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CMA1 (chymase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1215
Gene nameGene Name - the full gene name approved by the HGNC.
Chymase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CMA1
SynonymsGene synonyms aliases
CYH, MCT1, chymase
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q12
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants. [provided by RefSeq, Apr 2015]
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002003 Process Angiotensin maturation TAS
GO:0004252 Function Serine-type endopeptidase activity IDA 1919436
GO:0004252 Function Serine-type endopeptidase activity NAS 8144971
GO:0005576 Component Extracellular region HDA 27068509
GO:0005576 Component Extracellular region TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P23946
Protein name Chymase (EC 3.4.21.39) (Alpha-chymase) (Mast cell protease I)
Protein function Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion.
PDB 1KLT , 1NN6 , 1PJP , 1T31 , 2HVX , 3N7O , 3S0N , 4AFQ , 4AFS , 4AFU , 4AFZ , 4AG1 , 4AG2 , 4K2Y , 4K5Z , 4K60 , 4K69 , 4KP0 , 5YJM , 5YJP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin
22 240
Trypsin
Domain
Sequence
Sequence length 247
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Renin-angiotensin system   Signaling by SCF-KIT
Activation of Matrix Metalloproteinases
Metabolism of Angiotensinogen to Angiotensins
Associated diseases
Disease name Disease term References
Alveolitis, Fibrosing
Hypertensive disease
Left Ventricular Hypertrophy
Pulmonary Fibrosis

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