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Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000026 Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_000026.2, 183227686
Length 1565 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.
Product adenylosuccinate lyase isoform a
Comment

Summary: Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


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

RefSeq NP_000017.1
CDS 60..1514
Misc Feature(1)63..65
Misc Feature(2)63..65
Misc Feature(3)108..1439
Misc Feature(4)108..1415
Misc Feature(5)117..122
Misc Feature(6)order(150..155,318..320,345..347,372..377,381..386,
Misc Feature(7)312..320
Misc Feature(8)order(315..317,378..380,534..536,780..782,942..944,
Misc Feature(9)390..395
Misc Feature(10)498..500
Misc Feature(11)942..944
Exon (1)1..212
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (2)213..416
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (3)417..461
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (4)462..541
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (5)542..713
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (6)714..760
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (7)761..851
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (8)852..921
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (9)922..1069
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (10)1070..1160
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (11)1161..1250
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (12)1251..1427
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Exon (13)1428..1565
Gene:ADSL
Gene Synonym:AMPS; ASASE; ASL
Translation MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDE QIQEMKSNLENIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTD LIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLWIQDLC MDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMR SERCCSLARHLMTLVMDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISE GLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVKQEGGD NDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKA ELCL
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Position Chain Variation Link
23+dbSNP:
23+c, gdbSNP:372357778
37+c, tdbSNP:201625622
39+a, tdbSNP:183190870
49+g, tdbSNP:200713871
64+c, tdbSNP:143083947
75+c, gdbSNP:140064577
79+a, gdbSNP:377248090
81+c, gdbSNP:143916630
86+g, tdbSNP:146873132
91+a, tdbSNP:368501116
92+c, gdbSNP:8192454
100+a, gdbSNP:371824098
151+a, gdbSNP:5757921
173+a, gdbSNP:377588571
183+c, tdbSNP:2228415
264+dbSNP:
264+c, gdbSNP:200169254
275+c, tdbSNP:145786986
285+a, cdbSNP:145306334
322+c, tdbSNP:149165656
329+c, tdbSNP:143275316
332+c, tdbSNP:148303726
341+a, gdbSNP:141408072
357+c, gdbSNP:119450942
364+c, gdbSNP:369139561
399+c, tdbSNP:374259530
401+c, tdbSNP:147017931
422+dbSNP:
422+a, gdbSNP:138203195
443+c, tdbSNP:376894611
467+dbSNP:
467+c, tdbSNP:368166273
499+a, tdbSNP:11089991
510+a, gdbSNP:147194356
524+a, gdbSNP:139543370
539+c, tdbSNP:149276957
541+a, gdbSNP:8192457
621+a, cdbSNP:371892194
628+a, gdbSNP:28941471
645+c, tdbSNP:376533106
675+g, tdbSNP:148411623
679+c, gdbSNP:369400468
690+c, tdbSNP:373777376
698+g, tdbSNP:376751756
708+c, gdbSNP:199761158
733+dbSNP:
733+c, tdbSNP:119450945
793+dbSNP:
793+a, gdbSNP:374047157
794+a, tdbSNP:143977255
795+a, gdbSNP:119450944
833+g, tdbSNP:78915065
859+dbSNP:
859+a, cdbSNP:367719924
860+c, tdbSNP:369069575
867+c, tdbSNP:181252862
893+g, tdbSNP:2735668
901+c, gdbSNP:371529148
915+c, gdbSNP:376912453
929+dbSNP:
929+c, tdbSNP:146890981
939+c, tdbSNP:8192461
953+c, tdbSNP:145469983
954+a, gdbSNP:34396910
957+a, cdbSNP:369617680
966+c, tdbSNP:373458753
984+c, tdbSNP:376357524
1012+c, tdbSNP:202064195
1044+c, tdbSNP:370221257
1062+g, tdbSNP:79075278
1112+dbSNP:
1112+a, gdbSNP:151095874
1119+a, gdbSNP:75953451
1127+a, gdbSNP:11703124
1146+a, gdbSNP:375375168
1148+c, tdbSNP:368373129
1149+a, gdbSNP:370851726
1167+dbSNP:
1167+a, gdbSNP:267606256
1171+a, gdbSNP:192303222
1174+a, gdbSNP:150228971
1179+c, tdbSNP:376533026
1197+a, gdbSNP:368160421
1311+c, gdbSNP:372650859
1321+a, gdbSNP:145750778
1323+g, tdbSNP:119450943
1336+a, gdbSNP:119450941
1345+c, tdbSNP:372051078
1350+a, gdbSNP:200814886
1367+g, tdbSNP:61755965
1371+c, tdbSNP:119450940
1405+c, tdbSNP:368990043
1408+c, tdbSNP:372895468
1409+c, tdbSNP:200300396
1411+a, gdbSNP:377120302
1485+dbSNP:
1485+a, gdbSNP:377758918
1507+a, gdbSNP:371242331
1559+a, tdbSNP:180726920
Gene SymbolADSL
Gene SynonymAMPS; ASASE; ASL
Chromosome22
Locus Map22q13.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001123378 Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 2, mRNA. On-demand $699.00 18
NM_000026 Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA. In-stock $509.00 $460.00 12
Title Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism .
Author Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Trigg SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
Journal Nat Commun 5, 3650 (2014)
Title Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations .
Author Ray SP, Duval N, Wilkinson TG 2nd, Shaheen SE, Ghosh K and Patterson D.
Journal Biochim. Biophys. Acta 1834 (8), 1545-1553 (2013)
Title Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation .
Author Ray SP, Deaton MK, Capodagli GC, Calkins LA, Sawle L, Ghosh K, Patterson D and Pegan SD.
Journal Biochemistry 51 (33), 6701-6713 (2012)
Title Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency .
Author Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M and Kmoch S.
Journal Hum. Mol. Genet. 21 (7), 1534-1543 (2012)
Title Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases .
Author Lundy CT, Jungbluth H, Pohl KR, Siddiqui A, Marinaki AM, Mundy H and Champion MP.
Journal Pediatr. Neurol. 43 (5), 351-354 (2010)
Title Argininosuccinate synthetase overexpression in vascular smooth muscle cells potentiates immunostimulant-induced NO production .
Author Xie L and Gross SS.
Journal J. Biol. Chem. 272 (26), 16624-16630 (1997)
Title Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase .
Author Stone RL, Zalkin H and Dixon JE.
Journal J. Biol. Chem. 268 (26), 19710-19716 (1993)
Title Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2 .
Author Fon EA, Demczuk S, Delattre O, Thomas G and Rouleau GA.
Journal Cytogenet. Cell Genet. 64 (3-4), 201-203 (1993)
Title A mutation in adenylosuccinate lyase associated with mental retardation and autistic features .
Author Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H and Dixon JE.
Journal Nat. Genet. 1 (1), 59-63 (1992)
Title De novo purine nucleotide biosynthesis .
Author Zalkin H and Dixon JE.
Journal Prog. Nucleic Acid Res. Mol. Biol. 42, 259-287 (1992)

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