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ASNS Gene(Protein Coding)

Asparagine Synthetase (Glutamine-Hydrolyzing)

GCID:
GC07M097854
GIFtS:
55
Genes Participants
UDN Logo

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 56
  • 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]

CIViC summary for ASNS Gene

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 Amino acid synthesis and interconversion (transamination) and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and asparagine synthase (glutamine-hydrolyzing) activity.

Additional gene information for ASNS Gene

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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ASNS Gene

Promoters and enhancers for ASNS Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07I097871 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 558.9 +0.3 345 2.1 HDGF PKNOX1 CLOCK ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 POLR2B ASNS PIR37110 RPS3AP26 ENSG00000243554 RPS3AP29 ENSG00000226744 ENSG00000284707
GH07I097864 Promoter 0.5 EPDnew 550.4 +8.0 7980 0.1 ASNS SDHAF3 GC07P097867 GC07M097771 ENSG00000284707
GH07I097873 Enhancer 0.2 ENCODE 550.8 -1.2 -1200 0.2 ASNS PIR37110 ENSG00000284707
GH07I097021 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 12.3 +849.1 849058 3.9 ZSCAN4 ZNF76 SIN3A GLI4 ZNF2 ZNF335 ZNF121 GLIS2 ZNF366 SCRT2 DLX5 ASNS OR7E38P ENSG00000274709
GH07I098616 Promoter/Enhancer 1.2 EPDnew ENCODE 10.5 -745.1 -745116 1.7 CTCF MXI1 KLF1 ZNF777 BACH1 ZNF76 SALL2 ZIC2 ZNF335 ZFHX2 NPTX2 LOC100131859 TRRAP ZKSCAN5 ASNS LOC105375419
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASNS on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ASNS Gene

Genomic Locations for ASNS Gene
chr7:97,852,117-97,872,542
(GRCh38/hg38)
Size:
20,426 bases
Orientation:
Minus strand
chr7:97,481,429-97,501,854
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for ASNS Gene

Proteins for ASNS Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ASNS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Lys168, posLast=460460, posLast=478478, and Lys504
  • Modification sites at PhosphoSitePlus

Other Protein References for ASNS Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ASNS Gene

Gene Families for ASNS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ASNS Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ASNS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for ASNS Gene

Function for ASNS Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Phenotypes From GWAS Catalog 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 EXP,IDA 2564390
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0042803 protein homodimerization activity IEA,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

Clone 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
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol 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 IDA 2573597
GO:0006541 glutamine metabolic process IEA --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
L-Asparagine Approved, Investigational 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 64

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

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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ASNS Gene

(7) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(637) Selected AceView cDNA sequences:
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASNS Gene

Asparagine synthetase (glutamine-hydrolyzing):
Representative Sequences:

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASNS Gene

mRNA expression in normal human tissues for ASNS Gene
mRNA expression by BioGPS for ASNS GenemRNA expression by GTEx 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

Evidence on tissue expression from TISSUES for ASNS Gene

  • Nervous system(4.6)
  • Muscle(4.4)
  • Intestine(4)
  • Lung(3)
  • Blood(2.1)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASNS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • outer ear
  • skull
Thorax:
  • chest wall
  • lung
Abdomen:
  • abdominal wall
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • spinal cord
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 33 34
  • 99.58 (n)
dog
(Canis familiaris)
 Mammalia ASNS 34
  • 95 (a)
 OneToOne
LOC475240 33
  • 91.8 (n)
cow
(Bos Taurus)
 Mammalia ASNS 33 34
  • 91.09 (n)
rat
(Rattus norvegicus)
 Mammalia Asns 33
  • 88 (n)
mouse
(Mus musculus)
 Mammalia Asns 33 16 34
  • 87.76 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ASNS 34
  • 54 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ASNS 33 34
  • 77.02 (n)
lizard
(Anolis carolinensis)
 Reptilia ASNS 34
  • 80 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia asns 33
  • 73.43 (n)
Str.4783 33
zebrafish
(Danio rerio)
 Actinopterygii asns 33 34
  • 68.83 (n)
zgc56605 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9138 33
fruit fly
(Drosophila melanogaster)
 Insecta asparagine-synthetase 34
  • 37 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea asns-1 33 34
  • 51.06 (n)
nrs-2 35
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ASN2 34 36
  • 37 (a)
 OneToMany
ASN1 34
  • 36 (a)
 OneToMany
rice
(Oryza sativa)
 Liliopsida Os.135 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 54 (a)
 OneToMany
-- 34
  • 51 (a)
 OneToMany
-- 34
  • 51 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.14999 33
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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ASNS Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs398122973 pathogenic, Asparagine synthetase deficiency, Asparagine synthetase deficiency (ASNSD) [MIM:615574] 97,855,406(-) A/C coding_sequence_variant, missense_variant
rs398122974 conflicting-interpretations-of-pathogenicity, pathogenic, Asparagine synthetase deficiency, Abnormality of neuronal migration, Asparagine synthetase deficiency (ASNSD) [MIM:615574] 97,852,297(-) G/A coding_sequence_variant, missense_variant
rs398122975 pathogenic, likely-pathogenic, Asparagine synthetase deficiency, not provided, Asparagine synthetase deficiency (ASNSD) [MIM:615574] 97,869,140(-) G/A/T coding_sequence_variant, intron_variant, missense_variant
rs754043007 pathogenic, likely-pathogenic, Abnormality of neuronal migration, not provided 97,853,097(-) G/A coding_sequence_variant, missense_variant
rs780288372 likely-pathogenic, Asparagine synthetase deficiency 97,856,689(-) C/T splice_donor_variant

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

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

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)

Additional Variant Information for ASNS Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ASNS Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for ASNS

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EK … Goldstein DB (Neuron 2013) 3 4 58
  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 MS (The Biochemical journal 2009) 3 22 58
  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 HP (Leukemia research 2009) 3 22 58
  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 research 2009) 3 22 58
  5. Asparagine synthetase is a predictive biomarker of L-asparaginase activity in ovarian cancer cell lines. (PMID: 18852115) Lorenzi PL … Weinstein JN (Molecular cancer therapeutics 2008) 3 22 58

Products for ASNS Gene

Sources for ASNS Gene

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