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Aliases for ADSS Gene

Aliases for ADSS Gene

  • Adenylosuccinate Synthase 2 3
  • Adenylosuccinate Synthetase, Acidic Isozyme 3 4
  • Adenylosuccinate Synthetase, Liver Isozyme 3 4
  • L-Type Adenylosuccinate Synthetase 3 4
  • IMP--Aspartate Ligase 2 3 4
  • EC 6.3.4.4 4 63
  • AMPSase 2 3 4
  • Adenylosuccinate Synthetase (Ade(-)H-Complementing) 3
  • ADSS 2 3
  • AdSS 2 4
  • 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 Metabolism and Pyrimidine metabolism (KEGG). 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

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

Genomics for ADSS Gene

Regulatory Elements for ADSS Gene

Epigenetics Products

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

Genomic Location for ADSS Gene

Chromosome:
1
Start:
244,408,492 bp from pter
End:
244,452,134 bp from pter
Size:
43,643 bases
Orientation:
Minus strand

Genomic View for ADSS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ADSS Gene

neXtProt entry for ADSS Gene

Proteomics data for ADSS Gene at MOPED

Post-translational modifications for ADSS Gene

  • Ubiquitination at Lys 173, Lys 403, Lys 419, and Lys 441
  • Modification sites at PhosphoSitePlus

Other Protein References for ADSS Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADSS Gene

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

No data available for Gene Families for ADSS Gene

Function for ADSS Gene

Molecular function for ADSS Gene

GENATLAS Biochemistry:
adenylosuccinate synthase,purine nucleotide cycle
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + IMP + L-aspartate = GDP + phosphate + N(6)-(1,2-dicarboxyethyl)-AMP.
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

Enzyme Numbers (IUBMB) 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 NAS 1592113
GO:0005515 protein binding IPI 23455924
GO:0005525 GTP binding NAS 1592113
GO:0042301 phosphate ion binding NAS 1592113
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

No data available for 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
Jensen Localization Image for ADSS Gene COMPARTMENTS Subcellular localization image for ADSS gene
Compartment Confidence
extracellular 5
cytosol 4
plasma membrane 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for ADSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0070062 extracellular exosome IDA 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006144 purine nucleobase metabolic process TAS --
GO:0006164 purine nucleotide biosynthetic process --
GO:0006167 AMP biosynthetic process NAS 1592113
GO:0006531 aspartate metabolic process IEA --
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

(9) Drugs for ADSS Gene - From: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target 0
Adenine Approved Nutra 0
Adenylsuccinic acid Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(10) Additional Compounds for ADSS Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N(6)-(1,2-dicarboxyethyl)AMP
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
adenylate
adenylosuccinate
genes like me logo Genes that share compounds with ADSS: view

Transcripts for ADSS Gene

Unigene Clusters for ADSS Gene

Adenylosuccinate synthase:
Representative Sequences:

Inhibitory RNA Products

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

Flow Cytometry Products

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 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, PaxDb, MOPED, and MaxQB for ADSS Gene



SOURCE GeneReport for Unigene cluster for ADSS Gene Hs.498313

genes like me logo Genes that share expression patterns with ADSS: view

Protein tissue co-expression partners for ADSS Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia ADSS 35
  • 94.52 (n)
  • 98.46 (a)
ADSS 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADSS 35
  • 93.93 (n)
  • 98.03 (a)
ADSS 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adss 35
  • 91.96 (n)
  • 96.71 (a)
Adss 16
Adss 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ADSS 35
  • 99.85 (n)
  • 99.54 (a)
ADSS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adss 35
  • 90.79 (n)
  • 97.37 (a)
oppossum
(Monodelphis domestica)
Mammalia ADSS 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADSS 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADSS 35
  • 81.08 (n)
  • 90.24 (a)
ADSS 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADSS 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adss 35
  • 78.15 (n)
  • 84.68 (a)
MGC75901 35
African clawed frog
(Xenopus laevis)
Amphibia adss-prov 35
zebrafish
(Danio rerio)
Actinopterygii adss 35
adss 35
  • 73 (n)
  • 84.84 (a)
adss 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:LD32788 37
  • 62 (a)
CG17273 36
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C37H5.6 36
  • 48 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE12 36
  • 53 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.1873 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8281 36
  • 59 (a)
OneToMany
Species with no ortholog for ADSS:
  • 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)

Paralogs for ADSS Gene

Paralogs for ADSS Gene

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

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 Sequence Context AA Info Type MAF
rs2068956 -- 244,438,186(+) TGATG(C/T)AAATA intron-variant
rs2306084 -- 244,409,728(-) ATACT(G/T)AGAAA intron-variant
rs3003211 -- 244,449,682(-) TTTAA(A/G)AGTGT intron-variant
rs3003212 -- 244,448,950(-) GGTCA(C/T)TCATC intron-variant
rs3003213 -- 244,444,879(-) GAAAA(G/T)AAGGT intron-variant

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

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

Variation tolerance for ADSS Gene

Residual Variation Intolerance Score: 22.53% 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)

Relevant External Links for ADSS Gene

HapMap Linkage Disequilibrium report
ADSS

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

Disorders for ADSS Gene

Relevant External Links for ADSS

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

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

Publications for ADSS Gene

  1. Adenylosuccinate synthetase: a dominant amplifiable genetic marker in mammalian cells. (PMID: 7825060) Datta S.K. … Kellems R.E. (Somat. Cell Mol. Genet. 1994) 23 25 26 67
  2. Cloning and characterization of the cDNA encoding human adenylosuccinate synthetase. (PMID: 1592113) Powell S.M. … Dixon J.E. (FEBS Lett. 1992) 2 23 67
  3. 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 L.W. … Patterson D. (Genomics 1991) 2 23 67
  4. Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population. (PMID: 19115993) Zhang F. … Sham P.C. (BMC Med. Genet. 2008) 23 67
  5. The CBS subdomain of inosine 5'-monophosphate dehydrogenase regulates purine nucleotide turnover. (PMID: 18312263) Pimkin M. … Markham G.D. (Mol. Microbiol. 2008) 23 67

Products for ADSS Gene

Sources for ADSS Gene

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