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2024-04-20 10:02:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001083116 2555 bp mRNA linear PRI 02-JUN-2013
DEFINITION Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript
variant 2, mRNA.
ACCESSION NM_001083116
VERSION NM_001083116.1 GI:133908620
KEYWORDS RefSeq.
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 2555)
AUTHORS Lopez,J.A., Susanto,O., Jenkins,M.R., Lukoyanova,N., Sutton,V.R.,
Law,R.H., Johnston,A., Bird,C.H., Bird,P.I., Whisstock,J.C.,
Trapani,J.A., Saibil,H.R. and Voskoboinik,I.
TITLE Perforin forms transient pores on the target cell plasma membrane
to facilitate rapid access of granzymes during killer cell attack
JOURNAL Blood 121 (14), 2659-2668 (2013)
PUBMED 23377437
REMARK GeneRIF: This study defines the final sequence of events
controlling cytotoxic lymphocyte immune defense, in which perforin
pores assemble on the target cell plasma membrane, ensuring
efficient delivery of lethal granzymes.
REFERENCE 2 (bases 1 to 2555)
AUTHORS Li,S., Ma,D., Zhang,L., Li,X., Deng,C., Qin,X., Zhang,T., Wang,L.,
Shi,Q., Wang,Q., Wu,Q., Zhang,X., Zhang,F. and Li,Y.
TITLE High levels of FCgammaR3A and PRF1 expression in peripheral blood
mononuclear cells from patients with primary biliary cirrhosis
JOURNAL Dig. Dis. Sci. 58 (2), 458-464 (2013)
PUBMED 23179144
REMARK GeneRIF: FCgammaR3A and PRF1 may participate in the pathogenesis
and progression of primary biliary cirrhosis.
REFERENCE 3 (bases 1 to 2555)
AUTHORS Sepulveda,F.E., Debeurme,F., Menasche,G., Kurowska,M., Cote,M.,
Pachlopnik Schmid,J., Fischer,A. and de Saint Basile,G.
TITLE Distinct severity of HLH in both human and murine mutants with
complete loss of cytotoxic effector PRF1, RAB27A, and STX11
JOURNAL Blood 121 (4), 595-603 (2013)
PUBMED 23160464
REMARK GeneRIF: Distinct severity of HLH in both human and murine mutants
with complete loss of cytotoxic effector PRF1, RAB27A, and STX11.
REFERENCE 4 (bases 1 to 2555)
AUTHORS Ibana,J.A., Myers,L., Porretta,C., Lewis,M., Taylor,S.N.,
Martin,D.H. and Quayle,A.J.
TITLE The major CD8 T cell effector memory subset in the normal and
Chlamydia trachomatis-infected human endocervix is low in perforin
JOURNAL BMC Immunol. 13, 66 (2012)
PUBMED 23216954
REMARK GeneRIF: Chlamydia trachomatis-infected tissues have significantly
higher numbers of CD3 and CD8 T cells compared to non-infected
tissues (p<0.01), and that the majority of CD8+ cells do not
express perforin in situ.
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 2555)
AUTHORS Wang,L.F., Wang,F., Li,J.T., Wen,W.H., Zhao,J., Jia,L.T.,
Meng,Y.L., Cao,Y.X., Yao,L.B., Chen,S.Y., Xu,Y.M. and Yang,A.G.
TITLE Ectopically expressed perforin-1 is proapoptotic in tumor cell
lines by increasing caspase-3 activity and the nuclear
translocation of cytochrome C
JOURNAL PLoS ONE 7 (7), E40639 (2012)
PUBMED 22829880
REMARK GeneRIF: Expression of PRF in human cancer cells induces cell
growth inhibition and cell death, as evidenced by chromosome
condensation and DNA fragmentation, increased caspase-3 activity,
and the release of AIF and cytochrome c from the mitochondria.
REFERENCE 6 (bases 1 to 2555)
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 7 (bases 1 to 2555)
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 8 (bases 1 to 2555)
AUTHORS Lichtenheld,M.G. and Podack,E.R.
TITLE Structure of the human perforin gene. A simple gene organization
with interesting potential regulatory sequences
JOURNAL J. Immunol. 143 (12), 4267-4274 (1989)
PUBMED 2480391
REFERENCE 9 (bases 1 to 2555)
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 2555)
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.
This sequence is a reference standard in the RefSeqGene project.
Summary: The protein encoded by this gene has structural and
functional similarities to complement component 9 (C9). Like C9,
this protein creates transmembrane tubules and is capable of lysing
non-specifically a variety of target cells. This protein is one of
the main cytolytic proteins of cytolytic granules, and it is known
to be a key effector molecule for T-cell- and natural
killer-cell-mediated cytolysis. Defects in this gene cause familial
hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and
lethal autosomal recessive disorder of early childhood. Alternative
splicing results in multiple transcript variants encoding the same
protein. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (2) differs in the 5' UTR compared
to variant 1. 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##
CDS exon combination :: FJ555237.1, AK312754.1 [ECO:0000331]
RNAseq introns :: single sample supports all introns
ERS025088, ERS025089 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-559 DA941244.1 1-559
560-1153 X13224.1 399-992
1154-1924 BC047695.1 1039-1809
1925-1925 BQ654088.1 383-383
1926-2555 BC047695.1 1811-2440
FEATURES Location/Qualifiers
source 1..2555
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q22"
gene 1..2555
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/note="perforin 1 (pore forming protein)"
/db_xref="GeneID:5551"
/db_xref="HGNC:9360"
/db_xref="MIM:170280"
exon 1..131
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/inference="alignment:Splign:1.39.8"
misc_feature 105..107
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/note="upstream in-frame stop codon"
exon 132..700
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/inference="alignment:Splign:1.39.8"
CDS 162..1829
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/note="lymphocyte pore forming protein; cytolysin;
perforin-1; lymphocyte pore-forming protein"
/codon_start=1
/product="perforin-1 precursor"
/protein_id="NP_001076585.1"
/db_xref="GI:133908621"
/db_xref="CCDS:CCDS7305.1"
/db_xref="GeneID:5551"
/db_xref="HGNC:9360"
/db_xref="MIM:170280"
/translation="
MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREALRRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVTFIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRLQVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQMLLGEPPGNRSGAVW
"
sig_peptide 162..224
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 225..1826
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/product="perforin-1"
misc_feature 660..1268
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/note="membrane-attack complex / perforin; Region: MACPF;
smart00457"
/db_xref="CDD:197737"
misc_feature 801..803
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/inference="non-experimental evidence, no additional
details recorded"
/note="Important for oligomerization (By similarity);
propagated from UniProtKB/Swiss-Prot (P14222.1); other
site"
misc_feature 1191..1193
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/inference="non-experimental evidence, no additional
details recorded"
/note="Important for oligomerization (By similarity);
propagated from UniProtKB/Swiss-Prot (P14222.1); other
site"
misc_feature 1323..1703
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/note="C2 domain of Perforin; Region: C2_Perforin;
cd04032"
/db_xref="CDD:175998"
misc_feature order(1449..1451,1467..1469,1611..1613,1617..1619,
1635..1637)
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/note="putative Ca2+ binding site [ion binding]; other
site"
/db_xref="CDD:175998"
variation 257
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/replace="a"
/replace="g"
/db_xref="dbSNP:2228018"
exon 701..2534
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/inference="alignment:Splign:1.39.8"
misc_feature 774..782
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/note="pot. N-linked glycosylation site"
variation 983
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/replace="c"
/replace="t"
/db_xref="dbSNP:885821"
variation 1061
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/replace="c"
/replace="t"
/db_xref="dbSNP:885822"
variation 1437
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1042652"
variation 1538
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/replace="c"
/replace="t"
/db_xref="dbSNP:2228019"
STS 1874..2083
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/standard_name="G29802"
/db_xref="UniSTS:78816"
variation 1925
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1889490"
STS 2200..2321
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
/standard_name="STS-L40557"
/db_xref="UniSTS:18569"
polyA_signal 2513..2518
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
polyA_site 2534
/gene="PRF1"
/gene_synonym="FLH2; HPLH2; P1; PFN1; PFP"
ORIGIN
gaagtgatgtgagtggtggctggtgcaaggagccacagtgggctgcctggggggctgatgccaccattccaggagcctcggtgaagagaggatatccatctgtgtagccgcttctctatacgggattccagagcccaagtgccccctgtctctgcagctccatggcagcccgtctgctcctcctgggcatccttctcctgctgctgcccctgcccgtccctgccccgtgccacacagccgcacgctcagagtgcaagcgcagccacaagttcgtgcctggtgcatggctggccggggagggtgtggacgtgaccagcctccgccgctcgggctccttcccagtggacacacaaaggttcctgcggcccgacggcacctgcaccctctgtgaaaatgccctacaggagggcaccctccagcgcctgcctctggcgctcaccaactggcgggcccagggctctggctgccagcgccatgtaaccagggccaaagtcagctccactgaagctgtggcccgggatgcggctcgtagcatccgcaacgactggaaggtcgggctggacgtgactcctaagcccaccagcaatgtgcatgtgtctgtggccggctcacactcacaggcagccaactttgcagcccagaagacccaccaggaccagtacagcttcagcactgacacggtggagtgccgcttctacagtttccatgtggtacacactcccccgctgcaccctgacttcaagagggccctcggggacctgccccaccacttcaacgcctccacccagcccgcctacctcaggcttatctccaactacggcacccacttcatccgggctgtggagctgggtggccgcatatcggccctcactgccctgcgcacctgcgagctggccctggaagggctcacggacaacgaggtggaggactgcctgactgtcgaggcccaggtcaacataggcatccacggcagcatctctgccgaagccaaggcctgtgaggagaagaagaagaagcacaagatgacggcctccttccaccaaacctaccgggagcgccactcggaagtggttggcggccatcacacctccattaacgacctgctgttcgggatccaggccgggcccgagcagtactcagcctgggtaaactcgctgcccggcagccctggcctggtggactacaccctggaacccctgcacgtgctgctggacagccaggacccgcggcgggaggcactgaggagggccctgagtcagtacctgacggacagggctcgctggagggactgcagccggccgtgcccaccagggcggcagaagagcccccgagacccatgccagtgtgtgtgccatggctcagcggtcaccacccaggactgctgccctcggcagaggggcctggcccagctggaggtgaccttcatccaagcatggggcctgtggggggactggttcactgccacggatgcctatgtgaagctcttctttggtggccaggagctgaggacgagcaccgtgtgggacaataacaaccccatctggtcagtgcggctggattttggggatgtgctcctggccacaggggggcccctgaggttgcaggtctgggatcaggactctggcagggacgatgacctccttggcacctgtgatcaggctcccaagtctggttcccatgaggtgagatgcaacctgaatcatggccacctaaaattccgctatcatgccaggtgcttgccccacctgggaggaggcacctgcctggactatgtcccccaaatgcttctgggggagcctccaggaaaccggagtggggccgtgtggtgagaacagtgagcttggaaaggaccagtatgcttggactgaaggggttctcacagtgggagccagggctgtcttcgtattcccattagaccaagcttgtccaacccgaggcccgcatgcggcccaggatggctttgaatgcggcccaacgcaaattcgcaaactttcttaaaacattatgagtttctttttgctattttttttttttttttagctcatcggctatcgttagtgctagtggattttacatgtggcccaacacaattcttcttccaacgtggcccagagaagccaaaagattggatacgcatcagacagatggaaaagggagattcagactgtttttcagggaggtggctgggtttacacgctaatcccgattcaccctgtccaaactgcctaagccctccgccattctcaagccctgcagtcacagctacacagatcacagcttcagccaggagctgggcagaaggccaagaggctgttcccaccaggctgctcagggctggtcttttaggacccttcccttgagccctctatggtgtggcaaagccttcattgccttaactggagccccatcagctccagctgctctgtcttctttgcccacaatgctttgcccctgagacaaatggaggcctgtcctgacctgtctcaccatgtacatagcttgataaagggccaataaatatgatgttatggtgaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5551 -> Molecular function: GO:0005509 [calcium ion binding] evidence: ISS
GeneID:5551 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:5551 -> Molecular function: GO:0022829 [wide pore channel activity] evidence: IDA
GeneID:5551 -> Biological process: GO:0002357 [defense response to tumor cell] evidence: ISS
GeneID:5551 -> Biological process: GO:0002418 [immune response to tumor cell] evidence: ISS
GeneID:5551 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:5551 -> Biological process: GO:0006968 [cellular defense response] evidence: TAS
GeneID:5551 -> Biological process: GO:0019835 [cytolysis] evidence: ISS
GeneID:5551 -> Biological process: GO:0051260 [protein homooligomerization] evidence: IDA
GeneID:5551 -> Biological process: GO:0051607 [defense response to virus] evidence: ISS
GeneID:5551 -> Cellular component: GO:0005576 [extracellular region] evidence: IEA
GeneID:5551 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:5551 -> Cellular component: GO:0016021 [integral to membrane] evidence: IDA
GeneID:5551 -> Cellular component: GO:0016023 [cytoplasmic membrane-bounded vesicle] evidence: IEA
GeneID:5551 -> Cellular component: GO:0031904 [endosome lumen] evidence: IEA
GeneID:5551 -> Cellular component: GO:0044194 [cytolytic granule] evidence: ISS
by
@meso_cacase at
DBCLS
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