1. Gene
  2. CMBL - carboxymethylenebutenolidase homolog Gene

CMBL - carboxymethylenebutenolidase homolog Gene

中文名称:羧亚甲基丁烯酸酶同系物

种属: Homo sapiens

同用名: JS-1

基因 ID: 134147 | 基因类型: protein coding

关于 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.

功能概要

CMBL (EC 3.1.1.45) 是二内酯水解酶家族的半胱氨酸水解酶,在肝细胞质中高度表达。 CMBL 优先裂解环酯,并激活 medoxomil 部分与氧原子连接的 medoxomil 酯前药 (Ishizuka 等人,2010 [PubMed 20177059]) 。[OMIM 提供,2010 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_138809.4 NP_620164.1 carboxymethylenebutenolidase homolog

CMBL 蛋白结构

DLH

DLH: Dienelactone hydrolase family (31 - 244)

  • 0
  • 100
  • 200
  • 245 a.a.
蛋白主名 其他名称

carboxymethylenebutenolidase homolog

carboxymethylenebutenolidase homolog (Pseudomonas)

重组 CMBL 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75679 CMBL Protein, Human (His) Q96DG6 (M1-M245) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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