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2024-04-20 01:08:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000892 2252 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1),
mRNA.
ACCESSION NM_000892
VERSION NM_000892.3 GI:78191797
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 2252)
AUTHORS Verweij,N., Mahmud,H., Mateo Leach,I., de Boer,R.A., Brouwers,F.P.,
Yu,H., Asselbergs,F.W., Struck,J., Bakker,S.J., Gansevoort,R.T.,
Munroe,P.B., Hillege,H.L., van Veldhuisen,D.J., van Gilst,W.H.,
Sillje,H.H. and van der Harst,P.
TITLE Genome-wide association study on plasma levels of
midregional-proadrenomedullin and C-terminal-pro-endothelin-1
JOURNAL Hypertension 61 (3), 602-608 (2013)
PUBMED 23381795
REFERENCE 2 (bases 1 to 2252)
AUTHORS Kettunen,J., Tukiainen,T., Sarin,A.P., Ortega-Alonso,A.,
Tikkanen,E., Lyytikainen,L.P., Kangas,A.J., Soininen,P., Wurtz,P.,
Silander,K., Dick,D.M., Rose,R.J., Savolainen,M.J., Viikari,J.,
Kahonen,M., Lehtimaki,T., Pietilainen,K.H., Inouye,M.,
McCarthy,M.I., Jula,A., Eriksson,J., Raitakari,O.T., Salomaa,V.,
Kaprio,J., Jarvelin,M.R., Peltonen,L., Perola,M., Freimer,N.B.,
Ala-Korpela,M., Palotie,A. and Ripatti,S.
TITLE Genome-wide association study identifies multiple loci influencing
human serum metabolite levels
JOURNAL Nat. Genet. 44 (3), 269-276 (2012)
PUBMED 22286219
REMARK Publication Status: Online-Only
REFERENCE 3 (bases 1 to 2252)
AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
Gibbs,R.A. and Butte,N.F.
TITLE Novel genetic loci identified for the pathophysiology of childhood
obesity in the Hispanic population
JOURNAL PLoS ONE 7 (12), E51954 (2012)
PUBMED 23251661
REFERENCE 4 (bases 1 to 2252)
AUTHORS Inouye,M., Ripatti,S., Kettunen,J., Lyytikainen,L.P., Oksala,N.,
Laurila,P.P., Kangas,A.J., Soininen,P., Savolainen,M.J.,
Viikari,J., Kahonen,M., Perola,M., Salomaa,V., Raitakari,O.,
Lehtimaki,T., Taskinen,M.R., Jarvelin,M.R., Ala-Korpela,M.,
Palotie,A. and de Bakker,P.I.
TITLE Novel Loci for metabolic networks and multi-tissue expression
studies reveal genes for atherosclerosis
JOURNAL PLoS Genet. 8 (8), E1002907 (2012)
PUBMED 22916037
REFERENCE 5 (bases 1 to 2252)
AUTHORS Suhre,K., Shin,S.Y., Petersen,A.K., Mohney,R.P., Meredith,D.,
Wagele,B., Altmaier,E., Deloukas,P., Erdmann,J., Grundberg,E.,
Hammond,C.J., de Angelis,M.H., Kastenmuller,G., Kottgen,A.,
Kronenberg,F., Mangino,M., Meisinger,C., Meitinger,T., Mewes,H.W.,
Milburn,M.V., Prehn,C., Raffler,J., Ried,J.S., Romisch-Margl,W.,
Samani,N.J., Small,K.S., Wichmann,H.E., Zhai,G., Illig,T.,
Spector,T.D., Adamski,J., Soranzo,N. and Gieger,C.
CONSRTM CARDIoGRAM
TITLE Human metabolic individuality in biomedical and pharmaceutical
research
JOURNAL Nature 477 (7362), 54-60 (2011)
PUBMED 21886157
REMARK Publication Status: Online-Only
REFERENCE 6 (bases 1 to 2252)
AUTHORS Henderson,L.M., Figueroa,C.D., Muller-Esterl,W., Stain,A. and
Bhoola,K.D.
TITLE Immunovisualisation of plasma prekallikrein and H-kininogen on
human neutrophils and in human hepatocytes
JOURNAL Agents Actions Suppl. 38 (PT 1), 590-594 (1992)
PUBMED 1466300
REFERENCE 7 (bases 1 to 2252)
AUTHORS Beaubien,G., Rosinski-Chupin,I., Mattei,M.G., Mbikay,M.,
Chretien,M. and Seidah,N.G.
TITLE Gene structure and chromosomal localization of plasma kallikrein
JOURNAL Biochemistry 30 (6), 1628-1635 (1991)
PUBMED 1993180
REFERENCE 8 (bases 1 to 2252)
AUTHORS Thompson,R.E., Mandle,R. Jr. and Kaplan,A.P.
TITLE Studies of binding of prekallikrein and Factor XI to high molecular
weight kininogen and its light chain
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 76 (10), 4862-4866 (1979)
PUBMED 291905
REFERENCE 9 (bases 1 to 2252)
AUTHORS Mandle,R.J. Jr. and Kaplan,A.P.
TITLE Hageman-factor-dependent fibrinolysis: generation of fibrinolytic
activity by the interaction of human activated factor XI and
plasminogen
JOURNAL Blood 54 (4), 850-862 (1979)
PUBMED 89876
REFERENCE 10 (bases 1 to 2252)
AUTHORS Aznar,J.A., Espana,F., Aznar,J., Tascon,A. and Jimenez,C.
TITLE Fletcher factor deficiency: report of a new family
JOURNAL Scand J Haematol 21 (2), 94-98 (1978)
PUBMED 694428
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from M13143.2, CN265612.1 and
AW182528.1.
This sequence is a reference standard in the RefSeqGene project.
On Oct 27, 2005 this sequence version replaced gi:9257226.
Summary: Plasma prekallikrein is a glycoprotein that participates
in the surface-dependent activation of blood coagulation,
fibrinolysis, kinin generation and inflammation. It is synthesized
in the liver and secreted into the blood as a single polypeptide
chain. Plasma prekallikrein is converted to plasma kallikrein by
factor XIIa by the cleavage of an internal Arg-Ile bond. Plasma
kallikrein therefore is composed of a heavy chain and a light chain
held together by a disulphide bond. The heavy chain originates
from the amino-terminal end of the zymogen and contains 4 tandem
repeats of 90 or 91 amino acids. Each repeat harbors a novel
structure called the apple domain. The heavy chain is required for
the surface-dependent pro-coagulant activity of plasma kallikrein.
The light chain contains the active site or catalytic domain of the
enzyme and is homologous to the trypsin family of serine proteases.
Plasma prekallikrein deficiency causes a prolonged activated
partial thromboplastin time in patients. [provided by RefSeq, Jul
2008].
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 :: M13143.2, AK292624.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-498 M13143.2 1-498
499-499 CN265612.1 665-665
500-1831 M13143.2 500-1831
1832-2252 AW182528.1 1-421 c
FEATURES Location/Qualifiers
source 1..2252
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q35"
gene 1..2252
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="kallikrein B, plasma (Fletcher factor) 1"
/db_xref="GeneID:3818"
/db_xref="HGNC:6371"
/db_xref="MIM:229000"
exon 1..70
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 18
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:185309940"
misc_feature 27..29
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="upstream in-frame stop codon"
variation 54
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:188971793"
exon 71..129
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
CDS 72..1988
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/EC_number="3.4.21.34"
/note="Fletcher factor; plasma kallikrein heavy chain;
plasma kallikrein light chain; kininogenin; plasma
prekallikrein"
/codon_start=1
/product="plasma kallikrein preproprotein"
/protein_id="NP_000883.2"
/db_xref="GI:78191798"
/db_xref="CCDS:CCDS34120.1"
/db_xref="GeneID:3818"
/db_xref="HGNC:6371"
/db_xref="MIM:229000"
/translation="
MILFKQATYFISLFATVSCGCLTQLYENAFFRGGDVASMYTPNAQYCQMRCTFHPRCLLFSFLPASSINDMEKRFGCFLKDSVTGTLPKVHRTGAVSGHSLKQCGHQISACHRDIYKGVDMRGVNFNVSKVSSVEECQKRCTSNIRCQFFSYATQTFHKAEYRNNCLLKYSPGGTPTAIKVLSNVESGFSLKPCALSEIGCHMNIFQHLAFSDVDVARVLTPDAFVCRTICTYHPNCLFFTFYTNVWKIESQRNVCLLKTSESGTPSSSTPQENTISGYSLLTCKRTLPEPCHSKIYPGVDFGGEELNVTFVKGVNVCQETCTKMIRCQFFTYSLLPEDCKEEKCKCFLRLSMDGSPTRIAYGTQGSSGYSLRLCNTGDNSVCTTKTSTRIVGGTNSSWGEWPWQVSLQVKLTAQRHLCGGSLIGHQWVLTAAHCFDGLPLQDVWRIYSGILNLSDITKDTPFSQIKEIIIHQNYKVSEGNHDIALIKLQAPLNYTEFQKPICLPSKGDTSTIYTNCWVTGWGFSKEKGEIQNILQKVNIPLVTNEECQKRYQDYKITQRMVCAGYKEGGKDACKGDSGGPLVCKHNGMWRLVGITSWGEGCARREQPGVYTKVAEYMDWILEKTQSSDGKAQMQSPA
"
sig_peptide 72..128
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 120..374
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="Subfamily of PAN/APPLE-like domains; present in
plasma prekallikrein/coagulation factor XI, microneme
antigen proteins, and a few prokaryotic proteins.
PAN/APPLE domains fulfill diverse biological functions by
mediating protein-protein or...; Region:
APPLE_Factor_XI_like; cd01100"
/db_xref="CDD:29034"
mat_peptide 129..1241
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/product="plasma kallikrein B1 heavy chain"
misc_feature order(132..134,381..383)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(180..182,186..188,219..221)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="putative binding site; other site"
/db_xref="CDD:29034"
misc_feature order(210..212,300..302)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(222..224,240..242)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature 390..644
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="Subfamily of PAN/APPLE-like domains; present in
plasma prekallikrein/coagulation factor XI, microneme
antigen proteins, and a few prokaryotic proteins.
PAN/APPLE domains fulfill diverse biological functions by
mediating protein-protein or...; Region:
APPLE_Factor_XI_like; cd01100"
/db_xref="CDD:29034"
misc_feature order(402..404,651..653)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(450..452,456..458,489..491)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="putative binding site; other site"
/db_xref="CDD:29034"
misc_feature 450..452
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature order(480..482,567..569)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(492..494,510..512)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature 660..>848
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="Subfamily of PAN/APPLE-like domains; present in
plasma prekallikrein/coagulation factor XI, microneme
antigen proteins, and a few prokaryotic proteins.
PAN/APPLE domains fulfill diverse biological functions by
mediating protein-protein or...; Region:
APPLE_Factor_XI_like; cd01100"
/db_xref="CDD:29034"
misc_feature order(672..674,921..923)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(720..722,726..728,759..761)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="putative binding site; other site"
/db_xref="CDD:29034"
misc_feature order(750..752,837..839)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(762..764,780..782)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature 933..1175
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="Subfamily of PAN/APPLE-like domains; present in
plasma prekallikrein/coagulation factor XI, microneme
antigen proteins, and a few prokaryotic proteins.
PAN/APPLE domains fulfill diverse biological functions by
mediating protein-protein or...; Region:
APPLE_Factor_XI_like; cd01100"
/db_xref="CDD:29034"
misc_feature order(945..947,1194..1196)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(993..995,999..1001,1032..1034)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="putative binding site; other site"
/db_xref="CDD:29034"
misc_feature 993..995
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature order(1023..1025,1110..1112)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(1035..1037,1053..1055)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(1089..1091,1104..1106)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(1218..1220,1578..1580)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature 1239..1241
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:01992"
mat_peptide 1242..1985
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/product="plasma kallikrein B1 light chain"
misc_feature 1242..1934
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="Trypsin-like serine protease; Many of these are
synthesized as inactive precursor zymogens that are
cleaved during limited proteolysis to generate their
active forms. Alignment contains also inactive enzymes
that have substitutions of the catalytic triad...; Region:
Tryp_SPc; cd00190"
/db_xref="CDD:29152"
misc_feature 1242..1244
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="cleavage site"
/db_xref="CDD:29152"
misc_feature 1257..1259
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature order(1326..1328,1374..1376)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(1371..1373,1518..1520,1803..1805)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="active site"
/db_xref="CDD:29152"
misc_feature 1428..1430
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature 1551..1553
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature order(1620..1622,1821..1823)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(1713..1715,1758..1760)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(1785..1787,1860..1862,1866..1868)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/note="substrate binding sites [chemical binding]; other
site"
/db_xref="CDD:29152"
misc_feature order(1791..1793,1875..1877)
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
variation 93
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/db_xref="dbSNP:200217461"
exon 130..292
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 139
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:148277206"
variation 176
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:138408657"
variation 242
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="t"
/db_xref="dbSNP:374181790"
variation 281
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/db_xref="dbSNP:142462112"
exon 293..399
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 302
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:200544250"
variation 331
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:376147935"
variation 346
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:369958652"
variation 351
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:146728804"
variation 380
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:139282630"
exon 400..559
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 408
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:121964949"
variation 409
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="g"
/db_xref="dbSNP:202142549"
variation 425
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:112767656"
variation 438
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:121964952"
variation 477
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:143821671"
variation 485
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:375684310"
variation 496
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="g"
/db_xref="dbSNP:148183376"
variation 498
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:367548212"
variation 499
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:3733402"
variation 501
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:146204944"
variation 503
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:371821443"
variation 532
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="g"
/db_xref="dbSNP:373868869"
variation 549
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:368052024"
exon 560..669
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 587
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:139178458"
variation 588
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:372296815"
variation 590
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:4253350"
variation 603
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:4253257"
variation 618
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:199794258"
variation 623
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:142304505"
exon 670..829
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 674
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:369163219"
variation 677
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/db_xref="dbSNP:4253373"
variation 678
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:188038815"
variation 694
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/db_xref="dbSNP:145640112"
variation 700
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/db_xref="dbSNP:2278542"
variation 701
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:142771228"
variation 710
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:193077305"
variation 752
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:372957856"
variation 753
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:201643294"
variation 760
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="t"
/db_xref="dbSNP:142420360"
variation 772
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:200869290"
variation 778
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/db_xref="dbSNP:202078971"
variation 802
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="g"
/db_xref="dbSNP:201135012"
exon 830..939
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 843
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:146650319"
variation 862
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:147918230"
variation 876
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:112140807"
variation 877
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="g"
/db_xref="dbSNP:4253376"
variation 879
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:113884104"
variation 881
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:138340104"
variation 899
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:180933633"
exon 940..1102
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 943
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:375911727"
variation 964
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:200398188"
variation 1002
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:4253377"
variation 1008
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:201530401"
variation 1010
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:145225796"
variation 1016
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:137905627"
variation 1027
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:142408237"
variation 1034
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:370107454"
variation 1050
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:199806113"
variation 1086
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:145972257"
exon 1103..1215
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 1124
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:148654968"
variation 1131
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:141269743"
variation 1143
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:4253379"
variation 1169
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:139190582"
variation 1209
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:375447593"
variation 1211
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:368165642"
variation 1212
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:4253301"
exon 1216..1384
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 1240
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:369481447"
variation 1260
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:371482413"
variation 1276
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:121964950"
variation 1284
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:61733605"
variation 1304
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:147666093"
variation 1305
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="g"
/db_xref="dbSNP:367814390"
variation 1322
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:140719431"
variation 1330
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:186254196"
variation 1338
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:144683471"
variation 1367
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:148974369"
exon 1385..1560
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 1395
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/db_xref="dbSNP:199533101"
variation 1396
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/db_xref="dbSNP:4253316"
variation 1398
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:78905162"
variation 1407
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:145932193"
variation 1408
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:151099382"
variation 1431
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:141092949"
variation 1440
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:201759345"
variation 1443
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:145188249"
variation 1466
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:137860769"
variation 1467
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:140816495"
variation 1474
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/db_xref="dbSNP:144643373"
variation 1481
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:138430642"
variation 1495
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:370315439"
variation 1527
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:149279838"
variation 1557
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:144541812"
exon 1561..1656
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 1575
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:148045615"
variation 1619
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="g"
/db_xref="dbSNP:368044114"
variation 1631
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:376558433"
variation 1632
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:143680259"
variation 1645
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:200977094"
variation 1646
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:370717826"
exon 1657..1796
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 1676
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:375425733"
variation 1714
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:121964951"
variation 1717
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:367568756"
variation 1750
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:4253325"
variation 1751
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:144642181"
variation 1755
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:61750344"
variation 1765
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:150832692"
exon 1797..2247
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/inference="alignment:Splign:1.39.8"
variation 1797
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:367948170"
variation 1832
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:925453"
variation 1838
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:374301217"
variation 1843
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:146525902"
variation 1876
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:377736514"
variation 1882
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:138872241"
variation 1893
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="g"
/db_xref="dbSNP:200255707"
variation 1928
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="g"
/db_xref="dbSNP:145347307"
variation 1942
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="c"
/db_xref="dbSNP:61733943"
STS 1964..2144
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/standard_name="STS-M13143"
/db_xref="UniSTS:13798"
variation 1965
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:370171736"
variation 1972
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="t"
/db_xref="dbSNP:143866894"
STS 2023..2237
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/standard_name="SHGC4-1080"
/db_xref="UniSTS:91460"
STS 2035..2134
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/standard_name="D4S3127"
/db_xref="UniSTS:2248"
variation 2037
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:78169369"
variation 2053
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:115755099"
variation 2068
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:76171085"
variation 2106
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:184023911"
variation 2108
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="t"
/db_xref="dbSNP:3087505"
variation 2118
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="a"
/replace="g"
/db_xref="dbSNP:188802095"
variation 2134
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:181521872"
variation 2152
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="c"
/replace="g"
/db_xref="dbSNP:143533462"
polyA_signal 2228..2233
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
variation 2245
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
/replace="g"
/replace="t"
/db_xref="dbSNP:186263767"
polyA_site 2247
/gene="KLKB1"
/gene_synonym="KLK3; PPK"
ORIGIN
agaacagcttgaagaccgttcatttttaagtgacaagagactcacctccaagaagcaattgtgttttcagaatgattttattcaagcaagcaacttatttcatttccttgtttgctacagtttcctgtggatgtctgactcaactctatgaaaacgccttcttcagaggtggggatgtagcttccatgtacaccccaaatgcccaatactgccagatgaggtgcacattccacccaaggtgtttgctattcagttttcttccagcaagttcaatcaatgacatggagaaaaggtttggttgcttcttgaaagatagtgttacaggaaccctgccaaaagtacatcgaacaggtgcagtttctggacattccttgaagcaatgtggtcatcaaataagtgcttgccatcgagacatttataaaggagttgatatgagaggagtcaattttaatgtgtctaaggttagcagtgttgaagaatgccaaaaaaggtgcaccagtaacattcgctgccagtttttttcatatgccacgcaaacatttcacaaggcagagtaccggaacaattgcctattaaagtacagtcccggaggaacacctaccgctataaaggtgctgagtaacgtggaatctggattctcactgaagccctgtgccctttcagaaattggttgccacatgaacatcttccagcatcttgcgttctcagatgtggatgttgccagggttctcactccagatgcttttgtgtgtcggaccatctgcacctatcaccccaactgcctcttctttacattctatacaaatgtatggaaaatcgagtcacaaagaaatgtttgtcttcttaaaacatctgaaagtggcacaccaagttcctctactcctcaagaaaacaccatatctggatatagccttttaacctgcaaaagaactttacctgaaccctgccattctaaaatttacccgggagttgactttggaggagaagaattgaatgtgacttttgttaaaggagtgaatgtttgccaagagacttgcacaaagatgattcgctgtcagtttttcacttattctttactcccagaagactgtaaggaagagaagtgtaagtgtttcttaagattatctatggatggttctccaactaggattgcgtatgggacacaagggagctctggttactctttgagattgtgtaacactggggacaactctgtctgcacaacaaaaacaagcacacgcattgttggaggaacaaactcttcttggggagagtggccctggcaggtgagcctgcaggtgaagctgacagctcagaggcacctgtgtggagggtcactcataggacaccagtgggtcctcactgctgcccactgctttgatgggcttcccctgcaggatgtttggcgcatctatagtggcattttaaatctgtcagacattacaaaagatacacctttctcacaaataaaagagattattattcaccaaaactataaagtctcagaagggaatcatgatatcgccttgataaaactccaggctcctttgaattacactgaattccaaaaaccaatatgcctaccttccaaaggtgacacaagcacaatttataccaactgttgggtaaccggatggggcttctcgaaggagaaaggtgaaatccaaaatattctacaaaaggtaaatattcctttggtaacaaatgaagaatgccagaaaagatatcaagattataaaataacccaacggatggtctgtgctggctataaagaagggggaaaagatgcttgtaagggagattcaggtggtcccttagtttgcaaacacaatggaatgtggcgtttggtgggcatcaccagctggggtgaaggctgtgcccgcagggagcaacctggtgtctacaccaaagtcgctgagtacatggactggattttagagaaaacacagagcagtgatggaaaagctcagatgcagtcaccagcatgagaagcagtccagagtctaggcaatttttacaacctgagttcaagtcaaattctgagcctggggggtcctcatctgcaaagcatggagagtggcatcttctttgcatcctaaggacgaaaaacacagtgcactcagagctgctgaggacaatgtctggctgaagcccgctttcagcacgccgtaaccaggggctgacaatgcgaggtcgcaactgagatctccatgactgtgtgttgtgaaataaaatggtgaaagatcaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3818 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: IEA
GeneID:3818 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:3818 -> Biological process: GO:0002542 [Factor XII activation] evidence: TAS
GeneID:3818 -> Biological process: GO:0006508 [proteolysis] evidence: IEA
GeneID:3818 -> Biological process: GO:0007596 [blood coagulation] evidence: TAS
GeneID:3818 -> Biological process: GO:0007597 [blood coagulation, intrinsic pathway] evidence: TAS
GeneID:3818 -> Biological process: GO:0022617 [extracellular matrix disassembly] evidence: TAS
GeneID:3818 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
GeneID:3818 -> Biological process: GO:0031638 [zymogen activation] evidence: TAS
GeneID:3818 -> Biological process: GO:0031639 [plasminogen activation] evidence: IDA
GeneID:3818 -> Biological process: GO:0042730 [fibrinolysis] evidence: IEA
GeneID:3818 -> Biological process: GO:0051919 [positive regulation of fibrinolysis] evidence: IDA
GeneID:3818 -> Cellular component: GO:0005576 [extracellular region] evidence: NAS
GeneID:3818 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
GeneID:3818 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA
GeneID:3818 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_000883 -> EC 3.4.21.34
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.