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Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu17877 Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu17877C Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000308.2, 119395728
Length 1497 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.
Product lysosomal protective protein isoform a precursor
Comment

Summary: This gene encodes a glycoprotein which associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high molecular weight multimers. The formation of this complex provides a protective role for stability and activity. Deficiencies in this gene are linked to multiple forms of galactosialidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) encodes the longer isoform (a).

RefSeq NP_000299.2
CDS 375..1871
Misc Feature(1)363..365
Misc Feature(2)543..1856
Exon (1)1..428
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (2)429..622
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (3)623..734
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (4)735..785
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (5)786..872
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (6)873..1028
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (7)1029..1120
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (8)1121..1205
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (9)1206..1297
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (10)1298..1376
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (11)1377..1516
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (12)1517..1592
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (13)1593..1682
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (14)1683..1787
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Exon (15)1788..2241
Gene:CTSA
Gene Synonym:GLB2; GSL; NGBE; PPCA; PPGB
Translation MTSSPRAPPGEQGRGGAEMIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLA KQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFL VQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFR LFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFA YYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCA GGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLN NPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMA CNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTD KPLAAFTMFSRFLNKQPY
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Position Chain Variation Link
53+dbSNP:
53+a, gdbSNP:2868362
152+a, gdbSNP:117529875
203+a, cdbSNP:184484066
301+c, tdbSNP:371431700
323+a, gdbSNP:373024722
332+g, tdbSNP:116893852
352+c, tdbSNP:369598034
412+a, gdbSNP:372800409
414+c, tdbSNP:188792776
421+a, gdbSNP:377390291
459..461+dbSNP:
459..461+(ctg)8, 9dbSNP:72555383
459..461+, ctgdbSNP:3080212
461..463+, gctdbSNP:10582052
469..471+, tgcdbSNP:11468075
472+a, tdbSNP:142125327
480..482+, ctgdbSNP:397839006
482..484+, gctdbSNP:397784956
482+c, gdbSNP:181943893
513+g, tdbSNP:376350093
533+c, tdbSNP:150140984
542+c, gdbSNP:368879245
568+a, gdbSNP:78991921
574+a, gdbSNP:137854541
588+c, tdbSNP:138615064
619+a, gdbSNP:201198067
621+c, tdbSNP:28934603
629+dbSNP:
629+a, gdbSNP:149268665
634+c, tdbSNP:11538052
complement(647)-g, cdbSNP:742035
647+c, gdbSNP:386505274
648+a, gdbSNP:11538053
657+c, gdbSNP:137868961
673+g, tdbSNP:142368579
697+c, tdbSNP:137854542
699+c, tdbSNP:373635254
713+c, gdbSNP:146382561
793+dbSNP:
793+a, gdbSNP:199735882
794+c, tdbSNP:372253178
816+a, gdbSNP:376642070
822+a, gdbSNP:137854545
833+c, tdbSNP:6032579
856+c, tdbSNP:11538054
864+a, gdbSNP:11538051
879+dbSNP:
879+c, tdbSNP:146280370
895+c, tdbSNP:139760741
896+c, tdbSNP:190565374
902+a, gdbSNP:142034414
912+c, gdbSNP:150665171
913+a, gdbSNP:139920208
974+a, cdbSNP:4942
976+a, gdbSNP:376113662
977+c, tdbSNP:369410570
987+c, gdbSNP:373498418
992+c, tdbSNP:149793498
997+c, tdbSNP:387906224
1022+a, cdbSNP:147908449
1032+dbSNP:
1032+c, tdbSNP:377543110
1046+c, tdbSNP:112744373
1135+dbSNP:
1135+c, tdbSNP:137854546
1141+c, tdbSNP:139831405
1173+a, tdbSNP:137854544
1174+a, tdbSNP:201535203
1207+dbSNP:
1207+c, tdbSNP:145354134
1282+c, tdbSNP:201630196
1283+a, gdbSNP:147628590
1308+dbSNP:
1308+a, gdbSNP:142892564
1313+c, tdbSNP:143206710
1348+a, c, gdbSNP:199808601
1362+c, tdbSNP:368697828
1363+a, gdbSNP:151191436
1374+c, tdbSNP:200565348
1382+dbSNP:
1382+a, gdbSNP:370041055
1387+a, gdbSNP:199916179
1408+c, tdbSNP:140321228
1425+a, gdbSNP:112880409
1437+c, gdbSNP:374059459
1459+c, tdbSNP:368108194
1463+c, tdbSNP:200636455
1464+a, gdbSNP:137941635
1468+a, gdbSNP:375345060
1486+c, tdbSNP:142302144
1487+a, gdbSNP:74694805
1503+c, tdbSNP:368229042
1524+dbSNP:
1524+a, gdbSNP:369583698
1527+a, gdbSNP:372863499
1529+c, tdbSNP:201234134
1537+a, cdbSNP:78853032
1538+c, tdbSNP:372617705
1542+c, tdbSNP:201885451
1550+c, tdbSNP:375666119
1552+a, gdbSNP:370763298
1612+dbSNP:
1612+a, gdbSNP:137854543
1645+c, tdbSNP:137854548
1705+dbSNP:
1705+g, tdbSNP:370723777
1715+a, gdbSNP:41282776
1719+a, gdbSNP:375579156
1731+a, gdbSNP:368625215
1742+c, tdbSNP:372913528
1743+a, gdbSNP:137854547
1746+g, tdbSNP:137854540
1766+a, cdbSNP:1804212
1770+a, gdbSNP:144407534
1771+c, tdbSNP:185187245
1781+a, gdbSNP:25649
1781+a, gdbSNP:386569613
1785+a, gdbSNP:137854549
1789+dbSNP:
1789+g, tdbSNP:373421813
1793+c, tdbSNP:369254598
1794+a, gdbSNP:200051553
1796+c, gdbSNP:141528471
1810+a, cdbSNP:149971062
1811+c, gdbSNP:377008749
1812+a, gdbSNP:145261803
1824+a, gdbSNP:62213322
1845+c, tdbSNP:147472210
1885+c, gdbSNP:373417551
1894+a, gdbSNP:376590502
1921+c, tdbSNP:370691011
1922+c, gdbSNP:375835315
1941+a, cdbSNP:2664590
1970+c, tdbSNP:2664568
2103+a, cdbSNP:1804213
2166+a, gdbSNP:79280639
2190+c, tdbSNP:144703667
2204+c, tdbSNP:11544241
2241+a, cdbSNP:368532767
Gene SymbolCTSA
Gene SynonymGLB2; GSL; NGBE; PPCA; PPGB
Chromosome20
Locus Map20q13.1
Title Inhibition of CatA: an emerging strategy for the treatment of heart failure .
Author Ruf S, Buning C, Schreuder H, Linz W, Hubschle T, Linz D, Ruetten H, Wirth K and Sadowski T.
Journal Future Med Chem 5 (4), 399-409 (2013)
Title Galactosialidosis: review and analysis of CTSA gene mutations .
Author Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A and Morrone A.
Journal Orphanet J Rare Dis 8, 114 (2013)
Title Role of cathepsin A and cathepsin C in the regulation of glycosidase activity .
Author Minarowska A, Minarowski L, Karwowska A, Milewska AJ and Gacko M.
Journal Folia Histochem. Cytobiol. 50 (1), 20-24 (2012)
Title Cathepsin A is expressed in primary human antigen-presenting cells .
Author Reich M, Spindler KD, Burret M, Kalbacher H, Boehm BO and Burster T.
Journal Immunol. Lett. 128 (2), 143-147 (2010)
Title Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization .
Author Bonten EJ, Campos Y, Zaitsev V, Nourse A, Waddell B, Lewis W, Taylor G and d'Azzo A.
Journal J. Biol. Chem. 284 (41), 28430-28441 (2009)
Title Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum .
Author Morreau H, Galjart NJ, Willemsen R, Gillemans N, Zhou XY and d'Azzo A.
Journal J. Biol. Chem. 267 (25), 17949-17956 (1992)
Title Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20 .
Author Halal F, Chitayat D, Parikh H, Rosenblatt B, Tranchemontagne J, Vekemans M and Potier M.
Journal Am. J. Med. Genet. 43 (3), 576-579 (1992)
Title A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable .
Author Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H and d'Azzo A.
Journal EMBO J. 10 (13), 4041-4048 (1991)
Title Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function .
Author Galjart NJ, Morreau H, Willemsen R, Gillemans N, Bonten EJ and d'Azzo A.
Journal J. Biol. Chem. 266 (22), 14754-14762 (1991)
Title A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal 'protective protein' .
Author Jackman HL, Tan FL, Tamei H, Beurling-Harbury C, Li XY, Skidgel RA and Erdos EG.
Journal J. Biol. Chem. 265 (19), 11265-11272 (1990)

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