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Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_138793 Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA. ORF Sequence $349.74
Peptide Services
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RefSeq Version NM_138793.3, 229577437
Length 3545 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.
Product soluble calcium-activated nucleotidase 1
Comment

Summary: This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010].


Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

RefSeq NP_620148.1
CDS 496..1701
Misc Feature(1)415..417
Misc Feature(2)628..681
Misc Feature(3)628..681
Misc Feature(4)832..1698
Exon (1)1..154
Gene:CANT1
Gene Synonym:DBQD; SCAN-1; SCAN1; SHAPY
Exon (2)155..1126
Gene:CANT1
Gene Synonym:DBQD; SCAN-1; SCAN1; SHAPY
Exon (3)1127..1330
Gene:CANT1
Gene Synonym:DBQD; SCAN-1; SCAN1; SHAPY
Exon (4)1331..3535
Gene:CANT1
Gene Synonym:DBQD; SCAN-1; SCAN1; SHAPY
Translation MPVQLSEHPEWNESMHSLRISVGGLPVLASMTKAADPRFRPRWKVILTFFVGAAILWLLC SHRPAPGRPPTHNAHNWRLGQAPANWYNDTYPLSPPQRTPAGIRYRIAVIADLDTESRAQ EENTWFSYLKKGYLTLSDSGDKVAVEWDKDHGVLESHLAEKGRGMELSDLIVFNGKLYSV DDRTGVVYQIEGSKAVPWVILSDGDGTVEKGFKAEWLAVKDERLYVGGLGKEWTTTTGDV VNENPEWVKVVGYKGSVDHENWVSNYNALRAAAGIQPPGYLIHESACWSDTLQRWFFLPR RASQERYSEKDDERKGANLLLSASPDFGDIAVSHVGAVVPTHGFSSFKFIPNTDDQIIVA LKSEEDSGRVASYIMAFTLDGRFLLPETKIGSVKYEGIEFI
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Position Chain Variation Link
complement(62)-dbSNP:
complement(62)-t, cdbSNP:12949479
complement(205)-dbSNP:
complement(205)-g, adbSNP:143084065
complement(230)-t, adbSNP:181302869
complement(258)-g, adbSNP:149178778
complement(303)-t, cdbSNP:3744171
complement(507)-t, gdbSNP:11546278
complement(551)-t, cdbSNP:144060377
complement(562)-c, adbSNP:139022430
complement(582)-t, cdbSNP:151134512
complement(598)-t, cdbSNP:199950703
complement(654)-g, adbSNP:8077024
complement(674)-t, g, cdbSNP:112979829
complement(689)-g, adbSNP:200811852
complement(693)-g, adbSNP:201935694
complement(740)-g, adbSNP:142062082
complement(753)-t, cdbSNP:199762751
complement(805)-g, adbSNP:200503476
complement(812)-t, cdbSNP:148785781
complement(868)-g, adbSNP:61738470
869+a, gdbSNP:267606702
complement(917)-t, adbSNP:147336056
complement(920)-t, gdbSNP:143987103
complement(928)-c, adbSNP:140112462
complement(954)-g, adbSNP:35290882
complement(972)-t, cdbSNP:149367726
complement(1008)-c, adbSNP:201181440
complement(1051)-t, cdbSNP:199516699
complement(1053)-g, adbSNP:200425171
complement(1104)-g, adbSNP:200199592
complement(1147)-dbSNP:
complement(1147)-c, adbSNP:113155808
complement(1163)-t, cdbSNP:138825464
complement(1166)-g, adbSNP:150181226
complement(1221)-g, adbSNP:141845435
complement(1230)-t, cdbSNP:138754148
complement(1273)-t, cdbSNP:201092090
complement(1296)-g, adbSNP:138199925
1391+dbSNP:
1391+c, tdbSNP:267606700
1393+c, tdbSNP:267606701
1394+a, gdbSNP:267606699
complement(1461)-g, adbSNP:140989921
complement(1462)-t, cdbSNP:9903215
complement(1480)-t, cdbSNP:201945398
complement(1503)-c, adbSNP:201627157
complement(1509)-t, cdbSNP:145472081
complement(1551)-t, cdbSNP:3803781
complement(1558)-t, cdbSNP:145516713
complement(1585)-t, cdbSNP:200161867
complement(1592)-t, cdbSNP:149663607
complement(1618)-t, adbSNP:139486406
complement(1626)-g, adbSNP:147738899
complement(1629)-t, cdbSNP:35324359
complement(1647)-g, cdbSNP:145794847
complement(1667)-t, cdbSNP:34082669
complement(1671)-g, adbSNP:147501831
complement(1710)-t, cdbSNP:190867364
complement(1790)-t, cdbSNP:146866436
complement(1799)-g, adbSNP:142460586
complement(1858)-t, cdbSNP:117904862
complement(2128)-t, adbSNP:185468461
complement(2146)-t, cdbSNP:149131650
complement(2271)-t, cdbSNP:8079368
complement(2287)-g, cdbSNP:201955120
complement(2294)-t, cdbSNP:113992271
complement(2365)-g, adbSNP:79189369
complement(2372)-g, adbSNP:114125762
complement(2397)-c, adbSNP:149991908
complement(2530)-t, cdbSNP:115856545
complement(2548)-t, cdbSNP:11891
complement(2635)-g, adbSNP:180869519
complement(2665)-t, cdbSNP:75126416
complement(2692)-g, adbSNP:189700956
complement(2699)-c, adbSNP:78037898
complement(2733)-c, adbSNP:139951975
complement(2757)-g, adbSNP:77565945
complement(2758)-g, cdbSNP:112529550
complement(2794)-g, adbSNP:8078860
complement(2850)-g, adbSNP:114706748
complement(2868)-t, cdbSNP:186436891
complement(2879)-t, gdbSNP:181138576
complement(2933)-t, gdbSNP:35308608
complement(3077)-g, cdbSNP:139673784
complement(3113)-t, cdbSNP:190318927
complement(3141)-g, adbSNP:4861
complement(3177)-t, cdbSNP:73999357
complement(3433)-g, adbSNP:184171534
complement(3438)-t, gdbSNP:1127654
complement(3485)-g, adbSNP:14791
complement(3495)-c, adbSNP:192546263
Gene SymbolCANT1
Gene SynonymDBQD; SCAN-1; SCAN1; SHAPY
Chromosome17
Locus Map17q25.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001159772 Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 2, mRNA. Full Length $1221.15
ORF Sequence $349.74
NM_001159773 Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 3, mRNA. Full Length $1172.50
ORF Sequence $349.74
NM_138793 Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA. Full Length $1240.75
ORF Sequence $349.74
Title Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis .
Author Nizon,M., Huber,C., De Leonardis,F., Merrina,R., Forlino,A., Fradin,M., Tuysuz,B., Abu-Libdeh,B.Y., Alanay,Y., Albrecht,B., Al-Gazali,L., Basaran,S.Y., Clayton-Smith,J., Desir,J., Gill,H., Greally,M.T., Koparir,E., van Maarle,M.C., MacKay,S., Mortier,G., Morton,J., Sillence,D., Vilain,C., Young,I., Zerres,K., Le Merrer,M., Munnich,A., Le Goff,C., Rossi,A. and Cormier-Daire,V.
Journal Hum. Mutat. 33 (8), 1261-1266 (2012)
Title Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene .
Author Laccone,F., Schoner,K., Krabichler,B., Kluge,B., Schwerdtfeger,R., Schulze,B., Zschocke,J. and Rehder,H.
Journal Eur. J. Hum. Genet. 19 (11), 1133-1137 (2011)
Title A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia .
Author Dai,J., Kim,O.H., Cho,T.J., Miyake,N., Song,H.R., Karasugi,T., Sakazume,S., Ikema,M., Matsui,Y., Nagai,T., Matsumoto,N., Ohashi,H., Kamatani,N., Nishimura,G., Furuichi,T., Takahashi,A. and Ikegawa,S.
Journal J. Hum. Genet. 56 (5), 398-400 (2011)
Title The androgen-regulated Calcium-Activated Nucleotidase 1 (CANT1) is commonly overexpressed in prostate cancer and is tumor-biologically relevant in vitro .
Author Gerhardt,J., Steinbrech,C., Buchi,O., Behnke,S., Bohnert,A., Fritzsche,F., Liewen,H., Stenner,F., Wild,P., Hermanns,T., Muntener,M., Dietel,M., Jung,K., Stephan,C. and Kristiansen,G.
Journal Am. J. Pathol. 178 (4), 1847-1860 (2011)
Title Structure and protein design of a human platelet function inhibitor .
Author Dai,J., Liu,J., Deng,Y., Smith,T.M. and Lu,M.
Journal Cell 116 (5), 649-659 (2004)
Title Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways .
Author Matsuda,A., Suzuki,Y., Honda,G., Muramatsu,S., Matsuzaki,O., Nagano,Y., Doi,T., Shimotohno,K., Harada,T., Nishida,E., Hayashi,H. and Sugano,S.
Journal Oncogene 22 (21), 3307-3318 (2003)
Title Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3 .
Author Faivre,L., Le Merrer,M., Al-Gazali,L.I., Ausems,M.G., Bitoun,P., Bacq,D., Maroteaux,P., Munnich,A. and Cormier-Daire,V.
Journal J. Med. Genet. 40 (4), 282-284 (2003)
Title Bacterial expression and characterization of a novel, soluble, calcium-binding, and calcium-activated human nucleotidase .
Author Murphy,D.M., Ivanenkov,V.V. and Kirley,T.L.
Journal Biochemistry 42 (8), 2412-2421 (2003)
Title Cloning, expression, and functional characterization of a Ca(2+)-dependent endoplasmic reticulum nucleoside diphosphatase .
Author Failer,B.U., Braun,N. and Zimmermann,H.
Journal J. Biol. Chem. 277 (40), 36978-36986 (2002)
Title Cloning, expression, and characterization of a soluble calcium-activated nucleotidase, a human enzyme belonging to a new family of extracellular nucleotidases .
Author Smith,T.M., Hicks-Berger,C.A., Kim,S. and Kirley,T.L.
Journal Arch. Biochem. Biophys. 406 (1), 105-115 (2002)

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