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HUMAN:PERF
Contents |
| Species (Taxon ID) | Homo sapiens (Human). ([1]) | |
| Gene Name(s) | PRF1 (synonyms: PFP) | |
| Protein Name(s) | Perforin-1
P1 Cytolysin Lymphocyte pore-forming protein PFP | |
| External Links | ||
| EMBL | X13224 M28393 M31951 AK312754 AL355344 CH471083 BC047695 BC063043 AB209604 L40557 | |
| IPI | IPI00293423 | |
| PIR | A45816 | |
| RefSeq | NP_001076585.1 NP_005032.2 | |
| UniGene | Hs.2200 | |
| ProteinModelPortal | P14222 | |
| SMR | P14222 | |
| IntAct | P14222 | |
| MINT | MINT-1401322 | |
| STRING | P14222 | |
| PRIDE | P14222 | |
| Ensembl | ENST00000318971 ENST00000373209 ENST00000441259 | |
| GeneID | 5551 | |
| KEGG | hsa:5551 | |
| UCSC | uc001jrf.2 | |
| CTD | 5551 | |
| GeneCards | GC10M066350 | |
| H-InvDB | HIX0035400 | |
| HGNC | HGNC:9360 | |
| HPA | CAB002436 | |
| MIM | 170280 603553 | |
| neXtProt | NX_P14222 | |
| Orphanet | 540 88 | |
| PharmGKB | PA33732 | |
| eggNOG | prNOG06782 | |
| GeneTree | ENSGT00530000063725 | |
| HOGENOM | HBG446959 | |
| HOVERGEN | HBG008168 | |
| InParanoid | P14222 | |
| OMA | ACEEKKK | |
| OrthoDB | EOG42NJ0B | |
| PhylomeDB | P14222 | |
| Pathway_Interaction_DB | caspase_pathway cd8tcrdownstreampathway il12_stat4pathway il2_stat5pathway cd8tcrpathway | |
| NextBio | 21512 | |
| ArrayExpress | P14222 | |
| Bgee | P14222 | |
| CleanEx | HS_PRF1 | |
| Genevestigator | P14222 | |
| GermOnline | ENSG00000180644 | |
| GO | GO:0044194 GO:0031904 GO:0005576 GO:0016021 GO:0005886 GO:0005509 GO:0005515 GO:0022829 GO:0006915 GO:0006968 GO:0019835 GO:0002357 GO:0051607 GO:0002418 GO:0051260 | |
| InterPro | IPR000008 IPR008973 IPR018029 IPR020864 IPR020863 | |
| KO | K07818 | |
| Pfam | PF00168 PF01823 | |
| SMART | SM00239 SM00457 | |
| SUPFAM | SSF49562 | |
| PROSITE | PS50004 PS00022 PS01186 PS50026 PS00279 PS51412 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0002357 |
defense response to tumor cell |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0002418 |
immune response to tumor cell |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0005509 |
calcium ion binding |
ISS: Inferred from Sequence or Structural Similarity |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005576 |
extracellular region |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005576 |
extracellular region |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0243 |
C |
Seeded From UniProt |
|||
| GO:0005768 |
endosome |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005886 |
plasma membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005886 |
plasma membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0039 |
C |
Seeded From UniProt |
|||
| GO:0006915 |
apoptosis |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
|||
| GO:0006968 |
cellular defense response |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
|||
| GO:0007623 |
circadian rhythm |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSRNOP00000000681 |
P |
Seeded From UniProt |
|||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016021 |
integral to membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016021 |
integral to membrane |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0016023 |
cytoplasmic membrane-bounded vesicle |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000041483 |
C |
Seeded From UniProt |
|||
| GO:0019835 |
cytolysis |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0019835 |
cytolysis |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000041483 |
P |
Seeded From UniProt |
|||
| GO:0019835 |
cytolysis |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0022829 |
wide pore channel activity |
IDA: Inferred from Direct Assay |
|
F |
Seeded From UniProt |
|||
| GO:0031904 |
endosome lumen |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0327 |
C |
Seeded From UniProt |
|||
| GO:0044194 |
cytolytic granule |
ISS: Inferred from Sequence or Structural Similarity |
C |
Seeded From UniProt |
||||
| GO:0045471 |
response to ethanol |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSRNOP00000000681 |
P |
Seeded From UniProt |
|||
| GO:0046872 |
metal ion binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0051260 |
protein homooligomerization |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0051607 |
defense response to virus |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0016265 |
death |
IMP: Inferred from Mutant Phenotype |
P |
Table 4 Polymorphisms in the Perforin Gene. Shows sequence alteration and the effect on the protein in the wild type compared to the mutation. |
complete | |||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Metkar SS et al. (2002) Cytotoxic cell granule-mediated apoptosis: perforin delivers granzyme B-serglycin complexes into target cells without plasma membrane pore formation. Immunity 16: 417-28 PubMed GONUTS page
- ↑ 2.0 2.1 Takahashi T et al. (2000) Analysis of human V alpha 24+ CD4+ NKT cells activated by alpha-glycosylceramide-pulsed monocyte-derived dendritic cells. J Immunol 164: 4458-64 PubMed GONUTS page
- ↑ 3.0 3.1 3.2 Praper T et al. (2011) Human perforin employs different avenues to damage membranes. J Biol Chem 286: 2946-55 PubMed GONUTS page
- ↑ Göransdotter Ericson K et al. (2001) Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet 68: 590-7 PubMed GONUTS page
