CMA1 (chymase 1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1215
Gene name Gene Name - the full gene name approved by the HGNC.
Chymase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CMA1
Synonyms (NCBI Gene) Gene synonyms aliases
CYH, MCT1, chymase
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q12
Summary Summary 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 gene
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
118938 2097 ENSG00000092009
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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 , 7H60 , 7H61 , 7H62 , 7H63 , 7H64 , 7H65 , 7H66 , 7H67 , 7H68 , 7H69 , 7H6A , 7H6B , 7H6C , 7H6D , 7H6E , 7H6F , 7H6I , 9GBH , 9GC1 , 9GC9 , 9GCC , 9GCD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 22 → 240 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. {ECO:0000269|PubMed:8144971}.
Sequence
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Renin-angiotensin system
Diabetic cardiomyopathy 		  Signaling by SCF-KIT
Activation of Matrix Metalloproteinases
Metabolism of Angiotensinogen to Angiotensins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Hypertension Hypertensive disease rs13306026 14620933
Left ventricular hypertrophy Left Ventricular Hypertrophy rs397516037 14620933
Pulmonary fibrosis Pulmonary Fibrosis rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899
View all (1 more)		 15297733
Show/Hide Text Mining Associations (67)
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Pleomorphic Associate 34884420
Alveolitis Extrinsic Allergic Associate 33016012
Aortic Valve Stenosis Associate 24823657
Arthritis Rheumatoid Stimulate 33882986
Asthma Associate 18973102, 34331992, 35779668
Atherosclerosis Associate 9846640
Atrial Fibrillation Associate 31888494
Atrial Remodeling Associate 31888494
Blister Associate 22991566
Breast Neoplasms Associate 28315938