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 5
  • 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
  • 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

  • This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for ADSSL1 Gene

ADSSL1 (Adenylosuccinate Synthase Like 1) is a Protein Coding gene. Among its related pathways are Alanine, aspartate and glutamate metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and GTPase activity. 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

Enhancers for ADSSL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ADSSL1 on UCSC Golden Path with GeneCards custom track

Promoters for ADSSL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADSSL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADSSL1 Gene

Chromosome:
14
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

Genes around ADSSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADSSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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

Domains & Families 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 :
  • Belongs to the adenylosuccinate synthetase family.
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:0003924 GTPase activity IEA --
GO:0004019 adenylosuccinate synthase activity IEA,IDA 15786719
GO:0005525 GTP binding IEA,NAS 15786719
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with ADSSL1: view
genes like me logo Genes that share phenotypes with ADSSL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ADSSL1

CRISPR Products

miRNA for ADSSL1 Gene

miRTarBase miRNAs that target ADSSL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 5
mitochondrion 3

Gene Ontology (GO) - Cellular Components for ADSSL1 Gene

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

Pathways & Interactions for ADSSL1 Gene

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

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:0006144 purine nucleobase metabolic process TAS --
GO:0006163 purine nucleotide metabolic process IEA --
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006167 AMP biosynthetic process IDA 15786719
GO:0006531 aspartate metabolic process IEA --
genes like me logo Genes that share ontologies with ADSSL1: view

No data available for SIGNOR curated interactions for ADSSL1 Gene

Drugs & Compounds for ADSSL1 Gene

(8) Drugs for ADSSL1 Gene - From: DrugBank and HMDB

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

(3) Additional Compounds for ADSSL1 Gene - From: HMDB

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
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:

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 (x23.0) and Heart - Left Ventricle (x5.5).

Protein differential expression in normal tissues from HIPED for ADSSL1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ADSSL1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-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

(1) 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
rs10254 -- 104,747,039(-) CAGAC(A/G)CTGCC utr-variant-3-prime
rs7141697 -- 104,734,168(+) CCTAT(C/G)AGCCG intron-variant
rs7142772 -- 104,734,040(+) TGCTG(G/T)AGGGA intron-variant
rs8004194 -- 104,741,335(+) GAGGG(A/G)GGGGC intron-variant
rs7149551 -- 104,744,422(+) GGCGG(A/G)AGATG 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

Variation tolerance for ADSSL1 Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.52% of all genes are more intolerant (likely to be disease-causing)

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADSSL1

No disorders were found for ADSSL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot 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 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. ADSSL1 mutation relevant to autosomal recessive adolescent-onset distal myopathy. (PMID: 26506222) Park H.J. … Choi B.O. (Ann. Neurol. 2015) 3
  5. Beta-amyloid toxicity modifier genes and the risk of Alzheimer's disease. (PMID: 22984654) Rosenthal S.L. … Kamboh M.I. (Am J Neurodegener Dis 2012) 3

Products for ADSSL1 Gene

Sources for ADSSL1 Gene

Content