VPS33A - VPS33A core subunit of CORVET and HOPS complexes Gene
Also Known as MPSPS
Species: Homo sapiens
About VPS33A
This gene has 9 transcripts (splice variants), 213 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 14.4), lymph node (RPKM 7.8) and 25 other tissues.
Summary
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 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001351018.2 | NP_001337947.1 | vacuolar protein sorting-associated protein 33A isoform 2 |
| NM_001351019.2 | NP_001337948.1 | vacuolar protein sorting-associated protein 33A isoform 3 |
| NM_001351020.2 | NP_001337949.1 | vacuolar protein sorting-associated protein 33A isoform 4 |
| NM_001351021.2 | NP_001337950.1 | vacuolar protein sorting-associated protein 33A isoform 5 |
| NM_022916.6 | NP_075067.2 | vacuolar protein sorting-associated protein 33A isoform 1 |
VPS33A Protein Structure
Sec1: Sec1 family (34 - 591)
- 0
- 100
- 200
- 300
- 400
- 500
- 596 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
vacuolar protein sorting-associated protein 33A |
|
VPS33A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
VPS33A | Q96AX1 | VPS18 | Homo sapiens | Q9P253 | 24554770 | |
|
Intra
|
VPS33A | Q96AX1 | VPS18 | Homo sapiens | Q9P253 | 25783203 | |
|
Intra
|
VPS33A | Q96AX1 | ROPN1 | Homo sapiens | Q9HAT0 | 32296183 | |
|
Intra
|
VPS33A | Q96AX1 | ROPN1 | Homo sapiens | Q9HAT0 | 32296183 | |
|
Intra
|
VPS33A | Q96AX1 | ROPN1 | Homo sapiens | Q9HAT0 | 32296183 | |
|
Intra
|
VPS33A | Q96AX1 | VPS16 | Homo sapiens | Q9H269 | 23901104 | |
|
Intra
|
VPS33A | Q96AX1 | VPS16 | Homo sapiens | Q9H269 | 23901104 | |
|
Intra
|
VPS33A | Q96AX1 | VPS16 | Homo sapiens | Q9H269 | 20190753 | |
|
Intra
|
VPS33A | Q96AX1 | VPS16 | Homo sapiens | Q9H269 | 23901104 | |
|
Intra
|
VPS33A | Q96AX1 | VPS16 | Homo sapiens | Q9H269 | 23901104 | |
|
Intra
|
VPS33A | Q96AX1 | VPS16 | Homo sapiens | Q9H269 | 29778605 | |
|
Intra
|
VPS33A | Q96AX1 | VPS16 | Homo sapiens | Q9H269 | 35271311 | |
|
Intra
|
VPS33A | Q96AX1 | STX17 | Homo sapiens | P56962 | 24554770 | |
|
Intra
|
VPS33A | Q96AX1 | STX17 | Homo sapiens | P56962 | 24554770 | |
|
Intra
|
VPS33A | Q96AX1 | UVRAG | Homo sapiens | Q9P2Y5 | 24554770 | |
|
Intra
|
VPS33A | Q96AX1 | VPS11 | Homo sapiens | Q9H270 | 29778605 | |
|
Intra
|
VPS33A | Q96AX1 | VPS11 | Homo sapiens | Q9H270 | 35271311 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mucopolysaccharidosis-Plus Syndrome |
|
|
| Scheie Syndrome |
|
|
| Dysostosis |
|
|
| Mucopolysaccharidosis, Type Iiic |
|
|
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
|
| Hurler Syndrome |
|
|
| Mucopolysaccharidosis, Type Ii |
|
|
| Hermansky-Pudlak Syndrome |
|
|
| Mucopolysaccharidosis, Type Iiia |
|
|
| Mucopolysaccharidosis Iii |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | VPS33A | VGNC | VGNC:110105 |
| Rattus norvegicus | VPS33A | RGD | RGD:620643 |
| Mus musculus | VPS33A | MGD | MGI:1924823 |
| Felis catus | VPS33A | VGNC | VGNC:110161 |
| Bos taurus | VPS33A | VGNC | VGNC:110073 |
| Others | VPS33A | NCBI |