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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 61
  • TS11 3 4
  • Asparagine Synthetase [Glutamine-Hydrolyzing] 3
  • 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 Acute Lymphoblastic Leukemia, Childhood. Among its related pathways are Metabolism and Amino acid synthesis and interconversion (transamination). 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

Enhancers for ASNS 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
GH07F097871 1.1 ENCODE 8.9 +0.3 345 2.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 CBX5 ENSG00000243554 ASNS RPS3AP29 ENSG00000226744
GH07F097771 0.6 ENCODE 5.1 +99.7 99732 2.9 ZNF316 MAFG ZNF24 NFE2 MAFK EMSY OR7E38P ASNS BAIAP2L1 GC07M097768 GC07M097771
GH07F097797 0.2 ENCODE 4.5 +73.9 73876 1.4 OR7E38P ASNS GC07M097771 GC07P097867
GH07F097873 0.2 ENCODE 0.8 -1.2 -1200 0.2 ASNS PIR37110
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASNS on UCSC Golden Path with GeneCards custom track

Promoters for ASNS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000158311 541 1999 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 CBX5

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

Selected DME Specific Peptides for ASNS Gene

P08243:
  • LLSGGLDSSLVA
  • ATDPSARTL
  • PYLWLCYNGEIYN
  • CLSVQCLSAMKIAHRGPDAFRFENVNG
  • EVIFSLETYDITTVRAS
  • TKEGYYYR
  • TNCCFGFHRLAVVD
  • SPDLLAARKVA
  • SGEGSDE
  • NGEIYNH
  • KVEPFLPGHYEVLDLKP
  • RDTYGVRPLFK
  • SYYLSLP
  • ETVKNNLRILF
  • FEFEYQT
  • RPKEAFSD
  • HYPGRADWL
  • RIPKNGIEK

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

Gene Ontology (GO) - Molecular Function for ASNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004066 asparagine synthase (glutamine-hydrolyzing) activity IEA,IDA 2564390
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0042803 protein homodimerization activity IBA --
genes like me logo Genes that share ontologies with ASNS: view
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

Animal Model Products

  • Taconic Biosciences Mouse Models for ASNS

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ASNS Gene

Localization for ASNS Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASNS gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ASNS Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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 IC,IDA 2573597
GO:0006541 glutamine metabolic process IBA --
GO:0008652 cellular amino acid biosynthetic process IEA,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

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

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 0
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 59

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ASNS Gene



NURSA nuclear receptor signaling pathways regulating expression of ASNS Gene:

ASNS

SOURCE GeneReport for Unigene cluster for ASNS Gene:

Hs.489207
genes like me logo Genes that share expression patterns with ASNS: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia ASNS 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia ASNS 35
  • 95 (a)
OneToOne
LOC475240 34
  • 91.8 (n)
cow
(Bos Taurus)
Mammalia ASNS 34 35
  • 91.09 (n)
rat
(Rattus norvegicus)
Mammalia Asns 34
  • 88 (n)
mouse
(Mus musculus)
Mammalia Asns 34 16 35
  • 87.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASNS 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASNS 34 35
  • 77.02 (n)
lizard
(Anolis carolinensis)
Reptilia ASNS 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asns 34
  • 73.43 (n)
Str.4783 34
zebrafish
(Danio rerio)
Actinopterygii asns 34 35
  • 68.83 (n)
zgc56605 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9138 34
fruit fly
(Drosophila melanogaster)
Insecta asparagine-synthetase 35
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea asns-1 34 35
  • 51.06 (n)
nrs-2 36
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ASN2 35 37
  • 37 (a)
OneToMany
ASN1 35
  • 36 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.135 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14999 34
Species where no ortholog for ASNS was found in the sources mined by GeneCards:
  • 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

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
rs398122973 Asparagine synthetase deficiency (ASNSD) [MIM:615574], Pathogenic 97,855,406(-) TGATC(G/T)TCTCT reference, missense
rs398122974 Asparagine synthetase deficiency (ASNSD) [MIM:615574], Pathogenic 97,852,297(-) CTGCC(C/T)GCACG reference, missense
rs398122975 Asparagine synthetase deficiency (ASNSD) [MIM:615574], Pathogenic 97,869,140(-) TTGGG(A/C/T)GCTGT intron-variant, reference, missense
rs754043007 Pathogenic 97,853,097(+) ACCAG(A/G)AATTC reference, missense
rs797045306 Pathogenic 97,864,333(-) TAGAG(A/T)TACAT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv981552 CNV duplication 23825009
nsv981551 CNV duplication 23825009
nsv970554 CNV duplication 23825009
nsv428178 CNV gain 18775914
esv2759546 CNV loss 17122850
esv2734862 CNV deletion 23290073
esv2672632 CNV deletion 23128226
dgv444e215 CNV deletion 23714750
dgv3621n106 CNV deletion 24896259

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

Human Gene Mutation Database (HGMD)
ASNS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASNS

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

Disorders for ASNS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
asparagine synthetase deficiency
  • asns deficiency
acute lymphoblastic leukemia, childhood
  • childhood acute lymphocytic leukemia
diaphragmatic eventration
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 64
  2. 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 22 64
  3. 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 22 64
  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 22 64
  5. Asparagine synthetase is a predictive biomarker of L-asparaginase activity in ovarian cancer cell lines. (PMID: 18852115) Lorenzi P.L. … Weinstein J.N. (Mol. Cancer Ther. 2008) 3 22 64

Products for ASNS Gene

Sources for ASNS Gene

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