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    ASNS asparagine synthetase (glutamine-hydrolyzing) [ Homo sapiens (human) ]

    Gene ID: 440, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ASNSprovided by HGNC
    Official Full Name
    asparagine synthetase (glutamine-hydrolyzing)provided by HGNC
    Primary source
    HGNC:HGNC:753
    See related
    Ensembl:ENSG00000070669 MIM:108370; AllianceGenome:HGNC:753
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TS11; ASNSD
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 19.6), testis (RPKM 14.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ASNS in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (97851677..97928441, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (99081731..99158507, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (97480989..97557753, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97243215-97243758 Neighboring gene RN7SK pseudogene 104 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:97360557-97361756 Neighboring gene tachykinin precursor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97407865-97408366 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:97475873-97476053 Neighboring gene CZ1P-ASNS readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18386 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97501601-97502316 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26303 Neighboring gene RPS3A pseudogene 29 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97586255-97586755 Neighboring gene olfactory receptor family 7 subfamily E member 7 pseudogene Neighboring gene microRNA 5692a-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Functional analysis of a novel DNA polymorphism of a tandem repeated sequence in the asparagine synthetase gene in acute lymphoblastic leukemia cells. Akagi T, et al. Leuk Res, 2009 Jul. PMID 19054556, Free PMC Article
    2. Asparagine synthetase is an independent predictor of surgical survival and a potential therapeutic target in hepatocellular carcinoma. Zhang B, et al. Br J Cancer, 2013 Jul 9. PMID 23764751, Free PMC Article
    3. Asparagine synthetase: regulation by cell stress and involvement in tumor biology. Balasubramanian MN, et al. Am J Physiol Endocrinol Metab, 2013 Apr 15. PMID 23403946, Free PMC Article
    4. An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency. Liu L, et al. Clin Chim Acta, 2022 Jun 1. PMID 35469797
    5. Asparagine Synthetase Deficiency. Adam MP, et al. , 1993. PMID 30234940

    See all (169) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrated Bioinformatics Analysis Identified ASNS and DDIT3 as the Therapeutic Target in Castrate-Resistant Prostate Cancer.
      Title: Integrated Bioinformatics Analysis Identified ASNS and DDIT3 as the Therapeutic Target in Castrate-Resistant Prostate Cancer.
    2. An endoplasmic reticulum stress-related signature featuring ASNS for predicting prognosis and immune landscape in prostate cancer.
      Title: An endoplasmic reticulum stress-related signature featuring ASNS for predicting prognosis and immune landscape in prostate cancer.
    3. An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.
      Title: An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.
    4. Asparagine synthetase regulates lung-cancer metastasis by stabilizing the beta-catenin complex and modulating mitochondrial response.
      Title: Asparagine synthetase regulates lung-cancer metastasis by stabilizing the β-catenin complex and modulating mitochondrial response.
    5. The edited UPF1 is correlated with elevated asparagine synthetase in pancreatic ductal adenocarcinomas.
      Title: The edited UPF1 is correlated with elevated asparagine synthetase in pancreatic ductal adenocarcinomas.
    6. Association of allele-specific methylation of the ASNS gene with asparaginase sensitivity and prognosis in T-ALL.
      Title: Association of allele-specific methylation of the ASNS gene with asparaginase sensitivity and prognosis in T-ALL.
    7. Dual blockade of macropinocytosis and asparagine bioavailability shows synergistic anti-tumor effects on KRAS-mutant colorectal cancer.
      Title: Dual blockade of macropinocytosis and asparagine bioavailability shows synergistic anti-tumor effects on KRAS-mutant colorectal cancer.
    8. Influence of genetic variants in asparaginase pathway on the susceptibility to asparaginase-related toxicity and patients' outcome in childhood acute lymphoblastic leukemia.
      Title: Influence of genetic variants in asparaginase pathway on the susceptibility to asparaginase-related toxicity and patients' outcome in childhood acute lymphoblastic leukemia.
    9. High Expression of Asparagine Synthetase Is Associated with Poor Prognosis of Breast Cancer in Chinese Population.
      Title: High Expression of Asparagine Synthetase Is Associated with Poor Prognosis of Breast Cancer in Chinese Population.
    10. Asparagine Synthetase Is Highly Expressed at Baseline in the Pancreas Through Heightened PERK Signaling.
      Title: Asparagine Synthetase Is Highly Expressed at Baseline in the Pancreas Through Heightened PERK Signaling.
    Submit: New GeneRIF Correction See all GeneRIFs (50)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables asparagine synthase (glutamine-hydrolyzing) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables asparagine synthase (glutamine-hydrolyzing) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-asparagine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in asparagine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in asparagine biosynthetic process IC
    Inferred by Curator
    more info
    		 PubMed 
    acts_upstream_of_or_within asparagine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to glucose starvation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    asparagine synthetase [glutamine-hydrolyzing]
    Names
    TS11 cell cycle control protein
    glutamine-dependent asparagine synthetase
    NP_001171546.1
    NP_001171547.1
    NP_001171548.1
    NP_001339425.1
    NP_001664.3
    NP_597680.2
    NP_899199.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033870.2 RefSeqGene

      Range
      61155..81886
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178075.2 → NP_001171546.1  asparagine synthetase [glutamine-hydrolyzing] isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AA948141, AC005326, AK302189, BC014621
      Consensus CDS
      CCDS55132.1
      UniProtKB/TrEMBL
      B4DY32
      Related
      ENSP00000406994.1, ENST00000444334.5
      Conserved Domains (3) summary
      PRK09431
      Location:2 → 534
      asnB; asparagine synthetase B; Provisional
      cd00712
      Location:1 → 185
      AsnB; Glutamine amidotransferases class-II (GATase) asparagine synthase_B type. Asparagine synthetase B catalyses the ATP-dependent conversion of aspartate to asparagine. This enzyme is a homodimer, with each monomer composed of a glutaminase domain and a ...
      pfam00733
      Location:214 → 511
      Asn_synthase; Asparagine synthase

    2. NM_001178076.2 → NP_001171547.1  asparagine synthetase [glutamine-hydrolyzing] isoform c

      See identical proteins and their annotated locations for NP_001171547.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 5 and 6 encode the same isoform (c).
      Source sequence(s)
      AA948141, AC005326, BC014621, DA160359
      Consensus CDS
      CCDS55131.1
      UniProtKB/TrEMBL
      B4DY32
      Related
      ENSP00000408472.1, ENST00000455086.5
      Conserved Domains (2) summary
      pfam00733
      Location:152 → 449
      Asn_synthase; Asparagine synthase
      cl00319
      Location:8 → 123
      Gn_AT_II; Glutamine amidotransferases class-II (GATase). The glutaminase domain catalyzes an amide nitrogen transfer from glutamine to the appropriate substrate. In this process, glutamine is hydrolyzed to glutamic acid and ammonia. This domain is related to ...

    3. NM_001178077.1 → NP_001171548.1  asparagine synthetase [glutamine-hydrolyzing] isoform c

      See identical proteins and their annotated locations for NP_001171548.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 5 and 6 encode the same isoform (c).
      Source sequence(s)
      AA948141, BC014621, DB483248
      Consensus CDS
      CCDS55131.1
      UniProtKB/TrEMBL
      B4DY32
      Related
      ENSP00000414379.1, ENST00000437628.5
      Conserved Domains (2) summary
      pfam00733
      Location:152 → 449
      Asn_synthase; Asparagine synthase
      cl00319
      Location:8 → 123
      Gn_AT_II; Glutamine amidotransferases class-II (GATase). The glutaminase domain catalyzes an amide nitrogen transfer from glutamine to the appropriate substrate. In this process, glutamine is hydrolyzed to glutamic acid and ammonia. This domain is related to ...

    4. NM_001352496.2 → NP_001339425.1  asparagine synthetase [glutamine-hydrolyzing] isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 7 encode the same isoform (a).
      Source sequence(s)
      AC005326, DN993965
      Consensus CDS
      CCDS5652.1
      UniProtKB/Swiss-Prot
      A4D1I8, B4DXZ1, B7ZAA9, D6W5R3, E9PCI3, E9PCX6, P08184, P08243, Q15666, Q549T9, Q96HD0
      UniProtKB/TrEMBL
      B4DY32
      Conserved Domains (1) summary
      PRK09431
      Location:1 → 555
      asnB; asparagine synthetase B; Provisional

    5. NM_001673.5 → NP_001664.3  asparagine synthetase [glutamine-hydrolyzing] isoform a

      See identical proteins and their annotated locations for NP_001664.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 7 encode the same isoform (a).
      Source sequence(s)
      AA948141, AC005326, BC014621
      Consensus CDS
      CCDS5652.1
      UniProtKB/Swiss-Prot
      A4D1I8, B4DXZ1, B7ZAA9, D6W5R3, E9PCI3, E9PCX6, P08184, P08243, Q15666, Q549T9, Q96HD0
      UniProtKB/TrEMBL
      B4DY32
      Related
      ENSP00000377845.3, ENST00000394308.8
      Conserved Domains (1) summary
      PRK09431
      Location:1 → 555
      asnB; asparagine synthetase B; Provisional

    6. NM_133436.3 → NP_597680.2  asparagine synthetase [glutamine-hydrolyzing] isoform a

      See identical proteins and their annotated locations for NP_597680.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest variant. Variants 1, 2, 3, and 7 encode the same isoform (a).
      Source sequence(s)
      AA948141, BC014621, DA961373
      Consensus CDS
      CCDS5652.1
      UniProtKB/Swiss-Prot
      A4D1I8, B4DXZ1, B7ZAA9, D6W5R3, E9PCI3, E9PCX6, P08184, P08243, Q15666, Q549T9, Q96HD0
      UniProtKB/TrEMBL
      B4DY32
      Related
      ENSP00000377846.3, ENST00000394309.7
      Conserved Domains (1) summary
      PRK09431
      Location:1 → 555
      asnB; asparagine synthetase B; Provisional

    7. NM_183356.4 → NP_899199.2  asparagine synthetase [glutamine-hydrolyzing] isoform a

      See identical proteins and their annotated locations for NP_899199.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 7 encode the same isoform (a).
      Source sequence(s)
      AA948141, AC005326, BC014621, DA160359
      Consensus CDS
      CCDS5652.1
      UniProtKB/Swiss-Prot
      A4D1I8, B4DXZ1, B7ZAA9, D6W5R3, E9PCI3, E9PCX6, P08184, P08243, Q15666, Q549T9, Q96HD0
      UniProtKB/TrEMBL
      B4DY32
      Related
      ENSP00000175506.4, ENST00000175506.8
      Conserved Domains (1) summary
      PRK09431
      Location:1 → 555
      asnB; asparagine synthetase B; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      97851677..97928441 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      99081731..99158507 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08243.4 GenPept UniProtKB/Swiss-Prot:P08243

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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