Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CMA1 (chymase 1)

Identity

Alias_nameschymase 1
Other aliasCYH
MCT1
chymase
HGNC (Hugo) CMA1
LocusID (NCBI) 1215
Atlas_Id 46327
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 24974561 and ends at 24977471 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CMA1   2097
Cards
Entrez_Gene (NCBI)CMA1  1215  chymase 1
AliasesCYH; MCT1; chymase
GeneCards (Weizmann)CMA1
Ensembl hg19 (Hinxton)ENSG00000092009 [Gene_View]  chr14:24974561-24977471 [Contig_View]  CMA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000092009 [Gene_View]  chr14:24974561-24977471 [Contig_View]  CMA1 [Vega]
ICGC DataPortalENSG00000092009
TCGA cBioPortalCMA1
AceView (NCBI)CMA1
Genatlas (Paris)CMA1
WikiGenes1215
SOURCE (Princeton)CMA1
Genetics Home Reference (NIH)CMA1
Genomic and cartography
GoldenPath hg19 (UCSC)CMA1  -     chr14:24974561-24977471 -  14q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CMA1  -     14q12   [Description]    (hg38-Dec_2013)
EnsemblCMA1 - 14q12 [CytoView hg19]  CMA1 - 14q12 [CytoView hg38]
Mapping of homologs : NCBICMA1 [Mapview hg19]  CMA1 [Mapview hg38]
OMIM118938   
Gene and transcription
Genbank (Entrez)AB451464 BC069110 BC069370 BC069490 BC103974
RefSeq transcript (Entrez)NM_001308083 NM_001836
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)CMA1
Cluster EST : UnigeneHs.135626 [ NCBI ]
CGAP (NCI)Hs.135626
Alternative Splicing GalleryENSG00000092009
Gene ExpressionCMA1 [ NCBI-GEO ]   CMA1 [ EBI - ARRAY_EXPRESS ]   CMA1 [ SEEK ]   CMA1 [ MEM ]
Gene Expression Viewer (FireBrowse)CMA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1215
GTEX Portal (Tissue expression)CMA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23946   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP23946  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP23946
Splice isoforms : SwissVarP23946
Catalytic activity : Enzyme3.4.21.39 [ Enzyme-Expasy ]   3.4.21.393.4.21.39 [ IntEnz-EBI ]   3.4.21.39 [ BRENDA ]   3.4.21.39 [ KEGG ]   
PhosPhoSitePlusP23946
Domaine pattern : Prosite (Expaxy)TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)Peptidase_S1_PA    Peptidase_S1A    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
Domain families : Pfam (Sanger)Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00089   
Domain families : Smart (EMBL)Tryp_SPc (SM00020)  
Conserved Domain (NCBI)CMA1
DMDM Disease mutations1215
Blocks (Seattle)CMA1
PDB (SRS)1KLT    1NN6    1PJP    1T31    2HVX    3N7O    3S0N    4AFQ    4AFS    4AFU    4AFZ    4AG1    4AG2    4K2Y    4K5Z    4K60    4K69    4KP0   
PDB (PDBSum)1KLT    1NN6    1PJP    1T31    2HVX    3N7O    3S0N    4AFQ    4AFS    4AFU    4AFZ    4AG1    4AG2    4K2Y    4K5Z    4K60    4K69    4KP0   
PDB (IMB)1KLT    1NN6    1PJP    1T31    2HVX    3N7O    3S0N    4AFQ    4AFS    4AFU    4AFZ    4AG1    4AG2    4K2Y    4K5Z    4K60    4K69    4KP0   
PDB (RSDB)1KLT    1NN6    1PJP    1T31    2HVX    3N7O    3S0N    4AFQ    4AFS    4AFU    4AFZ    4AG1    4AG2    4K2Y    4K5Z    4K60    4K69    4KP0   
Structural Biology KnowledgeBase1KLT    1NN6    1PJP    1T31    2HVX    3N7O    3S0N    4AFQ    4AFS    4AFU    4AFZ    4AG1    4AG2    4K2Y    4K5Z    4K60    4K69    4KP0   
SCOP (Structural Classification of Proteins)1KLT    1NN6    1PJP    1T31    2HVX    3N7O    3S0N    4AFQ    4AFS    4AFU    4AFZ    4AG1    4AG2    4K2Y    4K5Z    4K60    4K69    4KP0   
CATH (Classification of proteins structures)1KLT    1NN6    1PJP    1T31    2HVX    3N7O    3S0N    4AFQ    4AFS    4AFU    4AFZ    4AG1    4AG2    4K2Y    4K5Z    4K60    4K69    4KP0   
SuperfamilyP23946
Human Protein AtlasENSG00000092009
Peptide AtlasP23946
HPRD00346
IPIIPI00013937   IPI00004922   
Protein Interaction databases
DIP (DOE-UCLA)P23946
IntAct (EBI)P23946
FunCoupENSG00000092009
BioGRIDCMA1
STRING (EMBL)CMA1
ZODIACCMA1
Ontologies - Pathways
QuickGOP23946
Ontology : AmiGOangiotensin maturation  endopeptidase activity  serine-type endopeptidase activity  serine-type endopeptidase activity  serine-type endopeptidase activity  extracellular region  cytoplasm  immune response  serine-type peptidase activity  protein processing  extracellular matrix disassembly  midbrain development  extracellular matrix  peptide binding  intracellular membrane-bounded organelle  positive regulation of angiogenesis  interleukin-1 beta biosynthetic process  regulation of inflammatory response  cellular response to glucose stimulus  
Ontology : EGO-EBIangiotensin maturation  endopeptidase activity  serine-type endopeptidase activity  serine-type endopeptidase activity  serine-type endopeptidase activity  extracellular region  cytoplasm  immune response  serine-type peptidase activity  protein processing  extracellular matrix disassembly  midbrain development  extracellular matrix  peptide binding  intracellular membrane-bounded organelle  positive regulation of angiogenesis  interleukin-1 beta biosynthetic process  regulation of inflammatory response  cellular response to glucose stimulus  
Pathways : BIOCARTAAngiotensin-converting enzyme 2 regulates heart function [Genes]   
Pathways : KEGGRenin-angiotensin system   
NDEx NetworkCMA1
Atlas of Cancer Signalling NetworkCMA1
Wikipedia pathwaysCMA1
Orthology - Evolution
OrthoDB1215
GeneTree (enSembl)ENSG00000092009
Phylogenetic Trees/Animal Genes : TreeFamCMA1
HOVERGENP23946
HOGENOMP23946
Homologs : HomoloGeneCMA1
Homology/Alignments : Family Browser (UCSC)CMA1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCMA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CMA1
dbVarCMA1
ClinVarCMA1
1000_GenomesCMA1 
Exome Variant ServerCMA1
ExAC (Exome Aggregation Consortium)CMA1 (select the gene name)
Genetic variants : HAPMAP1215
Genomic Variants (DGV)CMA1 [DGVbeta]
DECIPHER (Syndromes)14:24974561-24977471  ENSG00000092009
CONAN: Copy Number AnalysisCMA1 
Mutations
ICGC Data PortalCMA1 
TCGA Data PortalCMA1 
Broad Tumor PortalCMA1
OASIS PortalCMA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCMA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCMA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CMA1
DgiDB (Drug Gene Interaction Database)CMA1
DoCM (Curated mutations)CMA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CMA1 (select a term)
intoGenCMA1
Cancer3DCMA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118938   
Orphanet
MedgenCMA1
Genetic Testing Registry CMA1
NextProtP23946 [Medical]
TSGene1215
GENETestsCMA1
Huge Navigator CMA1 [HugePedia]
snp3D : Map Gene to Disease1215
BioCentury BCIQCMA1
ClinGenCMA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1215
Chemical/Pharm GKB GenePA26623
Clinical trialCMA1
Miscellaneous
canSAR (ICR)CMA1 (select the gene name)
Probes
Litterature
PubMed108 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCMA1
EVEXCMA1
GoPubMedCMA1
iHOPCMA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:00:56 CET 2017

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