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    ASRGL1 asparaginase and isoaspartyl peptidase 1 [ Homo sapiens (human) ]

    Gene ID: 80150, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ASRGL1provided by HGNC
    Official Full Name
    asparaginase and isoaspartyl peptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:16448
    See related
    Ensembl:ENSG00000162174 MIM:609212; AllianceGenome:HGNC:16448
    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
    ALP; ALP1; CRASH
    Summary
    Enables asparaginase activity and beta-aspartyl-peptidase activity. Involved in asparagine catabolic process via L-aspartate. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 38.7), kidney (RPKM 13.5) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ASRGL1 in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62337448..62401431)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62326729..62390808)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62104920..62160884)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene secretoglobin family 1D member 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:62092655-62093156 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:62093977-62094636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62104831-62105500 Neighboring gene nucleophosmin 1 pseudogene 35 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62122811-62123537 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62123538-62124264 Neighboring gene uncharacterized LOC124902682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62138184-62138706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62138707-62139229 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62149617-62150182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62150183-62150748 Neighboring gene regulator of chromosome condensation 2 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62164057-62164558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62164559-62165058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62165726-62166370 Neighboring gene uncharacterized LOC102723765 Neighboring gene Sharpr-MPRA regulatory region 15173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62193633-62194180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62201545-62202046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62202047-62202546 Neighboring gene secretoglobin family 1A member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4817 Neighboring gene Sharpr-MPRA regulatory region 7741 Neighboring gene AHNAK nucleoprotein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62273135-62273882 Neighboring gene Sharpr-MPRA regulatory region 266 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:62302796-62303995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62306574-62307176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62307177-62307777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62312785-62313295 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62313296-62313806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3415

    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 regulates mTORC1 activity via a TSC2-dependent pathway in pancreatic beta cells. Seike M, et al. Biochem Biophys Res Commun, 2023 Apr 16. PMID 36842323
    2. Cell growth stimulation by CRASH, an asparaginase-like protein overexpressed in human tumors and metastatic breast cancers. Weidle UH, et al. Anticancer Res, 2009 Apr. PMID 19414332
    3. Uncoupling intramolecular processing and substrate hydrolysis in the N-terminal nucleophile hydrolase hASRGL1 by circular permutation. Li W, et al. ACS Chem Biol, 2012 Nov 16. PMID 22891768, Free PMC Article
    4. Loss of ASRGL1 expression is an independent biomarker for disease-specific survival in endometrioid endometrial carcinoma. Edqvist PH, et al. Gynecol Oncol, 2015 Jun. PMID 25858696
    5. Intramolecular Cleavage of the hASRGL1 Homodimer Occurs in Two Stages. Li W, et al. Biochemistry, 2016 Feb 16. PMID 26780688, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression.
      Title: TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression.
    2. ASRGL1 downregulation suppresses hepatocellular carcinoma tumorigenesis in a CDK1-dependent manner.
      Title: ASRGL1 downregulation suppresses hepatocellular carcinoma tumorigenesis in a CDK1-dependent manner.
    3. l-Asparaginase regulates mTORC1 activity via a TSC2-dependent pathway in pancreatic beta cells.
      Title: l-Asparaginase regulates mTORC1 activity via a TSC2-dependent pathway in pancreatic beta cells.
    4. The role of the quaternary structure in the activation of human L-asparaginase.
      Title: The role of the quaternary structure in the activation of human L-asparaginase.
    5. The strongest associations between protein abundance and Alzheimer's disease severity were found for APLP1, CNTN2 and SPP1 proteins The best discrimination between mild cognitive impairment vs. controls was observed with a model combining APLP1 and SPP1 proteins.
      Title: Brain-related proteins as potential CSF biomarkers of Alzheimer's disease: A targeted mass spectrometry approach.
    6. ASRGL1 was closely associated with growth and apoptosis in cervical cancer. Therefore, ASRGL1 may be a novel, potentially effective anticervical cancer therapy.
      Title: RNAi‑mediated downregulation of asparaginase‑like protein 1 inhibits growth and promotes apoptosis of human cervical cancer line SiHa.
    7. A panel including p53 and ASRGL1 immunohistochemistry was identified as the most accurate predictor of relapse-free and disease-specific survival. Within this panel, patients were allocated into high- (5.9%), intermediate- (29.5%) and low- (64.6%) risk groups where high-risk patients had a 30-fold risk (P<0.001) of dying of EEC compared to the low-risk group.
      Title: Combined ASRGL1 and p53 immunohistochemistry as an independent predictor of survival in endometrioid endometrial carcinoma.
    8. In a prospective setting ASRGL1 validates as a strong prognostic biomarker in endometrial carcinoma. Loss of ASRGL1 is associated with aggressive disease and poor survival.
      Title: Asparaginase-like protein 1 is an independent prognostic marker in primary endometrial cancer, and is frequently lost in metastatic lesions.
    9. Our studies suggest that the p.G178R mutation in ASRGL1 leads to photoreceptor degeneration resulting in progressive vision loss.
      Title: A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
    10. Multiple negatively charged small molecules interact within the active site of ASRGL1 to act as a base in promoting cleavage.
      Title: Intramolecular Cleavage of the hASRGL1 Homodimer Occurs in Two Stages.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of asparaginase like 1 (ASRGL1) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • FLJ22316

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables asparaginase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables asparaginase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables beta-aspartyl-peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in asparagine catabolic process via L-aspartate IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in asparagine catabolic process via L-aspartate IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in asparagine catabolic process via L-aspartate ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 
    located_in photoreceptor inner segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    isoaspartyl peptidase/L-asparaginase
    Names
    L-asparaginase
    L-asparagine amidohydrolase
    asparaginase like 1
    asparaginase-like 1 protein
    asparaginase-like protein 1
    beta-aspartyl-peptidase
    isoaspartyl dipeptidase
    testis secretory sperm-binding protein Li 242mP
    NP_001077395.1
    NP_079356.3
    XP_011543567.1
    XP_011543568.1
    XP_047283587.1
    XP_047283588.1
    XP_054226000.1
    XP_054226001.1
    XP_054226002.1
    XP_054226003.1

    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.

    mRNA and Protein(s)

    1. NM_001083926.2 → NP_001077395.1  isoaspartyl peptidase/L-asparaginase

      See identical proteins and their annotated locations for NP_001077395.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AP003064, BC093070, DA159051, DT220454
      Consensus CDS
      CCDS8019.1
      UniProtKB/Swiss-Prot
      B2R7Q0, Q567Q4, Q6P1P0, Q7L266, Q8NI34, Q9H6F7
      UniProtKB/TrEMBL
      A0A024R573, B3KR33
      Related
      ENSP00000400057.2, ENST00000415229.6
      Conserved Domains (2) summary
      PRK10226
      Location:1 → 290
      PRK10226; isoaspartyl peptidase; Provisional
      cd04702
      Location:2 → 291
      ASRGL1_like; Metazoan L-Asparaginase type 2

    2. NM_025080.4 → NP_079356.3  isoaspartyl peptidase/L-asparaginase

      See identical proteins and their annotated locations for NP_079356.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AP003064, BC021295, BP308677, DT220454
      Consensus CDS
      CCDS8019.1
      UniProtKB/Swiss-Prot
      B2R7Q0, Q567Q4, Q6P1P0, Q7L266, Q8NI34, Q9H6F7
      UniProtKB/TrEMBL
      A0A024R573, B3KR33
      Related
      ENSP00000301776.5, ENST00000301776.9
      Conserved Domains (2) summary
      PRK10226
      Location:1 → 290
      PRK10226; isoaspartyl peptidase; Provisional
      cd04702
      Location:2 → 291
      ASRGL1_like; Metazoan L-Asparaginase type 2

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      62337448..62401431
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545265.4 → XP_011543567.1  isoaspartyl peptidase/L-asparaginase isoform X1

      Conserved Domains (1) summary
      cd04702
      Location:2 → 203
      ASRGL1_like; Metazoan L-Asparaginase type 2

    2. XM_047427631.1 → XP_047283587.1  isoaspartyl peptidase/L-asparaginase isoform X2

    3. XM_047427632.1 → XP_047283588.1  isoaspartyl peptidase/L-asparaginase isoform X3

    4. XM_011545266.4 → XP_011543568.1  isoaspartyl peptidase/L-asparaginase isoform X3

      UniProtKB/TrEMBL
      A0A087WUG3
      Related
      ENSP00000478649.1, ENST00000534571.5
      Conserved Domains (1) summary
      cl00635
      Location:2 → 183
      Ntn_Asparaginase_2_like; L-Asparaginase type 2-like enzymes of the NTN-hydrolase superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62326729..62390808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370025.1 → XP_054226000.1  isoaspartyl peptidase/L-asparaginase isoform X1

    2. XM_054370026.1 → XP_054226001.1  isoaspartyl peptidase/L-asparaginase isoform X2

    3. XM_054370028.1 → XP_054226003.1  isoaspartyl peptidase/L-asparaginase isoform X3

    4. XM_054370027.1 → XP_054226002.1  isoaspartyl peptidase/L-asparaginase isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L266.2 GenPept UniProtKB/Swiss-Prot:Q7L266

    Gene LinkOut

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

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