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Aliases for ADSL Gene

Aliases for ADSL Gene

  • Adenylosuccinate Lyase 2 3
  • Adenylosuccinase 3 4
  • EC 4.3.2.2 4 63
  • ASASE 3 4
  • AMPS 3 4
  • ASL 3 4
  • EC 4.3.2 63

External Ids for ADSL Gene

Previous GeneCards Identifiers for ADSL Gene

  • GC22P037357
  • GC22P038985
  • GC22P039067
  • GC22P040742
  • GC22P023705

Summaries for ADSL Gene

Entrez Gene Summary for ADSL Gene

  • 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]

GeneCards Summary for ADSL Gene

ADSL (Adenylosuccinate Lyase) is a Protein Coding gene. Diseases associated with ADSL include adenylosuccinase deficiency and erythematosquamous dermatosis. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity and (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity.

UniProtKB/Swiss-Prot for ADSL Gene

  • Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADSL Gene

Genomics for ADSL Gene

Regulatory Elements for ADSL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ADSL Gene

Chromosome:
22
Start:
40,346,500 bp from pter
End:
40,387,408 bp from pter
Size:
40,909 bases
Orientation:
Plus strand

Genomic View for ADSL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADSL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADSL Gene

Proteins for ADSL Gene

  • Protein details for ADSL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30566-PUR8_HUMAN
    Recommended name:
    Adenylosuccinate lyase
    Protein Accession:
    P30566
    Secondary Accessions:
    • B0QY76
    • O75495
    • Q5TI34

    Protein attributes for ADSL Gene

    Size:
    484 amino acids
    Molecular mass:
    54889 Da
    Quaternary structure:
    • Homotetramer. Residues from neighboring subunits contribute catalytic and substrate-binding residues to each active site.
    SequenceCaution:
    • Sequence=AAC60603.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA46697.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADSL Gene

    Alternative splice isoforms for ADSL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADSL Gene

Proteomics data for ADSL Gene at MOPED

Post-translational modifications for ADSL Gene

  • Ubiquitination at Lys 134, Lys 170, Lys 276, and Lys 415
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ADSL Gene

Graphical View of Domain Structure for InterPro Entry

P30566

UniProtKB/Swiss-Prot:

PUR8_HUMAN :
  • Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily.
Family:
  • Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily.
genes like me logo Genes that share domains with ADSL: view

No data available for Gene Families for ADSL Gene

Function for ADSL Gene

Molecular function for ADSL Gene

GENATLAS Biochemistry:
adenylosuccinate lyase,twelfth step of the de novo purine (adenylate) biosynthesis component of a bifunctional enzyme also catalyzing the eight step of the de novo purine biosynthesis,i.e,the conversion of SAICAR to AICAR (amino-imidazole carboxamide ribonucleotide),also involved in the purine nucleotide cycle
UniProtKB/Swiss-Prot CatalyticActivity:
N(6)-(1,2-dicarboxyethyl)AMP = fumarate + AMP
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
UniProtKB/Swiss-Prot EnzymeRegulation:
The enzyme reaction kinetics indicate cooperativity between subunits.
UniProtKB/Swiss-Prot Function:
Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate

Enzyme Numbers (IUBMB) for ADSL Gene

Gene Ontology (GO) - Molecular Function for ADSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004018 N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity TAS --
GO:0016829 lyase activity --
GO:0070626 (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity IBA --
genes like me logo Genes that share ontologies with ADSL: view

Phenotypes for ADSL Gene

GenomeRNAi human phenotypes for ADSL:
genes like me logo Genes that share phenotypes with ADSL: view

Animal Model Products

miRNA for ADSL Gene

miRTarBase miRNAs that target ADSL

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADSL

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ADSL Gene

Localization for ADSL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADSL Gene COMPARTMENTS Subcellular localization image for ADSL gene
Compartment Confidence
cytosol 4
extracellular 2
mitochondrion 2
plasma membrane 2
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ADSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ADSL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ADSL Gene

Pathways & Interactions for ADSL Gene

genes like me logo Genes that share pathways with ADSL: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P30566-PUR8_HUMAN

  • Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2
  • Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate: step 2/2

Gene Ontology (GO) - Biological Process for ADSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006144 purine nucleobase metabolic process TAS --
GO:0006163 purine nucleotide metabolic process --
GO:0006164 purine nucleotide biosynthetic process IC 10888601
GO:0006167 AMP biosynthetic process IDA 11428554
genes like me logo Genes that share ontologies with ADSL: view

No data available for SIGNOR curated interactions for ADSL Gene

Drugs & Compounds for ADSL Gene

(16) Drugs for ADSL Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenine Approved Nutra 0
Ornithine Approved Nutra Full agonist, Agonist 31
AICAR Experimental Pharma AMPK activator 0
SB-649868 Experimental Pharma Antagonist 0

(16) Additional Compounds for ADSL Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SAICAR
  • (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate
  • (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinic acid
  • (S)-2-(5-amino-1-(5-phospho-delta-ribosyl)imidazole-4-carboxamido)succinate
  • (S)-2-(5-amino-1-(5-phospho-delta-ribosyl)imidazole-4-carboxamido)succinic acid
  • (S)-2-[5-Amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido]succinate
3031-95-6
5-Aminoimidazole-4-carboxamide
  • 4-Amino-5-Imidazolecarboxamide
  • 4-Aminoimidazole-5-carboxamide
  • 4-Carbamoyl-5-aminoimidazole
  • 4-Carboxamido-5-aminoimidazole
  • 5-Amino-1H-Imidazole-4-carboxamide
360-97-4
Argininosuccinic acid
  • 2-(N(Omega)-L-arginine)succinate
  • 2-(N(Omega)-L-arginine)succinic acid
  • 2-(N(Omega)-L-arginino)succinate
  • 2-(N(Omega)-L-arginino)succinic acid
  • 2-(Nw-L-arginino)butanedioate
2387-71-5
N(6)-(1,2-dicarboxyethyl)AMP
5-methylthioadenosine
genes like me logo Genes that share compounds with ADSL: view

Transcripts for ADSL Gene

Unigene Clusters for ADSL Gene

Adenylosuccinate lyase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADSL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADSL Gene

No ASD Table

Relevant External Links for ADSL Gene

GeneLoc Exon Structure for
ADSL
ECgene alternative splicing isoforms for
ADSL

Expression for ADSL Gene

mRNA expression in normal human tissues for ADSL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADSL Gene

This gene is overexpressed in Muscle - Skeletal (x6.7).

Protein differential expression in normal tissues from HIPED for ADSL Gene

This gene is overexpressed in Lymph node (9.9) and Tonsil (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ADSL Gene



SOURCE GeneReport for Unigene cluster for ADSL Gene Hs.75527

mRNA Expression by UniProt/SwissProt for ADSL Gene

P30566-PUR8_HUMAN
Tissue specificity: Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1
genes like me logo Genes that share expression patterns with ADSL: view

Protein tissue co-expression partners for ADSL Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ADSL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ADSL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ADSL 35
  • 89.81 (n)
  • 94.63 (a)
-- 36
  • 77 (a)
OneToMany
ADSL 36
  • 93 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ADSL 35
  • 90.63 (n)
  • 93.6 (a)
mouse
(Mus musculus)
Mammalia Adsl 35
  • 86.91 (n)
  • 94.01 (a)
Adsl 16
Adsl 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ADSL 35
  • 99.1 (n)
  • 98.55 (a)
ADSL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adsl 35
  • 86.23 (n)
  • 93.18 (a)
oppossum
(Monodelphis domestica)
Mammalia ADSL 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADSL 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADSL 35
  • 75.53 (n)
  • 84.53 (a)
ADSL 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADSL 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adsl 35
  • 73.45 (n)
  • 83.69 (a)
Str.3693 35
African clawed frog
(Xenopus laevis)
Amphibia adsl-prov 35
zebrafish
(Danio rerio)
Actinopterygii adsl 35
  • 69.84 (n)
  • 77.33 (a)
wufi60b04 35
adsl 36
  • 76 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.103 35
fruit fly
(Drosophila melanogaster)
Insecta CG3590 37
  • 67 (a)
CG3590 35
  • 64.67 (n)
  • 67.88 (a)
CG3590 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002378 35
  • 63.34 (n)
  • 68.11 (a)
worm
(Caenorhabditis elegans)
Secernentea R06C7.5 36
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL006C 35
  • 61.54 (n)
  • 66.02 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13189g 35
  • 59.41 (n)
  • 65.95 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE13 35
  • 59.67 (n)
  • 64.67 (a)
ADE13 36
  • 63 (a)
OneToOne
ADE13 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14641 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06187 35
  • 57.5 (n)
  • 55.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade8 35
  • 58.9 (n)
  • 62.82 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4901 36
  • 67 (a)
OneToOne
Species with no ortholog for ADSL:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADSL Gene

ENSEMBL:
Gene Tree for ADSL (if available)
TreeFam:
Gene Tree for ADSL (if available)

Paralogs for ADSL Gene

No data available for Paralogs for ADSL Gene

Variants for ADSL Gene

Sequence variations from dbSNP and Humsavar for ADSL Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs742139 -- 40,345,968(+) GGTAT(C/G)TTCAT upstream-variant-2KB
rs751367 -- 40,345,516(+) GAACC(C/T)TTTCC upstream-variant-2KB
rs909204 -- 40,346,165(+) ggagg(G/T)tctcc upstream-variant-2KB
rs909205 -- 40,346,180(+) gttgc(C/G)caggc upstream-variant-2KB
rs909669 -- 40,346,413(+) CTCCG(C/T)AGCCG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ADSL Gene

Variant ID Type Subtype PubMed ID
nsv834202 CNV Loss 17160897

Variation tolerance for ADSL Gene

Residual Variation Intolerance Score: 30.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADSL Gene

HapMap Linkage Disequilibrium report
ADSL
Human Gene Mutation Database (HGMD)
ADSL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADSL Gene

Disorders for ADSL Gene

MalaCards: The human disease database

(17) MalaCards diseases for ADSL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
adenylosuccinase deficiency
  • adenylosuccinate lyase deficiency
erythematosquamous dermatosis
  • erythematosquamous dermatosis nos
histidinemia
  • histidinuria
aica-ribosiduria
  • 5-amino-4-imidazole carboxamide ribosiduria
arts syndrome
  • lethal ataxia with deafness and optic atrophy
- elite association
Search ADSL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PUR8_HUMAN
  • Adenylosuccinase deficiency (ADSLD) [MIM:103050]: An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. {ECO:0000269 PubMed:10090474, ECO:0000269 PubMed:10888601, ECO:0000269 PubMed:12368987, ECO:0000269 PubMed:12833398, ECO:0000269 PubMed:1302001, ECO:0000269 PubMed:9266401, ECO:0000269 PubMed:9545543}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ADSL Gene

mental retardation,severe,with autistic features and succinylpurinemia

Relevant External Links for ADSL

Genetic Association Database (GAD)
ADSL
Human Genome Epidemiology (HuGE) Navigator
ADSL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADSL
genes like me logo Genes that share disorders with ADSL: view

Publications for ADSL Gene

  1. Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2. (PMID: 8404037) Fon E.A. … Rouleau G.A. (Cytogenet. Cell Genet. 1993) 2 23 67
  2. Pediatric neurological syndromes and inborn errors of purine metabolism. (PMID: 20005278) Camici M. … Tozzi M.G. (Neurochem. Int. 2010) 23 67
  3. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. (PMID: 20127976) Zikanova M. … Kmoch S. (Hum. Mutat. 2010) 23 67
  4. Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. (PMID: 20049533) Sempere A. … Campistol J. (J. Inherit. Metab. Dis. 2010) 23 67
  5. Misleading behavioural phenotype with adenylosuccinate lyase deficiency. (PMID: 18830228) Gitiaux C. … Bahi-Buisson N. (Eur. J. Hum. Genet. 2009) 23 67

Products for ADSL Gene

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