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Aliases for ADSL Gene

Aliases for ADSL Gene

  • Adenylosuccinate Lyase 2 3 4 5
  • Adenylosuccinase 3 4
  • EC 4.3.2.2 4 56
  • AMPS 3 4
  • ASL 3 4
  • EC 4.3.2 56
  • 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 Metabolism of nucleotides and Alanine, aspartate and glutamate metabolism. 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 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 , fRNAdb sequence ontologies 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 2.3 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.2 201 3.4 ZNF652 CC2D1A ZFX CTCF ELF3 MNT NKRF POLR2A MLLT1 ZNF121 ADSL ENSG00000284431 ENSG00000229999 SGSM3 GC22P040360
GH22J040367 Promoter/Enhancer 0.7 EPDnew dbSUPER 611.6 +21.4 21446 0.1 ADSL SGSM3 GC22P040360 ENSG00000284431
GH22J041284 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 +941.8 941821 8.1 ZFX SP1 ELF3 ZKSCAN8 SIX5 ZNF148 NKRF ZNF121 CEBPG POLR2A RANGAP1 EP300 XRCC6 ENSG00000272834 EP300-AS1 L3MBTL2 TEF ENSG00000232754 ENSG00000227413 ENSG00000235513
GH22J040950 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 13.1 +605.2 605201 3.8 ZFX SP1 ELF3 MNT CBFA2T2 ZNF148 NKRF MLLT1 POLR2A ZNF384 RBX1 EP300 XRCC6 EP300-AS1 ADSL DNAJB7 ST13 XPNPEP3 GC22P040976
GH22J040853 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 +509.5 509501 6 SP1 ZFX MNT ZNF148 NKRF POLR2A MLLT1 ZNF121 CEBPG GTF2F1 XPNPEP3 GC22M042936 ST13 XRCC6 EP300-AS1 ADSL EP300 CSDC2 SLC25A17
- 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

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.
    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

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 posLast=415415, isoforms=2276, isoforms=2134, and isoforms=2170
  • 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

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={ECO:0000269 PubMed:16973378, ECO:0000269 PubMed:22812634};.
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={ECO:0000269 PubMed:16973378, ECO:0000269 PubMed:22812634};.
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 IDA,IEA 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

  • Applied Biological Materials (abm): Clones for ADSL - Now 50% OFF >
  • * ADSL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ADSL tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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
mitochondrion 2
nucleus 1
extracellular 0

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 TAS,IDA --
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

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 IC,IEA 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 324

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

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

Unigene Clusters for ADSL Gene

Adenylosuccinate lyase:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for ADSL - Now 50% OFF >
  • * ADSL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ADSL tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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
ECgene alternative splicing isoforms for
ADSL

Expression for ADSL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ADSL Gene:

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 34 35
  • 99.1 (n)
dog
(Canis familiaris)
Mammalia ADSL 34
  • 90.63 (n)
cow
(Bos Taurus)
Mammalia ADSL 34 35
  • 89.81 (n)
-- 35
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Adsl 17 34 35
  • 86.91 (n)
rat
(Rattus norvegicus)
Mammalia Adsl 34
  • 86.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADSL 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADSL 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADSL 34 35
  • 75.53 (n)
lizard
(Anolis carolinensis)
Reptilia ADSL 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adsl 34
  • 73.45 (n)
Str.3693 34
African clawed frog
(Xenopus laevis)
Amphibia adsl-prov 34
zebrafish
(Danio rerio)
Actinopterygii adsl 35 34
  • 69.84 (n)
OneToOne
wufi60b04 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.103 34
fruit fly
(Drosophila melanogaster)
Insecta CG3590 35 36 34
  • 64.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002378 34
  • 63.34 (n)
worm
(Caenorhabditis elegans)
Secernentea R06C7.5 35
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL006C 34
  • 61.54 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE13 34 35 37
  • 59.67 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13189g 34
  • 59.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4901 35
  • 67 (a)
OneToOne
Cin.14641 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade8 34
  • 58.9 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06187 34
  • 57.5 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14641 34
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 from dbSNP and Humsavar for ADSL Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1006262492 uncertain-significance, Adenylosuccinate lyase deficiency 40,361,541(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs11089991 benign, benign-likely-benign, not specified, Adenylosuccinate lyase deficiency, not provided, - 40,354,285(+) A/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs113199851 benign, benign-likely-benign, not specified, Adenylosuccinate lyase deficiency 40,353,069(+) G/A genic_upstream_transcript_variant, intron_variant
rs119450940 pathogenic, Adenylosuccinate lyase deficiency, Adenylosuccinase deficiency (ADSLD) [MIM:103050] 40,365,000(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs119450941 pathogenic, likely-pathogenic, Adenylosuccinate lyase deficiency, not provided, Adenylosuccinase deficiency (ADSLD) [MIM:103050] 40,364,965(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant

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

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

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

Disorder Aliases PubMed IDs
adenylosuccinase deficiency
  • adsld
histidinemia
  • histidine ammonia-lyase deficiency
histidine metabolism disease
  • disturbances of histidine metabolism
argininosuccinic aciduria
  • argininosuccinase deficiency
lesch-nyhan syndrome
  • lns
- 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 58
  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 58
  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 58
  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 58
  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 58

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Sources for ADSL Gene

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