1. Gene
  2. CMBL - carboxymethylenebutenolidase homolog Gene

CMBL - carboxymethylenebutenolidase homolog Gene

Homo sapiens

Also known as JS-1

Gene ID: 134147 | Gene type: protein coding

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%

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