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

Gene ID: 440, updated on 7-Apr-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
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Genomic context

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Location:
7q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (97851677..97928441, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (99081731..99158507, complement)
105.20220307 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. Asparagine synthetase regulates lung-cancer metastasis by stabilizing the β-catenin complex and modulating mitochondrial response. Cai DJ, et al. Cell Death Dis, 2022 Jun 23. PMID 35739087, Free PMC Article
  2. 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
  3. Association of allele-specific methylation of the ASNS gene with asparaginase sensitivity and prognosis in T-ALL. Akahane K, et al. Blood Adv, 2022 Jan 11. PMID 34535013, Free PMC Article
  4. High Expression of Asparagine Synthetase Is Associated with Poor Prognosis of Breast Cancer in Chinese Population. Qin C, et al. Cancer Biother Radiopharm, 2020 Oct. PMID 32412789
  5. A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency. Wang C, et al. Mol Genet Genomic Med, 2020 Jun. PMID 32255274, Free PMC Article

See all (149) 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)

Genotypes

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 glutamine metabolic process IEA
Inferred from Electronic Annotation
more info
  
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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NEW Try the new Transcript table

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_2023_10

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

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