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 aden... See more...

Aliases for ADSL Gene

Aliases for ADSL Gene

  • Adenylosuccinate Lyase 2 3 4 5
  • Adenylosuccinase 3 4
  • EC 4.3.2.2 4 52
  • AMPS 3 4
  • ASL 3 4
  • EC 4.3.2 52
  • ASASE 3
  • ASase 4

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 Histidinemia. Among its related pathways are ATP/ITP metabolism and Metabolism of nucleotides. Gene Ontology (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 ASL.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for ADSL Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADSL Gene

Genomics for ADSL Gene

GeneHancer (GH) Regulatory Elements for ADSL Gene

Promoters and enhancers for ADSL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J040345 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.4 401 3.8 ZBTB40 ZNF217 EP300 CTCF SIN3A MYC USF1 POLR2G PHF8 ZFX ADSL ENSG00000284431 ENSG00000229999 SGSM3 NONHSAG033983.2
GH22J040367 Promoter/Enhancer 0.5 EPDnew dbSUPER 511.6 +21.4 21446 0.1 ADSL NONHSAG033984.2 SGSM3 ENSG00000284431
GH22J040950 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 13 +605.4 605401 3.8 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G USF1 SP1 NONHSAG034000.2 RBX1 lnc-DNAJB7-1 EP300 ADSL XPNPEP3 ST13 lnc-RBX1-2 L13304-025 L13715-020
GH22J040042 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 -302.1 -302060 4.3 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G USF1 SP1 PHF8 ENSG00000261202 TNRC6B ADSL ENSG00000230769 piR-47251 FAM83F
GH22J040634 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 +289.8 289827 4.4 ZBTB40 EP300 ZSCAN5C SIN3A NRF1 TCF12 POLR2G SP1 PHF8 JUND MRTFA lnc-MCHR1-6 XRCC6 EP300 PHF5A L3MBTL2 ADSL SLC25A17 EP300-AS1 ENSG00000230769
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADSL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADSL

Top Transcription factor binding sites by QIAGEN in the ADSL gene promoter:
  • c-Myb
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • IRF-7A
  • Nkx2-5
  • Olf-1

Genomic Locations for ADSL Gene

Genomic Locations for ADSL Gene
chr22:40,346,500-40,390,463
(GRCh38/hg38)
Size:
43,964 bases
Orientation:
Plus strand
chr22:40,742,504-40,786,467
(GRCh37/hg19)
Size:
43,964 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.
    Miscellaneous:
    • [Isoform 2]: Lacks enzymatic activity.
    SequenceCaution:
    • Sequence=AAC60603.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA46697.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

Selected DME Specific Peptides for ADSL Gene

P30566:
  • QPAQLTTVGKRCCLWIQDLCMDLQNL
  • TLQNISEGLVVYPKVI
  • TASVQWFERTLDDS
  • IIHLGATSCYVGDNTDLI
  • RGVKGTTGTQASFL
  • QIGSSAMPYK
  • SYRSPLA
  • CSLARHL
  • YKRNPMR
  • HCCPKAA
  • TWRQLWLWLAEAEQTLGLPITDEQIQEMKSNL
  • LLDPSSFTGRA
  • TDIRLLANLKE
  • THFQPAQ
  • RFLEEEV
  • ELPFMATENIIMAM
  • EGGDNDLIERI
  • LLLPKLARVISRLADFA

Post-translational modifications for ADSL Gene

  • Ubiquitination at Lys134, Lys170, Lys276, and Lys415
  • Modification sites at PhosphoSitePlus

Domains & Families for ADSL Gene

Gene Families for ADSL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ADSL Gene

Suggested Antigen Peptide Sequences for ADSL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59852, highly similar to Adenylosuccinate lyase (EC 4.3.2.2) (B4DEP1_HUMAN)
  • cDNA FLJ53891, highly similar to Adenylosuccinate lyase (EC 4.3.2.2) (B4DUM2_HUMAN)
  • Adenylosuccinate lyase (B7ZB92_HUMAN)
  • Adenylosuccinate lyase (B7ZB93_HUMAN)
  • Adenylosuccinase (PUR8_HUMAN)

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

Function for ADSL Gene

Molecular function for ADSL Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N(6)-(1,2-dicarboxyethyl)-AMP = AMP + fumarate; Xref=Rhea:RHEA:16853, ChEBI:CHEBI:29806, ChEBI:CHEBI:57567, ChEBI:CHEBI:456215; EC=4.3.2.2; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2S)-2-[5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamido]succinate = 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide + fumarate; Xref=Rhea:RHEA:23920, ChEBI:CHEBI:29806, ChEBI:CHEBI:58443, ChEBI:CHEBI:58475; EC=4.3.2.2; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
The enzyme reaction kinetics indicate cooperativity between subunits.
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

Enzyme Numbers (IUBMB) for ADSL Gene

Phenotypes From GWAS Catalog for ADSL Gene

Gene Ontology (GO) - Molecular Function for ADSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004018 N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity IEA,IDA 16973378
GO:0016829 lyase activity IEA --
GO:0070626 (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity IBA,IEA 21873635
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 Adsl<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for ADSL

CRISPR Products

Clone Products

  • Addgene plasmids for ADSL

No data available for Transcription Factor Targets and HOMER Transcription for ADSL Gene

Localization for ADSL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADSL gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 3
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA,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

Pathways by source for ADSL Gene

1 GeneGo (Thomson Reuters) pathway for ADSL Gene
  • ATP/ITP metabolism

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:0006163 purine nucleotide metabolic process IEA --
GO:0006164 purine nucleotide biosynthetic process IEA,IC 10888601
GO:0006167 AMP biosynthetic process IDA 11428554
GO:0006189 'de novo' IMP 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

(17) Drugs for ADSL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
AICAR Experimental, Investigational Pharma AMPK activator 0
Adenylsuccinic acid Experimental Pharma 0
Maleic acid Experimental, Investigational Pharma 336

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SAICAR
  • (2S)-2-[5-amino-1-(5-phospho-beta-D-Ribosyl)imidazole-4-carboxamido]succinic acid
  • (S)-2-[5-amino-1-(5-phospho-D-Ribosyl)imidazole-4-carboxamido]succinate
  • 1-(5'-Phosphoribosyl)-4-(N-succinocarboxamide)-5-aminoimidazole
  • 1-(5'-Phosphoribosyl)-5-amino-4-(N-succinocarboxamide)-imidazole
  • 5'-Phosphoribosyl-4-(N-succinocarboxamide)-5-aminoimidazole
3031-95-6
5-Aminoimidazole-4-carboxamide
  • 4-amino-5-Carbamoylimidazole
  • 4-amino-5-Imidazolecarboxamide
  • 5(4)-amino-4(5)-Imidazolecarboxamide
  • 5-amino-4-Imidazolecarboxyamide
  • 4-Aminoimidazole-5-carboxamide
360-97-4
Argininosuccinic acid
  • 2-(Nomega-L-arginino)succinate
  • L-Argininosuccinate
  • L-Argininosuccinic acid
  • L-Arginosuccinic acid
  • 2-(Nomega-L-arginino)succinic acid
2387-71-5
N(6)-(1,2-dicarboxyethyl)AMP
  • N6-(1,2-Dicarboxyethyl)AMP
  • Adenylosuccinate
  • Adenylosuccinic acid
genes like me logo Genes that share compounds with ADSL: view

Transcripts for ADSL Gene

mRNA/cDNA for ADSL Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ADSL

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

No ASD Table

Relevant External Links for ADSL Gene

GeneLoc Exon Structure for
ADSL

Expression for ADSL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ADSL Gene



Protein tissue co-expression partners for ADSL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADSL

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.

Evidence on tissue expression from TISSUES for ADSL Gene

  • Nervous system(4.8)
  • Muscle(4.6)
  • Liver(4.5)
  • Eye(4.4)
  • Skin(3.3)
  • Lung(2.9)
  • Blood(2.8)
  • Intestine(2.7)
  • Kidney(2.5)
  • Spleen(2.4)
  • Heart(2.1)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADSL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • outer ear
  • skull
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ADSL: view

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 31 30
  • 99.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADSL 30
  • 90.63 (n)
cow
(Bos Taurus)
Mammalia ADSL 31 30
  • 89.81 (n)
OneToMany
-- 31
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Adsl 17 31 30
  • 86.91 (n)
rat
(Rattus norvegicus)
Mammalia Adsl 30
  • 86.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADSL 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADSL 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADSL 31 30
  • 75.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADSL 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adsl 30
  • 73.45 (n)
Str.3693 30
African clawed frog
(Xenopus laevis)
Amphibia adsl-prov 30
zebrafish
(Danio rerio)
Actinopterygii adsl 31 30
  • 69.84 (n)
OneToOne
wufi60b04 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.103 30
fruit fly
(Drosophila melanogaster)
Insecta CG3590 31 32 30
  • 64.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002378 30
  • 63.34 (n)
worm
(Caenorhabditis elegans)
Secernentea R06C7.5 31
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL006C 30
  • 61.54 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE13 33 31 30
  • 59.67 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13189g 30
  • 59.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4901 31
  • 67 (a)
OneToOne
Cin.14641 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade8 30
  • 58.9 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06187 30
  • 57.5 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14641 30
Species where no ortholog for ADSL was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ADSL: view image

Paralogs for ADSL Gene

Paralogs for ADSL Gene

Pseudogenes.org Pseudogenes for ADSL Gene

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

Variants for ADSL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADSL Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
642209 Uncertain Significance: Adenylosuccinate lyase deficiency 40,364,919(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
643182 Uncertain Significance: Adenylosuccinate lyase deficiency 40,366,480(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
643949 Uncertain Significance: Adenylosuccinate lyase deficiency 40,359,030(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
644120 Uncertain Significance: Adenylosuccinate lyase deficiency 40,360,479(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
644664 Uncertain Significance: Adenylosuccinate lyase deficiency 40,349,861(+) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for ADSL Gene

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)

Additional Variant Information for ADSL Gene

Human Gene Mutation Database (HGMD)
ADSL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADSL

SNP Genotyping and Copy Number Assay Products

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

Disorders for ADSL Gene

MalaCards: The human disease database

(29) MalaCards diseases for ADSL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adenylosuccinase deficiency
  • adsld
histidinemia
  • histidine ammonia-lyase deficiency
argininosuccinic aciduria
  • argininosuccinase deficiency
lesch-nyhan syndrome
  • lns
epilepsy
  • epilepsy syndrome
- 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:10958654, ECO:0000269 PubMed:12368987, ECO:0000269 PubMed:12833398, ECO:0000269 PubMed:1302001, ECO:0000269 PubMed:19405474, ECO:0000269 PubMed:22812634, 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

Additional Disease Information for ADSL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EA … Rouleau GA (Cytogenetics and cell genetics 1993) 2 3 4 23 54
  2. Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. (PMID: 19405474) Ariyananda Lde Z … Colman RF (Biochemistry 2009) 3 4 23 54
  3. Expression, purification, and characterization of stable, recombinant human adenylosuccinate lyase. (PMID: 16973378) Lee P … Colman RF (Protein expression and purification 2007) 3 4 23 54
  4. Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. (PMID: 12833398) Edery P … Tardieu M (American journal of medical genetics. Part A 2003) 3 4 23 54
  5. Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. (PMID: 12368987) Castro M … Ugarte M (Neuropediatrics 2002) 3 4 23 54

Products for ADSL Gene

  • Addgene plasmids for ADSL

Sources for ADSL Gene