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Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003688 Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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RefSeq Version NM_003688.3, 193788694
Length 8298 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.
Product peripheral plasma membrane protein CASK isoform 1
Comment

Summary: This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

RefSeq NP_003679.2
CDS 47..2812
Misc Feature(1)80..874
Misc Feature(2)80..874
Misc Feature(3)80..868
Misc Feature(4)order(98..112,122..124,161..163,167..169,269..271,
Misc Feature(5)order(98..112,122..124,161..163,167..169,269..271,
Misc Feature(6)order(110..112,338..340,344..346,467..469,473..475,
Misc Feature(7)497..499
Misc Feature(8)509..511
Misc Feature(9)order(527..547,587..598)
Misc Feature(10)923..>1147
Misc Feature(11)959..991
Misc Feature(12)1082..1237
Misc Feature(13)1259..1408
Misc Feature(14)1508..1750
Misc Feature(15)order(1544..1555,1559..1561,1700..1705,1712..1717)
Misc Feature(16)1892..2077
Misc Feature(17)order(1898..1900,1970..1975)
Misc Feature(18)order(1907..1909,1913..1915,1922..1924,1955..1957,
Misc Feature(19)2243..2764
Misc Feature(20)2255..2752
Misc Feature(21)order(2267..2269,2285..2287,2336..2338,2357..2359,
Misc Feature(22)order(2267..2269,2285..2287)
Exon (1)1..105
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (2)106..218
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (3)219..324
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (4)325..402
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (5)403..475
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (6)476..578
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (7)579..754
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (8)755..877
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (9)878..961
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (10)962..1061
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (11)1062..1079
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (12)1080..1201
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (13)1202..1279
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (14)1280..1360
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (15)1361..1549
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (16)1550..1628
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (17)1629..1714
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (18)1715..1783
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (19)1784..1852
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (20)1853..1888
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (21)1889..2085
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (22)2086..2201
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (23)2202..2267
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (24)2268..2348
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (25)2349..2551
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (26)2552..2635
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Exon (27)2636..8298
Gene:CASK
Gene Synonym:CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
Translation MADDDVLFEDVYELCEVIGKGPFSVVRRCINRETGQQFAVKIVDVAKFTSSPGLSTEDLK REASICHMLKHPHIVELLETYSSDGMLYMVFEFMDGADLCFEIVKRADAGFVYSEAVASH YMRQILEALRYCHDNNIIHRDVKPHCVLLASKENSAPVKLGGFGVAIQLGESGLVAGGRV GTPHFMAPEVVKREPYGKPVDVWGCGVILFILLSGCLPFYGTKERLFEGIIKGKYKMNPR QWSHISESAKDLVRRMLMLDPAERITVYEALNHPWLKERDRYAYKIHLPETVEQLRKFNA RRKLKGAVLAAVSSHKFNSFYGDPPEELPDFSEDPTSSGLLAAERAVSQVLDSLEEIHAL TDCSEKDLDFLHSVFQDQHLHTLLDLYDKINTKSSPQIRNPPSDAVQRAKEVLEEISCYP ENNDAKELKRILTQPHFMALLQTHDVVAHEVYSDEALRVTPPPTSPYLNGDSPESANGDM DMENVTRVRLVQFQKNTDEPMGITLKMNELNHCIVARIMHGGMIHRQGTLHVGDEIREIN GISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNS VSDLPSTTQPKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGK LENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNADL VTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENG KNYYFVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVL RTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEIDETIRH LEEAVELVCTAPQWVPVSWVY
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Position Chain Variation Link
complement(41)-dbSNP:
complement(41)-g, adbSNP:200206294
complement(129)-dbSNP:
complement(129)-t, gdbSNP:137852816
complement(319)-dbSNP:
complement(319)-g, adbSNP:201151046
complement(409)-dbSNP:
complement(409)-t, cdbSNP:41431245
complement(436)-g, adbSNP:143067717
complement(445)-g, adbSNP:149041843
complement(630)-dbSNP:
complement(630)-, gdbSNP:67172069
complement(646)-t, cdbSNP:147738759
complement(835)-dbSNP:
complement(835)-t, cdbSNP:113160327
complement(848)-t, cdbSNP:137852817
complement(1123)-dbSNP:
complement(1123)-t, cdbSNP:145641295
complement(1171)-g, adbSNP:141790702
complement(1232)-dbSNP:
complement(1232)-t, cdbSNP:137852820
complement(1315)-dbSNP:
complement(1315)-g, adbSNP:17315800
complement(1334)-g, adbSNP:149798861
complement(1335)-t, cdbSNP:139731261
complement(1358)-t, gdbSNP:150618425
complement(1457)-dbSNP:
complement(1457)-t, cdbSNP:201435578
complement(1467)-t, gdbSNP:144185999
complement(1482)-g, adbSNP:1141273
complement(1522)-t, cdbSNP:199737893
complement(1555)-dbSNP:
complement(1555)-t, gdbSNP:139491124
complement(1761)-dbSNP:
complement(1761)-t, cdbSNP:146282743
complement(1764)-g, adbSNP:141840001
complement(1774)-t, cdbSNP:56199880
complement(1831)-dbSNP:
complement(1831)-t, gdbSNP:148258628
complement(1840)-g, adbSNP:143991107
complement(1961)-dbSNP:
complement(1961)-t, cdbSNP:137852815
complement(1968)-t, cdbSNP:76106850
complement(1986)-t, cdbSNP:113560066
complement(2044)-g, adbSNP:113567434
complement(2069)-t, cdbSNP:1141274
complement(2150)-dbSNP:
complement(2150)-t, cdbSNP:149486598
complement(2175)-g, adbSNP:137852818
complement(2201)-c, adbSNP:12842195
complement(2203)-dbSNP:
complement(2203)-g, adbSNP:199730401
complement(2245)-c, adbSNP:199765605
complement(2328)-dbSNP:
complement(2328)-t, cdbSNP:137964936
complement(2370)-dbSNP:
complement(2370)-g, adbSNP:1141275
complement(2374)-g, adbSNP:55642200
complement(2411)-t, cdbSNP:146936770
complement(2473)-t, cdbSNP:141158465
complement(2502)-t, cdbSNP:138646715
complement(2513)-c, adbSNP:192044507
complement(2757)-t, gdbSNP:192186529
complement(2767)-g, adbSNP:147125272
complement(2786)-t, cdbSNP:137852819
complement(3342)-g, adbSNP:188484697
complement(3542)-g, cdbSNP:140657031
complement(3658..3659)-, tdbSNP:71735406
complement(4396)-g, adbSNP:184249905
complement(4621)-t, cdbSNP:41310603
complement(4632)-g, adbSNP:192576790
complement(4689)-g, adbSNP:187703004
complement(4749)-t, adbSNP:184049666
complement(4815)-g, cdbSNP:193144081
complement(4929)-t, cdbSNP:150270650
complement(5131)-t, cdbSNP:41310657
complement(5178)-g, adbSNP:41310645
complement(5234)-t, gdbSNP:41309743
complement(5261)-g, cdbSNP:41298460
complement(5263)-t, cdbSNP:187800971
complement(5459..5460)-, gcadbSNP:71863788
complement(5462)-t, cdbSNP:182727366
complement(5476)-t, cdbSNP:147899054
complement(5707)-t, gdbSNP:41310597
complement(5805)-g, adbSNP:73470557
complement(6005)-t, gdbSNP:190590653
complement(6289)-t, cdbSNP:143986200
complement(6291)-c, adbSNP:185335561
complement(6369..6370)-, adbSNP:72086546
complement(6484)-t, cdbSNP:5917432
complement(6501)-g, cdbSNP:182653355
complement(6564)-c, adbSNP:190946012
complement(6636)-t, cdbSNP:186139866
complement(6662)-g, cdbSNP:41312112
complement(6665)-g, cdbSNP:182354197
complement(7289)-t, cdbSNP:55749198
complement(7356)-t, cdbSNP:5918193
complement(7580)-g, adbSNP:190219889
complement(7595)-g, cdbSNP:186443661
complement(7682)-t, cdbSNP:141511149
complement(7714)-c, adbSNP:181506008
complement(7789)-t, cdbSNP:189124477
complement(7962)-t, cdbSNP:5918192
complement(8057)-g, adbSNP:145967324
complement(8088)-t, cdbSNP:3203642
complement(8106)-t, cdbSNP:10126166
Gene SymbolCASK
Gene SynonymCAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8
ChromosomeX
Locus MapXp11.4
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001126054 Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 2, mRNA. In-stock $809.00 $760.00 15
NM_001126055 Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 3, mRNA. On-demand $899.00 20
NM_003688 Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA. On-demand $899.00 20
Title CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia .
Author Saitsu,H., Kato,M., Osaka,H., Moriyama,N., Horita,H., Nishiyama,K., Yoneda,Y., Kondo,Y., Tsurusaki,Y., Doi,H., Miyake,N., Hayasaka,K. and Matsumoto,N.
Journal Epilepsia 53 (8), 1441-1449 (2012)
Title CASK (LIN2) interacts with Cx43 in wounded skin and their coexpression affects cell migration .
Author Marquez-Rosado,L., Singh,D., Rincon-Arano,H., Solan,J.L. and Lampe,P.D.
Journal J. Cell. Sci. 125 (PT 3), 695-702 (2012)
Title Spectrum of pontocerebellar hypoplasia in 13 girls and boys with .
Author Burglen,L., Chantot-Bastaraud,S., Garel,C., Milh,M., Touraine,R., Zanni,G., Petit,F., Afenjar,A., Goizet,C., Barresi,S., Coussement,A., Ioos,C., Lazaro,L., Joriot,S., Desguerre,I., Lacombe,D., des Portes,V., Bertini,E., Siffroi,J.P., de Villemeur,T.B. and Rodriguez,D.
Journal Orphanet J Rare Dis 7, 18 (2012)
Title Mapping and expression analysis of the human CASK gene .
Author Stevenson,D., Laverty,H.G., Wenwieser,S., Douglas,M. and Wilson,J.B.
Journal Mamm. Genome 11 (10), 934-937 (2000)
Title The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy .
Author Dimitratos,S.D., Stathakis,D.G., Nelson,C.A., Woods,D.F. and Bryant,P.J.
Journal Genomics 51 (2), 308-309 (1998)
Title Direct interaction of CASK/LIN-2 and syndecan heparan sulfate proteoglycan and their overlapping distribution in neuronal synapses .
Author Hsueh,Y.P., Yang,F.C., Kharazia,V., Naisbitt,S., Cohen,A.R., Weinberg,R.J. and Sheng,M.
Journal J. Cell Biol. 142 (1), 139-151 (1998)
Title Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells .
Author Cohen,A.R., Woods,D.F., Marfatia,S.M., Walther,Z., Chishti,A.H. and Anderson,J.M.
Journal J. Cell Biol. 142 (1), 129-138 (1998)
Title Crystal structure of the hCASK PDZ domain reveals the structural basis of class II PDZ domain target recognition .
Author Daniels,D.L., Cohen,A.R., Anderson,J.M. and Brunger,A.T.
Journal Nat. Struct. Biol. 5 (4), 317-325 (1998)
Title cDNAs with long CAG trinucleotide repeats from human brain .
Author Margolis,R.L., Abraham,M.R., Gatchell,S.B., Li,S.H., Kidwai,A.S., Breschel,T.S., Stine,O.C., Callahan,C., McInnis,M.G. and Ross,C.A.
Journal Hum. Genet. 100 (1), 114-122 (1997)
Title CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins .
Author Hata,Y., Butz,S. and Sudhof,T.C.
Journal J. Neurosci. 16 (8), 2488-2494 (1996)


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