CMA1 chymase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CMA1provided by HGNC
Official Full Name: chymase 1provided by HGNC
Primary source: HGNC:HGNC:2097
See related: Ensembl:ENSG00000092009 MIM:118938; AllianceGenome:HGNC:2097
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CYH; MCT1; chymase
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 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]
Expression: Biased expression in colon (RPKM 6.3), esophagus (RPKM 4.1) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (24505353..24508265, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (18704211..18707123, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (24974559..24977471, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human vascular smooth muscle cells utilise chymase for the atypical cleavage and activation of Interleukin-1beta.
Title: Human vascular smooth muscle cells utilise chymase for the atypical cleavage and activation of Interleukin-1β.
Recombinant SARS-CoV-2 Spike Protein Stimulates Secretion of Chymase, Tryptase, and IL-1beta from Human Mast Cells, Augmented by IL-33.
Title: Recombinant SARS-CoV-2 Spike Protein Stimulates Secretion of Chymase, Tryptase, and IL-1β from Human Mast Cells, Augmented by IL-33.
Increased Chymase-Positive Mast Cells in High-Grade Mucoepidermoid Carcinoma of the Parotid Gland.
Title: Increased Chymase-Positive Mast Cells in High-Grade Mucoepidermoid Carcinoma of the Parotid Gland.
Investigation into the Health Effects of Reduced Chymase Function Using Predicted Loss-of-Function Mutations in CMA1.
Title: Investigation into the Health Effects of Reduced Chymase Function Using Predicted Loss-of-Function Mutations in CMA1.
Chymase-positive Mast cells correlate with tumor angiogenesis: first report in pancreatic cancer patients.
Title: Chymase-positive Mast cells correlate with tumor angiogenesis: first report in pancreatic cancer patients.
Elevated salivary activity of mast cell chymase of periodontitis patients, and a new bradykinin generation cascade, mediating the cross-talks between mast cell and gingival fibroblast.
Title: Elevated salivary activity of mast cell chymase of periodontitis patients, and a new bradykinin generation cascade, mediating the cross-talks between mast cell and gingival fibroblast.
Increase in Chymase-Positive Mast Cells in Recurrent Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma of the Parotid Gland.
Title: Increase in Chymase-Positive Mast Cells in Recurrent Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma of the Parotid Gland.
The Angiotensin-(1-12)/Chymase axis as an alternate component of the tissue renin angiotensin system.
Title: The Angiotensin-(1-12)/Chymase axis as an alternate component of the tissue renin angiotensin system.
CMA1 is potent prognostic marker and associates with immune infiltration in gastric cancer.
Title: CMA1 is potent prognostic marker and associates with immune infiltration in gastric cancer.
Serum chymase levels correlate with severe dengue warning signs and clinical fluid accumulation in hospitalized pediatric patients.
Title: Serum chymase levels correlate with severe dengue warning signs and clinical fluid accumulation in hospitalized pediatric patients.

Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69168 (e-PCR)
- UniSTS:16657

GDB:185180 (e-PCR)
- UniSTS:155433

NoName (e-PCR)
- UniSTS:481333

CMA1-1 (e-PCR)
- UniSTS:510367

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	EXP Inferred from Experiment more info	PubMed
enables peptide binding	IEA Inferred from Electronic Annotation more info
enables serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables serine-type peptidase activity	EXP Inferred from Experiment more info	PubMed

Process	Evidence Code	Pubs
involved_in angiotensin maturation	TAS Traceable Author Statement more info
involved_in basement membrane disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in cytokine precursor processing	IDA Inferred from Direct Assay more info	PubMed
involved_in extracellular matrix disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in midbrain development	IEA Inferred from Electronic Annotation more info
involved_in peptide metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: chymase

Names: 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

NP_001295012.1

EC 3.4.21.39

NP_001827.1

EC 3.4.21.39

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001308083.2 → NP_001295012.1 chymase isoform 2

See identical proteins and their annotated locations for NP_001295012.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the 5' coding region, which results in use of a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AL132800, BC103974, DQ082729, HY275608

Consensus CDS

CCDS76666.1

UniProtKB/Swiss-Prot

P23946

UniProtKB/TrEMBL

Q4FEB3

Related

ENSP00000206446.4, ENST00000206446.4

Conserved Domains (2) summary

smart00020
Location:1 → 129

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:1 → 132

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_001836.5 → NP_001827.1 chymase isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001827.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL132800, BC069110, DQ082729, HY275608

Consensus CDS

CCDS9630.1

UniProtKB/Swiss-Prot

B5BUM8, P23946, Q16018, Q3SY36, Q3SY37, Q9UDH5

Related

ENSP00000250378.3, ENST00000250378.7

Conserved Domains (1) summary

cd00190
Location:22 → 243

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...