P14222

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession PERF_HUMAN; P14222;
Entrez ID 5551
GenBank Protein ID NM_001083116.1; NM_005041.4;
GenBank Nucleotide ID NP_001076585.1; NP_005032.2;
Protein Name Perforin-1 (P1) (Cytolysin) (Lymphocyte pore-forming protein) (PFP)
Gene Name PRF1; PFP
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionPlays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes.
Sequence
(Fasta)
MAARLLLLGI LLLLLPLPVP APCHTAARSE CKRSHKFVPG AWLAGEGVDV TSLRRSGSFP 60
VDTQRFLRPD GTCTLCENAL QEGTLQRLPL ALTNWRAQGS GCQRHVTRAK VSSTEAVARD 120
AARSIRNDWK VGLDVTPKPT SNVHVSVAGS HSQAANFAAQ KTHQDQYSFS TDTVECRFYS 180
FHVVHTPPLH PDFKRALGDL PHHFNASTQP AYLRLISNYG THFIRAVELG GRISALTALR 240
TCELALEGLT DNEVEDCLTV EAQVNIGIHG SISAEAKACE EKKKKHKMTA SFHQTYRERH 300
SEVVGGHHTS INDLLFGIQA GPEQYSAWVN SLPGSPGLVD YTLEPLHVLL DSQDPRREAL 360
RRALSQYLTD RARWRDCSRP CPPGRQKSPR DPCQCVCHGS AVTTQDCCPR QRGLAQLEVT 420
FIQAWGLWGD WFTATDAYVK LFFGGQELRT STVWDNNNPI WSVRLDFGDV LLATGGPLRL 480
QVWDQDSGRD DDLLGTCDQA PKSGSHEVRC NLNHGHLKFR YHARCLPHLG GGTCLDYVPQ 540
MLLGEPPGNR SGAVW 556

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1GlycosylationFamilial hemophagocytic lymphohistiocytosisCN4922186995
[Reference]: Fatal immune dysregulation due to a gain of glycosylation mutation in lymphocyte perforin.

※ Disease Cross-ref Annotation

DatabaseAnnotation
Cancer Gene Census
various leukaemia, lymphoma
CTD (Curated)
(count: 5)
MESH:D000741 ; Anemia, Aplastic
MESH:D001321 ; Autistic Disorder
MESH:C537250 ; Hemophagocytic lymphohistiocytosis, familial, 2
MESH:D065626 ; Non-alcoholic Fatty Liver Disease
MESH:D008228 ; Lymphoma, Non-Hodgkin
HGMD
(count: 96)
(view all)
CD023850; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD993068; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD040316; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD060647; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD050466; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD023851; Haemophagocytic lymphohistiocytosis, familial; Small deletions
GWASdb
(count: 1)
rs7080373; Parkinson's disease; Parkinson's disease

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 2)
112       HVTRAKVSSTEAVAR     dbPAF
533       LPHLGGGTCLDYVPQ     dbPAF

※ Protein-Protein Interaction

NetworkInteraction
ABSource
F5H6B8P14222BioGRID
F5HB16P14222BioGRID
P02768P14222BioGRID
P07478P14222BioGRID
P10124P14222IntAct
P10144P14222HPRD; IntAct
P14222P14222DIP; IntAct
P14222P27797HPRD
P14222P50748BioGRID
P14222P60709BioGRID
P14222Q13601BioGRID
P14222Q8IZT6BioGRID
P14222Q9GZR7HPRD; IntAct; MINT