UniProt/SwissProt ID: | PERF_HUMAN |
Description: | perforin 1 (pore forming protein) [Source:HGNC Symbol;Acc:9360] |
Location: | chr10 q22.1 |
Node attribute: | gene |
Phosphorylation site |
PERF_HUMAN do not have phosphorylation site. |
Dephosphorylation site |
PERF_HUMAN do not have dephosphorylation site. |
Mutation site |
Ensembl ID | Variation | Source | Cancer name | Pubmed |
---|---|---|---|---|
ENSP00000362305 | R123H | COSMIC | Intestines Cancer | 16959974 |
ENSP00000316746 | R123H | BIOMART | Colorectal Cancer | 21930507, 21930502 |
ENSP00000362305 | N252S | OMIM | Lymphoma | 15459303 15659737 15659737 15728124 |
ENSP00000362305 | *556C | COSMIC | Ovarian Cancer | 21720365 |
ENSP00000362305 | R123H | Sjoblom2006 | Intestines Cancer | 16959974 |
ENSP00000398568 | A91V | OMIM | Lymphoma | 12229880 15728124 15755897 17475905 |
ENSP00000398568 | N252S | OMIM | Lymphoma | 15459303 15659737 15659737 15728124 |
ENSP00000316746 | *556C | COSMIC | Ovarian Cancer | 21720365 |
ENSP00000362305 | R385W | COSMIC | Central Nervous System Neoplasms | 18772890 |
ENSP00000316746 | N252S | OMIM | Lymphoma | 15459303 15659737 15659737 15728124 |
ENSP00000316746 | A91V | OMIM | Lymphoma | 12229880 15728124 15755897 17475905 |
ENSP00000398568 | *556C | COSMIC | Ovarian Cancer | 21720365 |
ENSP00000362305 | A91V | OMIM | Lymphoma | 12229880 15728124 15755897 17475905 |
Differential expressed protein |
PERF_HUMAN is not differential expressed protein. |
Hyperphosphorylation site |
PERF_HUMAN do not have hyperphosphorylation site. |
Direct Interaction Pair |
Source | Target | Relationship | Resource |
---|---|---|---|
STAT4_HUMAN | PERF_HUMAN | TF -> target gene | TRANSFAC |
Function Annotation |
KEGG Pathway |
PERF_HUMAN is not in KEGG pathway. |
Gene Ontology |
GO ID | GO_Term | Evidence | Ontology |
---|---|---|---|
GO:0031904 | endosome lumen | IEA | cellular_component |
GO:0005509 | calcium ion binding | ISS | molecular_function |
GO:0006968 | cellular defense response | TAS | biological_process |
GO:0019835 | cytolysis | IEA | biological_process |
GO:0022829 | wide pore channel activity | IEA | molecular_function |
GO:0051260 | protein homooligomerization | IEA | biological_process |
GO:0006915 | apoptotic process | TAS | biological_process |
GO:0005509 | calcium ion binding | IEA | molecular_function |
GO:0002357 | defense response to tumor cell | IEA | biological_process |
GO:0005515 | protein binding | IPI | molecular_function |
GO:0051260 | protein homooligomerization | IDA | biological_process |
GO:0002418 | immune response to tumor cell | ISS | biological_process |
GO:0005576 | extracellular region | IEA | cellular_component |
GO:0051607 | defense response to virus | IEA | biological_process |
GO:0005886 | plasma membrane | IEA | cellular_component |
GO:0022829 | wide pore channel activity | IDA | molecular_function |
GO:0016023 | cytoplasmic membrane-bounded vesicle | IEA | cellular_component |
GO:0051607 | defense response to virus | ISS | biological_process |
GO:0002357 | defense response to tumor cell | ISS | biological_process |
GO:0019835 | cytolysis | ISS | biological_process |
GO:0016021 | integral to membrane | IDA | cellular_component |
GO:0044194 | cytolytic granule | ISS | cellular_component |
GO:0002418 | immune response to tumor cell | IEA | biological_process |
GO:0044194 | cytolytic granule | IEA | cellular_component |
GO:0016021 | integral to membrane | IEA | cellular_component |