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CMA1 chymase 1 [ Homo sapiens (human) ]

Gene ID: 1215, updated on 12-Aug-2018

Summary

Official Symbol
CMA1provided by HGNC
Official Full Name
chymase 1provided by HGNC
Primary source
HGNC:HGNC:2097
See related
Ensembl:ENSG00000092009 MIM:118938; Vega:OTTHUMG00000140181
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

Genomic context

See CMA1 in Genome Data Viewer
Location:
14q12
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (24505355..24508265, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24974712..24977471, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene KH and NYN domain containing Neighboring gene uncharacterized LOC101927045 Neighboring gene short chain dehydrogenase/reductase family 39U member 1 Neighboring gene cathepsin G Neighboring gene granzyme H

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • ACE Inhibitor Pathway, organism-specific biosystem (from WikiPathways)
    ACE Inhibitor Pathway, organism-specific biosystemThe core of this pathway was elucidated over a century ago and involves the conversion of angiotensinogen to angiotensin I (Ang I) by renin, its subsequent conversion to angiotensin II (Ang II) by an...
  • Activation of Matrix Metalloproteinases, organism-specific biosystem (from REACTOME)
    Activation of Matrix Metalloproteinases, organism-specific biosystemThe matrix metalloproteinases (MMPs), previously known as matrixins, are classically known to be involved in the turnover of extracellular matrix (ECM) components. However, recent high throughput pro...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Lung fibrosis, organism-specific biosystem (from WikiPathways)
    Lung fibrosis, organism-specific biosystemLung fibrosis pathway linked to events (molecular initiating event, key events and associative events) in a putative Adverse Outcome Pathway for lung fibrosis.
  • Metabolism of Angiotensinogen to Angiotensins, organism-specific biosystem (from REACTOME)
    Metabolism of Angiotensinogen to Angiotensins, organism-specific biosystemAngiotensinogen, a prohormone, is synthesized and secreted mainly by the liver but also from other tissues (reviewed in Fyhrquist and Saijonmaa 2008, Cat and Touyz 2011). Renin, an aspartyl protease ...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
  • Renin-angiotensin system, organism-specific biosystem (from KEGG)
    Renin-angiotensin system, organism-specific biosystemThe renin-angiotensin system (RAS) is a peptidergic system with endocrine characteristics regarding to the regulation of the blood pressure and hydro-electrolytic balance. In the classical RAS, the ...
  • Renin-angiotensin system, conserved biosystem (from KEGG)
    Renin-angiotensin system, conserved biosystemThe renin-angiotensin system (RAS) is a peptidergic system with endocrine characteristics regarding to the regulation of the blood pressure and hydro-electrolytic balance. In the classical RAS, the ...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
    Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119890, MGC119891

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase activity EXP
Inferred from Experiment
more info
PubMed 
peptide binding IEA
Inferred from Electronic Annotation
more info
 
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
serine-type peptidase activity EXP
Inferred from Experiment
more info
PubMed 
Process Evidence Code Pubs
angiotensin maturation TAS
Traceable Author Statement
more info
 
basement membrane disassembly IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix disassembly IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
interleukin-1 beta biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
midbrain development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response IC
Inferred by Curator
more info
PubMed 

General protein information

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
NP_001827.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001308083.1NP_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)
    BC103974, DQ082729, HY275608
    Consensus CDS
    CCDS76666.1
    UniProtKB/Swiss-Prot
    P23946
    UniProtKB/TrEMBL
    Q4FEB3
    Related
    ENSP00000206446.4, OTTHUMP00000245743, ENST00000206446.4, OTTHUMT00000412823
    Conserved Domains (2) summary
    smart00020
    Location:1129
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:1132
    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 ...
  2. NM_001836.4NP_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)
    BC069110, DQ082729, HY275608
    Consensus CDS
    CCDS9630.1
    UniProtKB/Swiss-Prot
    P23946
    UniProtKB/TrEMBL
    Q4FEB3
    Related
    ENSP00000250378.3, OTTHUMP00000178751, ENST00000250378.7, OTTHUMT00000276535
    Conserved Domains (1) summary
    cd00190
    Location:22243
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    24505355..24508265 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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