CMA1 (chymase 1) - Rat Genome Database

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Gene: CMA1 (chymase 1) Homo sapiens
Analyze
Symbol: CMA1
Name: chymase 1
RGD ID: 735367
HGNC Page HGNC:2097
Description: Enables serine-type endopeptidase activity. Involved in basement membrane disassembly; cytokine precursor processing; and regulation of inflammatory response. Located in cytoplasmic ribonucleoprotein granule; cytosol; and secretory granule. Implicated in asthma; atopic dermatitis; hypertrophic cardiomyopathy; and sarcoidosis. Biomarker of asthma; chronic obstructive pulmonary disease; congenital heart disease; and interstitial lung disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-chymase; chymase; chymase 1 preproprotein transcript E; chymase 1 preproprotein transcript I; chymase 1, mast cell; chymase, heart; chymase, mast cell; CYH; mast cell protease I; MCT1; MGC119890; MGC119891
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381424,505,353 - 24,508,265 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1424,505,353 - 24,508,265 (-)EnsemblGRCh38hg38GRCh38
GRCh371424,974,559 - 24,977,471 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361424,044,552 - 24,047,311 (-)NCBINCBI36Build 36hg18NCBI36
Build 341424,044,551 - 24,047,311NCBI
Celera144,839,478 - 4,842,237 (-)NCBICelera
Cytogenetic Map14q12NCBI
HuRef145,089,481 - 5,092,240 (-)NCBIHuRef
CHM1_11424,973,574 - 24,976,333 (-)NCBICHM1_1
T2T-CHM13v2.01418,704,211 - 18,707,123 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mast cell phenotype, location, and activation in severe asthma: data from the severe asthma research program. Balzar S, etal., Am J Respir Crit Care Med. 2011 Feb 1;183(3):299-309. Epub 2010 Sep 2.
2. Assessment of bronchial inflammation using an automated cell recognition system based on colour analysis. Berger P, etal., Eur Respir J. 1999 Dec;14(6):1394-402.
3. Segmental bronchoprovocation in allergic rhinitis patients affects mast cell and basophil numbers in nasal and bronchial mucosa. Braunstahl GJ, etal., Am J Respir Crit Care Med. 2001 Sep 1;164(5):858-65.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Association of mast cells with lung function in chronic obstructive pulmonary disease. Gosman MM, etal., Respir Res. 2008 Sep 10;9:64.
6. Increased expression of mast cell chymase in the lungs of patients with congenital heart disease associated with early pulmonary vascular disease. Hamada H, etal., Am J Respir Crit Care Med. 1999 Oct;160(4):1303-8.
7. Evidence for a role of mast cells in the evolution to congestive heart failure. Hara M, etal., J Exp Med. 2002 Feb 4;195(3):375-81.
8. Enhanced mast cell chymase expression in human idiopathic interstitial pneumonia. Hirata K, etal., Int J Mol Med. 2007 Apr;19(4):565-70.
9. 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. Iwanaga T, etal., Clin Exp Allergy. 2004 Jul;34(7):1037-42.
10. Tranilast reduces mesenteric vascular collagen deposition and chymase-positive mast cells in experimental diabetes. Jones SE, etal., J Diabetes Complications. 2004 Sep-Oct;18(5):309-15.
11. Gene expression of cardiac mast cell chymase and tryptase in a murine model of heart failure caused by viral myocarditis. Kitaura-Inenaga K, etal., Circ J. 2003 Oct;67(10):881-4.
12. Human chymase expression in a mice induces mild hypertension with left ventricular hypertrophy. Koga T, etal., Hypertens Res. 2003 Sep;26(9):759-68.
13. Chymase gene (CMA1) polymorphisms in Dutch and Japanese sarcoidosis patients. Kruit A, etal., Respiration. 2006;73(5):623-33. Epub 2006 Jan 27.
14. Targeting the renin-angiotensin system: what's new? Leckie BJ Curr Med Chem Cardiovasc Hematol Agents. 2005 Jan;3(1):23-32.
15. Differential accumulation of pulmonary and cardiac mast cell-subsets and eosinophils between fatal anaphylaxis and asthma death: a postmortem comparative study. Perskvist N and Edston E, Forensic Sci Int. 2007 Jun 14;169(1):43-9. Epub 2006 Nov 1.
16. Angiotensin-converting enzyme and heart chymase gene polymorphisms in hypertrophic cardiomyopathy. Pfeufer A, etal., Am J Cardiol. 1996 Aug 1;78(3):362-4.
17. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. Inhibition of granuloma-associated angiogenesis by controlling mast cell mediator release: role of mast cell protease-5. Russo A, etal., Br J Pharmacol. 2005 May;145(1):24-33.
20. Angiotensin converting enzyme-independent angiotensin ii production by chymase is up-regulated in the ischemic kidney in renovascular hypertension. Sadjadi J, etal., J Surg Res. 2005 Aug;127(2):65-9.
21. 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. Sharma S, etal., J Hum Genet. 2005;50(6):276-82. Epub 2005 May 28.
22. Association study of mast cell chymase polymorphisms with atopy. Weidinger S, etal., Allergy. 2005 Oct;60(10):1256-61.
Additional References at PubMed
PMID:1894611   PMID:1919436   PMID:2049082   PMID:2071582   PMID:2266130   PMID:7682566   PMID:8027075   PMID:8144971   PMID:8226889   PMID:8468056   PMID:8495723   PMID:8695029  
PMID:9256427   PMID:9257865   PMID:9400368   PMID:9675146   PMID:9931257   PMID:10208809   PMID:10224464   PMID:10899625   PMID:11096141   PMID:11208365   PMID:11303326   PMID:11502696  
PMID:11696688   PMID:11751973   PMID:11852067   PMID:12047032   PMID:12062105   PMID:12097409   PMID:12165749   PMID:12359984   PMID:12446192   PMID:12477932   PMID:12484503   PMID:12499576  
PMID:12531890   PMID:12614156   PMID:12815038   PMID:14592513   PMID:14701812   PMID:14757520   PMID:15106801   PMID:15227657   PMID:15449728   PMID:15489334   PMID:15555355   PMID:15638376  
PMID:15788353   PMID:15914614   PMID:15919053   PMID:16020275   PMID:16317101   PMID:16400609   PMID:16520412   PMID:16786130   PMID:16962475   PMID:17035401   PMID:17199219   PMID:17460374  
PMID:17851694   PMID:18079408   PMID:18641516   PMID:18845543   PMID:18856058   PMID:18958543   PMID:18973102   PMID:19126871   PMID:19332265   PMID:19380825   PMID:19494363   PMID:19520069  
PMID:19697770   PMID:19853701   PMID:19899640   PMID:19913121   PMID:20423454   PMID:20424473   PMID:20551380   PMID:20628086   PMID:20659024   PMID:20670150   PMID:20736038   PMID:20800603  
PMID:21150220   PMID:21274549   PMID:21786536   PMID:21796807   PMID:21873635   PMID:22102069   PMID:22180785   PMID:22194960   PMID:22363824   PMID:22653218   PMID:22679278   PMID:24257755  
PMID:24344642   PMID:24507159   PMID:24516344   PMID:24560885   PMID:24823657   PMID:24874976   PMID:25102745   PMID:25119908   PMID:25120737   PMID:25797204   PMID:27068509   PMID:27559042  
PMID:28053237   PMID:28205588   PMID:28878298   PMID:29529050   PMID:29973268   PMID:30021884   PMID:31466718   PMID:31888494   PMID:32129682   PMID:32361612   PMID:32678248   PMID:33309638  
PMID:33961781   PMID:34688137   PMID:34859861   PMID:34884420   PMID:35513594   PMID:36607699   PMID:37175975   PMID:37298438   PMID:37821269  


Genomics

Comparative Map Data
CMA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381424,505,353 - 24,508,265 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1424,505,353 - 24,508,265 (-)EnsemblGRCh38hg38GRCh38
GRCh371424,974,559 - 24,977,471 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361424,044,552 - 24,047,311 (-)NCBINCBI36Build 36hg18NCBI36
Build 341424,044,551 - 24,047,311NCBI
Celera144,839,478 - 4,842,237 (-)NCBICelera
Cytogenetic Map14q12NCBI
HuRef145,089,481 - 5,092,240 (-)NCBIHuRef
CHM1_11424,973,574 - 24,976,333 (-)NCBICHM1_1
T2T-CHM13v2.01418,704,211 - 18,707,123 (-)NCBIT2T-CHM13v2.0
Cma1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391456,178,908 - 56,182,132 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1456,178,908 - 56,182,132 (-)EnsemblGRCm39 Ensembl
GRCm381455,941,451 - 55,944,675 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1455,941,451 - 55,944,675 (-)EnsemblGRCm38mm10GRCm38
MGSCv371456,560,288 - 56,563,498 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361454,895,522 - 54,898,732 (-)NCBIMGSCv36mm8
Celera1453,745,166 - 53,748,376 (-)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1428.19NCBI
Cma1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81533,387,351 - 33,390,133 (-)NCBIGRCr8
mRatBN7.21529,417,451 - 29,420,233 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1529,417,451 - 29,420,233 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1531,263,077 - 31,265,859 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01532,410,295 - 32,413,077 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01530,652,671 - 30,655,453 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01534,601,037 - 34,603,819 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1534,601,037 - 34,603,819 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01538,490,971 - 38,493,753 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41534,083,202 - 34,084,387 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11534,098,901 - 34,102,176 (-)NCBI
Celera1528,991,244 - 28,994,014 (-)NCBICelera
RH 3.4 Map15213.78RGD
Cytogenetic Map15p12NCBI
CMA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21525,855,859 - 25,858,985 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11425,072,378 - 25,075,477 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0145,277,269 - 5,280,335 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11423,400,677 - 23,402,819 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1423,400,345 - 23,403,548 (-)Ensemblpanpan1.1panPan2
CMA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.184,438,244 - 4,441,189 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl84,438,244 - 4,441,189 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha84,359,948 - 4,362,893 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.084,549,708 - 4,552,661 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl84,549,715 - 4,552,661 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.184,239,198 - 4,242,142 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.084,301,888 - 4,304,834 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.084,564,103 - 4,567,048 (-)NCBIUU_Cfam_GSD_1.0
CMA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1241,471,767 - 1,475,062 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl241,471,725 - 1,474,692 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603613,158,008 - 13,161,323 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cma1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248208,021,959 - 8,024,851 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248208,021,965 - 8,024,763 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CMA1
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12		 likely pathogenic
GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1 copy number loss See cases [RCV000142873] Chr14:23984065..25374494 [GRCh38]
Chr14:24453274..25843700 [GRCh37]
Chr14:23523114..24913540 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) copy number gain not provided [RCV000767822] Chr14:19100682..28730087 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 copy number gain See cases [RCV000240285] Chr14:19794561..27768254 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q12(chr14:24947323-24986166) copy number gain Abnormal esophagus morphology [RCV000416884] Chr14:24947323..24986166 [GRCh37]
Chr14:14q12		 likely benign
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1 copy number loss See cases [RCV000510673] Chr14:24233721..31377083 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q12(chr14:24917041-25611546)x3 copy number gain See cases [RCV000510160] Chr14:24917041..25611546 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001836.5(CMA1):c.626G>C (p.Cys209Ser) single nucleotide variant Inborn genetic diseases [RCV003299555] Chr14:24505634 [GRCh38]
Chr14:24974840 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001836.5(CMA1):c.568G>A (p.Gly190Ser) single nucleotide variant Inborn genetic diseases [RCV003289850] Chr14:24506060 [GRCh38]
Chr14:24975266 [GRCh37]
Chr14:14q12		 uncertain significance
NC_000014.8:g.(?_23242819)_(25103366_?)dup duplication Lysinuric protein intolerance [RCV003105428]|Specific granule deficiency [RCV003105427] Chr14:23242819..25103366 [GRCh37]
Chr14:14q11.2-12		 uncertain significance
NM_001836.5(CMA1):c.136G>C (p.Gly46Arg) single nucleotide variant not provided [RCV000880120] Chr14:24507429 [GRCh38]
Chr14:24976635 [GRCh37]
Chr14:14q12		 likely benign
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2		 pathogenic
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1		 not provided
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1 copy number loss not provided [RCV002475721] Chr14:24959823..33415359 [GRCh37]
Chr14:14q12-13.1		 pathogenic
NM_001836.5(CMA1):c.547C>T (p.His183Tyr) single nucleotide variant Inborn genetic diseases [RCV002685309] Chr14:24506081 [GRCh38]
Chr14:24975287 [GRCh37]
Chr14:14q12		 uncertain significance
NM_001836.5(CMA1):c.77C>G (p.Thr26Arg) single nucleotide variant Inborn genetic diseases [RCV002728419] Chr14:24507488 [GRCh38]
Chr14:24976694 [GRCh37]
Chr14:14q12		 uncertain significance
NM_001836.5(CMA1):c.177C>A (p.Asn59Lys) single nucleotide variant Inborn genetic diseases [RCV002888549] Chr14:24507388 [GRCh38]
Chr14:24976594 [GRCh37]
Chr14:14q12		 uncertain significance
NM_001836.5(CMA1):c.509T>C (p.Met170Thr) single nucleotide variant Inborn genetic diseases [RCV002660503] Chr14:24506119 [GRCh38]
Chr14:24975325 [GRCh37]
Chr14:14q12		 uncertain significance
NM_001836.5(CMA1):c.145A>G (p.Lys49Glu) single nucleotide variant Inborn genetic diseases [RCV002798293] Chr14:24507420 [GRCh38]
Chr14:24976626 [GRCh37]
Chr14:14q12		 uncertain significance
NM_001836.5(CMA1):c.434G>A (p.Arg145Gln) single nucleotide variant Inborn genetic diseases [RCV002641147] Chr14:24506194 [GRCh38]
Chr14:24975400 [GRCh37]
Chr14:14q12		 uncertain significance
NM_001836.5(CMA1):c.70G>A (p.Gly24Arg) single nucleotide variant Inborn genetic diseases [RCV002984163] Chr14:24507495 [GRCh38]
Chr14:24976701 [GRCh37]
Chr14:14q12		 uncertain significance
NM_001836.5(CMA1):c.488A>G (p.Gln163Arg) single nucleotide variant Inborn genetic diseases [RCV002808830] Chr14:24506140 [GRCh38]
Chr14:24975346 [GRCh37]
Chr14:14q12		 uncertain significance
NM_001836.5(CMA1):c.649G>A (p.Val217Ile) single nucleotide variant Inborn genetic diseases [RCV002961544] Chr14:24505611 [GRCh38]
Chr14:24974817 [GRCh37]
Chr14:14q12		 uncertain significance
NM_001836.5(CMA1):c.563G>T (p.Cys188Phe) single nucleotide variant Inborn genetic diseases [RCV002675223] Chr14:24506065 [GRCh38]
Chr14:24975271 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1 copy number loss not provided [RCV003483196] Chr14:24445622..28262222 [GRCh37]
Chr14:14q11.2-12		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:391
Count of miRNA genes:232
Interacting mature miRNAs:237
Transcripts:ENST00000206446, ENST00000250378
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH69168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,974,495 - 24,974,667UniSTSGRCh37
Build 361424,044,335 - 24,044,507RGDNCBI36
Celera144,839,261 - 4,839,433RGD
Cytogenetic Map14q11.2UniSTS
HuRef145,089,264 - 5,089,436UniSTS
GeneMap99-GB4 RH Map1419.84UniSTS
(TG)_(GA)_R1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,974,260 - 24,974,625UniSTSGRCh37
Build 361424,044,100 - 24,044,465RGDNCBI36
Celera144,839,032 - 4,839,391RGD
HuRef145,089,035 - 5,089,394UniSTS
GDB:185180  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q11.2UniSTS
CMA1-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,974,762 - 24,975,422UniSTSGRCh37
Celera144,839,528 - 4,840,188UniSTS
HuRef145,089,531 - 5,090,191UniSTS


Related Rat Strains
The following Strains have been annotated to CMA1
SD-Tg(CAG-CMA1)1Mcwi     SD-Tg(CAG-CMA1)2Mcwi     SD-Tg(CAG-CMA1)3Mcwi     SD-Tg(CAG-CMA1)4Mcwi     SD-Tg(CAG-CMA1)5Mcwi    


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 363 14 2 30 48 867 258 30 10 21 3 30 387 350
Low 1453 881 320 224 625 104 1977 965 544 101 606 472 124 1 694 1256
Below cutoff 435 1318 967 254 679 244 996 745 1000 195 528 773 16 105 846 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB451464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ082727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ082729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY275608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S61334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000206446   ⟹   ENSP00000206446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,505,506 - 24,508,265 (-)Ensembl
RefSeq Acc Id: ENST00000250378   ⟹   ENSP00000250378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,505,353 - 24,508,265 (-)Ensembl
RefSeq Acc Id: NM_001308083   ⟹   NP_001295012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,505,353 - 24,508,265 (-)NCBI
CHM1_11424,973,423 - 24,976,333 (-)NCBI
T2T-CHM13v2.01418,704,211 - 18,707,123 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001836   ⟹   NP_001827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,505,353 - 24,508,265 (-)NCBI
GRCh371424,974,712 - 24,977,471 (-)ENTREZGENE
Build 361424,044,552 - 24,047,311 (-)NCBI Archive
HuRef145,089,481 - 5,092,240 (-)ENTREZGENE
CHM1_11424,973,423 - 24,976,333 (-)NCBI
T2T-CHM13v2.01418,704,211 - 18,707,123 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001827   ⟸   NM_001836
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q3SY37 (UniProtKB/Swiss-Prot),   Q3SY36 (UniProtKB/Swiss-Prot),   Q16018 (UniProtKB/Swiss-Prot),   B5BUM8 (UniProtKB/Swiss-Prot),   Q9UDH5 (UniProtKB/Swiss-Prot),   P23946 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295012   ⟸   NM_001308083
- Peptide Label: isoform 2
- UniProtKB: P23946 (UniProtKB/Swiss-Prot),   Q4FEB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000206446   ⟸   ENST00000206446
RefSeq Acc Id: ENSP00000250378   ⟸   ENST00000250378
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23946-F1-model_v2 AlphaFold P23946 1-247 view protein structure

Promoters
RGD ID:7227331
Promoter ID:EPDNEW_H19410
Type:initiation region
Name:CMA1_1
Description:chymase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,508,265 - 24,508,325EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2097 AgrOrtholog
COSMIC CMA1 COSMIC
Ensembl Genes ENSG00000092009 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000206446 ENTREZGENE
  ENST00000206446.4 UniProtKB/Swiss-Prot
  ENST00000250378 ENTREZGENE
  ENST00000250378.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000092009 GTEx
HGNC ID HGNC:2097 ENTREZGENE
Human Proteome Map CMA1 Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot
KEGG Report hsa:1215 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1215 ENTREZGENE
OMIM 118938 OMIM
PANTHER CHYMASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KALLIKREIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CMA1 RGD, PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot
SMART Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B5BUM8 ENTREZGENE
  CMA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16018 ENTREZGENE
  Q3SY36 ENTREZGENE
  Q3SY37 ENTREZGENE
  Q4FEB3 ENTREZGENE, UniProtKB/TrEMBL
  Q4FEB5_HUMAN UniProtKB/TrEMBL
  Q9UDH5 ENTREZGENE
UniProt Secondary B5BUM8 UniProtKB/Swiss-Prot
  Q16018 UniProtKB/Swiss-Prot
  Q3SY36 UniProtKB/Swiss-Prot
  Q3SY37 UniProtKB/Swiss-Prot
  Q9UDH5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 CMA1  chymase 1  CMA1  chymase 1, mast cell  Symbol and/or name change 5135510 APPROVED