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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-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]
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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 19109425 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Salmonella infection (KEGG) |
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 | -- |
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: | - |
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 |
|
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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3630972 | CNV | loss | 21293372 |
esv3630973 | CNV | gain | 21293372 |
nsv1122777 | CNV | deletion | 24896259 |
nsv1125561 | CNV | tandem duplication | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mucopolysaccharidosis-plus syndrome |
|
|
vulto-van silfhout-de vries syndrome |
|
|
hermansky-pudlak syndrome |
|
|