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Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000129 Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_000129.3, 119395708
Length 3863 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.
Product coagulation factor XIII A chain precursor
Comment

Summary: This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008].

RefSeq NP_000120.2
CDS 124..2322
Misc Feature(1)4..6
Misc Feature(2)4..6
Misc Feature(3)127..237
Misc Feature(4)127..129
Misc Feature(5)235..240
Misc Feature(6)259..624
Misc Feature(7)<973..1347
Misc Feature(8)1048..1323
Misc Feature(9)1684..1989
Misc Feature(10)2020..2304
Exon (1)1..105
Gene:F13A1
Gene Synonym:F13A
Exon (2)106..253
Gene:F13A1
Gene Synonym:F13A
Exon (3)254..442
Gene:F13A1
Gene Synonym:F13A
Exon (4)443..694
Gene:F13A1
Gene Synonym:F13A
Exon (5)695..813
Gene:F13A1
Gene Synonym:F13A
Exon (6)814..921
Gene:F13A1
Gene Synonym:F13A
Exon (7)922..1096
Gene:F13A1
Gene Synonym:F13A
Exon (8)1097..1235
Gene:F13A1
Gene Synonym:F13A
Exon (9)1236..1339
Gene:F13A1
Gene Synonym:F13A
Exon (10)1340..1428
Gene:F13A1
Gene Synonym:F13A
Exon (11)1429..1582
Gene:F13A1
Gene Synonym:F13A
Exon (12)1583..1870
Gene:F13A1
Gene Synonym:F13A
Exon (13)1871..2031
Gene:F13A1
Gene Synonym:F13A
Exon (14)2032..2168
Gene:F13A1
Gene Synonym:F13A
Exon (15)2169..3863
Gene:F13A1
Gene Synonym:F13A
Translation MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDT NKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPV PIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVAVWTPYGVLRTSRNPETD TYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCL YVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDIL LEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGN VNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTPQENSDGMYRCGPASVQAIKH GHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITD TYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITF RNNSHNRYTITAYLSANITFYTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLL EQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGTQVVGSDMTVTVEFTNPLKET LRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYG ELDVQIQRRPSM
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Position Chain Variation Link
complement(29)-g, adbSNP:192331652
complement(51)-t, gdbSNP:187436054
complement(91)-g, cdbSNP:3024311
complement(145)-t, cdbSNP:138865075
complement(225)-g, adbSNP:187027323
complement(226)-t, gdbSNP:5985
complement(240)-g, adbSNP:181003679
complement(241)-g, adbSNP:3024472
complement(255)-dbSNP:
complement(255)-c, adbSNP:148065753
complement(269)-g, adbSNP:143616920
complement(273)-g, adbSNP:148898698
complement(283)-t, adbSNP:138690353
complement(306)-c, adbSNP:121913067
complement(312)-t, cdbSNP:201149092
complement(388)-t, cdbSNP:1050777
complement(446)-dbSNP:
complement(446)-t, cdbSNP:145761347
complement(476..477)-, adbSNP:34982225
complement(487)-t, cdbSNP:142064728
complement(498)-g, cdbSNP:147577601
complement(502)-g, adbSNP:150249786
complement(520)-c, adbSNP:141030077
complement(536)-t, cdbSNP:202087752
complement(554)-t, cdbSNP:142954620
complement(631)-t, cdbSNP:140712764
complement(637)-t, cdbSNP:121913065
complement(640)-t, cdbSNP:142994919
complement(642)-g, cdbSNP:199948219
complement(653)-t, gdbSNP:139753440
complement(728)-dbSNP:
complement(728)-t, cdbSNP:146801542
complement(737)-t, adbSNP:3024477
complement(783)-g, adbSNP:143741081
complement(843)-dbSNP:
complement(843)-t, cdbSNP:140082834
851+c, tdbSNP:267606788
complement(864)-t, adbSNP:146083032
complement(896)-t, cdbSNP:142092590
complement(905)-g, adbSNP:121913071
complement(951)-dbSNP:
complement(951)-g, adbSNP:200522503
complement(974)-g, adbSNP:121913074
complement(988)-t, gdbSNP:201752338
complement(995)-g, adbSNP:149582674
complement(1012)-t, cdbSNP:199564311
complement(1030)-g, adbSNP:201512428
complement(1034)-t, cdbSNP:139164988
complement(1072)-t, gdbSNP:121913073
complement(1103)-dbSNP:
complement(1103)-g, adbSNP:121913072
complement(1107)-c, adbSNP:202247810
complement(1119)-c, adbSNP:5981
complement(1143..1144)-, adbSNP:35516060
complement(1155)-g, adbSNP:142274716
complement(1175)-t, adbSNP:2230848
complement(1203)-g, adbSNP:145775675
complement(1218)-g, adbSNP:143382521
complement(1307)-dbSNP:
complement(1307)-g, adbSNP:76451285
complement(1340)-dbSNP:
complement(1340)-g, cdbSNP:138036988
complement(1360)-t, cdbSNP:139636536
complement(1366)-t, gdbSNP:121913070
complement(1409)-g, adbSNP:143513902
complement(1430)-dbSNP:
complement(1430)-g, adbSNP:148847048
complement(1438)-t, cdbSNP:145376560
complement(1449)-c, adbSNP:121913066
complement(1528)-g, cdbSNP:150455213
complement(1542)-t, cdbSNP:3024438
complement(1589)-dbSNP:
complement(1589)-t, cdbSNP:146866566
complement(1627)-g, adbSNP:121913068
complement(1674)-g, adbSNP:143608819
complement(1681)-t, cdbSNP:140037971
complement(1699)-t, cdbSNP:144411857
complement(1717)-t, cdbSNP:55874054
complement(1727)-t, cdbSNP:151032137
complement(1743)-g, adbSNP:142891701
complement(1775)-t, cdbSNP:5984
complement(1787)-g, adbSNP:201203914
complement(1809)-g, adbSNP:145630742
complement(1810)-g, adbSNP:121913069
complement(1812)-t, cdbSNP:58315745
complement(1817)-t, cdbSNP:5982
complement(1827)-g, adbSNP:5986
complement(1841)-g, adbSNP:113599940
complement(1846)-g, cdbSNP:201444282
complement(1849)-t, cdbSNP:61734486
complement(1853)-g, adbSNP:143711562
complement(1854)-t, cdbSNP:137945179
complement(1889)-dbSNP:
complement(1889)-t, adbSNP:5983
complement(1900)-t, cdbSNP:138754417
complement(1913)-c, adbSNP:201173378
complement(1931)-g, adbSNP:148207995
complement(1956)-g, adbSNP:143769071
complement(1960)-t, cdbSNP:140646752
complement(1983)-g, cdbSNP:138943514
complement(1984)-c, adbSNP:145180358
complement(1987)-t, cdbSNP:141416839
complement(1996)-c, adbSNP:145219717
complement(2001)-t, gdbSNP:149970442
complement(2002)-t, cdbSNP:200830173
complement(2016)-g, adbSNP:199801179
complement(2031)-t, cdbSNP:185994460
complement(2035)-dbSNP:
complement(2035)-g, adbSNP:200803360
complement(2072)-g, adbSNP:17852475
complement(2074)-g, adbSNP:5987
complement(2077)-g, cdbSNP:5988
2107+c, tdbSNP:267606789
complement(2159)-t, adbSNP:201302247
complement(2168)-g, adbSNP:121913064
complement(2177)-dbSNP:
complement(2177)-t, cdbSNP:184352526
complement(2191)-t, cdbSNP:144433298
2233+c, tdbSNP:267606787
complement(2253)-t, cdbSNP:140537838
complement(2262)-g, adbSNP:200672690
complement(2270)-t, cdbSNP:147189258
complement(2274)-g, adbSNP:145319551
complement(2292)-t, cdbSNP:5989
complement(2389)-g, adbSNP:182425546
complement(2411)-g, adbSNP:3024462
complement(2412)-g, adbSNP:190347458
complement(2434)-t, gdbSNP:3024463
complement(2448)-t, cdbSNP:1050782
complement(2482)-g, adbSNP:1050783
complement(2495)-g, adbSNP:184669742
complement(2514)-t, cdbSNP:113481403
complement(2530)-g, adbSNP:192234804
complement(2543)-g, adbSNP:3024464
complement(2564)-t, cdbSNP:201487086
complement(2740)-g, cdbSNP:187149870
complement(2750)-t, gdbSNP:138139907
complement(2765)-g, adbSNP:3024486
complement(2885)-t, gdbSNP:184052140
complement(2907)-t, adbSNP:3024465
complement(2909)-t, cdbSNP:75981686
complement(2928)-g, adbSNP:148907610
complement(2937..2938)-, tdbSNP:34270368
complement(2941)-g, adbSNP:191569585
complement(3065)-g, adbSNP:12862
complement(3118)-t, cdbSNP:56039031
complement(3288)-c, adbSNP:138629563
complement(3317)-t, gdbSNP:3024466
complement(3362)-g, adbSNP:150404339
complement(3364)-g, cdbSNP:113785944
complement(3367)-g, cdbSNP:3024487
complement(3389)-t, cdbSNP:11511
complement(3567)-t, adbSNP:140551231
complement(3572)-g, adbSNP:77424672
complement(3575)-t, c, adbSNP:1803604
complement(3622)-g, adbSNP:57154463
complement(3710)-t, cdbSNP:14901
complement(3762)-t, cdbSNP:183287566
complement(3822)-t, cdbSNP:143723129
Gene SymbolF13A1
Gene SynonymF13A
Chromosome6
Locus Map6p25.3-p24.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000129 Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. On-demand $849.00 20
Title Substrates of Factor XIII-A: roles in thrombosis and wound healing .
Author Richardson,V.R., Cordell,P., Standeven,K.F. and Carter,A.M.
Journal Clin. Sci. 124 (3), 123-137 (2013)
Title Polymorphisms of genes encoding coagulation factors II, V, VII, and .
Author Kopyta,I.A., Emich-Widera,E., Balcerzyk,A., Niemiec,P., Zak,I., Pilarska,E., Kacinski,M., Wendorff,J., Nowak,T., Iwanicki,T., Pienczk-Reclawowicz,K. and Palatynska,K.
Journal Neurologist 18 (5), 282-286 (2012)
Title Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency .
Author Souri,M., Yee,V.C., Fujii,N. and Ichinose,A.
Journal Thromb. Res. 130 (3), 506-510 (2012)
Title Androgen levels and metabolic parameters are associated with a genetic variant of F13A1 in women with polycystic ovary syndrome .
Author Schweighofer,N., Lerchbaum,E., Trummer,O., Schwetz,V., Pilz,S., Pieber,T.R. and Obermayer-Pietsch,B.
Journal Gene 504 (1), 133-139 (2012)
Title Expression of coagulation factor XIII subunit A in acute promyelocytic leukemia .
Author Simon,A., Bagoly,Z., Hevessy,Z., Csathy,L., Katona,E., Vereb,G., Ujfalusi,A., Szerafin,L., Muszbek,L. and Kappelmayer,J.
Journal Cytometry B Clin Cytom 82 (4), 209-216 (2012)
Title Identification of a point mutation in factor XIII A subunit deficiency .
Author Board,P., Coggan,M. and Miloszewski,K.
Journal Blood 80 (4), 937-941 (1992)
Title Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III .
Author Kamura,T., Okamura,T., Murakawa,M., Tsuda,H., Teshima,T., Shibuya,T., Harada,M. and Niho,Y.
Journal J. Clin. Invest. 90 (2), 315-319 (1992)
Title The presence of a covalently cross-linked matrix in human platelets .
Author Harsfalvi,J., Fesus,L., Tarcsa,E., Laczko,J. and Loewy,A.G.
Journal Biochim. Biophys. Acta 1073 (2), 268-274 (1991)
Title Crystallization of blood coagulation factor XIII by an automated procedure .
Author Hilgenfeld,R., Liesum,A., Storm,R., Metzner,H.J. and Karges,H.E.
Journal FEBS Lett. 265 (1-2), 110-112 (1990)
Title Expression, purification, and characterization of human factor XIII in Saccharomyces cerevisiae .
Author Bishop,P.D., Teller,D.C., Smith,R.A., Lasser,G.W., Gilbert,T. and Seale,R.L.
Journal Biochemistry 29 (7), 1861-1869 (1990)


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