Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ADSSL1 Gene

Aliases for ADSSL1 Gene

  • Adenylosuccinate Synthase Like 1 2 3
  • EC 6.3.4.4 4 63
  • Adenylosuccinate Synthetase, Muscle Isozyme 4
  • Adenylosuccinate Synthetase, Basic Isozyme 4
  • M-Type Adenylosuccinate Synthetase 4
  • IMP--Aspartate Ligase 1 4
  • AMPSase 1 4
  • AdSS 1 4
  • ADSL1 6
  • ADSS1 4

External Ids for ADSSL1 Gene

Previous GeneCards Identifiers for ADSSL1 Gene

  • GC14P099181
  • GC14P103162
  • GC14P104261
  • GC14P105190
  • GC14P085387

Summaries for ADSSL1 Gene

Entrez Gene Summary for ADSSL1 Gene

  • ADSSL1 is a muscle isozyme of adenylosuccinate synthase (EC 6.3.4.4), which catalyzes the initial reaction in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) (Sun et al., 2005 [PubMed 15786719]).[supplied by OMIM, Dec 2008]

GeneCards Summary for ADSSL1 Gene

ADSSL1 (Adenylosuccinate Synthase Like 1) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include GTP binding and phosphate ion binding. An important paralog of this gene is ADSS.

UniProtKB/Swiss-Prot for ADSSL1 Gene

  • Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADSSL1 Gene

Genomics for ADSSL1 Gene

Regulatory Elements for ADSSL1 Gene

Epigenetics Products

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

Genomic Location for ADSSL1 Gene

Start:
104,724,186 bp from pter
End:
104,747,325 bp from pter
Size:
23,140 bases
Orientation:
Plus strand

Genomic View for ADSSL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADSSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADSSL1 Gene

Proteins for ADSSL1 Gene

  • Protein details for ADSSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N142-PURA1_HUMAN
    Recommended name:
    Adenylosuccinate synthetase isozyme 1
    Protein Accession:
    Q8N142
    Secondary Accessions:
    • Q86TT6
    • Q8N714

    Protein attributes for ADSSL1 Gene

    Size:
    457 amino acids
    Molecular mass:
    50208 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH32039.1; Type=Frameshift; Positions=1; Evidence={ECO:0000305}; Sequence=CAD62614.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADSSL1 Gene

    Alternative splice isoforms for ADSSL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADSSL1 Gene

Proteomics data for ADSSL1 Gene at MOPED

Post-translational modifications for ADSSL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ADSSL1 Gene

Antibody Products

Domains for ADSSL1 Gene

Suggested Antigen Peptide Sequences for ADSSL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N142

UniProtKB/Swiss-Prot:

PURA1_HUMAN :
  • Q8N142
Family:
  • Belongs to the adenylosuccinate synthetase family.
genes like me logo Genes that share domains with ADSSL1: view

No data available for Gene Families for ADSSL1 Gene

Function for ADSSL1 Gene

Molecular function for ADSSL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
GTP + IMP + L-aspartate = GDP + phosphate + N(6)-(1,2-dicarboxyethyl)-AMP.
UniProtKB/Swiss-Prot Function:
Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP (By similarity).

Enzyme Numbers (IUBMB) for ADSSL1 Gene

Gene Ontology (GO) - Molecular Function for ADSSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003924 GTPase activity IEA --
GO:0004019 adenylosuccinate synthase activity IDA 15786719
GO:0005515 protein binding --
GO:0005525 GTP binding NAS 15786719
genes like me logo Genes that share ontologies with ADSSL1: view

Phenotypes for ADSSL1 Gene

GenomeRNAi human phenotypes for ADSSL1:
genes like me logo Genes that share phenotypes with ADSSL1: view

Animal Model Products

CRISPR Products

miRNA for ADSSL1 Gene

miRTarBase miRNAs that target ADSSL1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADSSL1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ADSSL1 Gene

Localization for ADSSL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADSSL1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADSSL1 Gene COMPARTMENTS Subcellular localization image for ADSSL1 gene
Compartment Confidence
cytosol 4
mitochondrion 3

Gene Ontology (GO) - Cellular Components for ADSSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15786719
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ADSSL1: view

Pathways for ADSSL1 Gene

genes like me logo Genes that share pathways with ADSSL1: view

Pathways by source for ADSSL1 Gene

UniProtKB/Swiss-Prot Q8N142-PURA1_HUMAN

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

Gene Ontology (GO) - Biological Process for ADSSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process NAS 15786719
GO:0006144 purine nucleobase metabolic process TAS --
GO:0006163 purine nucleotide metabolic process --
GO:0006164 purine nucleotide biosynthetic process --
GO:0006167 AMP biosynthetic process IDA 15786719
genes like me logo Genes that share ontologies with ADSSL1: view

Compounds for ADSSL1 Gene

(7) HMDB Compounds for ADSSL1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenylsuccinic acid
  • 6-Succino-5'-adenylate
19046-78-7
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine triphosphate
  • 5'-GTP
86-01-1
Inosinic acid
  • 5'-IMP
131-99-7
L-Aspartic acid
  • (+)-Aspartate
56-84-8

(7) Drugbank Compounds for ADSSL1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
6-O-Phosphoryl Inosine Monophosphate
target
Adenylosuccinic Acid
  • Aspartyl adenylate
19046-78-7 target
Guanosine-5'-Diphosphate
146-91-8 target
Guanosine-5'-Triphosphate
86-01-1 target
Hadacidin
target
genes like me logo Genes that share compounds with ADSSL1: view

Transcripts for ADSSL1 Gene

Unigene Clusters for ADSSL1 Gene

Adenylosuccinate synthase like 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADSSL1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADSSL1 Gene

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

Relevant External Links for ADSSL1 Gene

GeneLoc Exon Structure for
ADSSL1
ECgene alternative splicing isoforms for
ADSSL1

Expression for ADSSL1 Gene

mRNA expression in normal human tissues for ADSSL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADSSL1 Gene

This gene is overexpressed in Muscle - Skeletal (23.0) and Heart - Left Ventricle (5.5).

Protein differential expression in normal tissues for ADSSL1 Gene

This gene is overexpressed in Tonsil (48.9) and Heart (9.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ADSSL1 Gene

SOURCE GeneReport for Unigene cluster for ADSSL1 Gene Hs.592327

mRNA Expression by UniProt/SwissProt for ADSSL1 Gene

Q8N142-PURA1_HUMAN
Tissue specificity: Predominantly expressed in skeletal muscle and heart, as well as in several hematopoietic cell lines and solid tumors.
genes like me logo Genes that share expressions with ADSSL1: view

In Situ Assay Products

No data available for Expression partners for ADSSL1 Gene

Orthologs for ADSSL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADSSL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ADSSL1 35
  • 87.96 (n)
  • 94.31 (a)
ADSSL1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADSSL1 35
  • 85.7 (n)
  • 89.16 (a)
ADSSL1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adssl1 35
  • 89.28 (n)
  • 96.72 (a)
Adssl1 16
Adssl1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adssl1 35
  • 89.2 (n)
  • 96.94 (a)
oppossum
(Monodelphis domestica)
Mammalia ADSSL1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADSSL1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ADSSL1 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADSSL1 35
  • 79.08 (n)
  • 91.41 (a)
ADSSL1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADSSL1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adssl1 35
  • 76.11 (n)
  • 88.94 (a)
zebrafish
(Danio rerio)
Actinopterygii adssl1 35
  • 74.14 (n)
  • 81.61 (a)
adssl1 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003405 35
  • 63.01 (n)
  • 65.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17273 35
  • 64.85 (n)
  • 63.74 (a)
CG17273 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C37H5.6 35
  • 55.68 (n)
  • 52.2 (a)
C37H5.6 36
  • 42 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL186W 35
  • 57.66 (n)
  • 59.24 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19426g 35
  • 54.82 (n)
  • 57.58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE12 35
  • 55.69 (n)
  • 58.06 (a)
ADE12 36
  • 48 (a)
OneToMany
ADE12 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ADSS 35
  • 52.12 (n)
  • 50.84 (a)
rice
(Oryza sativa)
Liliopsida Os03g0699300 35
  • 54.35 (n)
  • 52.47 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.121 35
corn
(Zea mays)
Liliopsida Zm.309 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3790 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09789 35
  • 56.25 (n)
  • 50.24 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade2 35
  • 57.29 (n)
  • 58.89 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8281 36
  • 54 (a)
OneToMany
Species with no ortholog for ADSSL1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ADSSL1 Gene

ENSEMBL:
Gene Tree for ADSSL1 (if available)
TreeFam:
Gene Tree for ADSSL1 (if available)

Paralogs for ADSSL1 Gene

Paralogs for ADSSL1 Gene

Selected SIMAP similar genes for ADSSL1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ADSSL1: view

Variants for ADSSL1 Gene

Sequence variations from dbSNP and Humsavar for ADSSL1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs6644 -- 104,747,006(-) GTCTG(C/T)GACTA utr-variant-3-prime
rs10254 -- 104,747,039(-) CAGAC(A/G)CTGCC utr-variant-3-prime
rs3803307 -- 104,740,797(-) GTCCA(C/T)GCTGG intron-variant
rs3803308 -- 104,739,396(-) CTGTA(C/G)TCCAG intron-variant
rs3803309 -- 104,739,038(-) GTGCC(C/T)GGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADSSL1 Gene

Variant ID Type Subtype PubMed ID
nsv902372 CNV Loss 21882294
dgv2008n71 CNV Loss 21882294
dgv2009n71 CNV Loss 21882294
nsv902389 CNV Loss 21882294
dgv2011n71 CNV Loss 21882294
dgv265n27 CNV Loss 19166990
nsv470678 CNV Gain 18288195
nsv470677 CNV Loss 18288195
dgv2012n71 CNV Loss 21882294
dgv2013n71 CNV Loss 21882294
nsv517038 CNV Loss 19592680
dgv2014n71 CNV Loss 21882294
nsv820230 CNV Gain 19587683
dgv2015n71 CNV Loss 21882294
dgv266n27 CNV Loss 19166990
nsv456455 CNV Loss 19166990
nsv902407 CNV Gain 21882294
nsv1437 CNV Insertion 18451855

Relevant External Links for ADSSL1 Gene

HapMap Linkage Disequilibrium report
ADSSL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADSSL1 Gene

Disorders for ADSSL1 Gene

Relevant External Links for ADSSL1

Genetic Association Database (GAD)
ADSSL1
Human Genome Epidemiology (HuGE) Navigator
ADSSL1

No disorders were found for ADSSL1 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for ADSSL1 Gene

Publications for ADSSL1 Gene

  1. 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 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3
  5. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PMID: 21085059) Israni A. … Oetting W.S. (Transplantation 2010) 48

Products for ADSSL1 Gene

Sources for ADSSL1 Gene

Back to Top

Content