Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| VPS13A | 23230 | vacuolar protein sorting 13 homolog A (S. cerevisiae) | 9 | KIAA0986 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 21733561 | 2012 | Cell line : - Source : - Sample Type : CRC tumor and normal tissue No. of Sample : 30 gastric cancers with high microsatellite instability, 13 gastric cancers with low microsatellite instability, and 45 gastric cancers with stable microsatellites and 40 colorectal cancers with high microsatellite instability, 14 colorectal cancers with low microsatellite instability, and 45 colorectal cancers with stable microsatellites Stage : - | SSCP | Frameshift Mutation | - | Frameshift mutations of VPS genes and losses of expression of Vps13A and Vps35 proteins are common in gastric cancers and colorectal cancers with high microsatellite instability and suggest that these alterations might contribute to development of cancers with high microsatellite instability by deregulating vacuolar protein sorting proteins. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] | Chromosome | 9 |
| Location | 9q21 |
| Start | 79792269 |
| End | 80032399 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 240131 |
| OMIM ID | 605978 |
| HGNC ID | HGNC:1908 |
| Unigene ID | Hs.459790 |
| Ensembl ID | ENSG00000197969 |
| PharmGKB ID | PA26444 |
Protein Information
| Protein ID | NP_001018047.1 |
|---|---|
| Protein Name | vacuolar protein sorting 13 homolog A (S. cerevisiae) |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 3174 |
| Uniprot ID | Q9NZJ0 |
| Ensembl Protein ID | ENSP00000355958 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| T | Phosphorylation | 1393 |
| T | Phosphorylation | 1393 |
| T | Phosphorylation | 1354 |
| T | Phosphorylation | 1393 |
| T | Phosphorylation | 1620 |
| Y | Phosphorylation | 1630 |
| T | Phosphorylation | 1632 |
| T | Phosphorylation | 1620 |
| Y | Phosphorylation | 1630 |
| T | Phosphorylation | 1632 |
| T | Phosphorylation | 1581 |
| Y | Phosphorylation | 1591 |
| T | Phosphorylation | 1593 |
| T | Phosphorylation | 1620 |
| Y | Phosphorylation | 1630 |
| T | Phosphorylation | 1632 |
| Y | Phosphorylation | 2626 |
| Y | Phosphorylation | 2634 |
| Y | Phosphorylation | 2626 |
| Y | Phosphorylation | 2634 |
| Y | Phosphorylation | 2587 |
| Y | Phosphorylation | 2595 |
| Y | Phosphorylation | 2626 |
| Y | Phosphorylation | 2634 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam06650 | 2208-2456 | DUF1162 |
| cl05933 | 2208-2456 | DUF1162 superfamily |
| pfam12624 | 3-119 | Chorein_N |
| cl14987 | 3-119 | Chorein_N superfamily |
| pfam09333 | 2952-3025 | ATG_C |
| cl07826 | 2952-3025 | ATG_C superfamily |
| COG5043 | Apr-04 | MRS6 |
| COG5043 | 2598-3098 | MRS6 |
Ontology Information
| HPRD ID | 5770 |
|---|---|
| Molecular Class | Transport/cargo protein |
| Molecular Function | Receptor signaling complex scaffold activity (GO:0030159) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.