PRF1 - perforin 1 Gene
Also Known as P1; PFP; HPLH2
Species: Homo sapiens
About PRF1
This gene has 4 transcripts (splice variants), 423 orthologues, 39 paralogues and is associated with 67 phenotypes. Biased expression in spleen (RPKM 24.2), bone marrow (RPKM 10.6) and 12 other tissues.
Summary
This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
PRF1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001083116.3 | NP_001076585.1 | perforin-1 precursor |
| NM_005041.6 | NP_005032.2 | perforin-1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
21037563 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11911826 | GOA |
| enables wide pore channel activity |
IDA
IDA: Inferred from direct assay
|
20038786 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in immunological synapse formation |
IDA
IDA: Inferred from direct assay
|
21438968 | GOA |
| involved in positive regulation of killing of cells of another organism |
IDA
IDA: Inferred from direct assay
|
9756476 | GOA |
| involved in protein homooligomerization |
IDA
IDA: Inferred from direct assay
|
20889983 | GOA |
| involved in protein import |
IDA
IDA: Inferred from direct assay
|
20038786 | GOA |
| involved in protein transmembrane transport |
IDA
IDA: Inferred from direct assay
|
20038786 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytolytic granule |
IDA
IDA: Inferred from direct assay
|
9756476 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
20889983 | GOA |
| is active in plasma membrane |
IDA
IDA: Inferred from direct assay
|
20038786 | GOA |
PRF1 Protein Structure
MACPF: MAC/Perforin domain (150 - 367)
C2: C2 domain (417 - 497)
- 0
- 100
- 200
- 300
- 400
- 500
- 555 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
perforin-1 |
|
PRF1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PRF1 | P14222 | NOTCH2NLC | Homo sapiens | P0DPK4 | 32296183 | |
|
Intra
|
PRF1 | P14222 | NOTCH2NLC | Homo sapiens | P0DPK4 | 32296183 | |
|
Intra
|
PRF1 | P14222 | GZMB | Homo sapiens | P10144 | 11911826 | |
|
Intra
|
PRF1 | P14222 | CYSRT1 | Homo sapiens | A8MQ03 | 32296183 | |
|
Intra
|
PRF1 | P14222 | CYSRT1 | Homo sapiens | A8MQ03 | 32296183 | |
|
Intra
|
PRF1 | P14222 | KRT31 | Homo sapiens | Q15323 | 32296183 | |
|
Intra
|
PRF1 | P14222 | PRF1 | Homo sapiens | P14222 | 21685908 | |
|
Intra
|
PRF1 | P14222 | KRT31 | Homo sapiens | Q15323 | 32296183 | |
|
Intra
|
PRF1 | P14222 | PRF1 | Homo sapiens | P14222 | 21037563 | |
|
Intra
|
PRF1 | P14222 | KRT31 | Homo sapiens | Q15323 | 32296183 | |
|
Intra
|
PRF1 | P14222 | ompC | Yersinia pestis | Q7CHA0 | 20711500 | |
|
Intra
|
PRF1 | P14222 | PRF1 | Homo sapiens | P14222 | 21037563 |
PRF1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P84096 | Perforin Antibody (YA3793) | WB, IHC-P, FC, ELISA | Human, Mouse |
| HY-P84096A | Perforin Antibody (YA3793)(PBS only) | WB, IHC-P, FC, ELISA | Human, Mouse |
| HY-P85946 | Perforin Antibody (YA5638) | IHC-P, WB, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
|
| Aplastic Anemia |
|
|
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
|
| Fatal Post-Viral Neurodegenerative Disorder |
|
|
| Hemophagocytic Lymphohistiocytosis |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Autoinflammatory Syndrome |
|
|
| Borna Disease |
|
|
| Macrophage Activation Syndrome |
|
|
| Bacterial Vaginosis |
|
|
| Lymphoproliferative Syndrome |
|
|
| Autoimmune Lymphoproliferative Syndrome |
|
|
| Mast Cell Neoplasm |
|
|
| Bacteriuria |
|
|
| Endophthalmitis |
|
|
| Multiple Sclerosis |
|
|
| Pneumonia |
|
|
| Anal Margin Carcinoma |
|
|
| Cholera |
|
|
| Nk Cell Deficiency |
|
|
| Lethal Midline Granuloma |
|
|
| Necrotizing Fasciitis |
|
|
| Primary Cutaneous Gamma-Delta T-Cell Lymphoma |
|
|
| Acute Endophthalmitis |
|
|
| Griscelli Syndrome |
|
|
| Aggressive Nk-Cell Leukemia |
|
|
| Endocardium Disease |
|
|
| Griscelli Syndrome, Type 2 |
|
|
| Listeriosis |
|
|
| Severe Cutaneous Adverse Reaction |
|
|
| Chediak-Higashi Syndrome |
|
|
| Immunodeficiency 65 |
|
|
| Blood Group, Globoside System |
|
|
| Autoimmune Disease |
|
|
| Gas Gangrene |
|
|
| Mycobacterium Tuberculosis 1 |
|
|
| Ankylosing Spondylitis 3 |
|
|
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
|
| Commensal Bacterial Infectious Disease |
|
|
| Parasitic Protozoa Infectious Disease |
|
|
| Pfeiffer Syndrome |
|
|
| Coccidiosis |
|
|
| Primary Bacterial Infectious Disease |
|
|
| Squamous Blepharitis |
|
|
| Combined Immunodeficiency |
|
|
| Pancreatic Cancer |
|
|
| Lymphoproliferative Syndrome 1 |
|
|
| Pancytopenia |
|
|
| Complement Component 7 Deficiency |
|
|
| Hermansky-Pudlak Syndrome |
|
|
| Celiac Disease 1 |
|
|
| Behcet Syndrome |
|
|
| Skin Disease |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
| Leukemia, Acute Myeloid |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | PRF1 | MGD | MGI:97551 |
| Rattus norvegicus | PRF1 | RGD | RGD:708463 |
| Felis catus | PRF1 | VGNC | VGNC:69042 |
| Canis familiaris | PRF1 | VGNC | VGNC:44964 |
| Macaca mulatta | PRF1 | VGNC | VGNC:106091 |
| Bos taurus | PRF1 | VGNC | VGNC:33313 |
| Others | PRF1 | NCBI |