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Aliases for CMA1 Gene

Aliases for CMA1 Gene

  • Chymase 1 2 3 5
  • Mast Cell Protease I 3 4
  • Chymase 1, Mast Cell 2 3
  • Alpha-Chymase 3 4
  • Chymase 3 3
  • CYH 3 4
  • Chymase 1 Preproprotein Transcript E 3
  • Chymase 1 Preproprotein Transcript I 3
  • Chymase, Mast Cell 3
  • Chymase, Heart 3
  • EC 3.4.21.39 4
  • 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 ACE Inhibitor Pathway, Pharmacodynamics and Peptide hormone metabolism. Gene Ontology (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

Additional gene information for CMA1 Gene

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

Genomics for CMA1 Gene

GeneHancer (GH) Regulatory Elements for CMA1 Gene

Promoters and enhancers for CMA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J024508 Promoter 0.7 EPDnew 650.7 +0.4 405 0.1 EBF1 MAFK CMA1 ENSG00000258744
GH14J024212 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.5 +294.0 294002 4.9 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MDP1 CHMP4A ENSG00000254692 ENSG00000260669 RNA5SP383 TSSK4 RNF31 KHNYN IPO4 NGDN
GH14J024843 Enhancer 1 FANTOM5 ENCODE dbSUPER 18.2 -335.3 -335272 1.8 PKNOX1 ZNF687 ELF1 DPF2 ATF2 IKZF1 CREB1 ATF7 MLLT1 IKZF2 CMA1 STXBP6 CTSG DHRS4 PIR50915
GH14J024607 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 7.6 -100.9 -100898 3.7 ATF4 NR2C1 CEBPG NR2F6 TRIM24 NR2C2 GZMH GZMB CTSG CMA1 ENSG00000258744 KHNYN PIR56771 ENSG00000258657
GH14J024995 Enhancer 0.3 FANTOM5 29.4 -486.7 -486709 0.4 CMA1 CTSG STXBP6 GZMB PIR50915
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CMA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CMA1 gene promoter:
  • Nkx2-2
  • RREB-1
  • Meis-1a
  • Meis-1
  • HOXA9B
  • HOXA9
  • STAT3
  • C/EBPalpha
  • Spz1
  • ISGF-3

Genomic Locations for CMA1 Gene

Genomic Locations for CMA1 Gene
chr14:24,505,346-24,508,690
(GRCh38/hg38)
Size:
3,345 bases
Orientation:
Minus strand
chr14:24,974,559-24,977,471
(GRCh37/hg19)
Size:
2,913 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 posLast=103103 and posLast=8080
  • Modification sites at PhosphoSitePlus

Other Protein References for CMA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CMA1 Gene

Domains & Families for CMA1 Gene

Gene Families for CMA1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P23946

UniProtKB/Swiss-Prot:

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

Function for CMA1 Gene

Molecular function for CMA1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Preferential cleavage: Phe- -Xaa > Tyr- -Xaa > Trp- -Xaa > Leu- -Xaa.
GENATLAS Biochemistry:
chymase,mast cell,with a variant putatively involved in eczema

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 IDA,TAS --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity EXP 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

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CMA1 gene
Compartment Confidence
extracellular 5
lysosome 2
plasma membrane 1
cytoskeleton 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IDA --
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IBA --
GO:0030141 secretory granule IBA --
GO:0031012 extracellular matrix IDA 27559042
genes like me logo Genes that share ontologies with CMA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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: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

(14) 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
JNJ-10311795 Pharma 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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.

Evidence on tissue expression from TISSUES for CMA1 Gene

  • Heart(4.5)
  • Skin(4.5)
  • Liver(4.3)
  • Lung(2.6)
  • Bone marrow(2.5)
  • Blood(2.3)
  • Intestine(2.3)
  • Lymph node(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with CMA1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CMA1 Gene

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 33
  • 99.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CMA1 34 33
  • 83.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC100139881 33
  • 82.98 (n)
-- 34
  • 72 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cma1 16 34 33
  • 77.54 (n)
rat
(Rattus norvegicus)
Mammalia Cma1 33
  • 77.4 (n)
oppossum
(Monodelphis domestica)
Mammalia CMA1 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GZMB 34
  • 54 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves CMA1 34
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 38 (a)
OneToMany
-- 34
  • 37 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CMA1 (19 of 29) 34
  • 37 (a)
OneToMany
CMA1 (23 of 29) 34
  • 36 (a)
OneToMany
CMA1 (20 of 29) 34
  • 36 (a)
OneToMany
CMA1 (28 of 29) 34
  • 36 (a)
OneToMany
CMA1 (22 of 29) 34
  • 35 (a)
OneToMany
CMA1 (16 of 29) 34
  • 35 (a)
OneToMany
CMA1 (10 of 29) 34
  • 35 (a)
OneToMany
CMA1 (21 of 29) 34
  • 35 (a)
OneToMany
CMA1 (18 of 29) 34
  • 35 (a)
OneToMany
CMA1 (11 of 29) 34
  • 35 (a)
OneToMany
CMA1 (7 of 29) 34
  • 35 (a)
OneToMany
CMA1 (13 of 29) 34
  • 35 (a)
OneToMany
CMA1 (1 of 29) 34
  • 34 (a)
OneToMany
CMA1 (2 of 29) 34
  • 34 (a)
OneToMany
CMA1 (24 of 29) 34
  • 34 (a)
OneToMany
CMA1 (4 of 29) 34
  • 34 (a)
OneToMany
CMA1 (29 of 29) 34
  • 33 (a)
OneToMany
BX936298.1 34
  • 33 (a)
OneToMany
CMA1 (9 of 29) 34
  • 33 (a)
OneToMany
CMA1 (5 of 29) 34
  • 33 (a)
OneToMany
CMA1 (27 of 29) 34
  • 33 (a)
OneToMany
CMA1 (12 of 29) 34
  • 33 (a)
OneToMany
CMA1 (14 of 29) 34
  • 32 (a)
OneToMany
CMA1 (6 of 29) 34
  • 32 (a)
OneToMany
CMA1 (8 of 29) 34
  • 32 (a)
OneToMany
CMA1 (26 of 29) 34
  • 31 (a)
OneToMany
CMA1 (15 of 29) 34
  • 31 (a)
OneToMany
CMA1 (25 of 29) 34
  • 31 (a)
OneToMany
CMA1 (17 of 29) 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CMA1: view image

Paralogs for CMA1 Gene

Variants for CMA1 Gene

Sequence variations from dbSNP and Humsavar for CMA1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000638219 -- 24,507,697(-) C/T intron_variant
rs1000704967 -- 24,509,008(-) T/C upstream_transcript_variant
rs1001010276 -- 24,507,949(-) C/A intron_variant
rs1001312919 -- 24,510,243(-) A/G/T upstream_transcript_variant
rs1001361320 -- 24,504,864(-) C/T downstream_transcript_variant

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)

Additional Variant Information for CMA1 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, DISEASES, Novoseek, and GeneCards

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

Additional Disease Information for CMA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 WK … Morse JH (The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2009) 3 22 44 58
  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 EM … Ibraheim EM (Journal of investigational allergology & clinical immunology 2008) 3 22 44 58
  3. Chymase gene (CMA1) polymorphisms in Dutch and Japanese sarcoidosis patients. (PMID: 16446531) Kruit A … van den Bosch JM (Respiration; international review of thoracic diseases 2006) 3 22 44 58
  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 (Journal of human genetics 2005) 3 22 44 58
  5. Association study of mast cell chymase polymorphisms with atopy. (PMID: 16134991) Weidinger S … Illig T (Allergy 2005) 3 22 44 58

Products for CMA1 Gene

Sources for CMA1 Gene

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