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Aliases for ADSL Gene

Aliases for ADSL Gene

  • Adenylosuccinate Lyase 2 3 5
  • 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

  • The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for ADSL Gene

ADSL (Adenylosuccinate Lyase) is a Protein Coding gene. Diseases associated with ADSL include adenylosuccinase deficiency and immunodeficiency due to purine nucleoside phosphorylase deficiency. 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. An important paralog of this gene is ENSG00000279624.

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

Promoters for ADSL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADSL on UCSC Golden Path with GeneCards custom track

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

Genes around ADSL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADSL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:0070626 (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity IEA,IBA --
genes like me logo Genes that share ontologies with ADSL: view
genes like me logo Genes that share phenotypes with ADSL: view

Human Phenotype Ontology for ADSL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADSL Gene

MGI Knock Outs for ADSL:
  • Adsl tm1b(KOMP)Wtsi

Animal Model Products

miRNA for ADSL Gene

miRTarBase miRNAs that target ADSL

No data available for 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 5
mitochondrion 3
nucleus 3
extracellular 2
plasma membrane 2
chloroplast 1
vacuole 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ADSL Gene

Pathways & Interactions for ADSL Gene

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

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:0006144 purine nucleobase metabolic process TAS --
GO:0006164 purine nucleotide biosynthetic process IC 10888601
GO:0006189 de novo IMP biosynthetic process IEA --
GO:0008152 metabolic process IEA --
GO:0009152 purine ribonucleotide biosynthetic process IEA --
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
AICAR Experimental Pharma AMPK activator 0
SB-649868 Experimental Pharma Antagonist 0
Adenylsuccinic acid Experimental Pharma 0

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

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

Transcripts for ADSL Gene

Unigene Clusters for ADSL Gene

Adenylosuccinate lyase:
Representative Sequences:

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
chimpanzee
(Pan troglodytes)
Mammalia ADSL 35
  • 99.1 (n)
  • 98.55 (a)
ADSL 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 77 (a)
OneToMany
ADSL 36
  • 93 (a)
OneToMany
ADSL 35
  • 89.81 (n)
  • 94.63 (a)
dog
(Canis familiaris)
Mammalia ADSL 35
  • 90.63 (n)
  • 93.6 (a)
mouse
(Mus musculus)
Mammalia Adsl 16
Adsl 36
  • 94 (a)
OneToOne
Adsl 35
  • 86.91 (n)
  • 94.01 (a)
oppossum
(Monodelphis domestica)
Mammalia ADSL 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADSL 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adsl 35
  • 86.23 (n)
  • 93.18 (a)
chicken
(Gallus gallus)
Aves ADSL 36
  • 82 (a)
OneToOne
ADSL 35
  • 75.53 (n)
  • 84.53 (a)
lizard
(Anolis carolinensis)
Reptilia ADSL 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia adsl-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia adsl 35
  • 73.45 (n)
  • 83.69 (a)
Str.3693 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.103 35
zebrafish
(Danio rerio)
Actinopterygii adsl 36
  • 76 (a)
OneToOne
adsl 35
  • 69.84 (n)
  • 77.33 (a)
wufi60b04 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002378 35
  • 63.34 (n)
  • 68.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3590 37
  • 67 (a)
CG3590 35
  • 64.67 (n)
  • 67.88 (a)
CG3590 36
  • 66 (a)
OneToOne
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)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE13 35
  • 59.67 (n)
  • 64.67 (a)
ADE13 36
  • 63 (a)
OneToOne
ADE13 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13189g 35
  • 59.41 (n)
  • 65.95 (a)
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 intestinalis)
Ascidiacea Cin.14641 35
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

Paralogs for ADSL Gene

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

Variants for ADSL Gene

Sequence variations from dbSNP and Humsavar for ADSL Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_000680 Adenylosuccinase deficiency (ADSLD)
VAR_007972 Adenylosuccinase deficiency (ADSLD)
VAR_007973 Adenylosuccinase deficiency (ADSLD)
rs28941471 Adenylosuccinase deficiency (ADSLD) 40,358,950(+) TGTCC(A/G)AGATG nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_007975 Adenylosuccinase deficiency (ADSLD)

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: 30.8% 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

(21) 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
immunodeficiency due to purine nucleoside phosphorylase deficiency
  • purine nucleoside phosphorylase deficiency
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
histidinemia
  • histidinuria
erythematosquamous dermatosis
  • erythematosquamous dermatosis nos
- elite association - COSMIC cancer census association via MalaCards
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 3 4 23 67
  2. Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. (PMID: 19405474) Ariyananda Lde Z. … Colman R.F. (Biochemistry 2009) 3 23
  3. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. (PMID: 18524658) Jurecka A. … Pronicka E. (Mol. Genet. Metab. 2008) 3 23
  4. Expression, purification, and characterization of stable, recombinant human adenylosuccinate lyase. (PMID: 16973378) Lee P. … Colman R.F. (Protein Expr. Purif. 2007) 3 23
  5. Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. (PMID: 17188615) Mouchegh K. … Rossi R. (J. Pediatr. 2007) 3 23

Products for ADSL Gene

Sources for ADSL Gene

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