VPS11 - VPS11 core subunit of CORVET and HOPS complexes Gene
Also Known as END1; PEP5; HLD12; RNF108; hVPS11; HLD12; DYT32
Species: Homo sapiens
About VPS11
This gene has 8 transcripts (splice variants), 1 gene allele, 214 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 16.0), bone marrow (RPKM 14.4) and 25 other tissues.
Summary
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 encodes the human homolog of yeast class C Vps11 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
VPS11 Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001290185.2 | NP_001277114.1 | vacuolar protein sorting-associated protein 11 homolog isoform 2 |
| NM_001378218.1 | NP_001365147.1 | vacuolar protein sorting-associated protein 11 homolog isoform 3 |
| NM_001378219.1 | NP_001365148.1 | vacuolar protein sorting-associated protein 11 homolog isoform 4 |
| NM_001378220.1 | NP_001365149.1 | vacuolar protein sorting-associated protein 11 homolog isoform 5 |
| NM_001378221.1 | NP_001365150.1 | vacuolar protein sorting-associated protein 11 homolog isoform 6 |
| NM_021729.6 | NP_068375.3 | vacuolar protein sorting-associated protein 11 homolog isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11382755 | GOA |
| enables protein domain specific binding |
IPI
IPI: Inferred from physical interaction
|
21148287 | GOA |
| enables syntaxin binding |
IDA
IDA: Inferred from direct assay
|
11382755 | GOA |
| enables ubiquitin protein ligase activity |
IMP
IMP: Inferred from mutant phenotype
|
31015428 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in endosomal vesicle fusion |
IMP
IMP: Inferred from mutant phenotype
|
21148287 | GOA |
| involved in endosome to lysosome transport |
IMP
IMP: Inferred from mutant phenotype
|
25783203 | GOA |
| involved in negative regulation of intracellular estrogen receptor signaling pathway |
IGI
IGI: Inferred from genetic interaction
|
31015428 | GOA |
| involved in positive regulation of early endosome to late endosome transport |
IMP
IMP: Inferred from mutant phenotype
|
21148287 | GOA |
| involved in positive regulation of protein catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
21148287 | GOA |
| involved in protein ubiquitination |
IMP
IMP: Inferred from mutant phenotype
|
31015428 | GOA |
| involved in regulation of organelle assembly |
IMP
IMP: Inferred from mutant phenotype
|
21148287 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of HOPS complex |
IDA
IDA: Inferred from direct assay
|
19109425 | GOA |
| colocalizes with early endosome |
IDA
IDA: Inferred from direct assay
|
21148287 | GOA |
| located in endocytic vesicle |
IDA
IDA: Inferred from direct assay
|
20682791 | GOA |
| located in endosome |
IDA
IDA: Inferred from direct assay
|
20682791 | GOA |
| colocalizes with late endosome |
IDA
IDA: Inferred from direct assay
|
21148287 | GOA |
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
11382755 | GOA |
| colocalizes with lysosome |
IDA
IDA: Inferred from direct assay
|
21148287 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
11382755 | GOA |
VPS11 Protein Structure
Clathrin: Region in Clathrin and VPS (416 - 535)
zf-C3HC4_2: Zinc finger, C3HC4 type (RING finger) (821 - 859)
VPS11_C: Vacuolar protein sorting protein 11 C terminal (861 - 908)
- 0
- 200
- 400
- 600
- 800
- 940 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
vacuolar protein sorting-associated protein 11 homolog |
|
VPS11 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
VPS11 | Q9H270 | KRTAP10-8 | Homo sapiens | P60410 | 32296183 | |
|
Intra
|
VPS11 | Q9H270 | KRTAP10-8 | Homo sapiens | P60410 | 32296183 | |
|
Intra
|
VPS11 | Q9H270 | KRTAP10-8 | Homo sapiens | P60410 | 25416956 | |
|
Intra
|
VPS11 | Q9H270 | VPS39 | Homo sapiens | Q96JC1 | 33422265 | |
|
Intra
|
VPS11 | Q9H270 | VPS39 | Homo sapiens | Q96JC1 | 33961781 | |
|
Intra
|
VPS11 | Q9H270 | VPS39 | Homo sapiens | Q96JC1 | 23901104 | |
|
Intra
|
VPS11 | Q9H270 | VPS18 | Homo sapiens | Q9P253 | 11382755 | |
|
Intra
|
VPS11 | Q9H270 | VPS18 | Homo sapiens | Q9P253 | 33961781 | |
|
Intra
|
VPS11 | Q9H270 | VPS18 | Homo sapiens | Q9P253 | 23901104 | |
|
Intra
|
VPS11 | Q9H270 | VPS18 | Homo sapiens | Q9P253 | 28514442 | |
|
Intra
|
VPS11 | Q9H270 | VPS18 | Homo sapiens | Q9P253 | 26496610 | |
|
Intra
|
VPS11 | Q9H270 | VPS41 | Homo sapiens | P49754 | 33422265 | |
|
Intra
|
VPS11 | Q9H270 | VPS41 | Homo sapiens | P49754 | 33961781 | |
|
Intra
|
VPS11 | Q9H270 | BMI1 | Homo sapiens | P35226 | 22493164 | |
|
Intra
|
VPS11 | Q9H270 | VPS33A | Homo sapiens | Q96AX1 | 26496610 | |
|
Intra
|
VPS11 | Q9H270 | VPS33A | Homo sapiens | Q96AX1 | 33961781 | |
|
Intra
|
VPS11 | Q9H270 | VPS16 | Homo sapiens | Q9H269 | 11382755 | |
|
Intra
|
VPS11 | Q9H270 | VPS16 | Homo sapiens | Q9H269 | 33961781 | |
|
Intra
|
VPS11 | Q9H270 | VPS16 | Homo sapiens | Q9H269 | 26496610 | |
|
Intra
|
VPS11 | Q9H270 | TGFBRAP1 | Homo sapiens | Q8WUH2 | 33961781 | |
|
Intra
|
VPS11 | Q9H270 | TGFBRAP1 | Homo sapiens | Q8WUH2 | 28514442 | |
|
Intra
|
VPS11 | Q9H270 | TGFBRAP1 | Homo sapiens | Q8WUH2 | 26496610 | |
|
Intra
|
VPS11 | Q9H270 | STX7 | Homo sapiens | O15400 | 11382755 | |
|
Intra
|
VPS11 | Q9H270 | STX7 | Homo sapiens | O15400 | 11382755 | |
|
Intra
|
VPS11 | Q9H270 | FGFR3 | Homo sapiens | P22607 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | FGFR3 | Homo sapiens | P22607 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | FGFR3 | Homo sapiens | P22607 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | HRAS | Homo sapiens | P01112 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | HRAS | Homo sapiens | P01112 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | HRAS | Homo sapiens | P01112 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | GSN | Homo sapiens | P06396 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | GSN | Homo sapiens | P06396 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | GSN | Homo sapiens | P06396 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | PECAM1 | Homo sapiens | P16284 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | PECAM1 | Homo sapiens | P16284 | 32814053 | |
|
Intra
|
VPS11 | Q9H270 | PECAM1 | Homo sapiens | P16284 | 32814053 | |
|
Cross
|
VPS11 | Q9H270 | Vps33a | Rattus norvegicus | Q63615 | 11382755 | |
|
Cross
|
VPS11 | Q9H270 | Vps33a | Rattus norvegicus | Q63615 | 11382755 |
VPS11 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82692 | VPS11 Antibody (YA2437) | WB, IHC-P, FC | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Leukodystrophy, Hypomyelinating, 12 |
|
|
| Dystonia 32 |
|
|
| Dystonia |
|
|
| Chronic Apical Periodontitis |
|
|
| Leukodystrophy |
|
|
| Visual Cortex Disease |
|
|
| Visual Pathway Disease |
|
|
| Hypomyelinating Leukodystrophy |
|
|
| Microcephaly |
|
|
| Hermansky-Pudlak Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | VPS11 | RGD | RGD:1308038 |
| Mus musculus | VPS11 | MGD | MGI:1918982 |
| Macaca mulatta | VPS11 | VGNC | VGNC:78965 |
| Bos taurus | VPS11 | VGNC | VGNC:36809 |
| Canis familiaris | VPS11 | VGNC | VGNC:48273 |
| Felis catus | VPS11 | VGNC | VGNC:66953 |
| Others | VPS11 | NCBI |