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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu41232 Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu41232C Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_001101426.3, 226246625
Length 1356 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.
Product isoprenoid synthase domain-containing protein isoform a
Comment

Summary: This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012].


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


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. The full extent of this transcript is supported by and orthologous data in mouse (NM_178629.5).


##Evidence-Data-START## RNAseq introns :: single sample supports all introns ERS025082, ERS025083 [ECO:0000348] ##Evidence-Data-END##

RefSeq NP_001094896.1
CDS 1..1356
Misc Feature(1)139..819
Misc Feature(2)139..819
Misc Feature(3)order(154..156,160..177,196..198,367..378,385..387,
Misc Feature(4)175..177
Misc Feature(5)196..198
Misc Feature(6)order(475..477,532..534,556..558,562..564,616..633,
Misc Feature(7)613..615
Misc Feature(8)787..789
Exon (1)258..534
Gene:ISPD
Gene Synonym:hCG_1745121; MDDGA7; Nip
Exon (2)535..684
Gene:ISPD
Gene Synonym:hCG_1745121; MDDGA7; Nip
Exon (3)685..789
Gene:ISPD
Gene Synonym:hCG_1745121; MDDGA7; Nip
Exon (4)790..835
Gene:ISPD
Gene Synonym:hCG_1745121; MDDGA7; Nip
Exon (5)836..933
Gene:ISPD
Gene Synonym:hCG_1745121; MDDGA7; Nip
Exon (6)934..1026
Gene:ISPD
Gene Synonym:hCG_1745121; MDDGA7; Nip
Exon (7)1027..1119
Gene:ISPD
Gene Synonym:hCG_1745121; MDDGA7; Nip
Exon (8)1120..1251
Gene:ISPD
Gene Synonym:hCG_1745121; MDDGA7; Nip
Exon (9)1252..5524
Gene:ISPD
Gene Synonym:hCG_1745121; MDDGA7; Nip
Translation MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERM GVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLV EAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAA GAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTEC LQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGH LLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEE SSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQ KLQESLRQGAIIIASLIKERNSGLIGQLLIA
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Position Chain Variation Link
complement(32)-dbSNP:
complement(32)-g, cdbSNP:192925278
complement(55)-t, gdbSNP:7782939
complement(67)-c, adbSNP:187484645
complement(225)-t, cdbSNP:115744030
256+a, tdbSNP:397514548
277..279+dbSNP:
277..279+, attdbSNP:397515398
complement(288)-t, cdbSNP:374684209
290+a, cdbSNP:76510981
complement(320)-c, adbSNP:199691459
complement(332)-t, cdbSNP:373082181
complement(346)-g, adbSNP:61744487
complement(359)-g, adbSNP:201328681
complement(360)-g, adbSNP:183141256
364+c, gdbSNP:387907162
complement(393)-g, adbSNP:373472697
complement(402)-t, cdbSNP:368815582
complement(407)-g, adbSNP:61734789
complement(410)-g, adbSNP:371919730
complement(446)-g, adbSNP:369219851
466+a, gdbSNP:397514547
complement(531)-g, adbSNP:376195897
complement(532)-t, cdbSNP:202108204
complement(534)-t, c, adbSNP:200798632
complement(550)-dbSNP:
complement(550)-g, cdbSNP:370499190
complement(561)-t, cdbSNP:376375569
complement(588)-c, adbSNP:147182946
complement(606)-t, cdbSNP:374488567
complement(613)-g, adbSNP:376411072
complement(626)-g, cdbSNP:374054216
638+g, tdbSNP:397515408
complement(643)-g, adbSNP:370627877
647+a, cdbSNP:387907160
complement(695)-dbSNP:
complement(695)-t, cdbSNP:200114996
713+c, tdbSNP:397515409
complement(726)-t, cdbSNP:61746966
complement(765)-t, cdbSNP:372514498
complement(776)-g, adbSNP:369193825
complement(802)-dbSNP:
complement(802)-g, adbSNP:368593151
complement(808)-g, adbSNP:200334999
complement(828)-g, adbSNP:201334104
832+a, tdbSNP:387907161
complement(840)-dbSNP:
complement(840)-t, cdbSNP:148054819
complement(876)-t, cdbSNP:371300262
complement(888)-t, cdbSNP:367735300
complement(895)-g, cdbSNP:373890080
complement(914)-c, adbSNP:370397489
complement(940)-dbSNP:
complement(940)-t, cdbSNP:376875864
complement(947)-t, gdbSNP:114363936
complement(972)-t, gdbSNP:370052768
complement(985)-t, gdbSNP:202126749
complement(990)-g, cdbSNP:373422736
complement(992)-g, adbSNP:369141466
complement(999)-g, adbSNP:376909665
complement(1010)-t, cdbSNP:369832637
complement(1042)-dbSNP:
complement(1042)-t, adbSNP:199890239
complement(1054)-t, gdbSNP:185594460
complement(1059)-t, cdbSNP:181099904
complement(1122)-dbSNP:
complement(1122)-c, adbSNP:370671327
complement(1161)-t, cdbSNP:368477537
complement(1218)-c, adbSNP:202011820
complement(1220)-g, adbSNP:141625803
complement(1230)-c, adbSNP:377754403
complement(1246)-g, adbSNP:373134516
complement(1264)-dbSNP:
complement(1264)-g, adbSNP:375514450
complement(1354)-t, adbSNP:186882839
complement(1363)-g, cdbSNP:371204159
complement(1374)-g, adbSNP:368961207
complement(1376)-t, cdbSNP:117387535
complement(1390)-g, cdbSNP:16878689
complement(1398)-t, cdbSNP:372087606
complement(1416)-t, cdbSNP:1528137
complement(1436..1437)-, cadbSNP:139003391
complement(1442)-t, cdbSNP:16878685
complement(1468)-c, adbSNP:16878683
complement(1548)-t, cdbSNP:138497063
complement(1607)-g, cdbSNP:181770974
complement(1677)-t, cdbSNP:7788119
complement(1719)-c, adbSNP:71540735
complement(1806)-t, adbSNP:73289965
complement(1821)-g, adbSNP:189639444
complement(1838)-t, cdbSNP:376932373
complement(1877)-t, cdbSNP:143775389
complement(1936)-g, cdbSNP:184772197
complement(1940)-g, adbSNP:191433411
complement(1972)-t, cdbSNP:148945892
complement(2042)-c, adbSNP:145763791
complement(2069)-g, adbSNP:371310013
complement(2083)-g, adbSNP:188117118
complement(2100)-g, adbSNP:183736982
complement(2147)-g, adbSNP:17150159
complement(2210)-t, adbSNP:192614474
complement(2215)-t, cdbSNP:189003265
complement(2296)-t, gdbSNP:62440856
complement(2344)-c, adbSNP:1918859
complement(2399)-g, cdbSNP:149771453
complement(2455)-g, adbSNP:141259768
complement(2476)-t, adbSNP:76250307
complement(2477..2478)-, a, aadbSNP:56034283
complement(2502)-c, adbSNP:142712241
complement(2503)-c, adbSNP:149426049
complement(2504)-t, adbSNP:146329563
complement(2510)-t, adbSNP:367668650
complement(2591)-t, cdbSNP:146512999
complement(2956)-t, cdbSNP:144165672
complement(3016)-g, cdbSNP:7799718
complement(3033)-t, cdbSNP:1528136
complement(3096)-t, cdbSNP:183516471
complement(3204)-g, adbSNP:78791023
complement(3205)-t, cdbSNP:60843615
complement(3211)-g, cdbSNP:111577730
complement(3236)-g, cdbSNP:146233332
complement(3407)-, tdbSNP:71007743
complement(3407)-t, cdbSNP:193057240
complement(3431)-t, cdbSNP:142172620
complement(3436)-g, adbSNP:375039862
complement(3462)-g, adbSNP:11773533
complement(3475)-t, gdbSNP:148625258
complement(3483..3484)-, atdbSNP:371853337
complement(3504)-g, adbSNP:9691136
complement(3505)-t, gdbSNP:28569130
complement(3506)-g, cdbSNP:187998164
complement(3511)-t, gdbSNP:28463725
complement(3523)-t, cdbSNP:28379235
complement(3537)-t, cdbSNP:183114712
complement(3553)-t, cdbSNP:371376395
complement(3574..3575)-, gtacdbSNP:58170479
complement(3579)-t, cdbSNP:370237461
complement(3582..3583)-, gtacdbSNP:150924095
complement(3585..3586)-, tatgdbSNP:200404448
complement(3591)-t, gdbSNP:200738139
complement(3593)-t, cdbSNP:200021535
complement(3632)-g, adbSNP:117664754
complement(3674..3675)-, catadbSNP:56948896
complement(3674..3675)-, catadbSNP:397762434
complement(3674)-t, cdbSNP:375556121
complement(3679..3680)-, tacadbSNP:147773779
complement(3680..3681)-, tacadbSNP:138718602
complement(3681)-g, adbSNP:201774908
complement(3682)-t, cdbSNP:200989147
complement(3684)-t, cdbSNP:199541295
complement(3689)-g, adbSNP:201756228
complement(3692)-t, cdbSNP:190071410
complement(3696..3699)-, atacdbSNP:201131087
complement(3707)-g, adbSNP:114572844
complement(3708)-t, cdbSNP:118008517
complement(3719..3724)-, aatatadbSNP:60753459
complement(3724..3729)-, atataadbSNP:72267760
complement(3724..3725)-, catatatgtgtgtatgcgtacgtatatadbSNP:71007742
complement(3724)-t, c, adbSNP:9691122
complement(3736)-t, cdbSNP:28444529
complement(3736)-t, cdbSNP:111211269
complement(3750..3751)-, atdbSNP:375373473
complement(3760)-t, cdbSNP:191022176
complement(3776)-t, cdbSNP:373329597
complement(3806..3807)-, atdbSNP:372043370
complement(3847)-g, adbSNP:80084340
complement(3853..3854)-, tadbSNP:72031454
complement(3878..3879)-, cdbSNP:35776569
complement(3878)-t, cdbSNP:181802434
complement(3894)-t, cdbSNP:149454482
complement(3911)-t, cdbSNP:111639189
complement(3922)-t, cdbSNP:76015838
complement(3928..3929)-, atdbSNP:367811867
complement(3964)-t, cdbSNP:137941269
complement(3984)-g, adbSNP:190047806
complement(4021)-g, adbSNP:186374336
complement(4117)-g, cdbSNP:375038374
complement(4282)-t, cdbSNP:147319918
4332+g, tdbSNP:144063748
complement(4337)-g, adbSNP:113434115
complement(4356)-g, cdbSNP:369063942
complement(4381)-g, adbSNP:150443736
complement(4382)-t, cdbSNP:141548108
complement(4431)-g, adbSNP:181392858
complement(4443)-t, cdbSNP:148322529
complement(4495)-t, cdbSNP:56232398
complement(4521)-g, adbSNP:183928442
complement(4530)-t, cdbSNP:191300186
complement(4547)-t, g, adbSNP:190481410
complement(4584)-t, gdbSNP:369734871
complement(4610)-g, cdbSNP:185506130
complement(4631..4638)-, ttttttttdbSNP:71549971
complement(4639)-t, cdbSNP:370712733
4718+a, gdbSNP:143308024
complement(4730)-g, adbSNP:141198656
complement(4772)-g, adbSNP:146539605
complement(4831)-g, adbSNP:80341455
complement(4926)-, tdbSNP:374740493
complement(4958)-g, cdbSNP:145647689
complement(5029)-t, adbSNP:73289958
complement(5149)-g, adbSNP:376700985
complement(5228)-t, cdbSNP:140374329
complement(5228)-t, cdbSNP:386464972
complement(5356)-t, cdbSNP:192924503
complement(5379)-t, gdbSNP:12539174
complement(5386)-t, cdbSNP:145625852
complement(5448)-t, cdbSNP:188823385
complement(5488)-g, cdbSNP:369915144
complement(5515)-g, adbSNP:184324561
Gene SymbolISPD
Gene SynonymhCG_1745121; MDDGA7; Nip
Chromosome7
Locus Map7p21.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001101417 Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_001101426 Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA. On-demand $219.00 7-9
XM_006715770 PREDICTED: Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant X1, mRNA. On-demand $219.00 7-9
Title Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene .
Author Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, Bruno C, Santorelli FM and Ricci E.
Journal Neurology 80 (10), 963-965 (2013)
Title ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies .
Author Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nurnberg P, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T and Muntoni F.
Journal Brain 136 (PT 1), 269-281 (2013)
Title Impact of four loci on serum tamsulosin hydrochloride concentration .
Author Takata R, Matsuda K, Sugimura J, Obara W, Fujioka T, Okihara K, Takaha N, Miki T, Ashida S, Inoue K, Tanikawa C, Shuin T, Sasaki S, Kojima Y, Kohri K, Kubo M, Yamaguchi M, Ohnishi Y and Nakamura Y.
Journal J. Hum. Genet. 58 (1), 21-26 (2013)
Title Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly .
Author Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerriere A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonniere M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attie-Bitach T, Encha-Razavi F and Seta N.
Journal Am. J. Hum. Genet. 91 (6), 1135-1143 (2012)
Title Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan .
Author Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delree P, Willemsen MA, Ramadza DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY and van Bokhoven H.
Journal Nat. Genet. 44 (5), 581-585 (2012)
Title ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome .
Author Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA and Campbell KP.
Journal Nat. Genet. 44 (5), 575-580 (2012)
Title Congenital Muscular Dystrophy Overview .
Author Sparks,S., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E., Hoffman,E.P. and Pegoraro,E.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Endotoxin in vivo impairs endothelium-dependent relaxation of canine arteries in vitro .
Author Wylam ME, Samsel RW, Umans JG, Mitchell RW, Leff AR and Schumacker PT.
Journal Am. Rev. Respir. Dis. 142 (6 PT 1), 1263-1267 (1990)

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