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Aliases for CMA1 Gene

Aliases for CMA1 Gene

  • Chymase 1 2 3
  • Chymase 1, Mast Cell 2 3 5
  • Mast Cell Protease I 3 4
  • Alpha-Chymase 3 4
  • EC 3.4.21.39 4 63
  • 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 63
  • 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 mast cell neoplasm. Among its related pathways are Degradation of the extracellular matrix and Signaling by GPCR. GO annotations related to this gene include serine-type endopeptidase activity and peptide binding. An important paralog of this gene is ELANE.

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

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

Proteomics data for CMA1 Gene at MOPED

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

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

Animal Models for CMA1 Gene

MGI Knock Outs for CMA1:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for CMA1 Gene

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:0006955 immune response IBA --
GO:0016485 protein processing IBA --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0030901 midbrain development IEA --
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: Novoseek, DrugBank, and DGIdb

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

(3) 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:

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



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

Protein tissue co-expression partners for CMA1 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia LOC100139881 35
  • 82.98 (n)
  • 76.39 (a)
-- 36
  • 71 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CMA1 35
  • 83.76 (n)
  • 82.48 (a)
CMA1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cma1 35
  • 77.54 (n)
  • 74.68 (a)
Cma1 16
Cma1 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CMA1 35
  • 99.06 (n)
  • 98.38 (a)
CMA1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cma1 35
  • 77.4 (n)
  • 73.39 (a)
oppossum
(Monodelphis domestica)
Mammalia CMA1 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
OneToMany
GZMB 36
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves CMA1 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 38 (a)
OneToMany
-- 36
  • 37 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii BX936298.1 36
  • 33 (a)
OneToMany
CMA1 (1 of 29) 36
  • 34 (a)
OneToMany
CMA1 (10 of 29) 36
  • 35 (a)
OneToMany
CMA1 (11 of 29) 36
  • 35 (a)
OneToMany
CMA1 (12 of 29) 36
  • 33 (a)
OneToMany
CMA1 (13 of 29) 36
  • 35 (a)
OneToMany
CMA1 (14 of 29) 36
  • 32 (a)
OneToMany
CMA1 (15 of 29) 36
  • 31 (a)
OneToMany
CMA1 (16 of 29) 36
  • 35 (a)
OneToMany
CMA1 (17 of 29) 36
  • 30 (a)
OneToMany
CMA1 (18 of 29) 36
  • 35 (a)
OneToMany
CMA1 (19 of 29) 36
  • 37 (a)
OneToMany
CMA1 (2 of 29) 36
  • 34 (a)
OneToMany
CMA1 (20 of 29) 36
  • 36 (a)
OneToMany
CMA1 (21 of 29) 36
  • 35 (a)
OneToMany
CMA1 (22 of 29) 36
  • 35 (a)
OneToMany
CMA1 (23 of 29) 36
  • 36 (a)
OneToMany
CMA1 (24 of 29) 36
  • 34 (a)
OneToMany
CMA1 (25 of 29) 36
  • 31 (a)
OneToMany
CMA1 (26 of 29) 36
  • 31 (a)
OneToMany
CMA1 (27 of 29) 36
  • 33 (a)
OneToMany
CMA1 (28 of 29) 36
  • 36 (a)
OneToMany
CMA1 (29 of 29) 36
  • 33 (a)
OneToMany
CMA1 (4 of 29) 36
  • 34 (a)
OneToMany
CMA1 (5 of 29) 36
  • 33 (a)
OneToMany
CMA1 (6 of 29) 36
  • 32 (a)
OneToMany
CMA1 (7 of 29) 36
  • 35 (a)
OneToMany
CMA1 (8 of 29) 36
  • 32 (a)
OneToMany
CMA1 (9 of 29) 36
  • 33 (a)
OneToMany
Species with no ortholog for CMA1:
  • 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

Paralogs for CMA1 Gene

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

Variants for CMA1 Gene

Sequence variations from dbSNP and Humsavar for CMA1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs5246 - 24,507,429(-) CCAAC(A/C/G)GTCCC intron-variant, reference, missense
rs5247 - 24,507,368(-) TGCTC(A/G)TTGTG intron-variant, reference, missense
rs13306252 - 24,506,521(-) ATTCC(A/G)TCATC reference, missense, utr-variant-5-prime
rs5244 -- 24,508,388(-) ACTTC(C/T)GATCA upstream-variant-2KB, utr-variant-5-prime
rs5245 -- 24,508,295(+) TTATA(A/T)CTCCC upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv128n21 CNV Gain 19592680
nsv511031 CNV Complex 20534489

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

HapMap Linkage Disequilibrium report
CMA1
Human Gene Mutation Database (HGMD)
CMA1

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

Disorders for CMA1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
urticaria pigmentosa
  • up/mpcm
mast cell neoplasm
  • mast cell proliferative disease
alpha-1-antichymotrypsin deficiency
  • antichymotrypsin deficiency-alpha-1
cold urticaria
  • cold contact urticaria
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 of the mast cell chymase gene (CMA1) promoter region: lack of association with asthma but association with serum total immunoglobulin E levels in adult atopic dermatitis. (PMID: 15248847) Iwanaga T. … Holloway J.W. (Clin. Exp. Allergy 2004) 3 23 48 67
  2. The human mast cell chymase gene (CMA1): mapping to the cathepsin G/granzyme gene cluster and lineage-restricted expression. (PMID: 8468056) Caughey G.H. … Ley T.J. (Genomics 1993) 2 3 23
  3. Arg143 and Lys192 of the human mast cell chymase mediate the preference for acidic amino acids in position P2' of substrates. (PMID: 20423454) Andersson M.K. … Hellman L. (FEBS J. 2010) 3 23
  4. 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 23
  5. Alpha 2-macroglobulin capture allows detection of mast cell chymase in serum and creates a reservoir of angiotensin II-generating activity. (PMID: 19380825) Raymond W.W. … Caughey G.H. (J. Immunol. 2009) 3 23

Products for CMA1 Gene

Sources for CMA1 Gene

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