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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000308 Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_000308.2, 119395728
Length 2254 bp
Structure linear
Update Date 17-APR-2013
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
332+g, tdbSNP:116893852
414+c, tdbSNP:188792776
459..461+dbSNP:
459..461+, ctgdbSNP:3080212
460..462+, tgcdbSNP:11468075
461..463+, gctdbSNP:10582052
472+a, tdbSNP:142125327
482+c, gdbSNP:181943893
482+, cta, gctdbSNP:79061377
533+c, tdbSNP:150140984
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
647+c, gdbSNP:742035
648+a, gdbSNP:11538053
657+c, gdbSNP:137868961
673+g, tdbSNP:142368579
697+c, tdbSNP:137854542
713+c, gdbSNP:146382561
793+dbSNP:
793+a, gdbSNP:199735882
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
992+c, tdbSNP:149793498
1022+a, cdbSNP:147908449
1046+dbSNP:
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+c, gdbSNP:199808601
1363+a, gdbSNP:151191436
1374+c, tdbSNP:200565348
1387+dbSNP:
1387+a, gdbSNP:199916179
1408+c, tdbSNP:140321228
1413+c, tdbSNP:150314625
1425+a, gdbSNP:112880409
1463+c, tdbSNP:200636455
1464+a, gdbSNP:137941635
1486+c, tdbSNP:142302144
1487+a, gdbSNP:74694805
1501+a, cdbSNP:138549425
1529+dbSNP:
1529+c, tdbSNP:201234134
1537+a, cdbSNP:78853032
1542+c, tdbSNP:201885451
1612+dbSNP:
1612+a, gdbSNP:137854543
1645+c, tdbSNP:137854548
1715+dbSNP:
1715+a, gdbSNP:41282776
1743+a, gdbSNP:137854547
1746+g, tdbSNP:137854540
1766+a, cdbSNP:1804212
1770+a, gdbSNP:144407534
1771+c, tdbSNP:185187245
1781+a, gdbSNP:25649
1785+a, gdbSNP:137854549
1794+dbSNP:
1794+a, gdbSNP:200051553
1796+c, gdbSNP:141528471
1810+a, cdbSNP:149971062
1812+a, gdbSNP:145261803
1824+a, gdbSNP:62213322
1845+c, tdbSNP:147472210
1941+a, cdbSNP:2664590
1970+c, tdbSNP:2664568
2103+a, cdbSNP:1804213
2166+a, gdbSNP:79280639
2190+c, tdbSNP:144703667
2204+c, tdbSNP:11544241
Gene SymbolCTSA
Gene SynonymGLB2; GSL; NGBE; PPCA; PPGB
Chromosome20
Locus Map20q13.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000308 Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA. On-demand TBD TBD
NM_001127695 Homo sapiens cathepsin A (CTSA), transcript variant 2, mRNA. On-demand TBD TBD
NM_001167594 Homo sapiens cathepsin A (CTSA), transcript variant 3, mRNA. On-demand TBD TBD
Title Role of cathepsin A and cathepsin C in the regulation of glycosidase activity .
Author Minarowska,A., Minarowski,L., Karwowska,A., Milewska,A.J. 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,K.D., Burret,M., Kalbacher,H., Boehm,B.O. 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,E.J., 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 Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies .
Author Tatano,Y., Takeuchi,N., Kuwahara,J., Sakuraba,H., Takahashi,T., Takada,G. and Itoh,K.
Journal J. Med. Invest. 53 (1-2), 103-112 (2006)
Title Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach .
Author Lewandrowski,U., Moebius,J., Walter,U. and Sickmann,A.
Journal Mol. Cell Proteomics 5 (2), 226-233 (2006)
Title Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum .
Author Morreau,H., Galjart,N.J., Willemsen,R., Gillemans,N., Zhou,X.Y. 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,X.Y., Galjart,N.J., 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,N.J., Morreau,H., Willemsen,R., Gillemans,N., Bonten,E.J. 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,H.L., Tan,F.L., Tamei,H., Beurling-Harbury,C., Li,X.Y., Skidgel,R.A. and Erdos,E.G.
Journal J. Biol. Chem. 265 (19), 11265-11272 (1990)


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