Details for: PRF1

Gene ID: 5551

Symbol: PRF1

Ensembl ID: ENSG00000180644

Description: perforin 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 78.8838
    Cell Significance Index: -12.2700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 50.6617
    Cell Significance Index: -12.8500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 31.6105
    Cell Significance Index: -16.2600
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 31.3489
    Cell Significance Index: 83.9800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 25.4595
    Cell Significance Index: -12.0200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 11.8333
    Cell Significance Index: 415.8100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.0693
    Cell Significance Index: -12.4200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 5.3780
    Cell Significance Index: 134.4400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 5.0463
    Cell Significance Index: 104.6800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 4.7248
    Cell Significance Index: 136.1300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 3.0443
    Cell Significance Index: 47.1000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.7609
    Cell Significance Index: -8.4800
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 2.3967
    Cell Significance Index: 25.5000
  • Cell Name: activated type II NK T cell (CL0000931)
    Fold Change: 2.1835
    Cell Significance Index: 5.5900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.7115
    Cell Significance Index: 37.0800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.4982
    Cell Significance Index: 44.0000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.3344
    Cell Significance Index: 253.9400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0837
    Cell Significance Index: 107.2000
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.9738
    Cell Significance Index: 8.3000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8899
    Cell Significance Index: 803.5100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4461
    Cell Significance Index: 72.5500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3768
    Cell Significance Index: 40.9800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.3617
    Cell Significance Index: 5.4500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3545
    Cell Significance Index: 7.5500
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 0.2575
    Cell Significance Index: 2.6700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1731
    Cell Significance Index: 11.9700
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.1587
    Cell Significance Index: 1.2400
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 0.1575
    Cell Significance Index: 1.5400
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.0450
    Cell Significance Index: 0.3600
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.0334
    Cell Significance Index: 0.2400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0016
    Cell Significance Index: 0.1000
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: -0.0012
    Cell Significance Index: -0.0100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0014
    Cell Significance Index: -1.0400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0039
    Cell Significance Index: -0.1000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0069
    Cell Significance Index: -12.9000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0095
    Cell Significance Index: -14.7000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0110
    Cell Significance Index: -14.9200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0126
    Cell Significance Index: -0.5700
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0178
    Cell Significance Index: -0.2600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0225
    Cell Significance Index: -16.4900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0228
    Cell Significance Index: -12.8800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0251
    Cell Significance Index: -13.6900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0255
    Cell Significance Index: -16.2100
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.0279
    Cell Significance Index: -0.3800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0345
    Cell Significance Index: -15.6700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0505
    Cell Significance Index: -14.5300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0517
    Cell Significance Index: -10.2600
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: -0.0573
    Cell Significance Index: -0.5100
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.0580
    Cell Significance Index: -0.9900
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: -0.0628
    Cell Significance Index: -0.6000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0646
    Cell Significance Index: -12.9500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0675
    Cell Significance Index: -4.0500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0676
    Cell Significance Index: -2.9400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0728
    Cell Significance Index: -12.4300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0776
    Cell Significance Index: -9.9500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0827
    Cell Significance Index: -14.9000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0924
    Cell Significance Index: -12.6900
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: -0.1056
    Cell Significance Index: -1.1700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1103
    Cell Significance Index: -16.0400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1136
    Cell Significance Index: -13.0100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1153
    Cell Significance Index: -14.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1173
    Cell Significance Index: -13.8300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1186
    Cell Significance Index: -14.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1334
    Cell Significance Index: -13.6300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1425
    Cell Significance Index: -4.5700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1439
    Cell Significance Index: -6.7700
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: -0.1522
    Cell Significance Index: -0.8300
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.1620
    Cell Significance Index: -1.6800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1964
    Cell Significance Index: -12.6700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1974
    Cell Significance Index: -14.7100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1988
    Cell Significance Index: -12.5300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1997
    Cell Significance Index: -13.4300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2034
    Cell Significance Index: -15.6100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2082
    Cell Significance Index: -16.4900
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: -0.2087
    Cell Significance Index: -1.6900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2269
    Cell Significance Index: -6.0700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2356
    Cell Significance Index: -14.4800
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.2660
    Cell Significance Index: -3.1400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2829
    Cell Significance Index: -13.1900
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: -0.2835
    Cell Significance Index: -1.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2855
    Cell Significance Index: -7.9800
  • Cell Name: immature NK T cell (CL0000914)
    Fold Change: -0.3008
    Cell Significance Index: -3.8500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3019
    Cell Significance Index: -16.9400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3026
    Cell Significance Index: -15.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3175
    Cell Significance Index: -8.1600
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: -0.3706
    Cell Significance Index: -3.7600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3714
    Cell Significance Index: -13.0100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3785
    Cell Significance Index: -16.7400
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: -0.3792
    Cell Significance Index: -3.2300
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: -0.3817
    Cell Significance Index: -3.9600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3917
    Cell Significance Index: -14.3800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3995
    Cell Significance Index: -13.0800
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: -0.4117
    Cell Significance Index: -3.3600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4123
    Cell Significance Index: -13.1300
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: -0.4268
    Cell Significance Index: -4.8100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4423
    Cell Significance Index: -16.7500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4509
    Cell Significance Index: -12.0400
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: -0.4521
    Cell Significance Index: -3.7100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4582
    Cell Significance Index: -9.5900
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.4674
    Cell Significance Index: -8.0300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Structure and Function:** PRF1 is a transmembrane protein with a pore-forming activity, allowing it to create pores in the target cell membrane, leading to cell lysis. 2. **Cellular Localization:** PRF1 is primarily expressed on the surface of cytotoxic T cells (CTLs), natural killer (NK) cells, and certain innate lymphoid cells. 3. **Regulation:** PRF1 expression is tightly regulated by various signaling pathways, including calcium signaling and protein kinase C activation. **Pathways and Functions:** PRF1 is involved in several key pathways, including: 1. **Apoptotic Process:** PRF1-mediated pore formation leads to the activation of caspases, resulting in apoptosis of infected cells and tumor cells. 2. **Cytolytic Granule Formation:** PRF1 is a key component of cytolytic granules, which are storage organelles containing proteases and other effector molecules that facilitate cell killing. 3. **Immune Response to Tumor Cells:** PRF1 plays a critical role in recognizing and eliminating tumor cells, thereby preventing tumor progression. 4. **Immune Response to Viruses:** PRF1 is also involved in the immune response to viral infections, where it helps to eliminate infected cells. **Clinical Significance:** PRF1 has significant implications in various diseases, including: 1. **Cancer:** Impaired PRF1 function has been linked to cancer progression and poor prognosis in several types of cancer, including leukemia, lymphoma, and breast cancer. 2. **Viral Infections:** PRF1 is essential for controlling viral infections, such as HIV, herpes simplex virus, and influenza. 3. **Immune-Mediated Diseases:** PRF1 dysfunction has been implicated in autoimmune diseases, such as rheumatoid arthritis and lupus. 4. **Immunodeficiency Disorders:** PRF1 mutations have been associated with immunodeficiency disorders, such as severe combined immunodeficiency (SCID). In conclusion, PRF1 is a critical protein that plays a pivotal role in immune defense against pathogens and cancer. Understanding the mechanisms and clinical significance of PRF1 is essential for developing effective therapeutic strategies to target its dysregulation in various diseases. **References:** * [Insert relevant references here] Note: As an expert immunologist, I would like to emphasize the importance of further research on PRF1 and its role in various diseases. This article aims to provide a comprehensive overview of the current knowledge on PRF1 and its clinical significance, highlighting the need for further investigation into its mechanisms and therapeutic potential.

Genular Protein ID: 3267466634

Symbol: PERF_HUMAN

Name: Perforin-1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3419519

Title: Structure and function of human perforin.

PubMed ID: 3419519

DOI: 10.1038/335448a0

PubMed ID: 2592021

Title: Molecular cloning and chromosomal assignment of a human perforin (PFP) gene.

PubMed ID: 2592021

DOI: 10.1007/bf02421177

PubMed ID: 2480391

Title: Structure of the human perforin gene. A simple gene organization with interesting potential regulatory sequences.

PubMed ID: 2480391

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8676885

Title: Target cell-induced perforin mRNA turnover in NK3.3 cells is mediated by multiple elements within the mRNA coding region.

PubMed ID: 8676885

DOI: 10.1016/0161-5890(95)00155-7

PubMed ID: 9058810

Title: Human autoreactive CD4+ T cell clones use perforin- or Fas/Fas ligand-mediated pathways for target cell lysis.

PubMed ID: 9058810

PubMed ID: 9164947

Title: Perforin, Fas/Fas ligand, and TNF-alpha pathways as specific and bystander killing mechanisms of hepatitis C virus-specific human CTL.

PubMed ID: 9164947

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 20038786

Title: Perforin activates clathrin- and dynamin-dependent endocytosis, which is required for plasma membrane repair and delivery of granzyme B for granzyme-mediated apoptosis.

PubMed ID: 20038786

DOI: 10.1182/blood-2009-10-246116

PubMed ID: 20889983

Title: Human perforin employs different avenues to damage membranes.

PubMed ID: 20889983

DOI: 10.1074/jbc.m110.169417

PubMed ID: 20225066

Title: Reciprocal granzyme/perforin-mediated death of human regulatory and responder T cells is regulated by interleukin-2 (IL-2).

PubMed ID: 20225066

DOI: 10.1007/s00109-010-0602-9

PubMed ID: 24088571

Title: Arf-like GTPase Arl8b regulates lytic granule polarization and natural killer cell-mediated cytotoxicity.

PubMed ID: 24088571

DOI: 10.1091/mbc.e13-05-0259

PubMed ID: 24558045

Title: The perforin pore facilitates the delivery of cationic cargos.

PubMed ID: 24558045

DOI: 10.1074/jbc.m113.544890

PubMed ID: 32299851

Title: Granzyme A from cytotoxic lymphocytes cleaves GSDMB to trigger pyroptosis in target cells.

PubMed ID: 32299851

DOI: 10.1126/science.aaz7548

PubMed ID: 2395434

Title: Localization and molecular modelling of the membrane-inserted domain of the ninth component of human complement and perforin.

PubMed ID: 2395434

DOI: 10.1016/0161-5890(90)90001-g

PubMed ID: 21037563

Title: The structural basis for membrane binding and pore formation by lymphocyte perforin.

PubMed ID: 21037563

DOI: 10.1038/nature09518

PubMed ID: 10583959

Title: Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

PubMed ID: 10583959

DOI: 10.1126/science.286.5446.1957

PubMed ID: 11179007

Title: Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

PubMed ID: 11179007

DOI: 10.1086/318796

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 555
  • Mass: 61377
  • Checksum: DDEDE0D1CAB7586E
  • Sequence:
  • MAARLLLLGI LLLLLPLPVP APCHTAARSE CKRSHKFVPG AWLAGEGVDV TSLRRSGSFP 
    VDTQRFLRPD GTCTLCENAL QEGTLQRLPL ALTNWRAQGS GCQRHVTRAK VSSTEAVARD 
    AARSIRNDWK VGLDVTPKPT SNVHVSVAGS HSQAANFAAQ KTHQDQYSFS TDTVECRFYS 
    FHVVHTPPLH PDFKRALGDL PHHFNASTQP AYLRLISNYG THFIRAVELG GRISALTALR 
    TCELALEGLT DNEVEDCLTV EAQVNIGIHG SISAEAKACE EKKKKHKMTA SFHQTYRERH 
    SEVVGGHHTS INDLLFGIQA GPEQYSAWVN SLPGSPGLVD YTLEPLHVLL DSQDPRREAL 
    RRALSQYLTD RARWRDCSRP CPPGRQKSPR DPCQCVCHGS AVTTQDCCPR QRGLAQLEVT 
    FIQAWGLWGD WFTATDAYVK LFFGGQELRT STVWDNNNPI WSVRLDFGDV LLATGGPLRL 
    QVWDQDSGRD DDLLGTCDQA PKSGSHEVRC NLNHGHLKFR YHARCLPHLG GGTCLDYVPQ 
    MLLGEPPGNR SGAVW

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.