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Aliases for ASNS Gene

Aliases for ASNS Gene

  • Asparagine Synthetase (Glutamine-Hydrolyzing) 2 3 5
  • Glutamine-Dependent Asparagine Synthetase 3 4
  • EC 6.3.5.4 4 63
  • TS11 3 4
  • TS11 Cell Cycle Control Protein 3
  • Cell Cycle Control Protein TS11 4
  • Asparagine Synthetase 2
  • ASNSD 3

External Ids for ASNS Gene

Previous GeneCards Identifiers for ASNS Gene

  • GC07M096016
  • GC07M097079
  • GC07M097093
  • GC07M097126
  • GC07M097319
  • GC07M097481
  • GC07M092082

Summaries for ASNS Gene

Entrez Gene Summary for ASNS Gene

  • The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for ASNS Gene

ASNS (Asparagine Synthetase (Glutamine-Hydrolyzing)) is a Protein Coding gene. Diseases associated with ASNS include asparagine synthetase deficiency and congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include protein homodimerization activity and asparagine synthase (glutamine-hydrolyzing) activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASNS Gene

Genomics for ASNS Gene

Regulatory Elements for ASNS Gene

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

ENSRs around ASNS on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ASNS gene promoter:

Genomic Location for ASNS Gene

Chromosome:
7
Start:
97,852,117 bp from pter
End:
97,872,542 bp from pter
Size:
20,426 bases
Orientation:
Minus strand

Genomic View for ASNS Gene

Genes around ASNS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ASNS Gene

Proteins for ASNS Gene

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

    Protein Symbol:
    P08243-ASNS_HUMAN
    Recommended name:
    Asparagine synthetase [glutamine-hydrolyzing]
    Protein Accession:
    P08243
    Secondary Accessions:
    • A4D1I8
    • B4DXZ1
    • B7ZAA9
    • D6W5R3
    • E9PCI3
    • E9PCX6
    • P08184
    • Q15666
    • Q549T9
    • Q96HD0

    Protein attributes for ASNS Gene

    Size:
    561 amino acids
    Molecular mass:
    64370 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ASNS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASNS Gene

Proteomics data for ASNS Gene at MOPED

Post-translational modifications for ASNS Gene

  • Ubiquitination at Lys 168, Lys 460, Lys 478, and Lys 504
  • Modification sites at PhosphoSitePlus

Domains & Families for ASNS Gene

Suggested Antigen Peptide Sequences for ASNS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08243

UniProtKB/Swiss-Prot:

ASNS_HUMAN :
  • Contains 1 asparagine synthetase domain.
Domain:
  • Contains 1 asparagine synthetase domain.
  • Contains 1 glutamine amidotransferase type-2 domain.
genes like me logo Genes that share domains with ASNS: view

No data available for Gene Families for ASNS Gene

Function for ASNS Gene

Molecular function for ASNS Gene

GENATLAS Biochemistry:
asparagine synthetase
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-aspartate + L-glutamine + H(2)O = AMP + diphosphate + L-asparagine + L-glutamate.

Enzyme Numbers (IUBMB) for ASNS Gene

genes like me logo Genes that share phenotypes with ASNS: view

Human Phenotype Ontology for ASNS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASNS Gene

MGI Knock Outs for ASNS:
  • Asns tm1a(EUCOMM)Wtsi

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ASNS Gene

Localization for ASNS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASNS Gene COMPARTMENTS Subcellular localization image for ASNS gene
Compartment Confidence
cytosol 5
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ASNS Gene

Pathways & Interactions for ASNS Gene

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

UniProtKB/Swiss-Prot P08243-ASNS_HUMAN

  • Pathway: Amino-acid biosynthesis; L-asparagine biosynthesis; L-asparagine from L-aspartate (L-Gln route): step 1/1.

Gene Ontology (GO) - Biological Process for ASNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006520 cellular amino acid metabolic process IEA --
GO:0006529 asparagine biosynthetic process IEA,IDA 2573597
GO:0006541 glutamine metabolic process IBA --
GO:0008652 cellular amino acid biosynthetic process TAS --
genes like me logo Genes that share ontologies with ASNS: view

No data available for SIGNOR curated interactions for ASNS Gene

Drugs & Compounds for ASNS Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra Target 0
L-Asparagine Approved Nutra Target 0
L-Aspartic acid Approved Nutra Target NMDA agonist 0
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 57

(11) Additional Compounds for ASNS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ASNS: view

Transcripts for ASNS Gene

Unigene Clusters for ASNS Gene

Asparagine synthetase (glutamine-hydrolyzing):
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1: - -
SP2: - - -
SP3: - - - - -
SP4:
SP5: - -
SP6:
SP7: -
SP8: - -
SP9:

Relevant External Links for ASNS Gene

GeneLoc Exon Structure for
ASNS
ECgene alternative splicing isoforms for
ASNS

Expression for ASNS Gene

mRNA expression in normal human tissues for ASNS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASNS Gene

This gene is overexpressed in Breast (22.2), Stomach (11.4), and Islet of Langerhans (8.7).

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



SOURCE GeneReport for Unigene cluster for ASNS Gene Hs.489207

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

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ASNS Gene

Orthologs for ASNS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASNS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ASNS 35
  • 91.09 (n)
  • 94.65 (a)
ASNS 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC475240 35
  • 91.8 (n)
  • 95.19 (a)
ASNS 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asns 35
  • 87.76 (n)
  • 93.94 (a)
Asns 16
Asns 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ASNS 35
  • 99.58 (n)
  • 99.82 (a)
ASNS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asns 35
  • 88 (n)
  • 93.58 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ASNS 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASNS 35
  • 77.02 (n)
  • 80.71 (a)
ASNS 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASNS 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asns 35
  • 73.43 (n)
  • 79.49 (a)
Str.4783 35
zebrafish
(Danio rerio)
Actinopterygii asns 35
  • 68.83 (n)
  • 72.25 (a)
zgc56605 35
asns 36
  • 71 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9138 35
fruit fly
(Drosophila melanogaster)
Insecta asparagine-synthetase 36
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nrs-2 37
  • 36 (a)
asns-1 35
  • 51.06 (n)
  • 40.25 (a)
asns-1 36
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ASN1 36
  • 36 (a)
OneToMany
ASN2 36
  • 37 (a)
OneToMany
ASN2 38
rice
(Oryza sativa)
Liliopsida Os.135 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14999 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
Species with no ortholog for ASNS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 ASNS Gene

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

Paralogs for ASNS Gene

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

No data available for Paralogs for ASNS Gene

Variants for ASNS Gene

Sequence variations from dbSNP and Humsavar for ASNS Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1049674 - 97,859,257(-) GGATG(A/T)ACCCC reference, missense
VAR_070896 Asparagine synthetase deficiency (ASNSD)
VAR_070897 Asparagine synthetase deficiency (ASNSD)
VAR_070898 Asparagine synthetase deficiency (ASNSD)
rs1017070 -- 97,860,118(-) TTCAG(C/T)GCTAC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428178 CNV Gain 18775914
dgv2118e1 CNV Complex 17122850
esv2734862 CNV Deletion 23290073
esv2672632 CNV Deletion 23128226

Variation tolerance for ASNS Gene

Residual Variation Intolerance Score: 13.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASNS Gene

HapMap Linkage Disequilibrium report
ASNS
Human Gene Mutation Database (HGMD)
ASNS

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

Disorders for ASNS Gene

MalaCards: The human disease database

(5) MalaCards diseases for ASNS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
asparagine synthetase deficiency
  • asparagine synthetase
congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
  • asparagine synthetase deficiency
acute lymphoblastic leukemia, childhood
  • childhood acute lymphoblastic leukemia
acute lymphocytic leukemia
  • acute lymphoblastic leukemia
leukemia, acute lymphoblastic
  • leukemia, t-cell acute lymphocytic, somatic
- elite association - COSMIC cancer census association via MalaCards
Search ASNS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASNS_HUMAN
  • Asparagine synthetase deficiency (ASNSD) [MIM:615574]: An inborn error of asparagine biosynthesis that results in a severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity. {ECO:0000269 PubMed:24139043}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ASNS

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

No data available for Genatlas for ASNS Gene

Publications for ASNS Gene

  1. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. (PMID: 24139043) Ruzzo E.K. … Goldstein D.B. (Neuron 2013) 3 4 67
  2. Regulation of asparagine synthetase gene transcription by the basic region leucine zipper transcription factors ATF5 and CHOP. (PMID: 16164412) Al Sarraj J. … Thiel G. (Biol. Chem. 2005) 23 25 26
  3. Transcriptional induction of the human asparagine synthetase gene during the unfolded protein response does not require the ATF6 and IRE1/XBP1 arms of the pathway. (PMID: 18840095) Gjymishka A. … Kilberg M.S. (Biochem. J. 2009) 3 23
  4. Declined asparagine synthetase mRNA expression and enhanced sensitivity to asparaginase in HL-60 cells committed to monocytic differentiation. (PMID: 19414379) Hashimoto K. … Sakagami H. (Anticancer Res. 2009) 3 23
  5. Functional analysis of a novel DNA polymorphism of a tandem repeated sequence in the asparagine synthetase gene in acute lymphoblastic leukemia cells. (PMID: 19054556) Akagi T. … Koeffler H.P. (Leuk. Res. 2009) 3 23

Products for ASNS Gene

Sources for ASNS Gene

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