not provided | 122,266,153(-) | T/G | FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 708440 | Benign: not provided | 122,250,022(-) | C/T | SYNONYMOUS_VARIANT | |
| 713354 | Likely Benign: not provided | 122,239,917(-) | G/A | SYNONYMOUS_VARIANT | |
| 725626 | Likely Benign: not provided | 122,261,267(-) | T/C | SYNONYMOUS_VARIANT | |
| 741622 | Likely Benign: not provided | 122,242,409(-) | T/C | MISSENSE_VARIANT,INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3630972 | CNV | loss | 21293372 |
| esv3630973 | CNV | gain | 21293372 |
| nsv1122777 | CNV | deletion | 24896259 |
| nsv1125561 | CNV | tandem duplication | 24896259 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS33A Gene
Disorders for VPS33A Gene
(2) MalaCards diseases for VPS33A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mucopolysaccharidosis-plus syndrome |
|
|
| dysostosis |
|
|
Search VPS33A in MalaCards
View complete list of genes associated with diseases
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 mutations affecting the gene represented in this entry.
Additional Disease Information for VPS33A
No data available for Genatlas for VPS33A Gene
Publications for VPS33A Gene
- 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
- 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
- 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
- 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
- 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
Products for VPS33A Gene
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Sources for VPS33A Gene
- (1) GeneCards
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