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Homo sapiens cystatin C (CST3), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000099 Homo sapiens cystatin C (CST3), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10

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RefSeq Version NM_000099.3, 568599816
Length 929 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens cystatin C (CST3), transcript variant 1, mRNA.
Product cystatin-C precursor
Comment

Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Dec 2013].


Transcript Variant: This variant (1) differs in the 3' UTR compared to variant 2. Variants 1 and 2 encode the same protein.

RefSeq NP_000090.1
CDS 187..627
Misc Feature(1)178..180
Misc Feature(2)295..615
Misc Feature(3)order(295..297,427..435,439..441)
Misc Feature(4)295..297
Misc Feature(5)295..297
Misc Feature(6)349..351
Misc Feature(7)427..441
Misc Feature(8)454..456
Misc Feature(9)568..570
Misc Feature(10)598..600
Exon (1)1..429
Gene:CST3
Gene Synonym:ARMD11
Exon (2)430..543
Gene:CST3
Gene Synonym:ARMD11
Exon (3)544..886
Gene:CST3
Gene Synonym:ARMD11
Translation MAGPLRAPLLLLAILAVALAVSPAAGSSPGKPPRLVGGPMDASVEEEGVRRALDFAVGEY NKASNDMYHSRALQVVRARKQIVAGVNYFLDVELGRTTCTKTQPNLDNCPFHDQPHLKRK AFCSFQIYAVPWQGTMTLSKSTCQDA
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Position Chain Variation Link
30+dbSNP:
30+c, gdbSNP:5030707
complement(34)-c, adbSNP:71334202
complement(107)-t, cdbSNP:113065546
complement(115)-t, gdbSNP:73318135
complement(138..139)-, ggagctagatagagadbSNP:11467210
171+a, cdbSNP:11542361
complement(190)-c, adbSNP:200984369
193+a, gdbSNP:11542357
198+c, tdbSNP:1055084
235+a, gdbSNP:11542359
complement(242)-g, adbSNP:113550984
255+c, tdbSNP:11542356
complement(258)-t, cdbSNP:368080734
259+a, gdbSNP:1064039
complement(274)-t, cdbSNP:200245337
complement(284)-g, adbSNP:375692362
285+a, gdbSNP:11542363
complement(291)-t, cdbSNP:6138024
299+c, gdbSNP:11542354
303+a, cdbSNP:11542365
complement(303)-t, gdbSNP:386518836
complement(316)-t, cdbSNP:373213120
complement(324)-t, cdbSNP:201089355
complement(365)-t, cdbSNP:377450166
complement(386)-t, adbSNP:373177867
397+a, cdbSNP:11542364
complement(397)-c, adbSNP:386518835
398+a, gdbSNP:11542360
complement(398)-g, adbSNP:386518833
complement(400)-c, adbSNP:202145575
complement(403)-g, adbSNP:111341893
complement(405)-t, cdbSNP:377587451
complement(409)-t, cdbSNP:373743268
422+a, gdbSNP:11542353
complement(449)-dbSNP:
complement(449)-t, cdbSNP:371124032
467+a, tdbSNP:28939068
472+c, gdbSNP:11542355
complement(479)-g, adbSNP:200037041
complement(486)-g, adbSNP:200401591
complement(524)-t, gdbSNP:201184716
535+c, tdbSNP:1135036
complement(541..542)-, cdbSNP:34930898
complement(549)-dbSNP:
complement(549)-t, adbSNP:145812457
complement(554)-t, cdbSNP:149051742
567+c, tdbSNP:1135147
complement(570)-g, adbSNP:137970982
complement(571)-t, cdbSNP:371605207
complement(603)-t, cdbSNP:77000936
complement(610)-t, cdbSNP:141643699
complement(621)-g, adbSNP:201422446
complement(638)-g, adbSNP:371538575
complement(639)-t, cdbSNP:200979591
662+c, tdbSNP:3209261
673+c, tdbSNP:11542358
complement(675)-g, adbSNP:368947792
679+a, cdbSNP:11542362
complement(679)-c, adbSNP:386518834
710+a, cdbSNP:11504
744+a, cdbSNP:3199331
759+a, gdbSNP:1058745
777+c, tdbSNP:14766
784..785+c, tdbSNP:14768
784+a, gdbSNP:14767
complement(784)-t, cdbSNP:386533629
825+c, tdbSNP:1059137
complement(825)-g, adbSNP:386514488
858+a, cdbSNP:1059253
complement(876)-t, cdbSNP:55837531
complement(879)-t, cdbSNP:55686485
Gene SymbolCST3
Gene SynonymARMD11
Chromosome20
Locus Map20p11.21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000099 Homo sapiens cystatin C (CST3), transcript variant 1, mRNA. In-stock $248.00 $199.00 10
NM_001288614 Homo sapiens cystatin C (CST3), transcript variant 2, mRNA. On-demand $299.00 14
Title Association of a cystatin C gene variant with cystatin C levels, CKD, and risk of incident cardiovascular disease and mortality .
Author O'Seaghdha CM, Tin A, Yang Q, Katz R, Liu Y, Harris T, Astor B, Coresh J, Fox CS, Kao WH and Shlipak MG.
Journal Am. J. Kidney Dis. 63 (1), 16-22 (2014)
Title Circulating levels of beta2-microglobulin and cystatin C are associated with left atrial size: additional link between the kidney and the heart .
Author Liu,Y.S., Wang,X., Jiang,W.D., Huang,Z.W., Wang,Y.M., Hao,L., Xing,J.L., Wang,L., Liu,X.X., Lounsbury,P., Zhang,M. and Lu,Q.H.
Journal Clin. Nephrol. 80 (3), 168-176 (2013)
Title [Clinical significance of detection of cathepsin X and cystatin C in the sera of patients with lung cancer] .
Author Zhang X, Hou Y, Niu Z, Li W, Meng X, Zhang N and Yang S.
Journal Zhongguo Fei Ai Za Zhi 16 (8), 411-416 (2013)
Title The relationship between serum fetuin-A, cystatin-C levels, and microalbuminuria in patients with metabolic syndrome .
Author Huddam B, Azak A, Kocak G, Bayraktar N and Sezer S.
Journal J. Clin. Lab. Anal. 27 (4), 317-322 (2013)
Title Estimation of glomerular filtration rate from serum creatinine and cystatin C in octogenarians and nonagenarians .
Author Lopes MB, Araujo LQ, Passos MT, Nishida SK, Kirsztajn GM, Cendoroglo MS and Sesso RC.
Journal BMC Nephrol 14, 265 (2013)
Title Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis .
Author Abrahamson M, Jonsdottir S, Olafsson I, Jensson O and Grubb A.
Journal Hum. Genet. 89 (4), 377-380 (1992)
Title Interaction of recombinant human cystatin C with the cysteine proteinases papain and actinidin .
Author Lindahl P, Abrahamson M and Bjork I.
Journal Biochem. J. 281 (PT 1), 49-55 (1992)
Title Inactivation of human cystatin C and kininogen by human cathepsin D .
Author Lenarcic B, Krasovec M, Ritonja A, Olafsson I and Turk V.
Journal FEBS Lett. 280 (2), 211-215 (1991)
Title Human cystatin C. role of the N-terminal segment in the inhibition of human cysteine proteinases and in its inactivation by leucocyte elastase .
Author Abrahamson M, Mason RW, Hansson H, Buttle DJ, Grubb A and Ohlsson K.
Journal Biochem. J. 273 (PT 3), 621-626 (1991)
Title Binding of cystatin C to C4: the importance of sense-antisense peptides in their interaction .
Author Ghiso J, Saball E, Leoni J, Rostagno A and Frangione B.
Journal Proc. Natl. Acad. Sci. U.S.A. 87 (4), 1288-1291 (1990)

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