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


RefSeq Accession Definition Services Price Order
NM_000026 Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA. ORF Sequence $421.95
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RefSeq Version NM_000026.2, 183227686
Length 1565 bp
Structure linear
Update Date 17-APR-2013
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
37+dbSNP:
37+c, tdbSNP:201625622
39+a, tdbSNP:183190870
49+g, tdbSNP:200713871
64+c, tdbSNP:143083947
75+c, gdbSNP:140064577
81+c, gdbSNP:143916630
86+g, tdbSNP:146873132
92+c, gdbSNP:8192454
151+a, gdbSNP:5757921
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
401+c, tdbSNP:147017931
422+dbSNP:
422+a, gdbSNP:138203195
499+dbSNP:
499+a, tdbSNP:11089991
510+a, gdbSNP:147194356
524+a, gdbSNP:139543370
539+c, tdbSNP:149276957
541+a, gdbSNP:8192457
628+a, gdbSNP:28941471
651+a, gdbSNP:144477353
675+g, tdbSNP:148411623
708+c, gdbSNP:199761158
733+dbSNP:
733+c, tdbSNP:119450945
794+dbSNP:
794+a, tdbSNP:143977255
795+a, gdbSNP:119450944
833+g, tdbSNP:78915065
867+dbSNP:
867+c, tdbSNP:181252862
893+g, tdbSNP:2735668
929+dbSNP:
929+c, tdbSNP:146890981
939+c, tdbSNP:8192461
953+c, tdbSNP:145469983
954+a, gdbSNP:34396910
1012+c, tdbSNP:202064195
1062+g, tdbSNP:79075278
1112+dbSNP:
1112+a, gdbSNP:151095874
1119+a, gdbSNP:75953451
1127+a, gdbSNP:11703124
1147+c, tdbSNP:141026919
1171+a, gdbSNP:192303222
1174+a, gdbSNP:150228971
1321+a, gdbSNP:145750778
1323+g, tdbSNP:119450943
1336+a, gdbSNP:119450941
1350+a, gdbSNP:200814886
1367+g, tdbSNP:61755965
1371+c, tdbSNP:119450940
1409+c, tdbSNP:200300396
1559+a, tdbSNP:180726920
Gene SymbolADSL
Gene SynonymAMPS; ASASE; ASL
Chromosome22
Locus Map22q13.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000026 Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA. Full Length $453.85
ORF Sequence $421.95
NM_001123378 Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 2, mRNA. Full Length $402.52
ORF Sequence $370.62
Title Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation .
Author Ray,S.P., Deaton,M.K., Capodagli,G.C., Calkins,L.A., Sawle,L., Ghosh,K., Patterson,D. and Pegan,S.D.
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,C.T., Jungbluth,H., Pohl,K.R., Siddiqui,A., Marinaki,A.M., Mundy,H. and Champion,M.P.
Journal Pediatr. Neurol. 43 (5), 351-354 (2010)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
Journal PLoS ONE 5 (9), E12862 (2010)
Title A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation .
Author Estrada,K., Krawczak,M., Schreiber,S., van Duijn,K., Stolk,L., van Meurs,J.B., Liu,F., Penninx,B.W., Smit,J.H., Vogelzangs,N., Hottenga,J.J., Willemsen,G., de Geus,E.J., Lorentzon,M., von Eller-Eberstein,H., Lips,P., Schoor,N., Pop,V., de Keijzer,J., Hofman,A., Aulchenko,Y.S., Oostra,B.A., Ohlsson,C., Boomsma,D.I., Uitterlinden,A.G., van Duijn,C.M., Rivadeneira,F. and Kayser,M.
Journal Hum. Mol. Genet. 18 (18), 3516-3524 (2009)
Title Argininosuccinate synthetase overexpression in vascular smooth muscle cells potentiates immunostimulant-induced NO production .
Author Xie,L. and Gross,S.S.
Journal J. Biol. Chem. 272 (26), 16624-16630 (1997)
Title Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase .
Author Stone,R.L., Zalkin,H. and Dixon,J.E.
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,E.A., Demczuk,S., Delattre,O., Thomas,G. and Rouleau,G.A.
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,R.L., Aimi,J., Barshop,B.A., Jaeken,J., Van den Berghe,G., Zalkin,H. and Dixon,J.E.
Journal Nat. Genet. 1 (1), 59-63 (1992)
Title De novo purine nucleotide biosynthesis .
Author Zalkin,H. and Dixon,J.E.
Journal Prog. Nucleic Acid Res. Mol. Biol. 42, 259-287 (1992)

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