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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
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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

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