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Aliases for CMA1 Gene

Aliases for CMA1 Gene

  • Chymase 1 2 3 5
  • Chymase 1, Mast Cell 2 3
  • Mast Cell Protease I 3 4
  • Alpha-Chymase 3 4
  • EC 3.4.21.39 4 61
  • CYH 3 4
  • Chymase 1 Preproprotein Transcript E 3
  • Chymase 1 Preproprotein Transcript I 3
  • Chymase, Mast Cell 3
  • Chymase, Heart 3
  • EC 3.4.21 61
  • Chymase 3
  • MCT1 3
  • CYM 4

External Ids for CMA1 Gene

Previous GeneCards Identifiers for CMA1 Gene

  • GC14M022347
  • GC14M018762
  • GC14M022964
  • GC14M024044
  • GC14M024974
  • GC14M005089

Summaries for CMA1 Gene

Entrez Gene Summary for CMA1 Gene

  • 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]

GeneCards Summary for CMA1 Gene

CMA1 (Chymase 1) is a Protein Coding gene. Diseases associated with CMA1 include Urticaria Pigmentosa and Urticaria. Among its related pathways are Matrix Metalloproteinases and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. GO annotations related to this gene include serine-type endopeptidase activity and peptide binding. An important paralog of this gene is GZMB.

UniProtKB/Swiss-Prot for CMA1 Gene

  • Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion.

Gene Wiki entry for CMA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMA1 Gene

Genomics for CMA1 Gene

Regulatory Elements for CMA1 Gene

Enhancers for CMA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F024995 0.9 FANTOM5 29.4 -486.7 -486709 0.4 CMA1 CTSG STXBP6 GZMB ENSG00000281282
GH14F024518 0.7 FANTOM5 27.2 -10.3 -10305 0.1 KAT2B CMA1 CTSG ENSG00000258744
GH14F024517 0.3 FANTOM5 19.8 -9.2 -9189 0.2 MAFK CTSG CMA1 GZMB ENSG00000258744
GH14F024843 0.9 FANTOM5 ENCODE 18.2 -335.3 -335272 1.8 PKNOX1 MTA2 ATF2 RAD51 SCRT2 IKZF1 NFYB MLLT1 SPI1 CMA1 STXBP6 CTSG DHRS4 PIR50915 ENSG00000281282
GH14F024212 0.2 ENCODE 14.1 +294.0 294003 4.9 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 HOMEZ MDP1 KHNYN CMA1 PABPN1 RNA5SP383 CTSG CIDEB LOC102724814 NFATC4
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CMA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CMA1 Gene

Chromosome:
14
Start:
24,505,346 bp from pter
End:
24,508,690 bp from pter
Size:
3,345 bases
Orientation:
Minus strand

Genomic View for CMA1 Gene

Genes around CMA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CMA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CMA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CMA1 Gene

Proteins for CMA1 Gene

  • Protein details for CMA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23946-CMA1_HUMAN
    Recommended name:
    Chymase
    Protein Accession:
    P23946
    Secondary Accessions:
    • B5BUM8
    • Q16018
    • Q3SY36
    • Q3SY37
    • Q9UDH5

    Protein attributes for CMA1 Gene

    Size:
    247 amino acids
    Molecular mass:
    27325 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CMA1 Gene

    Alternative splice isoforms for CMA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CMA1 Gene

Post-translational modifications for CMA1 Gene

  • Glycosylation at Asn 80 and Asn 103
  • Modification sites at PhosphoSitePlus

Other Protein References for CMA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for CMA1 Gene

Graphical View of Domain Structure for InterPro Entry

P23946

UniProtKB/Swiss-Prot:

CMA1_HUMAN :
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Granzyme subfamily.
Domain:
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family. Granzyme subfamily.
genes like me logo Genes that share domains with CMA1: view

No data available for Gene Families for CMA1 Gene

Function for CMA1 Gene

Molecular function for CMA1 Gene

GENATLAS Biochemistry:
chymase,mast cell,with a variant putatively involved in eczema
UniProtKB/Swiss-Prot CatalyticActivity:
Preferential cleavage: Phe- -Xaa > Tyr- -Xaa > Trp- -Xaa > Leu- -Xaa.
UniProtKB/Swiss-Prot Function:
Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion.

Enzyme Numbers (IUBMB) for CMA1 Gene

Gene Ontology (GO) - Molecular Function for CMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity EXP 9256427
GO:0004252 serine-type endopeptidase activity IEA,TAS --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity EXP,IEA 2266130
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CMA1: view
genes like me logo Genes that share phenotypes with CMA1: view

Animal Models for CMA1 Gene

MGI Knock Outs for CMA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CMA1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CMA1 Gene

Localization for CMA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CMA1 Gene

Secreted. Cytoplasmic granule. Note=Mast cell granules.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CMA1 Gene COMPARTMENTS Subcellular localization image for CMA1 gene
Compartment Confidence
extracellular 5
lysosome 2
vacuole 2
cytoskeleton 1
cytosol 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005737 cytoplasm IBA --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with CMA1: view

Pathways & Interactions for CMA1 Gene

genes like me logo Genes that share pathways with CMA1: view

Gene Ontology (GO) - Biological Process for CMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002003 angiotensin maturation TAS --
GO:0006508 proteolysis IEA --
GO:0006518 peptide metabolic process IEA --
GO:0006955 immune response IBA --
GO:0016485 protein processing IBA --
genes like me logo Genes that share ontologies with CMA1: view

No data available for SIGNOR curated interactions for CMA1 Gene

Drugs & Compounds for CMA1 Gene

(15) Drugs for CMA1 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[(1S)-1-(5-CHLORO-1-BENZOTHIEN-3-YL)-2-(2-NAPHTHYLAMINO)-2-OXOETHYL]PHOSPHONIC ACID Experimental Pharma Target 0
2-(N-Morpholino)-Ethanesulfonic Acid Experimental Pharma Target 0
2-[3-({Methyl[1-(2-Naphthoyl)Piperidin-4-Yl]Amino}Carbonyl)-2-Naphthyl]-1-(1-Naphthyl)-2-Oxoethylphosphonic Acid Experimental Pharma Target 0
Benzylsulfinic Acid Experimental Pharma Target 0
Phenylalanylmethane Experimental Pharma Target 0

(4) Additional Compounds for CMA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CMA1: view

Transcripts for CMA1 Gene

mRNA/cDNA for CMA1 Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CMA1 Gene

Chymase 1, mast cell:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CMA1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
SP1:
SP2: -

Relevant External Links for CMA1 Gene

GeneLoc Exon Structure for
CMA1
ECgene alternative splicing isoforms for
CMA1

Expression for CMA1 Gene

mRNA expression in normal human tissues for CMA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CMA1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x8.0), Skin - Not Sun Exposed (Suprapubic) (x6.3), Adipose - Subcutaneous (x5.9), and Esophagus - Muscularis (x4.1).

Protein differential expression in normal tissues from HIPED for CMA1 Gene

This gene is overexpressed in Rectum (16.2), Urinary Bladder (10.7), Colon (8.8), and Gallbladder (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CMA1 Gene



Protein tissue co-expression partners for CMA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CMA1 Gene:

CMA1

SOURCE GeneReport for Unigene cluster for CMA1 Gene:

Hs.135626

mRNA Expression by UniProt/SwissProt for CMA1 Gene:

P23946-CMA1_HUMAN
Tissue specificity: Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions.
genes like me logo Genes that share expression patterns with CMA1: view

Primer Products

Orthologs for CMA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CMA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CMA1 34 35
  • 99.06 (n)
dog
(Canis familiaris)
Mammalia CMA1 34 35
  • 83.76 (n)
cow
(Bos Taurus)
Mammalia LOC100139881 34
  • 82.98 (n)
-- 35
  • 72 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cma1 34 16 35
  • 77.54 (n)
rat
(Rattus norvegicus)
Mammalia Cma1 34
  • 77.4 (n)
oppossum
(Monodelphis domestica)
Mammalia CMA1 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GZMB 35
  • 54 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves CMA1 35
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 38 (a)
OneToMany
-- 35
  • 37 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CMA1 (19 of 29) 35
  • 37 (a)
OneToMany
CMA1 (20 of 29) 35
  • 36 (a)
OneToMany
CMA1 (23 of 29) 35
  • 36 (a)
OneToMany
CMA1 (28 of 29) 35
  • 36 (a)
OneToMany
CMA1 (10 of 29) 35
  • 35 (a)
OneToMany
CMA1 (11 of 29) 35
  • 35 (a)
OneToMany
CMA1 (13 of 29) 35
  • 35 (a)
OneToMany
CMA1 (16 of 29) 35
  • 35 (a)
OneToMany
CMA1 (18 of 29) 35
  • 35 (a)
OneToMany
CMA1 (21 of 29) 35
  • 35 (a)
OneToMany
CMA1 (22 of 29) 35
  • 35 (a)
OneToMany
CMA1 (7 of 29) 35
  • 35 (a)
OneToMany
CMA1 (1 of 29) 35
  • 34 (a)
OneToMany
CMA1 (2 of 29) 35
  • 34 (a)
OneToMany
CMA1 (24 of 29) 35
  • 34 (a)
OneToMany
CMA1 (4 of 29) 35
  • 34 (a)
OneToMany
BX936298.1 35
  • 33 (a)
OneToMany
CMA1 (12 of 29) 35
  • 33 (a)
OneToMany
CMA1 (27 of 29) 35
  • 33 (a)
OneToMany
CMA1 (29 of 29) 35
  • 33 (a)
OneToMany
CMA1 (5 of 29) 35
  • 33 (a)
OneToMany
CMA1 (9 of 29) 35
  • 33 (a)
OneToMany
CMA1 (14 of 29) 35
  • 32 (a)
OneToMany
CMA1 (6 of 29) 35
  • 32 (a)
OneToMany
CMA1 (8 of 29) 35
  • 32 (a)
OneToMany
CMA1 (15 of 29) 35
  • 31 (a)
OneToMany
CMA1 (25 of 29) 35
  • 31 (a)
OneToMany
CMA1 (26 of 29) 35
  • 31 (a)
OneToMany
CMA1 (17 of 29) 35
  • 30 (a)
OneToMany
Species where no ortholog for CMA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CMA1 Gene

ENSEMBL:
Gene Tree for CMA1 (if available)
TreeFam:
Gene Tree for CMA1 (if available)

Paralogs for CMA1 Gene

Variants for CMA1 Gene

Sequence variations from dbSNP and Humsavar for CMA1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs10135806 -- 24,507,000(+) GACCC(G/T)GAGAA intron-variant
rs10138131 -- 24,505,206(+) CCCCC(A/C)CATAC downstream-variant-500B
rs10140250 -- 24,505,757(+) CAGAC(C/G)CAGGA intron-variant
rs10220622 -- 24,507,764(+) CCCAC(C/T)CTCCT intron-variant
rs113580766 -- 24,508,930(+) AAGAG(A/C)AATTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CMA1 Gene

Variant ID Type Subtype PubMed ID
dgv128n21 CNV gain 19592680
dgv1854n100 CNV gain 25217958
esv2761824 CNV gain 21179565
esv3633808 CNV loss 21293372
nsv1045732 CNV gain 25217958
nsv511031 OTHER complex 20534489
nsv564062 CNV gain 21841781

Variation tolerance for CMA1 Gene

Residual Variation Intolerance Score: 92.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.50; 43.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CMA1 Gene

Human Gene Mutation Database (HGMD)
CMA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMA1 Gene

Disorders for CMA1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for CMA1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
urticaria pigmentosa
  • up/mpcm
urticaria
mast cell neoplasm
  • mast cell proliferative disease
alpha-1-antichymotrypsin deficiency
  • alpha-1-antichymotrypsin
cold urticaria
  • cold contact urticaria
- elite association - COSMIC cancer census association via MalaCards
Search CMA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CMA1

Genetic Association Database (GAD)
CMA1
Human Genome Epidemiology (HuGE) Navigator
CMA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CMA1
genes like me logo Genes that share disorders with CMA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CMA1 Gene

Publications for CMA1 Gene

  1. Polymorphism in the angiotensin II type 1 receptor (AGTR1) is associated with age at diagnosis in pulmonary arterial hypertension. (PMID: 19332265) Chung W.K. … Morse J.H. (J. Heart Lung Transplant. 2009) 3 22 46 64
  2. Association of polymorphisms in the mast cell chymase gene promoter region (-1903 g/A) and (TG)n(GA)m repeat downstream of the gene with bronchial asthma in children. (PMID: 18973102) Hossny E.M. … Ibraheim E.M. (J Investig Allergol Clin Immunol 2008) 3 22 46 64
  3. Chymase gene (CMA1) polymorphisms in Dutch and Japanese sarcoidosis patients. (PMID: 16446531) Kruit A. … van den Bosch J.M. (Respiration 2006) 3 22 46 64
  4. A novel (TG)n(GA)m repeat polymorphism 254 bp downstream of the mast cell chymase (CMA1) gene is associated with atopic asthma and total serum IgE levels. (PMID: 15924217) Sharma S. … Ghosh B. (J. Hum. Genet. 2005) 3 22 46 64
  5. Association study of mast cell chymase polymorphisms with atopy. (PMID: 16134991) Weidinger S. … Illig T. (Allergy 2005) 3 22 46 64

Products for CMA1 Gene

Sources for CMA1 Gene

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