| Entrez Gene ID | 10015 |
|---|---|
| Official Gene Symbol | PDCD6IP (GeneCards) |
| Full name | programmed cell death 6 interacting protein |
| Location | 3p22.3 |
| Other ids | Vega : OTTHUMG00000130751 MIM : 608074 HGNC : HGNC:8766 Ensembl : ENSG00000170248 |
| Other names | AIP1, ALIX, HP95, DRIP4 |
| Summary | This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012] |
Found 9 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1085 | 10015 | PDCD6IP | 3 | 33877686 | 33877686 | Human Skin Fibroblasts | HiSeq 2500 |
| 5366 | 10015 | PDCD6IP | 3 | 33955384 | 33955384 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 5896 | 10015 | PDCD6IP | 3 | 34704175 | 34704175 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten |
| 5947 | 10015 | PDCD6IP | 3 | 34723865 | 34723865 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten |
| 22810 | 10015 | PDCD6IP | 3 | 34406115 | 34406115 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25077 | 10015 | PDCD6IP | 3 | 33890900 | 33890900 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25078 | 10015 | PDCD6IP | 3 | 34361122 | 34361122 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25113 | 10015 | PDCD6IP | 3 | 34809057 | 34809057 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25133 | 10015 | PDCD6IP | 3 | 34561067 | 34561067 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |