LOCUS       NM_001083116            2500 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens perforin 1 (PRF1), transcript variant 2, mRNA.
ACCESSION   NM_001083116
VERSION     NM_001083116.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2500)
  AUTHORS   You,Y., Wu,W. and Li,B.
  TITLE     Familial hemophagocytic phohistiocytosis induced by PRF1 mutation
            with neurologic manifestations as the initial clinical
            presentations: A case report
  JOURNAL   Medicine (Baltimore) 102 (26), e34198 (2023)
   PUBMED   37390248
  REMARK    GeneRIF: Familial hemophagocytic phohistiocytosis induced by PRF1
            mutation with neurologic manifestations as the initial clinical
            presentations: A case report.
REFERENCE   2  (bases 1 to 2500)
  AUTHORS   Sommerer,Y., Dobricic,V., Schilling,M., Ohlei,O., Sabet,S.S.,
            Wesse,T., Fuss,J., Franzenburg,S., Franke,A., Parkkinen,L.,
            Lill,C.M. and Bertram,L.
  TITLE     Entorhinal cortex epigenome-wide association study highlights four
            novel loci showing differential methylation in Alzheimer's disease
  JOURNAL   Alzheimers Res Ther 15 (1), 92 (2023)
   PUBMED   37149695
  REMARK    GeneRIF: Entorhinal cortex epigenome-wide association study
            highlights four novel loci showing differential methylation in
            Alzheimer's disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2500)
  AUTHORS   Wu,W.H., Chen,C.J., Yu,L., Ma,X.M., Huang,J.Q. and Chen,L.T.
  TITLE     [Gene Polymorphisms of Patients with Lymphoma-Associated
            Hemophagocytic Syndrome in Longyan area, Fujian Province]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 31 (1), 104-108 (2023)
   PUBMED   36765484
  REMARK    GeneRIF: [Gene Polymorphisms of Patients with Lymphoma-Associated
            Hemophagocytic Syndrome in Longyan area, Fujian Province].
REFERENCE   4  (bases 1 to 2500)
  AUTHORS   Li,X., Yin,Z., Yan,W., Wang,M., Xue,L., Zhou,Q. and Sun,Y.
  TITLE     Baseline red blood cell distribution width and perforin, dynamic
            levels of interleukin 6 and lactate are predictors of mortality in
            patients with sepsis
  JOURNAL   J Clin Lab Anal 37 (3), e24838 (2023)
   PUBMED   36631067
  REMARK    GeneRIF: Baseline red blood cell distribution width and perforin,
            dynamic levels of interleukin 6 and lactate are predictors of
            mortality in patients with sepsis.
REFERENCE   5  (bases 1 to 2500)
  AUTHORS   Willenbring,R.C. and Johnson,A.J.
  TITLE     Finding a Balance between Protection and Pathology: The Dual Role
            of Perforin in Human Disease
  JOURNAL   Int J Mol Sci 18 (8), 1608 (2017)
   PUBMED   28757574
  REMARK    GeneRIF: Study focuses on the role of perforin in both protecting
            and promoting human disease. It concludes with a novel hypothesis
            that diversity observed in the PRF1 gene may be an example of
            selective advantage that protects an individual from
            perforin-mediated pathology, such as blood-brain barrier
            disruption. [review]
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2500)
  AUTHORS   Zhang,K., Astigarraga,I., Bryceson,Y., Lehmberg,K., Machowicz,R.,
            Marsh,R., Sieni,E., Wang,Z. and Nichols,K.E.
  TITLE     Familial Hemophagocytic Lymphohistiocytosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301617
REFERENCE   7  (bases 1 to 2500)
  AUTHORS   Fink,T.M., Zimmer,M., Weitz,S., Tschopp,J., Jenne,D.E. and
            Lichter,P.
  TITLE     Human perforin (PRF1) maps to 10q22, a region that is syntenic with
            mouse chromosome 10
  JOURNAL   Genomics 13 (4), 1300-1302 (1992)
   PUBMED   1505959
REFERENCE   8  (bases 1 to 2500)
  AUTHORS   Peitsch,M.C., Amiguet,P., Guy,R., Brunner,J., Maizel,J.V. Jr. and
            Tschopp,J.
  TITLE     Localization and molecular modelling of the membrane-inserted
            domain of the ninth component of human complement and perforin
  JOURNAL   Mol Immunol 27 (7), 589-602 (1990)
   PUBMED   2395434
REFERENCE   9  (bases 1 to 2500)
  AUTHORS   Young,J.D., Cohn,Z.A. and Podack,E.R.
  TITLE     The ninth component of complement and the pore-forming protein
            (perforin 1) from cytotoxic T cells: structural, immunological, and
            functional similarities
  JOURNAL   Science 233 (4760), 184-190 (1986)
   PUBMED   2425429
REFERENCE   10 (bases 1 to 2500)
  AUTHORS   Young,J.D., Hengartner,H., Podack,E.R. and Cohn,Z.A.
  TITLE     Purification and characterization of a cytolytic pore-forming
            protein from granules of cloned lymphocytes with natural killer
            activity
  JOURNAL   Cell 44 (6), 849-859 (1986)
   PUBMED   2420467
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA941244.1, X13224.1,
            BC047695.1 and BQ654088.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001083116.2.
            
            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].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279851.3847.1,
                                           DRR138524.1033948.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155751 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000441259.2/ ENSP00000398568.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-525               DA941244.1         35-559
            526-1119            X13224.1           399-992
            1120-1890           BC047695.1         1039-1809
            1891-1891           BQ654088.1         383-383
            1892-2500           BC047695.1         1811-2419
FEATURES             Location/Qualifiers
     source          1..2500
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2500
                     /gene="PRF1"
                     /gene_synonym="HPLH2; P1; PFP"
                     /note="perforin 1"
                     /db_xref="GeneID:5551"
                     /db_xref="HGNC:HGNC:9360"
                     /db_xref="MIM:170280"
     exon            1..97
                     /gene="PRF1"
                     /gene_synonym="HPLH2; P1; PFP"
                     /inference="alignment:Splign:2.1.0"
     exon            98..666
                     /gene="PRF1"
                     /gene_synonym="HPLH2; P1; PFP"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..1795
                     /gene="PRF1"
                     /gene_synonym="HPLH2; P1; PFP"
                     /note="cytolysin; lymphocyte pore-forming protein;
                     perforin 1 (pore forming protein)"
                     /codon_start=1
                     /product="perforin-1 precursor"
                     /protein_id="NP_001076585.1"
                     /db_xref="CCDS:CCDS7305.1"
                     /db_xref="GeneID:5551"
                     /db_xref="HGNC:HGNC:9360"
                     /db_xref="MIM:170280"
                     /translation="MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLA
                     GEGVDVTSLRRSGSFPVDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGC
                     QRHVTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQ
                     KTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISN
                     YGTHFIRAVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEA
                     KACEEKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPG
                     SPGLVDYTLEPLHVLLDSQDPRREALRRALSQYLTDRARWRDCSRPCPPGRQKSPRDP
                     CQCVCHGSAVTTQDCCPRQRGLAQLEVTFIQAWGLWGDWFTATDAYVKLFFGGQELRT
                     STVWDNNNPIWSVRLDFGDVLLATGGPLRLQVWDQDSGRDDDLLGTCDQAPKSGSHEV
                     RCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQMLLGEPPGNRSGAVW"
     exon            667..2500
                     /gene="PRF1"
                     /gene_synonym="HPLH2; P1; PFP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2479..2484
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRF1"
                     /gene_synonym="HPLH2; P1; PFP"
                     /note="hexamer: AATAAA"
     polyA_site      2500
                     /gene="PRF1"
                     /gene_synonym="HPLH2; P1; PFP"
                     /note="major polyA site"
ORIGIN      
        1 acagtgggct gcctgggggg ctgatgccac cattccagga gcctcggtga agagaggata
       61 tccatctgtg tagccgcttc tctatacggg attccagagc ccaagtgccc cctgtctctg
      121 cagctccatg gcagcccgtc tgctcctcct gggcatcctt ctcctgctgc tgcccctgcc
      181 cgtccctgcc ccgtgccaca cagccgcacg ctcagagtgc aagcgcagcc acaagttcgt
      241 gcctggtgca tggctggccg gggagggtgt ggacgtgacc agcctccgcc gctcgggctc
      301 cttcccagtg gacacacaaa ggttcctgcg gcccgacggc acctgcaccc tctgtgaaaa
      361 tgccctacag gagggcaccc tccagcgcct gcctctggcg ctcaccaact ggcgggccca
      421 gggctctggc tgccagcgcc atgtaaccag ggccaaagtc agctccactg aagctgtggc
      481 ccgggatgcg gctcgtagca tccgcaacga ctggaaggtc gggctggacg tgactcctaa
      541 gcccaccagc aatgtgcatg tgtctgtggc cggctcacac tcacaggcag ccaactttgc
      601 agcccagaag acccaccagg accagtacag cttcagcact gacacggtgg agtgccgctt
      661 ctacagtttc catgtggtac acactccccc gctgcaccct gacttcaaga gggccctcgg
      721 ggacctgccc caccacttca acgcctccac ccagcccgcc tacctcaggc ttatctccaa
      781 ctacggcacc cacttcatcc gggctgtgga gctgggtggc cgcatatcgg ccctcactgc
      841 cctgcgcacc tgcgagctgg ccctggaagg gctcacggac aacgaggtgg aggactgcct
      901 gactgtcgag gcccaggtca acataggcat ccacggcagc atctctgccg aagccaaggc
      961 ctgtgaggag aagaagaaga agcacaagat gacggcctcc ttccaccaaa cctaccggga
     1021 gcgccactcg gaagtggttg gcggccatca cacctccatt aacgacctgc tgttcgggat
     1081 ccaggccggg cccgagcagt actcagcctg ggtaaactcg ctgcccggca gccctggcct
     1141 ggtggactac accctggaac ccctgcacgt gctgctggac agccaggacc cgcggcggga
     1201 ggcactgagg agggccctga gtcagtacct gacggacagg gctcgctgga gggactgcag
     1261 ccggccgtgc ccaccagggc ggcagaagag cccccgagac ccatgccagt gtgtgtgcca
     1321 tggctcagcg gtcaccaccc aggactgctg ccctcggcag aggggcctgg cccagctgga
     1381 ggtgaccttc atccaagcat ggggcctgtg gggggactgg ttcactgcca cggatgccta
     1441 tgtgaagctc ttctttggtg gccaggagct gaggacgagc accgtgtggg acaataacaa
     1501 ccccatctgg tcagtgcggc tggattttgg ggatgtgctc ctggccacag gggggcccct
     1561 gaggttgcag gtctgggatc aggactctgg cagggacgat gacctccttg gcacctgtga
     1621 tcaggctccc aagtctggtt cccatgaggt gagatgcaac ctgaatcatg gccacctaaa
     1681 attccgctat catgccaggt gcttgcccca cctgggagga ggcacctgcc tggactatgt
     1741 cccccaaatg cttctggggg agcctccagg aaaccggagt ggggccgtgt ggtgagaaca
     1801 gtgagcttgg aaaggaccag tatgcttgga ctgaaggggt tctcacagtg ggagccaggg
     1861 ctgtcttcgt attcccatta gaccaagctt gtccaacccg aggcccgcat gcggcccagg
     1921 atggctttga atgcggccca acgcaaattc gcaaactttc ttaaaacatt atgagtttct
     1981 ttttgctatt tttttttttt ttttagctca tcggctatcg ttagtgctag tggattttac
     2041 atgtggccca acacaattct tcttccaacg tggcccagag aagccaaaag attggatacg
     2101 catcagacag atggaaaagg gagattcaga ctgtttttca gggaggtggc tgggtttaca
     2161 cgctaatccc gattcaccct gtccaaactg cctaagccct ccgccattct caagccctgc
     2221 agtcacagct acacagatca cagcttcagc caggagctgg gcagaaggcc aagaggctgt
     2281 tcccaccagg ctgctcaggg ctggtctttt aggacccttc ccttgagccc tctatggtgt
     2341 ggcaaagcct tcattgcctt aactggagcc ccatcagctc cagctgctct gtcttctttg
     2401 cccacaatgc tttgcccctg agacaaatgg aggcctgtcc tgacctgtct caccatgtac
     2461 atagcttgat aaagggccaa taaatatgat gttatggtga
//
