CAPN1 (calpain 1) - Rat Genome Database

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Gene: CAPN1 (calpain 1) Homo sapiens
Analyze
Symbol: CAPN1
Name: calpain 1
RGD ID: 736980
HGNC Page HGNC
Description: Exhibits calcium ion binding activity and calcium-dependent cysteine-type endopeptidase activity. Involved in regulation of catalytic activity and self proteolysis. Localizes to cytosol and plasma membrane. Implicated in hereditary spastic paraplegia 76. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: calcium-activated neutral proteinase 1; calpain 1, (mu/I) large subunit; calpain mu-type; calpain, large polypeptide L1; calpain-1 catalytic subunit; calpain-1 large subunit; CANP; CANP 1; CANP1; CANPL1; cell proliferation-inducing gene 30 protein; cell proliferation-inducing protein 30; micromolar-calpain; muCANP; muCL; SPG76
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh38.p13 Ensembl1165,180,566 - 65,212,006 (+)EnsemblGRCh38hg38GRCh38
GRCh381165,181,373 - 65,212,006 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371164,948,844 - 64,979,477 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361164,705,919 - 64,736,052 (+)NCBINCBI36hg18NCBI36
Build 341164,705,918 - 64,736,052NCBI
Celera1162,275,660 - 62,305,793 (+)NCBI
Cytogenetic Map11q13.1NCBI
HuRef1161,275,919 - 61,306,719 (+)NCBIHuRef
CHM1_11164,832,312 - 64,863,095 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-colchicine  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (ISO)
4-vinylcyclohexene dioxide  (ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (ISO)
aloxistatin  (EXP)
alprazolam  (EXP)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
arsenous acid  (EXP,ISO)
BAPTA  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
C60 fullerene  (ISO)
caffeine  (EXP)
calcium atom  (EXP,ISO)
calcium carbonate  (EXP)
calcium(0)  (EXP,ISO)
Calpeptin  (EXP,ISO)
cantharidin  (EXP)
carbon disulfide  (ISO)
casticin  (EXP)
chloroacetic acid  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
D-glucose  (EXP,ISO)
dantrolene  (ISO)
DDE  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP,ISO)
dioxygen  (ISO)
elemental selenium  (EXP)
ethanol  (EXP,ISO)
excitatory amino acid agonist  (ISO)
fisetin  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furans  (EXP)
genistein  (EXP)
glucose  (EXP,ISO)
glyphosate  (EXP,ISO)
indometacin  (EXP,ISO)
isoflurane  (ISO)
isoprenaline  (ISO)
lipopolysaccharide  (EXP,ISO)
lumacaftor  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
melatonin  (ISO)
methoxychlor  (ISO)
N-acetyl-L-cysteine  (ISO)
N-Acetylleucyl-leucyl-methioninal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-Vinyl-2-pyrrolidone  (ISO)
NS-398  (ISO)
p-menthan-3-ol  (EXP)
p-toluidine  (ISO)
paracetamol  (EXP)
paraquat  (EXP,ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP,ISO)
sarin  (ISO)
selenium atom  (EXP)
simvastatin  (EXP)
sirolimus  (ISO)
sodium arsenite  (ISO)
sodium chloride  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sulfur dioxide  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
trichostatin A  (ISO)
Triptolide  (ISO)
undecane  (ISO)
valproic acid  (EXP)
Z-Val-Phe-H  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1656060   PMID:2209092   PMID:2400579   PMID:2407243   PMID:2844821   PMID:3017764   PMID:3038169   PMID:7493986   PMID:7499244   PMID:7592818   PMID:8253784   PMID:8561910  
PMID:8695851   PMID:8702541   PMID:8769305   PMID:8938448   PMID:8954105   PMID:8954122   PMID:8993318   PMID:9110986   PMID:9271093   PMID:9407132   PMID:9852298   PMID:9989581  
PMID:10521480   PMID:10677567   PMID:10830966   PMID:10846184   PMID:10978167   PMID:11516996   PMID:11861304   PMID:12000759   PMID:12121992   PMID:12150984   PMID:12200134   PMID:12358155  
PMID:12393869   PMID:12432277   PMID:12477932   PMID:12591934   PMID:12684003   PMID:12843408   PMID:14559243   PMID:14612448   PMID:14702039   PMID:14980313   PMID:15131115   PMID:15231747  
PMID:15302874   PMID:15471877   PMID:15488707   PMID:15489334   PMID:15590628   PMID:15663601   PMID:15809056   PMID:15935327   PMID:15948206   PMID:15950654   PMID:15975558   PMID:16107503  
PMID:16150694   PMID:16344560   PMID:16361262   PMID:16411745   PMID:16530191   PMID:16598790   PMID:16697376   PMID:16737952   PMID:16740134   PMID:16908521   PMID:16998475   PMID:17121855  
PMID:17157313   PMID:17195093   PMID:17264674   PMID:17359359   PMID:17526495   PMID:17620599   PMID:17690304   PMID:17716656   PMID:17765980   PMID:17897354   PMID:17908236   PMID:17977825  
PMID:18029348   PMID:18032503   PMID:18070881   PMID:18071073   PMID:18085799   PMID:18165173   PMID:18468730   PMID:18498295   PMID:18624398   PMID:18624772   PMID:18726991   PMID:18793761  
PMID:18806756   PMID:18823990   PMID:19022302   PMID:19056867   PMID:19199708   PMID:19457105   PMID:19458911   PMID:19617626   PMID:19712109   PMID:19738201   PMID:19901552   PMID:19946330  
PMID:20034566   PMID:20041182   PMID:20193680   PMID:20301317   PMID:20398180   PMID:20514436   PMID:20518497   PMID:20557290   PMID:20659425   PMID:20679491   PMID:20933204   PMID:20962236  
PMID:21209906   PMID:21268016   PMID:21305563   PMID:21315622   PMID:21374734   PMID:21423176   PMID:21442128   PMID:21494752   PMID:21516125   PMID:21531719   PMID:21555338   PMID:21808066  
PMID:21825064   PMID:21839844   PMID:21873635   PMID:21876002   PMID:21880013   PMID:21988832   PMID:22145905   PMID:22190034   PMID:22335024   PMID:22449977   PMID:22477191   PMID:22480599  
PMID:22535953   PMID:22586326   PMID:22623428   PMID:22805611   PMID:22863883   PMID:22990118   PMID:23289183   PMID:23376485   PMID:23400779   PMID:23408424   PMID:23443559   PMID:23515028  
PMID:23533145   PMID:23707407   PMID:23707532   PMID:23733271   PMID:23824909   PMID:23919677   PMID:24359561   PMID:24413738   PMID:24416790   PMID:24462114   PMID:24670325   PMID:24691096  
PMID:25086406   PMID:25241761   PMID:25309925   PMID:25336645   PMID:25476568   PMID:25918155   PMID:25921289   PMID:25963833   PMID:26063807   PMID:26124079   PMID:26172506   PMID:26186194  
PMID:26284543   PMID:26317226   PMID:26344197   PMID:26496610   PMID:26496999   PMID:26638075   PMID:26974309   PMID:26974350   PMID:27036949   PMID:27130368   PMID:27153400   PMID:27320912  
PMID:27349634   PMID:27456359   PMID:27684187   PMID:27742573   PMID:28192161   PMID:28334907   PMID:28498452   PMID:28514442   PMID:28533407   PMID:28536704   PMID:28611215   PMID:28686728  
PMID:29047085   PMID:29053956   PMID:29467282   PMID:29509190   PMID:29572388   PMID:29614685   PMID:29955894   PMID:29993134   PMID:30021884   PMID:30110629   PMID:30177525   PMID:30177812  
PMID:30425303   PMID:30462309   PMID:30561431   PMID:30572172   PMID:30575818   PMID:30711629   PMID:30796192   PMID:30959065   PMID:31002357   PMID:31023339   PMID:31262726   PMID:31318583  
PMID:31395734   PMID:31594818   PMID:31878359   PMID:31980649   PMID:32332747   PMID:32395869   PMID:32544313   PMID:32814053   PMID:33060197   PMID:33078830  


Genomics

Comparative Map Data
CAPN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1165,180,566 - 65,212,006 (+)EnsemblGRCh38hg38GRCh38
GRCh381165,181,373 - 65,212,006 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371164,948,844 - 64,979,477 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361164,705,919 - 64,736,052 (+)NCBINCBI36hg18NCBI36
Build 341164,705,918 - 64,736,052NCBI
Celera1162,275,660 - 62,305,793 (+)NCBI
Cytogenetic Map11q13.1NCBI
HuRef1161,275,919 - 61,306,719 (+)NCBIHuRef
CHM1_11164,832,312 - 64,863,095 (+)NCBICHM1_1
Capn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39196,038,573 - 6,065,855 (-)NCBIGRCm39mm39
GRCm39 Ensembl196,038,573 - 6,065,927 (-)Ensembl
GRCm38195,988,545 - 6,015,825 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl195,988,545 - 6,015,897 (-)EnsemblGRCm38mm10GRCm38
MGSCv37195,988,545 - 6,015,825 (-)NCBIGRCm37mm9NCBIm37
MGSCv36195,988,545 - 6,015,151 (-)NCBImm8
Celera195,858,975 - 5,885,371 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map194.34NCBI
Capn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21203,275,912 - 203,300,848 (-)NCBI
Rnor_6.0 Ensembl1221,346,066 - 221,370,322 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01221,346,081 - 221,370,965 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01228,280,716 - 228,306,187 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41208,620,286 - 208,645,007 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11208,773,739 - 208,798,460 (-)NCBI
Celera1200,809,826 - 200,833,901 (-)NCBICelera
Cytogenetic Map1q43NCBI
Capn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542220,004,426 - 20,025,708 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542220,006,448 - 20,026,984 (-)NCBIChiLan1.0ChiLan1.0
CAPN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11163,884,451 - 63,916,731 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1163,886,015 - 63,916,021 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01160,545,837 - 60,576,631 (+)NCBIMhudiblu_PPA_v0panPan3
CAPN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11851,983,266 - 52,010,831 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1851,983,824 - 52,010,757 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1850,591,530 - 50,619,992 (-)NCBI
ROS_Cfam_1.01853,024,769 - 53,053,236 (-)NCBI
UMICH_Zoey_3.11852,121,242 - 52,149,446 (-)NCBI
UNSW_CanFamBas_1.01851,694,854 - 51,723,087 (-)NCBI
UU_Cfam_GSD_1.01852,489,182 - 52,517,646 (-)NCBI
Capn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049477,736,614 - 7,759,589 (-)NCBI
SpeTri2.0NW_0049365994,178,963 - 4,201,037 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAPN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl26,997,516 - 7,081,432 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.126,997,513 - 7,024,410 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.226,129,549 - 6,155,985 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CAPN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.119,014,087 - 9,050,389 (-)NCBI
ChlSab1.1 Ensembl19,014,084 - 9,049,804 (-)Ensembl
Vero_WHO_p1.0NW_023666038106,399,098 - 106,431,434 (-)NCBI
Capn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476721,146,310 - 21,169,593 (-)NCBI

Position Markers
D11S3744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371164,975,845 - 64,976,075UniSTSGRCh37
Build 361164,732,421 - 64,732,651RGDNCBI36
Celera1162,302,162 - 62,302,392RGD
Cytogenetic Map11q13UniSTS
HuRef1161,303,087 - 61,303,317UniSTS
G33105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371164,975,846 - 64,975,954UniSTSGRCh37
Build 361164,732,422 - 64,732,530RGDNCBI36
Celera1162,302,163 - 62,302,271RGD
Cytogenetic Map11q13UniSTS
HuRef1161,303,088 - 61,303,196UniSTS
SGC31567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371164,978,819 - 64,979,025UniSTSGRCh37
Build 361164,735,395 - 64,735,601RGDNCBI36
Celera1162,305,136 - 62,305,342RGD
Cytogenetic Map11q13UniSTS
HuRef1161,306,061 - 61,306,267UniSTS
GeneMap99-GB4 RH Map11249.86UniSTS
Whitehead-RH Map11337.6UniSTS
NCBI RH Map11573.2UniSTS
RH48703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,240,044 - 124,240,223UniSTSGRCh37
Build 368124,309,225 - 124,309,404RGDNCBI36
Celera8120,429,083 - 120,429,262RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q24.13UniSTS
HuRef8119,565,664 - 119,565,843UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
NCBI RH Map81461.6UniSTS
RH11707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371164,979,252 - 64,979,434UniSTSGRCh37
Build 361164,735,828 - 64,736,010RGDNCBI36
Celera1162,305,569 - 62,305,751RGD
Cytogenetic Map11q13UniSTS
HuRef1161,306,494 - 61,306,676UniSTS
GeneMap99-GB4 RH Map11247.35UniSTS
NCBI RH Map11573.2UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10629
Count of miRNA genes:1129
Interacting mature miRNAs:1451
Transcripts:ENST00000279247, ENST00000524773, ENST00000525013, ENST00000526468, ENST00000526954, ENST00000526966, ENST00000527189, ENST00000527323, ENST00000527469, ENST00000527699, ENST00000527739, ENST00000527887, ENST00000527897, ENST00000528165, ENST00000528396, ENST00000528739, ENST00000529133, ENST00000530442, ENST00000530495, ENST00000530567, ENST00000531068, ENST00000532285, ENST00000533079, ENST00000533129, ENST00000533704, ENST00000533820, ENST00000533909, ENST00000534373
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.


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 2 1
Medium 2431 2915 1693 593 1934 435 4355 2137 3553 412 1307 1603 171 1204 2788 4
Low 5 70 31 31 14 30 1 56 165 6 147 7 3 2 2
Below cutoff 2 2 1 8 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_040008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK022319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY550975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY796340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE018156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA788342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC365116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC372552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000279247   ⟹   ENSP00000279247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,928 - 65,212,006 (+)Ensembl
RefSeq Acc Id: ENST00000524773   ⟹   ENSP00000434176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,745 - 65,212,001 (+)Ensembl
RefSeq Acc Id: ENST00000525013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,206,257 - 65,209,383 (+)Ensembl
RefSeq Acc Id: ENST00000526468   ⟹   ENSP00000433366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,183,336 - 65,188,000 (+)Ensembl
RefSeq Acc Id: ENST00000526954   ⟹   ENSP00000436002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,182,000 - 65,188,019 (+)Ensembl
RefSeq Acc Id: ENST00000526966   ⟹   ENSP00000431528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,723 - 65,185,945 (+)Ensembl
RefSeq Acc Id: ENST00000527189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,931 - 65,186,004 (+)Ensembl
RefSeq Acc Id: ENST00000527323   ⟹   ENSP00000431984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,182,462 - 65,211,987 (+)Ensembl
RefSeq Acc Id: ENST00000527469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,934 - 65,185,937 (+)Ensembl
RefSeq Acc Id: ENST00000527699   ⟹   ENSP00000431172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,182,435 - 65,183,592 (+)Ensembl
RefSeq Acc Id: ENST00000527739   ⟹   ENSP00000433823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,687 - 65,185,945 (+)Ensembl
RefSeq Acc Id: ENST00000527887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,188,245 - 65,188,689 (+)Ensembl
RefSeq Acc Id: ENST00000527897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,185,932 - 65,187,686 (+)Ensembl
RefSeq Acc Id: ENST00000528165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,208,478 - 65,212,005 (+)Ensembl
RefSeq Acc Id: ENST00000528396   ⟹   ENSP00000435847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,180,566 - 65,185,950 (+)Ensembl
RefSeq Acc Id: ENST00000528739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,919 - 65,183,582 (+)Ensembl
RefSeq Acc Id: ENST00000529133   ⟹   ENSP00000432512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,037 - 65,186,033 (+)Ensembl
RefSeq Acc Id: ENST00000530442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,800 - 65,183,668 (+)Ensembl
RefSeq Acc Id: ENST00000530495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,203,372 - 65,206,669 (+)Ensembl
RefSeq Acc Id: ENST00000530567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,209,144 - 65,212,006 (+)Ensembl
RefSeq Acc Id: ENST00000531068   ⟹   ENSP00000435092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,182,435 - 65,183,503 (+)Ensembl
RefSeq Acc Id: ENST00000532285   ⟹   ENSP00000436693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,931 - 65,182,890 (+)Ensembl
RefSeq Acc Id: ENST00000533079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,187,941 - 65,206,075 (+)Ensembl
RefSeq Acc Id: ENST00000533129   ⟹   ENSP00000431686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,733 - 65,211,858 (+)Ensembl
RefSeq Acc Id: ENST00000533704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,208,950 - 65,210,392 (+)Ensembl
RefSeq Acc Id: ENST00000533820   ⟹   ENSP00000435272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,194 - 65,212,006 (+)Ensembl
RefSeq Acc Id: ENST00000533909   ⟹   ENSP00000435198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,182,453 - 65,183,581 (+)Ensembl
RefSeq Acc Id: ENST00000534373   ⟹   ENSP00000431793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,181,938 - 65,183,543 (+)Ensembl
RefSeq Acc Id: NM_001198868   ⟹   NP_001185797
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,181,373 - 65,212,006 (+)NCBI
GRCh371164,948,686 - 64,979,477 (+)ENTREZGENE
HuRef1161,275,919 - 61,306,719 (+)ENTREZGENE
CHM1_11164,832,312 - 64,863,095 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198869   ⟹   NP_001185798
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,181,794 - 65,212,006 (+)NCBI
GRCh371164,948,686 - 64,979,477 (+)ENTREZGENE
HuRef1161,275,919 - 61,306,719 (+)ENTREZGENE
CHM1_11164,832,776 - 64,863,095 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005186   ⟹   NP_005177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,181,928 - 65,212,006 (+)NCBI
GRCh371164,948,686 - 64,979,477 (+)ENTREZGENE
Build 361164,705,919 - 64,736,052 (+)NCBI Archive
HuRef1161,275,919 - 61,306,719 (+)ENTREZGENE
CHM1_11164,832,930 - 64,863,095 (+)NCBI
Sequence:
RefSeq Acc Id: NR_040008
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,181,928 - 65,212,006 (+)NCBI
GRCh371164,948,686 - 64,979,477 (+)ENTREZGENE
HuRef1161,275,919 - 61,306,719 (+)ENTREZGENE
CHM1_11164,832,930 - 64,863,095 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718698   ⟹   XP_006718761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,181,707 - 65,212,006 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545292   ⟹   XP_011543594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,182,435 - 65,212,006 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001185797   ⟸   NM_001198868
- UniProtKB: P07384 (UniProtKB/Swiss-Prot),   B2RDI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185798   ⟸   NM_001198869
- UniProtKB: P07384 (UniProtKB/Swiss-Prot),   B4DWH5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005177   ⟸   NM_005186
- UniProtKB: P07384 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006718761   ⟸   XM_006718698
- Peptide Label: isoform X1
- UniProtKB: P07384 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543594   ⟸   XM_011545292
- Peptide Label: isoform X1
- UniProtKB: P07384 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000435092   ⟸   ENST00000531068
RefSeq Acc Id: ENSP00000436693   ⟸   ENST00000532285
RefSeq Acc Id: ENSP00000431686   ⟸   ENST00000533129
RefSeq Acc Id: ENSP00000435272   ⟸   ENST00000533820
RefSeq Acc Id: ENSP00000435198   ⟸   ENST00000533909
RefSeq Acc Id: ENSP00000431793   ⟸   ENST00000534373
RefSeq Acc Id: ENSP00000434176   ⟸   ENST00000524773
RefSeq Acc Id: ENSP00000433366   ⟸   ENST00000526468
RefSeq Acc Id: ENSP00000436002   ⟸   ENST00000526954
RefSeq Acc Id: ENSP00000431528   ⟸   ENST00000526966
RefSeq Acc Id: ENSP00000431984   ⟸   ENST00000527323
RefSeq Acc Id: ENSP00000433823   ⟸   ENST00000527739
RefSeq Acc Id: ENSP00000431172   ⟸   ENST00000527699
RefSeq Acc Id: ENSP00000435847   ⟸   ENST00000528396
RefSeq Acc Id: ENSP00000279247   ⟸   ENST00000279247
RefSeq Acc Id: ENSP00000432512   ⟸   ENST00000529133
Protein Domains
Calpain catalytic   EF-hand

Promoters
RGD ID:6788566
Promoter ID:HG_KWN:13311
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000279247,   NM_005186,   UC001ODF.1,   UC009YQD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361164,705,256 - 64,705,977 (+)MPROMDB
RGD ID:6850690
Promoter ID:EP73139
Type:multiple initiation site
Name:HS_CAPN1
Description:Calpain 1, (mu/I) large subunit.
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 361164,706,082 - 64,706,142EPD
RGD ID:7220991
Promoter ID:EPDNEW_H16241
Type:initiation region
Name:CAPN1_4
Description:calpain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16240  EPDNEW_H16243  EPDNEW_H16242  EPDNEW_H16244  EPDNEW_H16245  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,181,389 - 65,181,449EPDNEW
RGD ID:7220995
Promoter ID:EPDNEW_H16242
Type:initiation region
Name:CAPN1_2
Description:calpain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16240  EPDNEW_H16241  EPDNEW_H16243  EPDNEW_H16244  EPDNEW_H16245  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,181,717 - 65,181,777EPDNEW
RGD ID:7220993
Promoter ID:EPDNEW_H16243
Type:initiation region
Name:CAPN1_1
Description:calpain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16240  EPDNEW_H16241  EPDNEW_H16242  EPDNEW_H16244  EPDNEW_H16245  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,181,928 - 65,181,988EPDNEW
RGD ID:7220997
Promoter ID:EPDNEW_H16244
Type:initiation region
Name:CAPN1_6
Description:calpain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16240  EPDNEW_H16241  EPDNEW_H16243  EPDNEW_H16242  EPDNEW_H16245  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,182,035 - 65,182,095EPDNEW
RGD ID:7220999
Promoter ID:EPDNEW_H16245
Type:initiation region
Name:CAPN1_5
Description:calpain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16240  EPDNEW_H16241  EPDNEW_H16243  EPDNEW_H16242  EPDNEW_H16244  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,182,459 - 65,182,519EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001198868.1(CAPN1):c.396C>T (p.His132=) single nucleotide variant Malignant melanoma [RCV000069607] Chr11:65183532 [GRCh38]
Chr11:64951003 [GRCh37]
Chr11:64707579 [NCBI36]
Chr11:11q13.1
not provided
NM_001198868.1(CAPN1):c.1165+269C>T single nucleotide variant Lung cancer [RCV000110225] Chr11:65189015 [GRCh38]
Chr11:64956486 [GRCh37]
Chr11:11q13.1
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_005186.4(CAPN1):c.1579C>T (p.Gln527Ter) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV000211052] Chr11:65206793 [GRCh38]
Chr11:64974264 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.407del (p.Pro136fs) deletion Spastic paraplegia 76, autosomal recessive [RCV000211053] Chr11:65183542 [GRCh38]
Chr11:64951013 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.884G>C (p.Arg295Pro) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV000211054] Chr11:65187995 [GRCh38]
Chr11:64955466 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.1605+5G>A single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV000211055] Chr11:65206824 [GRCh38]
Chr11:64974295 [GRCh37]
Chr11:11q13.1
pathogenic|likely pathogenic
NM_005186.4(CAPN1):c.1129_1133del (p.Arg377fs) deletion Spastic paraplegia 76, autosomal recessive [RCV001290098]|not provided [RCV001269989] Chr11:65188708..65188712 [GRCh38]
Chr11:64956179..64956183 [GRCh37]
Chr11:11q13.1
pathogenic|likely pathogenic
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3 copy number gain See cases [RCV000511632] Chr11:64501919..67129258 [GRCh37]
Chr11:11q13.1-13.2
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_005186.4(CAPN1):c.1153C>T (p.Arg385Ter) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV001290099]|not provided [RCV000578698] Chr11:65188734 [GRCh38]
Chr11:64956205 [GRCh37]
Chr11:11q13.1
pathogenic|likely pathogenic
NM_005186.4(CAPN1):c.853C>T (p.Arg285Ter) single nucleotide variant not provided [RCV000579217] Chr11:65187964 [GRCh38]
Chr11:64955435 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.1919T>G (p.Met640Arg) single nucleotide variant not specified [RCV000614158] Chr11:65210073 [GRCh38]
Chr11:64977544 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_005186.4(CAPN1):c.1442G>A (p.Arg481Gln) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV000708580] Chr11:65206551 [GRCh38]
Chr11:64974022 [GRCh37]
Chr11:11q13.1
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_005186.4(CAPN1):c.519G>A (p.Gly173=) single nucleotide variant not provided [RCV000883132] Chr11:65185979 [GRCh38]
Chr11:64953450 [GRCh37]
Chr11:11q13.1
likely benign
NM_005186.4(CAPN1):c.483C>T (p.Asp161=) single nucleotide variant not provided [RCV000881502] Chr11:65185943 [GRCh38]
Chr11:64953414 [GRCh37]
Chr11:11q13.1
benign
NM_005186.4(CAPN1):c.1767G>A (p.Ser589=) single nucleotide variant not provided [RCV000901680] Chr11:65209360 [GRCh38]
Chr11:64976831 [GRCh37]
Chr11:11q13.1
benign
NM_005186.4(CAPN1):c.174T>C (p.Asp58=) single nucleotide variant not provided [RCV000923342] Chr11:65182875 [GRCh38]
Chr11:64950346 [GRCh37]
Chr11:11q13.1
likely benign
NM_005186.4(CAPN1):c.1781T>C (p.Val594Ala) single nucleotide variant not provided [RCV000897901] Chr11:65209374 [GRCh38]
Chr11:64976845 [GRCh37]
Chr11:11q13.1
likely benign
NM_005186.4(CAPN1):c.307A>G (p.Thr103Ala) single nucleotide variant not provided [RCV000893648] Chr11:65183167 [GRCh38]
Chr11:64950638 [GRCh37]
Chr11:11q13.1
benign
NM_005186.4(CAPN1):c.337+10C>T single nucleotide variant not provided [RCV000921422] Chr11:65183207 [GRCh38]
Chr11:64950678 [GRCh37]
Chr11:11q13.1
likely benign
NM_005186.4(CAPN1):c.1864-10G>A single nucleotide variant not provided [RCV000983466] Chr11:65210008 [GRCh38]
Chr11:64977479 [GRCh37]
Chr11:11q13.1
likely benign
NM_005186.4(CAPN1):c.2026G>A (p.Val676Ile) single nucleotide variant not provided [RCV000901254] Chr11:65210419 [GRCh38]
Chr11:64977890 [GRCh37]
Chr11:11q13.1
benign
NM_005186.4(CAPN1):c.531C>T (p.Phe177=) single nucleotide variant not provided [RCV000896197] Chr11:65185991 [GRCh38]
Chr11:64953462 [GRCh37]
Chr11:11q13.1
likely benign
NM_005186.4(CAPN1):c.204G>C (p.Leu68=) single nucleotide variant not provided [RCV000963280] Chr11:65182905 [GRCh38]
Chr11:64950376 [GRCh37]
Chr11:11q13.1
benign
NM_005186.4(CAPN1):c.1332G>C (p.Ala444=) single nucleotide variant not provided [RCV000895474] Chr11:65204849 [GRCh38]
Chr11:64972320 [GRCh37]
Chr11:11q13.1
likely benign
NM_005186.4(CAPN1):c.1320T>A (p.Thr440=) single nucleotide variant not provided [RCV000907841] Chr11:65204837 [GRCh38]
Chr11:64972308 [GRCh37]
Chr11:11q13.1
benign
NM_005186.4(CAPN1):c.1943-4C>A single nucleotide variant not provided [RCV000994658] Chr11:65210332 [GRCh38]
Chr11:64977803 [GRCh37]
Chr11:11q13.1
uncertain significance
dup(11)(q13.1q13.1) duplication Ependymoma [RCV000785872] Chr11:63533279..65429676 [GRCh37]
Chr11:11q13.1
likely pathogenic
NM_005186.4(CAPN1):c.159G>A (p.Gly53=) single nucleotide variant not provided [RCV000893647] Chr11:65182860 [GRCh38]
Chr11:64950331 [GRCh37]
Chr11:11q13.1
benign
NM_005186.4(CAPN1):c.338-1G>A single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV000786858] Chr11:65183473 [GRCh38]
Chr11:64950944 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.1534C>T (p.Arg512Cys) single nucleotide variant not provided [RCV001092066] Chr11:65206643 [GRCh38]
Chr11:64974114 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.188dup (p.Val64fs) duplication not provided [RCV001008845] Chr11:65182883..65182884 [GRCh38]
Chr11:64950354..64950355 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs) deletion Spastic paraplegia 76, autosomal recessive [RCV000988577]|not provided [RCV001008553] Chr11:65186197..65186198 [GRCh38]
Chr11:64953668..64953669 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.606C>T (p.Tyr202=) single nucleotide variant not provided [RCV000932449] Chr11:65186185 [GRCh38]
Chr11:64953656 [GRCh37]
Chr11:11q13.1
likely benign
NM_005186.4(CAPN1):c.1152C>T (p.Cys384=) single nucleotide variant not provided [RCV000961067] Chr11:65188733 [GRCh38]
Chr11:64956204 [GRCh37]
Chr11:11q13.1
benign
NM_005186.4(CAPN1):c.1914C>T (p.Tyr638=) single nucleotide variant not provided [RCV000962175] Chr11:65210068 [GRCh38]
Chr11:64977539 [GRCh37]
Chr11:11q13.1
benign
NM_005186.4(CAPN1):c.1803C>T (p.Gly601=) single nucleotide variant not provided [RCV000908095] Chr11:65209857 [GRCh38]
Chr11:64977328 [GRCh37]
Chr11:11q13.1
likely benign
NM_005186.4(CAPN1):c.1864-5C>T single nucleotide variant not provided [RCV000890126] Chr11:65210013 [GRCh38]
Chr11:64977484 [GRCh37]
Chr11:11q13.1
benign
NM_005186.4(CAPN1):c.723G>A (p.Ala241=) single nucleotide variant not provided [RCV000912018] Chr11:65186302 [GRCh38]
Chr11:64953773 [GRCh37]
Chr11:11q13.1
likely benign
NM_005186.4(CAPN1):c.1597C>T (p.Pro533Ser) single nucleotide variant not provided [RCV000911236] Chr11:65206811 [GRCh38]
Chr11:64974282 [GRCh37]
Chr11:11q13.1
likely benign|conflicting interpretations of pathogenicity
NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV000988578] Chr11:65204693 [GRCh38]
Chr11:64972164 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.1015C>T (p.Arg339Ter) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV001251140] Chr11:65188596 [GRCh38]
Chr11:64956067 [GRCh37]
Chr11:11q13.1
likely pathogenic
NM_005186.4(CAPN1):c.759+1G>T single nucleotide variant not provided [RCV001268454] Chr11:65186339 [GRCh38]
Chr11:64953810 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.414_415insTATGCGGAACCATAGCTT (p.Gln139delinsTyrAlaGluProTer) insertion not provided [RCV001268698] Chr11:65183550..65183551 [GRCh38]
Chr11:64951021..64951022 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.416_417insTA (p.Gln139fs) insertion not provided [RCV001268699] Chr11:65183551..65183552 [GRCh38]
Chr11:64951022..64951023 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.417_418insCTTCAT (p.Ser140_Phe141insLeuHis) insertion not provided [RCV001268700] Chr11:65183553..65183554 [GRCh38]
Chr11:64951024..64951025 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.616_620del (p.Ser206fs) deletion not provided [RCV001268701] Chr11:65186194..65186198 [GRCh38]
Chr11:64953665..64953669 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.759+1G>A single nucleotide variant not provided [RCV001268798] Chr11:65186339 [GRCh38]
Chr11:64953810 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.1697dup (p.Leu566fs) duplication Spastic paraplegia 76, autosomal recessive [RCV001290103] Chr11:65208228..65208229 [GRCh38]
Chr11:64975699..64975700 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.1165+1G>A single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV001290100] Chr11:65188747 [GRCh38]
Chr11:64956218 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.254G>A (p.Trp85Ter) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV001290095] Chr11:65182955 [GRCh38]
Chr11:64950426 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.1341G>C (p.Glu447Asp) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV001290101] Chr11:65204858 [GRCh38]
Chr11:64972329 [GRCh37]
Chr11:11q13.1
pathogenic
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Epilepsy, familial temporal lobe, 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance
NM_005186.4(CAPN1):c.623G>A (p.Gly208Asp) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV001290096] Chr11:65186202 [GRCh38]
Chr11:64953673 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.1005G>A (p.Trp335Ter) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV001290097]|not provided [RCV001269885] Chr11:65188586 [GRCh38]
Chr11:64956057 [GRCh37]
Chr11:11q13.1
pathogenic|likely pathogenic
NM_005186.4(CAPN1):c.929+2T>A single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV001330477] Chr11:65188042 [GRCh38]
Chr11:64955513 [GRCh37]
Chr11:11q13.1
likely pathogenic
NM_005186.4(CAPN1):c.1418_1419del (p.Arg473fs) microsatellite Spastic paraplegia 76, autosomal recessive [RCV001290102] Chr11:65206523..65206524 [GRCh38]
Chr11:64973994..64973995 [GRCh37]
Chr11:11q13.1
pathogenic
NM_005186.4(CAPN1):c.1969G>T (p.Glu657Ter) single nucleotide variant Spastic paraplegia 76, autosomal recessive [RCV001290104]|not provided [RCV001269589] Chr11:65210362 [GRCh38]
Chr11:64977833 [GRCh37]
Chr11:11q13.1
pathogenic|likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1476 AgrOrtholog
COSMIC CAPN1 COSMIC
Ensembl Genes ENSG00000014216 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000279247 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431172 UniProtKB/TrEMBL
  ENSP00000431528 UniProtKB/TrEMBL
  ENSP00000431686 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431793 UniProtKB/TrEMBL
  ENSP00000431984 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432512 UniProtKB/TrEMBL
  ENSP00000433366 UniProtKB/TrEMBL
  ENSP00000433823 UniProtKB/TrEMBL
  ENSP00000434176 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435092 UniProtKB/TrEMBL
  ENSP00000435198 UniProtKB/TrEMBL
  ENSP00000435272 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435847 UniProtKB/TrEMBL
  ENSP00000436002 UniProtKB/TrEMBL
  ENSP00000436693 UniProtKB/TrEMBL
Ensembl Transcript ENST00000279247 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524773 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526468 UniProtKB/TrEMBL
  ENST00000526954 UniProtKB/TrEMBL
  ENST00000526966 UniProtKB/TrEMBL
  ENST00000527323 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527699 UniProtKB/TrEMBL
  ENST00000527739 UniProtKB/TrEMBL
  ENST00000528396 UniProtKB/TrEMBL
  ENST00000529133 UniProtKB/TrEMBL
  ENST00000531068 UniProtKB/TrEMBL
  ENST00000532285 UniProtKB/TrEMBL
  ENST00000533129 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000533820 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000533909 UniProtKB/TrEMBL
  ENST00000534373 UniProtKB/TrEMBL
GTEx ENSG00000014216 GTEx
HGNC ID HGNC:1476 ENTREZGENE
Human Proteome Map CAPN1 Human Proteome Map
InterPro C2_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calpain_cysteine_protease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calpain_domain_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calpain_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calpain_III_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAPN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_cys_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C2_calpain_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:823 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 823 ENTREZGENE
OMIM 114220 OMIM
  616907 OMIM
PANTHER PTHR10183:SF284 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Calpain_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26057 PharmGKB
PRINTS CALPAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CALPAIN_CAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIOL_PROTEASE_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART calpain_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CysPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49758 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R580_HUMAN UniProtKB/TrEMBL
  A0A024R5A3_HUMAN UniProtKB/TrEMBL
  B2RDI5 ENTREZGENE, UniProtKB/TrEMBL
  B4DWH5 ENTREZGENE, UniProtKB/TrEMBL
  CAN1_HUMAN UniProtKB/Swiss-Prot
  E9PIA9_HUMAN UniProtKB/TrEMBL
  E9PJA6_HUMAN UniProtKB/TrEMBL
  E9PJJ3_HUMAN UniProtKB/TrEMBL
  E9PL37_HUMAN UniProtKB/TrEMBL
  E9PLC9_HUMAN UniProtKB/TrEMBL
  E9PLX0_HUMAN UniProtKB/TrEMBL
  E9PMC6_HUMAN UniProtKB/TrEMBL
  E9PQB3_HUMAN UniProtKB/TrEMBL
  E9PRM1_HUMAN UniProtKB/TrEMBL
  E9PSA6_HUMAN UniProtKB/TrEMBL
  P07384 ENTREZGENE
UniProt Secondary Q2TTR0 UniProtKB/Swiss-Prot
  Q6DHV4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 CAPN1  calpain 1    calpain 1, (mu/I) large subunit  Symbol and/or name change 5135510 APPROVED