CMBL - carboxymethylenebutenolidase homolog Gene

Also Known as JS-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 134147

About CMBL

Cytogenetic location: 5p15.2 Genomic coordinates (GRCh38): 5:10,277,595-10,307,902 (from NCBI)

This gene has 7 transcripts (splice variants) and 227 orthologues. Biased expression in kidney (RPKM 81.9), duodenum (RPKM 43.0) and 10 other tissues.

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]

CMBL Products (1)

mRNA Protein Name
NM_138809.4 NP_620164.1 carboxymethylenebutenolidase homolog

CMBL Protein Structure

DLH

DLH: Dienelactone hydrolase family (31 - 244)

  • 0
  • 100
  • 200
  • 245 a.a.
Protein Preferred Names Protein Names

carboxymethylenebutenolidase homolog

  • carboxymethylenebutenolidase homolog (Pseudomonas)

Recombinant CMBL Proteins

Cat. No. Product Name Accession Purity
HY-P75679 CMBL Protein, Human (His) Q96DG6 (M1-M245) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Breast Fibrosarcoma
  • Fibrosarcoma Of The Breast

Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
  • MRD44

  • Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome

  • Autosomal Dominant Non-Syndromic Intellectual Disability 44

  • Mental Retardation, Autosomal Dominant 44

  • Autosomal Dominant Intellectual Developmental Disorder 44

  • Autosomal Dominant Intellectual Developmental Disorder 44 With Microcephaly

  • Autosomal Dominant Mental Retardation 44

  • Mental Retardation, Autosomal Dominant, Type 44

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CMBL MGD MGI:1916824
Canis familiaris CMBL VGNC VGNC:39376
Rattus norvegicus CMBL RGD RGD:1306952
Felis catus CMBL VGNC VGNC:60994
Bos taurus CMBL VGNC VGNC:27477
Macaca mulatta CMBL VGNC VGNC:71344
Others CMBL NCBI