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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
  • EC 6.3.4.4 4 61
  • AMPSase 2 3 4
  • Adenylosuccinate Synthetase (Ade(-)H-Complementing) 3
  • Adenylosuccinate Synthetase Isozyme 2 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 purine nucleotides de novo biosynthesis. 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

Enhancers for ADSS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F244318 0.9 FANTOM5 Ensembl ENCODE 17.7 +129.4 129427 9.0 PKNOX1 WRNIP1 YY1 ZNF121 CBX5 FOS ZNF202 SP5 JUNB REST ADSS C1orf100 ENSG00000236031 AKT3 LOC105373262 GC01M244263
GH01F244346 1.8 FANTOM5 Ensembl ENCODE 12.9 +101.2 101174 8.8 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 CBX5 FOS KLF13 ADSS C1orf100 LOC105373262
GH01F244832 0.7 ENCODE 12.4 -383.5 -383465 6.4 CREB3L1 MLX FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 TBX21 COX20 ENSG00000240963 ENSG00000238224 ADSS RN7SKP55 RPL37P8 ENSG00000237759 HNRNPU
GH01F244860 1.3 Ensembl ENCODE 12.4 -411.3 -411337 6.9 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF548 ZNF263 SP3 NFYC COX20 ENSG00000240963 ENSG00000238224 ADSS RN7SKP55 RPL37P8 ENSG00000237759 HNRNPU
GH01F244967 0.2 ENCODE 12.4 -518.1 -518132 4.7 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 ZNF263 LOC101928068 EFCAB2 ENSG00000238224 ENSG00000240963 COX20 ADSS RN7SKP55 ENSG00000237759
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ADSS on UCSC Golden Path with GeneCards custom track

Promoters for ADSS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000556285 434 2600 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5

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

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

Selected DME Specific Peptides for ADSS Gene

P30520:
  • TVGGVCTGLG
  • PMVRDGVYF
  • NGFTALALTKLDILD
  • YSSKAAR
  • RRCGWLD
  • GDEGKGK
  • QWGDEGK
  • FIGNGVV
  • YPFVTSS
  • YEALHGPPKK
  • EYDFHLLPSGIIN
  • KAYTTRVG
  • NAGHTVV
  • HLPGLFEEAEKN
  • LPVNAQNY
  • GGNNAGH
  • PANQEVLNKVEVQYKTLPGWNTDISNAR
  • EIKVGVAYKL
  • GTTKKGIGP
  • TGRKRRCGW

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 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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for ADSS Gene COMPARTMENTS Subcellular localization image for ADSS gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ADSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IBA --
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

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

(10) 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
Adenylsuccinic acid Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(9) 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
genes like me logo Genes that share compounds with ADSS: view

Transcripts for ADSS Gene

mRNA/cDNA for ADSS Gene

Unigene Clusters for ADSS Gene

Adenylosuccinate synthase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and 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, PaxDb, 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
genes like me logo Genes that share expression patterns with ADSS: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ADSS 34 35
  • 99.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADSS 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADSS 34 35
  • 94.52 (n)
dog
(Canis familiaris)
Mammalia ADSS 34 35
  • 93.93 (n)
mouse
(Mus musculus)
Mammalia Adss 34 16 35
  • 91.96 (n)
oppossum
(Monodelphis domestica)
Mammalia ADSS 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adss 34
  • 90.79 (n)
chicken
(Gallus gallus)
Aves ADSS 34 35
  • 81.08 (n)
lizard
(Anolis carolinensis)
Reptilia ADSS 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adss 34
  • 78.15 (n)
MGC75901 34
African clawed frog
(Xenopus laevis)
Amphibia adss-prov 34
zebrafish
(Danio rerio)
Actinopterygii adss 34 34 35
  • 73 (n)
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:LD32788 36
  • 62 (a)
CG17273 35
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C37H5.6 35
  • 48 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE12 35
  • 53 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.1873 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8281 35
  • 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)

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
rs10652281 -- 244,414,185(+) TGTCT(-/AATA)GTCAA intron-variant
rs10927232 -- 244,413,205(+) CATGA(C/T)GCATG intron-variant
rs10927233 -- 244,420,628(+) GACTA(C/T)ATTAC intron-variant
rs10927235 -- 244,448,413(+) ATATC(A/G)AGTGA intron-variant
rs111244485 -- 244,429,619(+) GGGCC(A/G)TGGCT 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)

Relevant External Links for ADSS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

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 S.M. … Dixon J.E. (FEBS Lett. 1992) 2 3 4 22 64
  2. 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) 3 22 46 64
  3. An association study of ADSS gene polymorphisms with schizophrenia. (PMID: 18721483) Zhang F. … Liu P. (Behav Brain Funct 2008) 3 22 46 64
  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 L.W. … Patterson D. (Genomics 1991) 2 3 22 64
  5. Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells. (PMID: 15786719) Sun H. … Cao X. (Mol. Cell. Biochem. 2005) 3 22 64

Products for ADSS Gene

Sources for ADSS Gene

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