CNN1 (calponin 1) - Rat Genome Database

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Gene: CNN1 (calponin 1) Homo sapiens
Analyze
Symbol: CNN1
Name: calponin 1
RGD ID: 731921
HGNC Page HGNC:2155
Description: Predicted to enable actin filament binding activity. Involved in negative regulation of vascular associated smooth muscle cell proliferation. Located in cytoskeleton.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: basic calponin; calponin 1, basic, smooth muscle; calponin H1, smooth muscle; calponin-1; calponins, basic; epididymis secretory protein Li 14; HEL-S-14; Sm-Calp; SMCC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381911,538,851 - 11,550,323 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1911,538,767 - 11,550,323 (+)EnsemblGRCh38hg38GRCh38
GRCh371911,649,666 - 11,661,138 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361911,510,579 - 11,522,138 (+)NCBINCBI36Build 36hg18NCBI36
Build 341911,510,578 - 11,522,138NCBI
Celera1911,544,322 - 11,555,881 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1911,224,160 - 11,235,718 (+)NCBIHuRef
CHM1_11911,649,645 - 11,661,204 (+)NCBICHM1_1
T2T-CHM13v2.01911,666,362 - 11,677,836 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
25-hydroxycholesterol  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
9-cis-retinoic acid  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
amphibole asbestos  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diquat  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
folpet  (ISO)
fucoxanthin  (ISO)
fulvestrant  (EXP)
genistein  (EXP)
glucose  (ISO)
graphene oxide  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
isoflavones  (ISO)
L-ascorbic acid  (EXP,ISO)
leflunomide  (EXP)
methylmercury chloride  (EXP)
Monobutylphthalate  (ISO)
Muraglitazar  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
niclosamide  (EXP)
nitrofen  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
phenylephrine  (ISO)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pioglitazone  (ISO)
pravastatin  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercetin  (ISO)
resveratrol  (EXP)
SB 203580  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triadimefon  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
undecane  (ISO)
valproic acid  (EXP)
vitamin E  (EXP)
vitamin K  (ISO)
warfarin  (ISO)
XL147  (ISO)
zaragozic acid A  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2161834   PMID:2455687   PMID:8125298   PMID:8526917   PMID:8616889   PMID:8864837   PMID:9001224   PMID:9049805   PMID:9312127   PMID:9332369   PMID:9645345   PMID:10220577  
PMID:11920541   PMID:12033495   PMID:12477932   PMID:12480535   PMID:12606518   PMID:14550641   PMID:15206927   PMID:15489334   PMID:17207965   PMID:17550897   PMID:17556051   PMID:17707120  
PMID:19391217   PMID:19913121   PMID:20530411   PMID:20584679   PMID:20628086   PMID:21051832   PMID:21326813   PMID:21423176   PMID:21817093   PMID:21873635   PMID:23382691   PMID:23731614  
PMID:24117680   PMID:24350264   PMID:24561123   PMID:24631115   PMID:26315405   PMID:26343330   PMID:26344197   PMID:26504022   PMID:27107012   PMID:28068849   PMID:28514442   PMID:33657658  
PMID:33961781   PMID:35652658   PMID:36423735   PMID:36724073   PMID:36736316   PMID:38240701  


Genomics

Comparative Map Data
CNN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381911,538,851 - 11,550,323 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1911,538,767 - 11,550,323 (+)EnsemblGRCh38hg38GRCh38
GRCh371911,649,666 - 11,661,138 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361911,510,579 - 11,522,138 (+)NCBINCBI36Build 36hg18NCBI36
Build 341911,510,578 - 11,522,138NCBI
Celera1911,544,322 - 11,555,881 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1911,224,160 - 11,235,718 (+)NCBIHuRef
CHM1_11911,649,645 - 11,661,204 (+)NCBICHM1_1
T2T-CHM13v2.01911,666,362 - 11,677,836 (+)NCBIT2T-CHM13v2.0
Cnn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39922,010,501 - 22,020,517 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl922,010,512 - 22,020,926 (+)EnsemblGRCm39 Ensembl
GRCm38922,099,221 - 22,109,221 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl922,099,216 - 22,109,630 (+)EnsemblGRCm38mm10GRCm38
MGSCv37921,903,697 - 21,913,665 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36921,849,683 - 21,860,032 (+)NCBIMGSCv36mm8
Celera919,368,227 - 19,378,195 (+)NCBICelera
Cytogenetic Map9A3NCBI
cM Map98.3NCBI
Cnn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8828,908,437 - 28,917,099 (+)NCBIGRCr8
mRatBN7.2820,632,434 - 20,641,097 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl820,632,338 - 20,641,098 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx824,661,337 - 24,670,331 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0822,958,475 - 22,967,472 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0820,861,968 - 20,870,646 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0823,113,083 - 23,121,748 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl823,113,048 - 23,121,761 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0823,167,867 - 23,176,532 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4821,210,524 - 21,221,024 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1821,210,526 - 21,221,024 (+)NCBI
Celera822,022,653 - 22,031,180 (+)NCBICelera
Cytogenetic Map8q13NCBI
Cnn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554952,394,724 - 2,401,778 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554952,394,724 - 2,401,236 (+)NCBIChiLan1.0ChiLan1.0
CNN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22016,451,391 - 16,462,914 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11915,450,099 - 15,461,943 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01911,084,862 - 11,096,374 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11911,796,523 - 11,807,680 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1911,796,523 - 11,807,680 (+)Ensemblpanpan1.1panPan2
CNN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12049,830,859 - 49,837,432 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2049,831,265 - 49,837,385 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2049,701,977 - 49,708,548 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02050,349,147 - 50,355,718 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2050,349,149 - 50,355,683 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12049,559,474 - 49,566,041 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02049,985,630 - 49,992,192 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02050,228,604 - 50,235,177 (-)NCBIUU_Cfam_GSD_1.0
Cnn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118208,775,112 - 208,784,025 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366591,572,839 - 1,579,613 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366591,572,839 - 1,579,594 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CNN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl270,183,364 - 70,190,752 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1270,183,370 - 70,190,756 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2270,536,430 - 70,544,016 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CNN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1610,461,140 - 10,470,813 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660749,379,569 - 9,390,583 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cnn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248283,283,817 - 3,290,401 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248283,283,830 - 3,290,274 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CNN1
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3 copy number gain See cases [RCV000054109] Chr19:11138895..11549951 [GRCh38]
Chr19:11249571..11660766 [GRCh37]
Chr19:11110571..11521766 [NCBI36]
Chr19:19p13.2
uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
Single allele deletion not provided [RCV000844961] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2
not provided
NM_001299.6(CNN1):c.865C>G (p.His289Asp) single nucleotide variant not specified [RCV004297048] Chr19:11549766 [GRCh38]
Chr19:11660581 [GRCh37]
Chr19:19p13.2
uncertain significance
NC_000019.9:g.(?_11277234)_(13249220_?)dup duplication not provided [RCV003105511] Chr19:11277234..13249220 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3 copy number gain not provided [RCV001007032] Chr19:11445773..12160664 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:10642984-12810067) copy number loss not provided [RCV001249213] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2
not provided
GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1 copy number loss See cases [RCV001263055] Chr19:10957601..11672041 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 copy number gain not provided [RCV001834267] Chr19:9941033..11739567 [GRCh37]
Chr19:19p13.2
uncertain significance
NC_000019.9:g.(?_10828919)_(13482613_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate B [RCV003109233]|Deficiency of alpha-mannosidase [RCV003109232]|Episodic ataxia type 2 [RCV003109234]|Glutaric aciduria, type 1 [RCV003122092] Chr19:10828919..13482613 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.88C>T (p.Arg30Trp) single nucleotide variant not specified [RCV004161765] Chr19:11541100 [GRCh38]
Chr19:11651915 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.734T>A (p.Leu245Gln) single nucleotide variant not specified [RCV004151029] Chr19:11549635 [GRCh38]
Chr19:11660450 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.556C>T (p.Arg186Cys) single nucleotide variant not specified [RCV004091146] Chr19:11549377 [GRCh38]
Chr19:11660192 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.310G>A (p.Asp104Asn) single nucleotide variant not specified [RCV004090310] Chr19:11546889 [GRCh38]
Chr19:11657704 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.461C>A (p.Pro154Gln) single nucleotide variant not specified [RCV004108406] Chr19:11547867 [GRCh38]
Chr19:11658682 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.554G>A (p.Arg185Gln) single nucleotide variant not specified [RCV004226059] Chr19:11549375 [GRCh38]
Chr19:11660190 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.880T>C (p.Tyr294His) single nucleotide variant not specified [RCV004177380] Chr19:11549781 [GRCh38]
Chr19:11660596 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.311A>T (p.Asp104Val) single nucleotide variant not specified [RCV004137240] Chr19:11546890 [GRCh38]
Chr19:11657705 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.770G>A (p.Gly257Asp) single nucleotide variant not specified [RCV004080243] Chr19:11549671 [GRCh38]
Chr19:11660486 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.725A>G (p.Asn242Ser) single nucleotide variant not specified [RCV004120473] Chr19:11549626 [GRCh38]
Chr19:11660441 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.313A>G (p.Ile105Val) single nucleotide variant not specified [RCV004215869] Chr19:11546892 [GRCh38]
Chr19:11657707 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.539C>T (p.Thr180Met) single nucleotide variant not specified [RCV004248412] Chr19:11549360 [GRCh38]
Chr19:11660175 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.516G>C (p.Lys172Asn) single nucleotide variant not specified [RCV004257702] Chr19:11549337 [GRCh38]
Chr19:11660152 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.727G>A (p.Val243Ile) single nucleotide variant not specified [RCV004259397] Chr19:11549628 [GRCh38]
Chr19:11660443 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.89G>A (p.Arg30Gln) single nucleotide variant not specified [RCV004256427] Chr19:11541101 [GRCh38]
Chr19:11651916 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.564C>T (p.Leu188=) single nucleotide variant not provided [RCV003423345] Chr19:11549385 [GRCh38]
Chr19:11660200 [GRCh37]
Chr19:19p13.2
likely benign
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 copy number loss not specified [RCV003986120] Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001299.6(CNN1):c.157G>T (p.Gly53Cys) single nucleotide variant not specified [RCV004439906] Chr19:11541169 [GRCh38]
Chr19:11651984 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.803A>G (p.Tyr268Cys) single nucleotide variant not specified [RCV004439911] Chr19:11549704 [GRCh38]
Chr19:11660519 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.553C>T (p.Arg185Trp) single nucleotide variant not specified [RCV004439910] Chr19:11549374 [GRCh38]
Chr19:11660189 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.15C>G (p.His5Gln) single nucleotide variant not specified [RCV004439907] Chr19:11538942 [GRCh38]
Chr19:11649757 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.509C>A (p.Thr170Asn) single nucleotide variant not specified [RCV004439909] Chr19:11549330 [GRCh38]
Chr19:11660145 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001299.6(CNN1):c.410A>T (p.Lys137Met) single nucleotide variant not specified [RCV004439908] Chr19:11547816 [GRCh38]
Chr19:11658631 [GRCh37]
Chr19:19p13.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3335
Count of miRNA genes:892
Interacting mature miRNAs:1073
Transcripts:ENST00000252456, ENST00000535659, ENST00000544952, ENST00000585869, ENST00000586059, ENST00000586577, ENST00000587087, ENST00000588468, ENST00000588935, ENST00000592338, ENST00000592923
Prediction methods:Microtar, 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
STS-N93364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,660,889 - 11,661,133UniSTSGRCh37
Build 361911,521,889 - 11,522,133RGDNCBI36
Celera1911,555,632 - 11,555,876RGD
Cytogenetic Map19p13.2-p13.1UniSTS
HuRef1911,235,469 - 11,235,713UniSTS
GeneMap99-GB4 RH Map1969.77UniSTS
RH78572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,660,861 - 11,661,000UniSTSGRCh37
Build 361911,521,861 - 11,522,000RGDNCBI36
Celera1911,555,604 - 11,555,743RGD
Cytogenetic Map19p13.2-p13.1UniSTS
HuRef1911,235,441 - 11,235,580UniSTS
GeneMap99-GB4 RH Map1971.07UniSTS
NCBI RH Map1987.9UniSTS
CNN1_8267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,660,521 - 11,661,273UniSTSGRCh37
Build 361911,521,521 - 11,522,273RGDNCBI36
Celera1911,555,264 - 11,556,016RGD
HuRef1911,235,101 - 11,235,853UniSTS
Cnn1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,660,810 - 11,661,069UniSTSGRCh37
Celera1911,555,553 - 11,555,812UniSTS
HuRef1911,235,390 - 11,235,649UniSTS
ksks67  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,657,753 - 11,658,648UniSTSGRCh37
Celera1911,552,496 - 11,553,391UniSTS
HuRef1911,232,333 - 11,233,228UniSTS


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 pharyngeal arch
High 1393 844 1 28 1 601 778 1 14 194 1 8 594
Medium 872 1302 708 201 266 45 2719 623 743 127 1048 1177 159 1 1041 1475 3 2
Low 64 524 963 379 738 373 974 770 2780 249 158 291 11 155 718 1
Below cutoff 52 317 54 44 586 46 48 23 206 22 45 111 3 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG718473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D17408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D85611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U37019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000252456   ⟹   ENSP00000252456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,538,851 - 11,550,323 (+)Ensembl
RefSeq Acc Id: ENST00000535659   ⟹   ENSP00000442031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,538,775 - 11,550,000 (+)Ensembl
RefSeq Acc Id: ENST00000585869   ⟹   ENSP00000468326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,540,236 - 11,541,173 (+)Ensembl
RefSeq Acc Id: ENST00000586059   ⟹   ENSP00000466886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,539,894 - 11,547,906 (+)Ensembl
RefSeq Acc Id: ENST00000586577   ⟹   ENSP00000467701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,546,708 - 11,549,724 (+)Ensembl
RefSeq Acc Id: ENST00000587087   ⟹   ENSP00000468737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,541,190 - 11,549,959 (+)Ensembl
RefSeq Acc Id: ENST00000588468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,538,853 - 11,542,241 (+)Ensembl
RefSeq Acc Id: ENST00000588935   ⟹   ENSP00000468053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,547,840 - 11,550,321 (+)Ensembl
RefSeq Acc Id: ENST00000592338   ⟹   ENSP00000468293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,546,675 - 11,549,758 (+)Ensembl
RefSeq Acc Id: ENST00000592923   ⟹   ENSP00000468259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,538,767 - 11,550,322 (+)Ensembl
RefSeq Acc Id: NM_001299   ⟹   NP_001290
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,538,851 - 11,550,323 (+)NCBI
GRCh371911,649,579 - 11,661,139 (+)NCBI
Build 361911,510,579 - 11,522,138 (+)NCBI Archive
HuRef1911,224,160 - 11,235,718 (+)ENTREZGENE
CHM1_11911,649,598 - 11,661,204 (+)NCBI
T2T-CHM13v2.01911,666,362 - 11,677,836 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308341   ⟹   NP_001295270
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,538,851 - 11,550,323 (+)NCBI
CHM1_11911,649,598 - 11,661,204 (+)NCBI
T2T-CHM13v2.01911,666,362 - 11,677,836 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308342   ⟹   NP_001295271
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,538,851 - 11,550,323 (+)NCBI
CHM1_11911,649,598 - 11,661,204 (+)NCBI
T2T-CHM13v2.01911,666,362 - 11,677,836 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259741   ⟹   XP_005259798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,539,985 - 11,550,323 (+)NCBI
GRCh371911,649,579 - 11,661,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026289   ⟹   XP_016881778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,539,985 - 11,550,323 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054319811   ⟹   XP_054175786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01911,667,752 - 11,677,836 (+)NCBI
RefSeq Acc Id: XM_054319812   ⟹   XP_054175787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01911,667,511 - 11,677,836 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001290 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295270 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295271 (Get FASTA)   NCBI Sequence Viewer  
  XP_005259798 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881778 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175786 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175787 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB35751 (Get FASTA)   NCBI Sequence Viewer  
  AAC51780 (Get FASTA)   NCBI Sequence Viewer  
  AAH22015 (Get FASTA)   NCBI Sequence Viewer  
  AAH36307 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13655 (Get FASTA)   NCBI Sequence Viewer  
  BAA04231 (Get FASTA)   NCBI Sequence Viewer  
  BAA12983 (Get FASTA)   NCBI Sequence Viewer  
  BAA19538 (Get FASTA)   NCBI Sequence Viewer  
  BAD96954 (Get FASTA)   NCBI Sequence Viewer  
  BAG36065 (Get FASTA)   NCBI Sequence Viewer  
  BAG62488 (Get FASTA)   NCBI Sequence Viewer  
  BAH13577 (Get FASTA)   NCBI Sequence Viewer  
  BAH14777 (Get FASTA)   NCBI Sequence Viewer  
  EAW84228 (Get FASTA)   NCBI Sequence Viewer  
  EAW84229 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000252456
  ENSP00000252456.1
  ENSP00000442031
  ENSP00000442031.1
  ENSP00000466886.1
  ENSP00000467701.1
  ENSP00000468053.1
  ENSP00000468259
  ENSP00000468259.1
  ENSP00000468293.1
  ENSP00000468326.1
  ENSP00000468737.1
GenBank Protein P51911 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001290   ⟸   NM_001299
- Peptide Label: isoform 1
- UniProtKB: Q8IY93 (UniProtKB/Swiss-Prot),   Q15416 (UniProtKB/Swiss-Prot),   O00638 (UniProtKB/Swiss-Prot),   B4DUX6 (UniProtKB/Swiss-Prot),   B2R868 (UniProtKB/Swiss-Prot),   Q99438 (UniProtKB/Swiss-Prot),   P51911 (UniProtKB/Swiss-Prot),   V9HWA5 (UniProtKB/TrEMBL),   Q53FP8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005259798   ⟸   XM_005259741
- Peptide Label: isoform X2
- UniProtKB: B7Z7E1 (UniProtKB/TrEMBL),   Q53FP8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295270   ⟸   NM_001308341
- Peptide Label: isoform 2
- UniProtKB: B7Z7E1 (UniProtKB/TrEMBL),   Q53FP8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295271   ⟸   NM_001308342
- Peptide Label: isoform 2
- UniProtKB: B7Z7E1 (UniProtKB/TrEMBL),   Q53FP8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881778   ⟸   XM_017026289
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000252456   ⟸   ENST00000252456
RefSeq Acc Id: ENSP00000468326   ⟸   ENST00000585869
RefSeq Acc Id: ENSP00000466886   ⟸   ENST00000586059
RefSeq Acc Id: ENSP00000467701   ⟸   ENST00000586577
RefSeq Acc Id: ENSP00000468737   ⟸   ENST00000587087
RefSeq Acc Id: ENSP00000442031   ⟸   ENST00000535659
RefSeq Acc Id: ENSP00000468053   ⟸   ENST00000588935
RefSeq Acc Id: ENSP00000468259   ⟸   ENST00000592923
RefSeq Acc Id: ENSP00000468293   ⟸   ENST00000592338
RefSeq Acc Id: XP_054175787   ⟸   XM_054319812
- Peptide Label: isoform X2
- UniProtKB: B7Z7E1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175786   ⟸   XM_054319811
- Peptide Label: isoform X1
Protein Domains
Calponin-homology (CH)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51911-F1-model_v2 AlphaFold P51911 1-297 view protein structure

Promoters
RGD ID:6795290
Promoter ID:HG_KWN:28930
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001299
Position:
Human AssemblyChrPosition (strand)Source
Build 361911,510,391 - 11,510,891 (+)MPROMDB
RGD ID:6851366
Promoter ID:EP73481
Type:initiation region
Name:HS_CNN1
Description:Calponin 1, basic, smooth muscle.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361911,510,668 - 11,510,728EPD
RGD ID:7238619
Promoter ID:EPDNEW_H25056
Type:initiation region
Name:CNN1_3
Description:calponin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25053  EPDNEW_H25057  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,536,266 - 11,536,326EPDNEW
RGD ID:7238621
Promoter ID:EPDNEW_H25057
Type:initiation region
Name:CNN1_1
Description:calponin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25053  EPDNEW_H25056  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,538,853 - 11,538,913EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2155 AgrOrtholog
COSMIC CNN1 COSMIC
Ensembl Genes ENSG00000130176 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000252456 ENTREZGENE
  ENST00000252456.7 UniProtKB/Swiss-Prot
  ENST00000535659 ENTREZGENE
  ENST00000535659.6 UniProtKB/TrEMBL
  ENST00000585869.1 UniProtKB/TrEMBL
  ENST00000586059.5 UniProtKB/TrEMBL
  ENST00000586577.1 UniProtKB/TrEMBL
  ENST00000587087.5 UniProtKB/TrEMBL
  ENST00000588935.1 UniProtKB/TrEMBL
  ENST00000592338.5 UniProtKB/TrEMBL
  ENST00000592923 ENTREZGENE
  ENST00000592923.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130176 GTEx
HGNC ID HGNC:2155 ENTREZGENE
Human Proteome Map CNN1 Human Proteome Map
InterPro Calponin/LIMCH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calponin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM22_calponin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1264 ENTREZGENE
OMIM 600806 OMIM
PANTHER CALPONIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALPONIN UniProtKB/TrEMBL
  CALPONIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Calponin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26665 PharmGKB
PRINTS CALPONIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM22CALPONIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CALPONIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALPONIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R868 ENTREZGENE
  B4DUX6 ENTREZGENE
  B7Z7E1 ENTREZGENE, UniProtKB/TrEMBL
  CNN1_HUMAN UniProtKB/Swiss-Prot
  K7ENC5_HUMAN UniProtKB/TrEMBL
  K7EQ72_HUMAN UniProtKB/TrEMBL
  K7ER02_HUMAN UniProtKB/TrEMBL
  K7ERK4_HUMAN UniProtKB/TrEMBL
  K7ERM8_HUMAN UniProtKB/TrEMBL
  K7ESJ2_HUMAN UniProtKB/TrEMBL
  O00638 ENTREZGENE
  P51911 ENTREZGENE
  Q15416 ENTREZGENE
  Q53FP8 ENTREZGENE, UniProtKB/TrEMBL
  Q8IY93 ENTREZGENE
  Q99438 ENTREZGENE
  V9HWA5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R868 UniProtKB/Swiss-Prot
  B4DUX6 UniProtKB/Swiss-Prot
  O00638 UniProtKB/Swiss-Prot
  Q15416 UniProtKB/Swiss-Prot
  Q8IY93 UniProtKB/Swiss-Prot
  Q99438 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 CNN1  calponin 1    calponin 1, basic, smooth muscle  Symbol and/or name change 5135510 APPROVED