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CMBL carboxymethylenebutenolidase homolog [ Homo sapiens (human) ]

Gene ID: 134147, updated on 7-Apr-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
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Genomic context

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Location:
5p15.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (10277595..10307902, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (10216896..10247204, complement)
105.20220307 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. 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
  2. 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
  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. 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
  5. Proteomic dissection of cell type-specific H2AX-interacting protein complex associated with hepatocellular carcinoma. Yang X, et al. J Proteome Res, 2010 Mar 5. PMID 20000738, Free PMC Article

See all (35) 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)

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

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_2023_10

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

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