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Gene id

1215

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CMA1 Gene UCSC Ensembl

Aliases

CYH, MCT1, chymase

Gene name

chymase 1

Alternate names

chymase, alpha-chymase, chymase 1 preproprotein transcript E, chymase 1 preproprotein transcript I, chymase 1, mast cell, chymase, heart, chymase, mast cell, mast cell protease I,

Gene location

14q12 (24508264: 24505354) Exons: 5 NC_000014.9

Gene summary(Entrez)

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]

OMIM

118938

Protein Summary

Protein general information

P23946

Name: Chymase (EC 3.4.21.39) (Alpha chymase) (Mast cell protease I)

Length: 247 Mass: 27,325

Tissue specificity: Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. {ECO

Sequence

MLLLPLPLLLFLLCSRAEAGEIIGGTECKPHSRPYMAYLEIVTSNGPSKFCGGFLIRRNFVLTAAHCAGRSITVT
LGAHNITEEEDTWQKLEVIKQFRHPKYNTSTLHHDIMLLKLKEKASLTLAVGTLPFPSQFNFVPPGRMCRVAGWG
RTGVLKPGSDTLQEVKLRLMDPQACSHFRDFDHNLQLCVGNPRKTKSAFKGDSGGPLLCAGVAQGIVSYGRSDAK
PPAVFTRISHYRPWINQILQAN

Structural information

Protein Domains	Peptidase (22-245)
Interpro:	IPR009003 IPR001314 IPR001254 IPR018114 IPR033116
Prosite:	PS50240 PS00134 PS00135
Pfam:	PF00089
CDD:	cd00190
PDB:	1KLT 1NN6 1PJP 1T31 2HVX 3N7O 3S0N 4AFQ 4AFS 4AFU 4AFZ 4AG1 4AG2 4K2Y 4K5Z 4K60 4K69 4KP0
PDBsum:	1KLT 1NN6 1PJP 1T31 2HVX 3N7O 3S0N 4AFQ 4AFS 4AFU 4AFZ 4AG1 4AG2 4K2Y 4K5Z 4K60 4K69 4KP0
STRING:	ENSP00000250378;

Other Databases

GeneCards: CMA1; Malacards: CMA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002003	angiotensin maturation	TAS	biological_process
GO:0004175	endopeptidase activity	EXP	molecular_function
GO:0004175	endopeptidase activity	EXP	molecular_function
GO:0004252	serine-type endopeptidase activity	IDA	molecular_function
GO:0004252	serine-type endopeptidase activity	NAS	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005737	cytoplasm	IBA	cellular_component
GO:0006955	immune response	IBA	biological_process
GO:0008236	serine-type peptidase act ivity	EXP	molecular_function
GO:0008236	serine-type peptidase act ivity	EXP	molecular_function
GO:0016485	protein processing	IBA	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030901	midbrain development	IEA	biological_process
GO:0042277	peptide binding	IEA	molecular_function
GO:0043231	intracellular membrane-bo unded organelle	IBA	cellular_component
GO:0045766	positive regulation of an giogenesis	IEA	biological_process
GO:0050720	interleukin-1 beta biosyn thetic process	IDA	biological_process
GO:0050727	regulation of inflammator y response	IC	biological_process
GO:0071333	cellular response to gluc ose stimulus	IEA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0002003	angiotensin maturation	TAS	biological_process
GO:0004175	endopeptidase activity	EXP	molecular_function
GO:0004175	endopeptidase activity	EXP	molecular_function
GO:0004252	serine-type endopeptidase activity	IEA	molecular_function
GO:0004252	serine-type endopeptidase activity	IEA	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0004252	serine-type endopeptidase activity	IDA	molecular_function
GO:0004252	serine-type endopeptidase activity	NAS	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005737	cytoplasm	IBA	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006518	peptide metabolic process	IEA	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0008233	peptidase activity	IEA	molecular_function
GO:0008236	serine-type peptidase act ivity	IEA	molecular_function
GO:0008236	serine-type peptidase act ivity	EXP	molecular_function
GO:0008236	serine-type peptidase act ivity	TAS	molecular_function
GO:0008236	serine-type peptidase act ivity	EXP	molecular_function
GO:0016485	protein processing	IBA	biological_process
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030901	midbrain development	IEA	biological_process
GO:0042277	peptide binding	IEA	molecular_function
GO:0043231	intracellular membrane-bo unded organelle	IBA	cellular_component
GO:0045766	positive regulation of an giogenesis	IEA	biological_process
GO:0050720	interleukin-1 beta biosyn thetic process	IDA	biological_process
GO:0050727	regulation of inflammator y response	IC	biological_process
GO:0071333	cellular response to gluc ose stimulus	IEA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0002003	angiotensin maturation	TAS	biological_process
GO:0004175	endopeptidase activity	EXP	molecular_function
GO:0004175	endopeptidase activity	EXP	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0004252	serine-type endopeptidase activity	IDA	molecular_function
GO:0004252	serine-type endopeptidase activity	NAS	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005737	cytoplasm	IBA	cellular_component
GO:0006955	immune response	IBA	biological_process
GO:0008236	serine-type peptidase act ivity	EXP	molecular_function
GO:0008236	serine-type peptidase act ivity	TAS	molecular_function
GO:0008236	serine-type peptidase act ivity	EXP	molecular_function
GO:0016485	protein processing	IBA	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IBA	cellular_component
GO:0050720	interleukin-1 beta biosyn thetic process	IDA	biological_process
GO:0050727	regulation of inflammator y response	IC	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component

KEGG pathways

hsa04614 Renin-angiotensin system

Diseases

Associated diseases	References
Asthma	PMID: 10830912
Atherosclerosis	PMID: 11696688
Atopic dermatitis	PMID: 10550754
Cancer	PMID: 17035401
Dermatitis	PMID: 18973102
Diabetes	PMID: 11303326
Endometriosis	PMID: 25201101
Glaucoma	PMID: 15914614
Kidney disease	PMID: 19520069
Nephropathy	PMID: 11096141
Retinopathy	PMID: 11303326
sarcoidosis	PMID: 16446531
Endometriosis	INFBASE25201101

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25201101	Endometrio sis			28 (18 women wi th abdominal wa ll endometriosi s,10 women with out endometrios is)		ANXA1 CMA1 FPR1 TPSAB1	Show abstract