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Aliases for CMA1 Gene

Aliases for CMA1 Gene

  • Chymase 1, Mast Cell 2 3
  • 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 product is a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and 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. Angiotensin II has been implicated in blood pressure control and in the pathogenesis of hypertension, cardiac hypertrophy, and heart failure. Thus, this gene product is a target for cardiovascular disease therapies. This gene maps to 14q11.2 in a cluster of genes encoding other proteases. [provided by RefSeq, Jul 2008]

GeneCards Summary for CMA1 Gene

CMA1 (Chymase 1, Mast Cell) is a Protein Coding gene. Diseases associated with CMA1 include idiopathic interstitial pneumonia and vernal keratoconjunctivitis. Among its related pathways are PI-3K cascade 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

Start:
24,505,353 bp from pter
End:
24,508,265 bp from pter
Size:
2,913 bases
Orientation:
Minus strand

Genomic View for CMA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn80 and Asn103
  • Modification sites at PhosphoSitePlus

Other Protein References for CMA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CMA1 Gene

Graphical View of Domain Structure for InterPro Entry

P23946

UniProtKB/Swiss-Prot:

CMA1_HUMAN :
  • P23946
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:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity NAS 8144971
GO:0008236 serine-type peptidase activity TAS 2071582
GO:0042277 peptide binding IEA --
genes like me logo Genes that share ontologies with CMA1: view

Phenotypes for CMA1 Gene

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

Animal Models for CMA1 Gene

MGI Knock Outs for CMA1:

No data available for miRNA , Transcription Factor Targeting 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 3
vacuole 2
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 TAS --
GO:0005615 extracellular space IBA --
GO:0005622 intracellular IEA --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with CMA1: view

Pathways 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 --
GO:0006518 peptide metabolic process --
GO:0016485 protein processing IBA --
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with CMA1: view

Compounds for CMA1 Gene

(2) HMDB Compounds for CMA1 Gene

Compound Synonyms Cas Number PubMed IDs
Kinetensin 1-7
  • Ile-Ala-Arg-Arg-His-Pro-Tyr
34273-10-4
Kinetensin 4-7
  • Arg-His-Pro-Tyr
34273-10-4

(12) Novoseek inferred chemical compound relationships for CMA1 Gene

Compound -log(P) Hits PubMed IDs
scca1 86.7 4
chymostatin 80.3 1
serine 72 27
heparin 41.1 3
histamine 38.9 3
genes like me logo Genes that share compounds with CMA1: view

Transcripts for CMA1 Gene

mRNA/cDNA for CMA1 Gene

(10) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(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) (8.0), Skin - Not Sun Exposed (Suprapubic) (6.3), Adipose - Subcutaneous (5.9), and Esophagus - Muscularis (4.1).

Integrated Proteomics: protein expression 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 expressions with CMA1: view

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 35
  • 99.06 (n)
  • 98.38 (a)
CMA1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 71 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
LOC100139881 35
  • 82.98 (n)
  • 76.39 (a)
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
oppossum
(Monodelphis domestica)
Mammalia CMA1 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
OneToMany
GZMB 36
  • 54 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cma1 35
  • 77.4 (n)
  • 73.39 (a)
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 MAF
rs5244 -- 24,508,388(-) ACTTC(C/T)GATCA upstream-variant-2KB
rs5245 -- 24,508,295(+) TTATA(A/T)CTCCC upstream-variant-2KB
rs5246 - 24,507,429(-) CCAAC(C/G)GTCCC missense, reference
rs5247 - 24,507,368(-) TGCTC(A/G)TTGTG reference, missense
rs5248 -- 24,506,608(-) TCACA(A/G)CAGGT intron-variant

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

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

(6) University of Copenhagen DISEASES for CMA1 Gene

(17) Novoseek inferred disease relationships for CMA1 Gene

Disease -log(P) Hits PubMed IDs
keratoconjunctivitis vernal 58.9 1
dermatitis atopic 49.5 7
mastocytoma 45.1 2
dermatitis 40.4 2
eczema 39.3 5

Relevant External Links for CMA1

Genetic Association Database (GAD)
CMA1
Human Genome Epidemiology (HuGE) Navigator
CMA1
genes like me logo Genes that share disorders with CMA1: view

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

Publications for CMA1 Gene

  1. Structure, chromosomal assignment, and deduced amino acid sequence of a human gene for mast cell chymase. (PMID: 2071582) Caughey G.H. … Vanderslice P. (J. Biol. Chem. 1991) 3 4 23
  2. Cloning of the gene and cDNA for human heart chymase. (PMID: 1894611) Urata H. … Husain A. (J. Biol. Chem. 1991) 3 4 23
  3. 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
  4. 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
  5. 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 23 48

Products for CMA1 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate CMA1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for CMA1
    • Block miRNA regulation of CMA1 using miScript Target Protectors

    Sources for CMA1 Gene

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