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    CMBL carboxymethylenebutenolidase homolog [ Homo sapiens (human) ]

    Gene ID: 134147, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CMBLprovided by HGNC
    Official Full Name
    carboxymethylenebutenolidase homologprovided by HGNC
    Primary source
    HGNC:HGNC:25090
    See related
    Ensembl:ENSG00000164237 MIM:613379; AllianceGenome:HGNC:25090
    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
    JS-1
    Summary
    CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 [PubMed 20177059]).[supplied by OMIM, Apr 2010]
    Expression
    Biased expression in kidney (RPKM 81.9), duodenum (RPKM 43.0) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CMBL in Genome Data Viewer
    Location:
    5p15.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (10277595..10307902, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (10216896..10247204, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (10277707..10308014, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATP synthase c subunit lysine N-methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15916 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:10251320-10251542 Neighboring gene chaperonin containing TCP1 subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22352 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:10300268-10300444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10307292-10307792 Neighboring gene CRISPRi-validated cis-regulatory element chr5.702 Neighboring gene Sharpr-MPRA regulatory region 12783 Neighboring gene uncharacterized LOC105374651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10333367-10334122 Neighboring gene MARCHF6 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15920 Neighboring gene membrane associated ring-CH-type finger 6

    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. Nucleotide sequence and expression of clcD, a plasmid-borne dienelactone hydrolase gene from Pseudomonas sp. strain B13. Frantz B, et al. J Bacteriol, 1987 Feb. PMID 3804974, Free PMC Article
    2. Human carboxymethylenebutenolidase as a bioactivating hydrolase of olmesartan medoxomil in liver and intestine. Ishizuka T, et al. J Biol Chem, 2010 Apr 16. PMID 20177059, Free PMC Article
    3. Transforming capacity of two novel genes JS-1 and JS-2 located in chromosome 5p and their overexpression in human esophageal squamous cell carcinoma. Fatima S, et al. Int J Mol Med, 2006 Jan. PMID 16328025
    4. p53-responsive CMBL reprograms glucose metabolism and suppresses cancer development by destabilizing phosphofructokinase PFKP. Huang Y, et al. Cell Rep, 2023 Nov 28. PMID 37967006
    5. Glutamine Triggers Acetylation-Dependent Degradation of Glutamine Synthetase via the Thalidomide Receptor Cereblon. Nguyen TV, et al. Mol Cell, 2016 Mar 17. PMID 26990986, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. p53-responsive CMBL reprograms glucose metabolism and suppresses cancer development by destabilizing phosphofructokinase PFKP.
      Title: p53-responsive CMBL reprograms glucose metabolism and suppresses cancer development by destabilizing phosphofructokinase PFKP.
    2. By comparing the enzyme kinetics and chemical inhibition properties between the recombinant protein and tissue preparations, CMBL was shown to be the primary olmesartan medoxomil bioactivating enzyme in the liver and intestine.
      Title: Human carboxymethylenebutenolidase as a bioactivating hydrolase of olmesartan medoxomil in liver and intestine.
    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

    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

    Clone Names

    • FLJ23617

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    carboxymethylenebutenolidase homolog
    Names
    carboxymethylenebutenolidase homolog (Pseudomonas)
    carboxymethylenebutenolidase-like (Pseudomonas)
    NP_620164.1
    XP_047272670.1
    XP_047272671.1
    XP_047272672.1
    XP_047272673.1
    XP_047272674.1
    XP_054207588.1
    XP_054207589.1
    XP_054207590.1
    XP_054207591.1

    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_138809.4 → NP_620164.1  carboxymethylenebutenolidase homolog

      See identical proteins and their annotated locations for NP_620164.1

      Status: VALIDATED

      Source sequence(s)
      AC012640, BC001573, DA628493
      Consensus CDS
      CCDS3878.1
      UniProtKB/Swiss-Prot
      D3DTC7, Q8TED6, Q96DG6
      UniProtKB/TrEMBL
      B2RD36
      Related
      ENSP00000296658.3, ENST00000296658.4
      Conserved Domains (1) summary
      COG0412
      Location:30 → 245
      DLH; Dienelactone hydrolase [Secondary metabolites biosynthesis, transport and catabolism]

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      10277595..10307902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416714.1 → XP_047272670.1  carboxymethylenebutenolidase homolog isoform X1

      UniProtKB/Swiss-Prot
      D3DTC7, Q8TED6, Q96DG6

    2. XM_047416716.1 → XP_047272672.1  carboxymethylenebutenolidase homolog isoform X1

      UniProtKB/Swiss-Prot
      D3DTC7, Q8TED6, Q96DG6

    3. XM_047416717.1 → XP_047272673.1  carboxymethylenebutenolidase homolog isoform X1

      UniProtKB/Swiss-Prot
      D3DTC7, Q8TED6, Q96DG6

    4. XM_047416715.1 → XP_047272671.1  carboxymethylenebutenolidase homolog isoform X1

      UniProtKB/Swiss-Prot
      D3DTC7, Q8TED6, Q96DG6

    5. XM_047416718.1 → XP_047272674.1  carboxymethylenebutenolidase homolog isoform X1

      UniProtKB/Swiss-Prot
      D3DTC7, Q8TED6, Q96DG6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      10216896..10247204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351613.1 → XP_054207588.1  carboxymethylenebutenolidase homolog isoform X1

      UniProtKB/Swiss-Prot
      D3DTC7, Q8TED6, Q96DG6

    2. XM_054351616.1 → XP_054207591.1  carboxymethylenebutenolidase homolog isoform X1

      UniProtKB/Swiss-Prot
      D3DTC7, Q8TED6, Q96DG6

    3. XM_054351615.1 → XP_054207590.1  carboxymethylenebutenolidase homolog isoform X1

      UniProtKB/Swiss-Prot
      D3DTC7, Q8TED6, Q96DG6

    4. XM_054351614.1 → XP_054207589.1  carboxymethylenebutenolidase homolog isoform X1

      UniProtKB/Swiss-Prot
      D3DTC7, Q8TED6, Q96DG6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DG6.1 GenPept UniProtKB/Swiss-Prot:Q96DG6

    Gene LinkOut

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

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