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Aliases & Descriptions for ADSL
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases AMPS 2 , 3 ASASE 2 ASL 2 , 3 ASase 3 Adenylosuccinase 3 EC 4.3.2.2 3 OTTHUMP00000028724 2 adenylosuccinase 2
Descriptions adenylosuccinate lyase 2
Search outside databases for aliases for ADSL genePrevious GC identifers: GC22P037357 GC22P038985
Summaries for ADSL (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ADSL : Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosinemonophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: theremoval of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to giveaminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to giveAMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and, in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcriptvariants encoding different isoforms have been found for this gene. [provided by RefSeq]
Genomic Location for ADSL
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ADSL gene Entrez Gene cytogenetic band: 22q13.1|22q13.2 Ensembl cytogenetic band: 22q13.1 HGNC cytogenetic band: 22q13.1 ADSL Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure
GeneLoc location for GC22P039067:
(about GC identifiers )
Start:
39,072,479 bp from pter
End:
39,092,698 bp from pter
Size:
20,220 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000022.9 NT_011520.11 Proteins for ADSL
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566 (See
protein sequence )Recommended Name: Adenylosuccinate lyase Size : 484 amino acids; 54889 Da
PDB structure from and Proteopedia : 2J91 (3D)
 2VD6 (3D)
 
Secondary accessions : O75495 Q5TI34Alternative splicing : 2 isoforms : P30566-1 P30566-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_000017.1 NP_001116850.1 ENSEMBL proteins: ENSP00000341429 ENSP00000216194 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: ADSL 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for ADSL: Assays for ADSL:
Protein
Domains/ Families for ADSL(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P30566 ProtoNet protein and cluster: P30566
1 Blocks protein family : IPB000362 Fumarate lyase UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566 Similarity : Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily
Gene Function for ADSL
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_000026 Applied Biosystems Silencer ® siRNAs for ADSL Sigma-Aldrich siRNA and siRNA Panels for ADSL Sigma-Aldrich shRNA for ADSL Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000026                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000026                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000026  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000026 UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566 Catalytic activity : N(6)-(1,2-dicarboxyethyl)AMP = fumarate + AMPCatalytic activity : (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate =fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide Enzyme Number (IUBMB): EC 4.3.2.2
Genatlas biochemistry entry for ADSL :adenylosuccinate lyase,twelfth step of the de novo purine (adenylate) biosynthesis component of abifunctional enzyme also catalyzing the eight step of the de novo purine biosynthesis,i.e,theconversion of SAICAR to AICAR (amino-imidazole carboxamide ribonucleotide),also involved in thepurine nucleotide cycle 1 MGI phenotypic allele for Adsl (no phenotypes)2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for ADSL
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for ADSL (Your Favorite Gene powered by Ingenuity) UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566 Pathway : Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2Pathway : Purine metabolism; IMP biosynthesis via de novo pathway;5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide fromN(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide: step 5/5
5/53 Interacting proteins for ADSL (ENSP00000216194 3 ) via UniProtKB, MINT, and/or STRING (see all 53
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for ADSL (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ADSL 10/18 Novoseek chemical compound relationships for ADSL gene (see all 18
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
adenylosuccinate
98.80
215
10673438 (8), 12392914 (7), 10926519 (6), 16973378 (6) (see all 74 )
succinyladenosine
98.33
30
10958654 (4), 15902552 (2), 8412003 (1), 9211192 (1) (see all 12 )
saicar
95.88
15
1872474 (3), 10958654 (2), 18830228 (2), 15902552 (2) (see all 9 )
samp
87.53
11
1872474 (3), 10958654 (2), 9211192 (1), 18524658 (1) (see all 6 )
purine
79.81
32
9211192 (1), 16839792 (1), 8845770 (1), 10727185 (1) (see all 24 )
prpp
69.79
3
15566465 (1), 11098885 (1)
inosine monophosphate
34.74
7
8054268 (1), 15566465 (1)
uric acid
31.93
1
9989253 (1)
xanthine
30.63
3
16613999 (1), 8581129 (1), 8976090 (1)
ribose
27.25
3
9989253 (2), 9598054 (1)
About this table
Transcripts for ADSL(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_000026 Sigma-Aldrich siRNA and siRNA Panels for ADSL Sigma-Aldrich shRNA for ADSL Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000026 NM_001123378
REFSEQ mRNAs for ADSL gene (2 alternative transcripts): NM_000026.2 NM_001123378.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000026 NM_001123378
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000026                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000026                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000026  
Additional cDNA sequence: AF067853.1 AF067854.1 AK225042.1 AK291091.1 AK293722.1 AK298187.1 AK300705.1 AK308662.1 BC000253.1 BC018881.2 CR456368.1 CR590245.1 CR594266.1 CR594779.1 CR599886.1 CR603727.1 CR609122.1 CR610943.1 CR613803.1 CR614973.1 CR616687.1 CR616911.1 CR619354.1 CR622395.1 CR623741.1 S60710.1 X65867.1
24/33 DOTS entries (see all 33
): DT.316819 DT.95245346 DT.101957367 DT.120649220 DT.97815882 DT.100885986 DT.100885990 DT.95245369 DT.92446407 DT.120648885 DT.120648915 DT.100671417 DT.97779515 DT.97859584 DT.100649322 DT.100726546 DT.100885984 DT.100885992 DT.120649229 DT.75146142 DT.95245347 DT.100645360 DT.100885985 DT.100885989
24/285 AceView cDNA sequences (see all 285
):BE795635 BX379813 BM983919 AF067853 AW328441 AI192994 CR616911 BM671915 BU856860 AU077053 BM762783 BQ071361 BC018881 BQ924128 BF026311 AI990690 BC000253 AU102545 BG122629 BI758091 CR619354 AI923786 BX357288 BM844835
highest scoring ESTs for ADSL :AF067853 AA065231 AA494551 AA604018 AA612967 AF067854 AI129788 AI141884 AI143889 AI192994
Unigene Cluster for ADSL: Adenylosuccinate lyase Hs.75527 [show with all ESTs ] Unigene Representative Sequence: CR599886 GeneLoc Exon Structure 5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ADSL (see all 9
) ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 SP1 :           -     -                 -                 SP2 :           -     -                 -             -     SP3 :           -     -                 -                 SP4 :           -   -   -   -                               SP5 :           -     -   -                              
About this scheme ECgene alternative splicing isoforms for ADSL 2 Ensembl transcripts including schematic representations : ENST00000342312
ENST00000216194
Expression for ADSL
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ADSL expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ADSL 1 / 2 / 3
5 probe-sets matching ADSL gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AGAAAATCAGSOURCE GeneReport for Unigene cluster: Hs.75527 Expression variation in blood from EXPOLDB for ADSL
UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566 Tissue specificity : Ubiquitously expressed. Both isoforms are produced by all tissues
Orthologs for ADSL
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ADSL gene from 5/18 species (see all 18
)
About this table Species with no ortholog for ADSL ENSEMBL Gene Tree for ADSL Paralogs for ADSL (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for ADSL (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ADSL (up to first 250kb)
Disorders & Mutations for ADSL
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 608222 disorders : 103050 UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566
Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency)[MIM:103050]. ADSL deficiency is an autosomal recessive disorded characterized by the accumulationin the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) andsuccinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied byepilepsy or autistic features, or both, although some patients may be less profoundly retarded.Occasionally, growth retardation and muscular wasting are also present
10/18 Novoseek disease relationships for ADSL gene (see all 18
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
autistic
81.34
15
1302001 (2), 8845770 (1), 11428554 (1), 2111814 (1) (see all 12 )
argininosuccinate lyase deficiency
80.84
12
9165520 (4), 7474894 (2), 15471876 (2)
histidinemia
78.83
2
10360421 (1), 11098885 (1)
severe mental retardation
55.13
1
11428554 (1)
encephalopathy neonatal
54.51
1
17188615 (1)
mental retardation
52.55
7
1302001 (2), 18830228 (2), 10673438 (1), 12833398 (1)
lesch-nyhan syndrome
51.38
1
8976090 (1)
epilepsy
47.79
7
9553952 (2), 9266401 (1), 11042421 (1), 18830228 (1) (see all 6 )
developmental delay
47.66
1
15471876 (1)
homocystinuria
43.66
2
1761630 (1), 17061190 (1)
About this table Genatlas disease: ADSL mental retardation,severe,with autistic features and succinylpurinemia Human Gene Mutation Database : ADSL
Medical News for ADSL (Possibly Related Articles in
Doctor's Guide )
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Publications for ADSL (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/125 PubMed articles for ADSL gene (see all 125
): Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2. (PubMed id 8404037) 1, 2, 3, 4 Fon E.A.... Rouleau G.A. (1993) Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. (PubMed id 10888601) 1, 3, 4 Kmoch S....Sebesta I. (2000) Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. (PubMed id 10090474) 1, 3, 4 Marie S....van den Berghe G. (1999) Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. (PubMed id 12833398) 1, 3, 4 Edery P....Tardieu M. (2003) Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. (PubMed id 10958654) 1, 3, 4 Race V.... Van den Berghe G. (2000) A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. (PubMed id 1302001) 1, 3, 4 Stone R.L.... Dixon J.E. (1992) Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. (PubMed id 12368987) 1, 3, 4 Castro M.... Ugarte M. (2002) Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. (PubMed id 9545543) 1, 3, 4 Verginelli D.... Gross M. (1998) Adenylosuccinase deficiency presenting with epilepsy in early infancy. (PubMed id 9266401) 1, 3, 4 Maaswinkel-Mooij P.D.... Poorthuis B.J.H.M. (1997) A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802) 3, 4 Collins J.E.... Dunham I. (2004)
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Genome Databases showing ADSL
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ADSL
(According to HUGE )
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Specialized Databases showing ADSL (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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ADSLdb http://www.icp.ucl.ac.be/adsldb/ GeneReviews http://www.genetests.org/query?gene=ADSL
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-- Services for ADSL (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for ADSL:
Search Tocris compounds for ADSL
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009