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    CMA1 chymase 1 [ Homo sapiens (human) ]

    Gene ID: 1215, updated on 8-Apr-2018
    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
    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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    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 IBA
    Inferred from Biological aspect of Ancestor
    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
     
    immune response IBA
    Inferred from Biological aspect of Ancestor
    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
     
    protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of inflammatory response IC
    Inferred by Curator
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with extracellular matrix HDA PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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

    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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