CMA1 (chymase 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1215
Gene name Chymase 1
Gene symbol CMA1
Synonyms (NCBI Gene)
CYHMCT1chymase
Chromosome 14
Chromosome location 14q12
Summary 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (36)
GO ID Ontology Definition Evidence Reference
GO:0002003 Process Angiotensin maturation TAS
GO:0004175 Function Endopeptidase activity EXP 9256427, 12062105
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IDA 1919436
GO:0004252 Function Serine-type endopeptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
118938 2097 ENSG00000092009
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (11)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (155)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 26539827, 26563366, 28206968
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 28206968
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 31040927
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26539827
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 19789340, 29534146, 30790227
★★★★★
★☆☆☆☆
Found in Text Mining only
Alveolitis Extrinsic Allergic Extrinsic allergic alveolitis Pubtator 33016012 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alveolitis, Fibrosing Alveolitis CTD_human_DG 15297733
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 15255999
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26765963, 30355947
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 17957103
★★★★★
★☆☆☆☆
Found in Text Mining only