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Aliases for ADSS Gene

Aliases for ADSS Gene

  • Adenylosuccinate Synthase 2 3 5
  • Adenylosuccinate Synthetase, Acidic Isozyme 3 4
  • Adenylosuccinate Synthetase, Liver Isozyme 3 4
  • L-Type Adenylosuccinate Synthetase 3 4
  • IMP--Aspartate Ligase 2 3 4
  • AMPSase 2 3 4
  • AdSS 2 3 4
  • Adenylosuccinate Synthetase (Ade(-)H-Complementing) 3
  • Adenylosuccinate Synthetase Isozyme 2 3
  • EC 6.3.4.4 4
  • ADSS 2 3
  • ADSS2 4
  • ADEH 3

External Ids for ADSS Gene

Previous GeneCards Identifiers for ADSS Gene

  • GC01M242457
  • GC01M239817
  • GC01M240773
  • GC01M241518
  • GC01M240897
  • GC01M242638
  • GC01M244571
  • GC01M214954

Summaries for ADSS Gene

Entrez Gene Summary for ADSS Gene

  • This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]

GeneCards Summary for ADSS Gene

ADSS (Adenylosuccinate Synthase) is a Protein Coding gene. Among its related pathways are Pyrimidine metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include GTP binding and phosphate ion binding. An important paralog of this gene is ADSSL1.

UniProtKB/Swiss-Prot for ADSS Gene

  • Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.

Additional gene information for ADSS Gene

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

Genomics for ADSS Gene

GeneHancer (GH) Regulatory Elements for ADSS Gene

Promoters and enhancers for ADSS 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
GH01J244449 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.8 798 3.6 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CATSPERE ADSS HNRNPU DESI2 LOC101928068 ENSG00000236031 COX20 LOC105373264
GH01J244832 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 29.4 -383.5 -383464 6.4 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 COX20 DESI2 HNRNPU ADSS ENSG00000240963 ENSG00000238224 LOC101928068 AKT3 RN7SKP55 ENSG00000237759
GH01J244860 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 21.4 -411.4 -411436 6.7 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF548 HNRNPU ENSG00000273175 DESI2 COX20 ADSS LOC101928068 CATSPERE ENSG00000240963 ENSG00000238224 RN7SKP55
GH01J244967 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.3 -518.1 -518132 4.6 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 LOC101928068 EFCAB2 KIF26B HNRNPU COX20 ADSS ENSG00000238224 ENSG00000240963 RN7SKP55 DESI2
GH01J244346 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22 +103.1 103074 5 HDGF ARNT FEZF1 ZNF2 IRF4 YY1 ZNF766 ZNF213 E2F8 FOS ADSS ENSG00000236031 DESI2 HNRNPU C1orf100 LOC105373262
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADSS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADSS gene promoter:

Genomic Locations for ADSS Gene

Genomic Locations for ADSS Gene
chr1:244,408,492-244,452,134
(GRCh38/hg38)
Size:
43,643 bases
Orientation:
Minus strand
chr1:244,571,794-244,615,436
(GRCh37/hg19)

Genomic View for ADSS Gene

Genes around ADSS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADSS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADSS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADSS Gene

Proteins for ADSS Gene

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

    Protein Symbol:
    P30520-PURA2_HUMAN
    Recommended name:
    Adenylosuccinate synthetase isozyme 2
    Protein Accession:
    P30520
    Secondary Accessions:
    • B1AQM5
    • Q96EG7

    Protein attributes for ADSS Gene

    Size:
    456 amino acids
    Molecular mass:
    50097 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ADSS Gene

neXtProt entry for ADSS Gene

Post-translational modifications for ADSS Gene

  • Ubiquitination at Lys441, posLast=419419, posLast=403403, and Lys173
  • Modification sites at PhosphoSitePlus

Other Protein References for ADSS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ADSS Gene

Domains & Families for ADSS Gene

Gene Families for ADSS Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ADSS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P30520

UniProtKB/Swiss-Prot:

PURA2_HUMAN :
  • Belongs to the adenylosuccinate synthetase family.
Family:
  • Belongs to the adenylosuccinate synthetase family.
genes like me logo Genes that share domains with ADSS: view

Function for ADSS Gene

Molecular function for ADSS Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + IMP + L-aspartate = GDP + phosphate + N(6)-(1,2-dicarboxyethyl)-AMP.
GENATLAS Biochemistry:
adenylosuccinate synthase,purine nucleotide cycle

Enzyme Numbers (IUBMB) for ADSS Gene

Phenotypes From GWAS Catalog for ADSS Gene

Gene Ontology (GO) - Molecular Function for ADSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004019 adenylosuccinate synthase activity EXP,NAS 1592113
GO:0005515 protein binding IPI 23455924
GO:0005525 GTP binding NAS 1592113
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with ADSS: view
genes like me logo Genes that share phenotypes with ADSS: view

Animal Model Products

Clone Products

  • Addgene plasmids for ADSS

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADSS Gene

Localization for ADSS Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADSS Gene

Cytoplasm. Note=Partially associated with particulate fractions.

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 ADSS gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
mitochondrion 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with ADSS: view

Pathways & Interactions for ADSS Gene

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

UniProtKB/Swiss-Prot P30520-PURA2_HUMAN

  • Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2.

Gene Ontology (GO) - Biological Process for ADSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process NAS 15786719
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006167 AMP biosynthetic process NAS 1592113
GO:0006531 aspartate metabolic process IEA --
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
genes like me logo Genes that share ontologies with ADSS: view

No data available for SIGNOR curated interactions for ADSS Gene

Drugs & Compounds for ADSS Gene

(12) Drugs for ADSS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Magnesium Approved Nutra 0
Guanosine diphosphate Experimental Pharma Target 0
hadacidin Experimental Pharma Target, inhibitor 0

(9) Additional Compounds for ADSS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N(6)-(1,2-dicarboxyethyl)AMP
  • N6-(1,2-Dicarboxyethyl)AMP
  • Adenylosuccinate
  • Adenylosuccinic acid
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with ADSS: view

Transcripts for ADSS Gene

mRNA/cDNA for ADSS Gene

(221) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ADSS Gene

Adenylosuccinate synthase:
Representative Sequences:

Clone Products

  • Addgene plasmids for ADSS

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16
SP1: - - - - - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6:

Relevant External Links for ADSS Gene

GeneLoc Exon Structure for
ADSS
ECgene alternative splicing isoforms for
ADSS

Expression for ADSS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADSS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADSS Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.4) and Lavage (8.3).

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



Protein tissue co-expression partners for ADSS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADSS Gene:

ADSS

SOURCE GeneReport for Unigene cluster for ADSS Gene:

Hs.498313

Evidence on tissue expression from TISSUES for ADSS Gene

  • Eye(4.2)
  • Liver(4.2)
  • Nervous system(4)
  • Lung(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with ADSS: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADSS Gene

Orthologs for ADSS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADSS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADSS 34 33
  • 99.85 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADSS 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADSS 34 33
  • 94.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADSS 34 33
  • 93.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adss 16 34 33
  • 91.96 (n)
oppossum
(Monodelphis domestica)
Mammalia ADSS 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adss 33
  • 90.79 (n)
chicken
(Gallus gallus)
Aves ADSS 34 33
  • 81.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADSS 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adss 33
  • 78.15 (n)
MGC75901 33
African clawed frog
(Xenopus laevis)
Amphibia adss-prov 33
zebrafish
(Danio rerio)
Actinopterygii adss 34 33 33
  • 73 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:LD32788 35
  • 62 (a)
CG17273 34
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C37H5.6 34
  • 48 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE12 34
  • 53 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.1873 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8281 34
  • 59 (a)
OneToMany
Species where no ortholog for ADSS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 ADSS Gene

ENSEMBL:
Gene Tree for ADSS (if available)
TreeFam:
Gene Tree for ADSS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADSS: view image

Paralogs for ADSS Gene

Paralogs for ADSS Gene

(1) SIMAP similar genes for ADSS Gene using alignment to 2 proteins:

  • PURA2_HUMAN
  • B4E1L0_HUMAN

Pseudogenes.org Pseudogenes for ADSS Gene

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

Variants for ADSS Gene

Sequence variations from dbSNP and Humsavar for ADSS Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000098370 -- 244,425,072(-) C/T intron_variant
rs1000107698 -- 244,444,721(-) T/C intron_variant
rs1000193196 -- 244,413,343(-) C/T intron_variant
rs1000381553 -- 244,410,477(-) T/C intron_variant
rs1000396051 -- 244,448,520(-) G/A/C intron_variant

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

Variant ID Type Subtype PubMed ID
nsv516557 CNV gain 19592680
nsv833115 CNV gain 17160897

Variation tolerance for ADSS Gene

Residual Variation Intolerance Score: 22.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADSS Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ADSS Gene

Additional Disease Information for ADSS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ADSS Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ADSS Gene

Publications for ADSS Gene

  1. Cloning and characterization of the cDNA encoding human adenylosuccinate synthetase. (PMID: 1592113) Powell SM … Dixon JE (FEBS letters 1992) 2 3 4 22 58
  2. Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population. (PMID: 19115993) Zhang F … Sham PC (BMC medical genetics 2008) 3 22 44 58
  3. An association study of ADSS gene polymorphisms with schizophrenia. (PMID: 18721483) Zhang F … Liu P (Behavioral and brain functions : BBF 2008) 3 22 44 58
  4. A gene correcting the defect in the CHO mutant Ade -H, deficient in a branch point enzyme (adenylosuccinate synthetase) of de novo purine biosynthesis, is located on the long arm of chromosome 1. (PMID: 2004783) Lai LW … Patterson D (Genomics 1991) 2 3 22 58
  5. Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells. (PMID: 15786719) Sun H … Cao X (Molecular and cellular biochemistry 2005) 3 22 58

Products for ADSS Gene

Sources for ADSS Gene

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