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    ASPG asparaginase [ Homo sapiens (human) ]

    Gene ID: 374569, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ASPGprovided by HGNC
    Official Full Name
    asparaginaseprovided by HGNC
    Primary source
    HGNC:HGNC:20123
    See related
    Ensembl:ENSG00000166183 MIM:618472; AllianceGenome:HGNC:20123
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPA/WT; LYSOLP; C14orf76; hASNase1
    Summary
    Predicted to enable acyltransferase activity, transferring groups other than amino-acyl groups; asparaginase activity; and lysophospholipase activity. Predicted to be involved in asparagine metabolic process and phospholipid metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver (RPKM 7.5), kidney (RPKM 3.8) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q32.33
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104085700..104115582)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (98322937..98352910)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104552037..104581919)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene tudor domain containing 9 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:104483234-104484433 Neighboring gene RNA, 7SL, cytoplasmic 634, pseudogene Neighboring gene uncharacterized LOC124903408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104600835-104601334 Neighboring gene microRNA 203a Neighboring gene microRNA 203b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104601943-104602516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104602803-104603514 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104603515-104604226 Neighboring gene KIF26A divergent transcript Neighboring gene kinesin family member 26A

    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. L-asparaginase activity and anti-L-asparaginase antibody as biomarkers in estimating PEG-asp-related anaphylaxis risk in childhood acute lymphoblastic leukemia patients. Cui J, et al. Allergol Immunopathol (Madr), 2023. PMID 37169557
    2. In vivo stabilization of a less toxic asparaginase variant leads to a durable antitumor response in acute leukemia. Van Trimpont M, et al. Haematologica, 2023 Feb 1. PMID 35979719, Free PMC Article
    3. Molecular dynamics simulations of human L-asparaginase1: Insights into structural determinants of enzymatic activity. Guimarães AVF, et al. J Mol Graph Model, 2021 Dec. PMID 34461521
    4. Symptomatic Cerebral Sinovenous Thrombosis Associated With L-Asparaginase In Children With Acute Lymphoblastic Leukemia: A Single Institution Experience Over 17 Years. Malhotra P, et al. J Pediatr Hematol Oncol, 2018 Oct. PMID 29554021
    5. The human asparaginase enzyme (ASPG) inhibits growth in leukemic cells. Belviso S, et al. PLoS One, 2017. PMID 28542249, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. L-asparaginase activity and anti-L-asparaginase antibody as biomarkers in estimating PEG-asp-related anaphylaxis risk in childhood acute lymphoblastic leukemia patients.
      Title: L-asparaginase activity and anti-L-asparaginase antibody as biomarkers in estimating PEG-asp-related anaphylaxis risk in childhood acute lymphoblastic leukemia patients.
    2. In vivo stabilization of a less toxic asparaginase variant leads to a durable antitumor response in acute leukemia.
      Title: In vivo stabilization of a less toxic asparaginase variant leads to a durable antitumor response in acute leukemia.
    3. Molecular dynamics simulations of human L-asparaginase1: Insights into structural determinants of enzymatic activity.
      Title: Molecular dynamics simulations of human L-asparaginase1: Insights into structural determinants of enzymatic activity.
    4. Incidence of symptomatic L-asparaginase associated Cerebral Sinovenous Thrombosis during ALL treatment was 1.5% with high case fatality rate (28%).
      Title: Symptomatic Cerebral Sinovenous Thrombosis Associated With L-Asparaginase In Children With Acute Lymphoblastic Leukemia: A Single Institution Experience Over 17 Years.
    5. To determine the individual contribution of each of the three conserved active-site threonines (threonine triad Thr168, Thr186, Thr219) for the enzyme-activating autocleavage and asparaginase reactions, we prepared the T168S, T186V and T219A/V mutants.
      Title: Elucidation of the specific function of the conserved threonine triad responsible for human L-asparaginase autocleavage and substrate hydrolysis.
    6. Human 60-kDa lysophospholipase contains an N-terminal L-asparaginase domain that is allosterically regulated by L-asparagine.
      Title: Human 60-kDa lysophospholipase contains an N-terminal L-asparaginase domain that is allosterically regulated by L-asparagine.
    7. In the cleaved state, Thr168 of L-asparaginase directly activates its hydroxyl group (distance of 2.9 A).
      Title: Structures of apo and product-bound human L-asparaginase: insights into the mechanism of autoproteolysis and substrate hydrolysis.
    8. The 60kDa lysophospholipase downregulates basal and Sgk1-dependent ENaC activity.
      Title: 60kDa lysophospholipase, a new Sgk1 molecular partner involved in the regulation of ENaC.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables acyltransferase activity, transferring groups other than amino-acyl groups ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables asparaginase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables asparaginase activity TAS
    Traceable Author Statement
    more info
    		  
    enables lysophospholipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidyl phospholipase B activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aspartate family amino acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    60 kDa lysophospholipase
    Names
    PAF acetylhydrolase
    asparaginase homolog
    lysophospholipase-transacylase
    wild-type L-asparaginase
    NP_001073933.2
    NP_001397989.1
    XP_005267647.1
    XP_016876754.1
    XP_016876755.1
    XP_016876756.1
    XP_016876757.1
    XP_016876758.1
    XP_016876759.1
    XP_016876760.1
    XP_016876761.1
    XP_016876762.1
    XP_016876763.1
    XP_016876764.1
    XP_016876765.1
    XP_047287311.1
    XP_047287312.1
    XP_054231980.1
    XP_054231981.1
    XP_054231982.1
    XP_054231983.1
    XP_054231984.1
    XP_054231985.1
    XP_054231986.1
    XP_054231987.1
    XP_054231988.1
    XP_054231989.1
    XP_054231990.1
    XP_054231991.1
    XP_054231992.1
    XP_054231993.1
    XP_054231994.1

    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.

    mRNA and Protein(s)

    1. NM_001080464.3 → NP_001073933.2  60 kDa lysophospholipase isoform 1

      See identical proteins and their annotated locations for NP_001073933.2

      Status: VALIDATED

      Source sequence(s)
      AL136001, AW024833, BC136637, BM544197, BX280385, BX407951
      Consensus CDS
      CCDS45170.2
      UniProtKB/Swiss-Prot
      B9EGQ2, Q86U10, Q8IV80
      Related
      ENSP00000450040.1, ENST00000551177.6
      Conserved Domains (4) summary
      PTZ00322
      Location:504 → 553
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      sd00045
      Location:433 → 464
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:408 → 496
      Ank_2; Ankyrin repeats (3 copies)
      cl00216
      Location:9 → 361
      L-asparaginase_like; Bacterial L-asparaginases and related enzymes

    2. NM_001411060.1 → NP_001397989.1  60 kDa lysophospholipase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL136001
      Consensus CDS
      CCDS91954.1
      UniProtKB/TrEMBL
      G3V1Y8
      Related
      ENSP00000448911.2, ENST00000546892.6

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      104085700..104115582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431356.1 → XP_047287312.1  60 kDa lysophospholipase isoform X15

    2. XM_005267590.5 → XP_005267647.1  60 kDa lysophospholipase isoform X14

      See identical proteins and their annotated locations for XP_005267647.1

      UniProtKB/Swiss-Prot
      Q86U10
      Conserved Domains (5) summary
      cd00204
      Location:407 → 553
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:408 → 496
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:503 → 553
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:433 → 464
      ANK; ANK repeat [structural motif]
      cl00216
      Location:9 → 361
      L-asparaginase_like; Bacterial L-asparaginases and related enzymes

    3. XM_017021268.2 → XP_016876757.1  60 kDa lysophospholipase isoform X4

    4. XM_017021274.2 → XP_016876763.1  60 kDa lysophospholipase isoform X11

    5. XM_017021267.2 → XP_016876756.1  60 kDa lysophospholipase isoform X3

    6. XM_017021273.2 → XP_016876762.1  60 kDa lysophospholipase isoform X10

    7. XM_017021276.2 → XP_016876765.1  60 kDa lysophospholipase isoform X13

    8. XM_017021266.2 → XP_016876755.1  60 kDa lysophospholipase isoform X2

    9. XM_017021272.2 → XP_016876761.1  60 kDa lysophospholipase isoform X9

    10. XM_017021275.2 → XP_016876764.1  60 kDa lysophospholipase isoform X12

    11. XM_047431355.1 → XP_047287311.1  60 kDa lysophospholipase isoform X6

    12. XM_017021265.1 → XP_016876754.1  60 kDa lysophospholipase isoform X1

    13. XM_017021270.1 → XP_016876759.1  60 kDa lysophospholipase isoform X7

    14. XM_017021271.1 → XP_016876760.1  60 kDa lysophospholipase isoform X8

    15. XM_017021269.1 → XP_016876758.1  60 kDa lysophospholipase isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      98322937..98352910
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376019.1 → XP_054231994.1  60 kDa lysophospholipase isoform X15

    2. XM_054376018.1 → XP_054231993.1  60 kDa lysophospholipase isoform X14

    3. XM_054376008.1 → XP_054231983.1  60 kDa lysophospholipase isoform X4

    4. XM_054376015.1 → XP_054231990.1  60 kDa lysophospholipase isoform X11

    5. XM_054376007.1 → XP_054231982.1  60 kDa lysophospholipase isoform X3

    6. XM_054376014.1 → XP_054231989.1  60 kDa lysophospholipase isoform X10

    7. XM_054376017.1 → XP_054231992.1  60 kDa lysophospholipase isoform X13

    8. XM_054376006.1 → XP_054231981.1  60 kDa lysophospholipase isoform X2

    9. XM_054376013.1 → XP_054231988.1  60 kDa lysophospholipase isoform X9

    10. XM_054376016.1 → XP_054231991.1  60 kDa lysophospholipase isoform X12

    11. XM_054376010.1 → XP_054231985.1  60 kDa lysophospholipase isoform X6

    12. XM_054376005.1 → XP_054231980.1  60 kDa lysophospholipase isoform X1

    13. XM_054376011.1 → XP_054231986.1  60 kDa lysophospholipase isoform X7

    14. XM_054376012.1 → XP_054231987.1  60 kDa lysophospholipase isoform X8

    15. XM_054376009.1 → XP_054231984.1  60 kDa lysophospholipase isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86U10.3 GenPept UniProtKB/Swiss-Prot:Q86U10

    Gene LinkOut

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