Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Calpain-3

Gene

CAPN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Calcium-regulated non-lysosomal thiol-protease.

Catalytic activityi

Broad endopeptidase activity.

Enzyme regulationi

Activated by micromolar concentrations of calcium and inhibited by calpastatin.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei129By similarity1
Active sitei334By similarity1
Active sitei358By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi705 – 7161CuratedAdd BLAST12
Calcium bindingi735 – 7462CuratedAdd BLAST12

GO - Molecular functioni

  • calcium-dependent cysteine-type endopeptidase activity Source: UniProtKB
  • calcium ion binding Source: UniProtKB
  • catalytic activity Source: UniProtKB
  • cysteine-type peptidase activity Source: ProtInc
  • ligase regulator activity Source: UniProtKB
  • peptidase activity Source: UniProtKB
  • protein complex scaffold Source: UniProtKB
  • signal transducer activity Source: ProtInc
  • sodium ion binding Source: UniProtKB
  • structural constituent of muscle Source: UniProtKB
  • titin binding Source: UniProtKB

GO - Biological processi

  • apoptotic process Source: UniProtKB
  • cellular response to calcium ion Source: UniProtKB
  • cellular response to salt stress Source: UniProtKB
  • G1 to G0 transition involved in cell differentiation Source: Ensembl
  • muscle cell cellular homeostasis Source: UniProtKB
  • muscle organ development Source: UniProtKB
  • muscle structure development Source: UniProtKB
  • myofibril assembly Source: UniProtKB
  • negative regulation of apoptotic process Source: UniProtKB
  • negative regulation of protein sumoylation Source: UniProtKB
  • negative regulation of skeletal muscle cell differentiation Source: Ensembl
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of NF-kappaB transcription factor activity Source: UniProtKB
  • positive regulation of proteolysis Source: UniProtKB
  • positive regulation of release of sequestered calcium ion into cytosol Source: UniProtKB
  • positive regulation of satellite cell activation involved in skeletal muscle regeneration Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • protein complex assembly Source: UniProtKB
  • protein localization to membrane Source: UniProtKB
  • proteolysis Source: UniProtKB
  • regulation of catalytic activity Source: UniProtKB
  • regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
  • regulation of myoblast differentiation Source: Ensembl
  • response to calcium ion Source: UniProtKB
  • response to muscle activity Source: UniProtKB
  • sarcomere organization Source: UniProtKB
  • self proteolysis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Thiol protease

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS01773-MONOMER.
BRENDAi3.4.22.54. 2681.
ReactomeiR-HSA-1474228. Degradation of the extracellular matrix.

Protein family/group databases

MEROPSiC02.004.

Names & Taxonomyi

Protein namesi
Recommended name:
Calpain-3 (EC:3.4.22.54)
Alternative name(s):
Calcium-activated neutral proteinase 3
Short name:
CANP 3
Calpain L3
Calpain p94
Muscle-specific calcium-activated neutral protease 3
New calpain 1
Short name:
nCL-1
Gene namesi
Name:CAPN3
Synonyms:CANP3, CANPL3, NCL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:1480. CAPN3.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • intracellular Source: UniProtKB
  • myofibril Source: UniProtKB
  • nucleus Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • protein complex Source: UniProtKB
  • T-tubule Source: UniProtKB
  • Z disc Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 2A (LGMD2A)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset.
See also OMIM:253600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0095484V → I in LGMD2A. Corresponds to variant rs140660066dbSNPEnsembl.1
Natural variantiVAR_00954926P → L in LGMD2A. Corresponds to variant rs762020512dbSNPEnsembl.1
Natural variantiVAR_00955077D → N in LGMD2A. 1
Natural variantiVAR_00955186S → F in LGMD2A; severe. Corresponds to variant rs121434546dbSNPEnsembl.1
Natural variantiVAR_00955293 – 100Missing in LGMD2A. 8
Natural variantiVAR_009554118R → G in LGMD2A. 1
Natural variantiVAR_009555137C → R in LGMD2A. 1
Natural variantiVAR_009556162I → L in LGMD2A. 1
Natural variantiVAR_001363182L → Q in LGMD2A. 1
Natural variantiVAR_009557183P → L in LGMD2A. 1
Natural variantiVAR_009558184T → M in LGMD2A. Corresponds to variant rs35889956dbSNPEnsembl.1
Natural variantiVAR_009559189L → P in LGMD2A. Corresponds to variant rs758795961dbSNPEnsembl.1
Natural variantiVAR_001364200 – 204Missing in LGMD2A. 1 Publication5
Natural variantiVAR_009560214G → S in LGMD2A. Corresponds to variant rs369784333dbSNPEnsembl.1
Natural variantiVAR_009562215 – 221Missing in LGMD2A. 7
Natural variantiVAR_009561215S → P in LGMD2A. 1
Natural variantiVAR_009563217E → K in LGMD2A. Corresponds to variant rs773001194dbSNPEnsembl.1
Natural variantiVAR_009564222G → R in LGMD2A. 1 Publication1
Natural variantiVAR_009565226E → K in LGMD2A. 1
Natural variantiVAR_009566232T → I in LGMD2A. 1
Natural variantiVAR_001365234G → E in LGMD2A. 1
Natural variantiVAR_009568254Missing in LGMD2A. 1
Natural variantiVAR_076561266 – 267Missing in LGMD2A. 2 Publications2
Natural variantiVAR_009569319P → L in LGMD2A. Corresponds to variant rs121434547dbSNPEnsembl.1
Natural variantiVAR_009570334H → Q in LGMD2A. 1
Natural variantiVAR_009571336Y → N in LGMD2A. 1 Publication1
Natural variantiVAR_001366354V → G in LGMD2A. 1
Natural variantiVAR_009572360W → C in LGMD2A. 1 PublicationCorresponds to variant rs267606703dbSNPEnsembl.1
Natural variantiVAR_009573437R → C in LGMD2A. Corresponds to variant rs777483913dbSNPEnsembl.1
Natural variantiVAR_009574440R → W in LGMD2A. Corresponds to variant rs777323132dbSNPEnsembl.1
Natural variantiVAR_009575441G → D in LGMD2A. 1
Natural variantiVAR_009576445G → R in LGMD2A. Corresponds to variant rs773827877dbSNPEnsembl.1
Natural variantiVAR_009577448R → C in LGMD2A. Corresponds to variant rs776043976dbSNPEnsembl.1
Natural variantiVAR_009578448R → G in LGMD2A. Corresponds to variant rs776043976dbSNPEnsembl.1
Natural variantiVAR_009579448R → H in LGMD2A. 1
Natural variantiVAR_009580479S → G in LGMD2A. Corresponds to variant rs201736037dbSNPEnsembl.1
Natural variantiVAR_009581486Q → E in LGMD2A. 1 Publication1
Natural variantiVAR_009582489R → Q in LGMD2A. Corresponds to variant rs147764579dbSNPEnsembl.1
Natural variantiVAR_009583489R → W in LGMD2A. 1 Publication1
Natural variantiVAR_009584490R → Q in LGMD2A. 1 PublicationCorresponds to variant rs121434548dbSNPEnsembl.1
Natural variantiVAR_001367490R → W in LGMD2A. Corresponds to variant rs141656719dbSNPEnsembl.1
Natural variantiVAR_009585493R → W in LGMD2A. Corresponds to variant rs557164942dbSNPEnsembl.1
Natural variantiVAR_009586496G → R in LGMD2A. Corresponds to variant rs761637940dbSNPEnsembl.1
Natural variantiVAR_009587502I → T in LGMD2A. Corresponds to variant rs148044781dbSNPEnsembl.1
Natural variantiVAR_009588541R → Q in LGMD2A. Corresponds to variant rs398123143dbSNPEnsembl.1
Natural variantiVAR_009589567G → W in LGMD2A. Corresponds to variant rs727503839dbSNPEnsembl.1
Natural variantiVAR_001368572R → Q in LGMD2A. 1 PublicationCorresponds to variant rs121434544dbSNPEnsembl.1
Natural variantiVAR_009590572R → W in LGMD2A. 1 Publication1
Natural variantiVAR_009591606S → L in LGMD2A. Corresponds to variant rs199806879dbSNPEnsembl.1
Natural variantiVAR_009592638Q → P in LGMD2A. 1
Natural variantiVAR_009593698R → P in LGMD2A. 1
Natural variantiVAR_009594702A → V in LGMD2A. 2 Publications1
Natural variantiVAR_009595705D → G in LGMD2A. 1
Natural variantiVAR_009596705D → H in LGMD2A. 1
Natural variantiVAR_009597731F → S in LGMD2A. 1
Natural variantiVAR_001369744S → G in LGMD2A. 2 PublicationsCorresponds to variant rs750083132dbSNPEnsembl.1
Natural variantiVAR_009598748R → Q in LGMD2A. 4 PublicationsCorresponds to variant rs587780290dbSNPEnsembl.1
Natural variantiVAR_001370769R → Q in LGMD2A. Corresponds to variant rs80338802dbSNPEnsembl.1
Natural variantiVAR_009599774H → D in LGMD2A; unknown pathological significance. 1
Natural variantiVAR_009600798A → E in LGMD2A; unknown pathological significance. Corresponds to variant rs149095128dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi129C → S: Loss of activity. No effect on CMYA5-binding. 1 Publication1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi825.
MalaCardsiCAPN3.
MIMi253600. phenotype.
OpenTargetsiENSG00000092529.
Orphaneti267. Autosomal recessive limb-girdle muscular dystrophy type 2A.
PharmGKBiPA26061.

Polymorphism and mutation databases

BioMutaiCAPN3.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002077061 – 821Calpain-3Add BLAST821

Proteomic databases

PaxDbiP20807.
PeptideAtlasiP20807.
PRIDEiP20807.

PTM databases

iPTMnetiP20807.
PhosphoSitePlusiP20807.

Expressioni

Tissue specificityi

Isoform I is skeletal muscle specific.

Gene expression databases

BgeeiENSG00000092529.
CleanExiHS_CAPN3.
ExpressionAtlasiP20807. baseline and differential.
GenevisibleiP20807. HS.

Organism-specific databases

HPAiCAB033438.
HPA040052.

Interactioni

Subunit structurei

Interacts with TTN/titin. Interacts with CMYA5; this interaction, which results in CMYA5 proteolysis, may protect CAPN3 from autolysis.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
OSGIN1Q9UJX03EBI-5655000,EBI-9057006
TTNQ8WZ424EBI-5655000,EBI-681210
WDYHV1Q96HA83EBI-5655000,EBI-741158

GO - Molecular functioni

  • protein complex scaffold Source: UniProtKB
  • titin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi107275. 6 interactors.
IntActiP20807. 20 interactors.
MINTiMINT-7990282.
STRINGi9606.ENSP00000380349.

Structurei

Secondary structure

1821
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi654 – 662Combined sources9
Turni663 – 666Combined sources4
Helixi670 – 680Combined sources11
Helixi694 – 704Combined sources11
Beta strandi708 – 712Combined sources5
Helixi714 – 734Combined sources21
Beta strandi740 – 743Combined sources4
Helixi744 – 753Combined sources10
Helixi760 – 770Combined sources11
Beta strandi775 – 778Combined sources4
Helixi779 – 797Combined sources19
Beta strandi804 – 809Combined sources6
Helixi811 – 821Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y9Vmodel-A/B649-821[»]
4OKHX-ray2.45A/B/C642-821[»]
ProteinModelPortaliP20807.
SMRiP20807.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini74 – 417Calpain catalyticPROSITE-ProRule annotationAdd BLAST344
Domaini649 – 683EF-hand 1PROSITE-ProRule annotationAdd BLAST35
Domaini692 – 725EF-hand 2PROSITE-ProRule annotationAdd BLAST34
Domaini722 – 757EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini787 – 821EF-hand 4PROSITE-ProRule annotationAdd BLAST35

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni418 – 586Domain IIIAdd BLAST169
Regioni587 – 649LinkerAdd BLAST63
Regioni650 – 821Domain IVAdd BLAST172

Sequence similaritiesi

Belongs to the peptidase C2 family.Curated
Contains 1 calpain catalytic domain.PROSITE-ProRule annotation
Contains 4 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0045. Eukaryota.
ENOG410XP0B. LUCA.
GeneTreeiENSGT00760000118971.
HOGENOMiHOG000232035.
HOVERGENiHBG012645.
InParanoidiP20807.
KOiK08573.
OMAiFRAFQAF.
OrthoDBiEOG091G049E.
PhylomeDBiP20807.
TreeFamiTF314748.

Family and domain databases

CDDicd00214. Calpain_III. 1 hit.
cd00044. CysPc. 1 hit.
cd00051. EFh. 2 hits.
Gene3Di1.10.238.10. 1 hit.
InterProiIPR033883. C2_III.
IPR022684. Calpain_cysteine_protease.
IPR022682. Calpain_domain_III.
IPR022683. Calpain_III.
IPR029531. CAPN3.
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR000169. Pept_cys_AS.
IPR001300. Peptidase_C2_calpain_cat.
[Graphical view]
PANTHERiPTHR10183:SF320. PTHR10183:SF320. 2 hits.
PfamiPF01067. Calpain_III. 1 hit.
PF13202. EF-hand_5. 1 hit.
PF13833. EF-hand_8. 1 hit.
PF00648. Peptidase_C2. 1 hit.
[Graphical view]
PRINTSiPR00704. CALPAIN.
SMARTiSM00720. calpain_III. 1 hit.
SM00230. CysPc. 1 hit.
SM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF49758. SSF49758. 1 hit.
PROSITEiPS50203. CALPAIN_CAT. 1 hit.
PS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 4 hits.
PS00139. THIOL_PROTEASE_CYS. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform I (identifier: P20807-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN
60 70 80 90 100
FPIIGVKEKT FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK
110 120 130 140 150
RPPEICENPR FIIDGANRTD ICQGELGDCW FLAAIACLTL NQHLLFRVIP
160 170 180 190 200
HDQSFIENYA GIFHFQFWRY GEWVDVVIDD CLPTYNNQLV FTKSNHRNEF
210 220 230 240 250
WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVAEFFE IRDAPSDMYK
260 270 280 290 300
IMKKAIERGS LMGCSIDDGT NMTYGTSPSG LNMGELIARM VRNMDNSLLQ
310 320 330 340 350
DSDLDPRGSD ERPTRTIIPV QYETRMACGL VRGHAYSVTG LDEVPFKGEK
360 370 380 390 400
VKLVRLRNPW GQVEWNGSWS DRWKDWSFVD KDEKARLQHQ VTEDGEFWMS
410 420 430 440 450
YEDFIYHFTK LEICNLTADA LQSDKLQTWT VSVNEGRWVR GCSAGGCRNF
460 470 480 490 500
PDTFWTNPQY RLKLLEEDDD PDDSEVICSF LVALMQKNRR KDRKLGASLF
510 520 530 540 550
TIGFAIYEVP KEMHGNKQHL QKDFFLYNAS KARSKTYINM REVSQRFRLP
560 570 580 590 600
PSEYVIVPST YEPHQEGEFI LRVFSEKRNL SEEVENTISV DRPVKKKKTK
610 620 630 640 650
PIIFVSDRAN SNKELGVDQE SEEGKGKTSP DKQKQSPQPQ PGSSDQESEE
660 670 680 690 700
QQQFRNIFKQ IAGDDMEICA DELKKVLNTV VNKHKDLKTH GFTLESCRSM
710 720 730 740 750
IALMDTDGSG KLNLQEFHHL WNKIKAWQKI FKHYDTDQSG TINSYEMRNA
760 770 780 790 800
VNDAGFHLNN QLYDIITMRY ADKHMNIDFD SFICCFVRLE GMFRAFHAFD
810 820
KDGDGIIKLN VLEWLQLTMY A
Length:821
Mass (Da):94,254
Last modified:February 1, 1996 - v2
Checksum:iBC608E8B67AA2741
GO
Isoform II (identifier: P20807-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     268-315: Missing.
     595-638: Missing.

Show »
Length:729
Mass (Da):84,089
Checksum:iDE8265BA362725FD
GO
Isoform III (identifier: P20807-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     595-600: Missing.

Show »
Length:815
Mass (Da):93,512
Checksum:iE51E96C05024617C
GO
Isoform IV (identifier: P20807-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-512: Missing.

Show »
Length:309
Mass (Da):35,930
Checksum:i8F6F0380D4DE8262
GO
Isoform V (identifier: P20807-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-665: Missing.

Show »
Length:156
Mass (Da):18,246
Checksum:i240D1D4F331C4AA0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0095484V → I in LGMD2A. Corresponds to variant rs140660066dbSNPEnsembl.1
Natural variantiVAR_02227221G → E.1 PublicationCorresponds to variant rs28364364dbSNPEnsembl.1
Natural variantiVAR_00954926P → L in LGMD2A. Corresponds to variant rs762020512dbSNPEnsembl.1
Natural variantiVAR_00955077D → N in LGMD2A. 1
Natural variantiVAR_00955186S → F in LGMD2A; severe. Corresponds to variant rs121434546dbSNPEnsembl.1
Natural variantiVAR_00955293 – 100Missing in LGMD2A. 8
Natural variantiVAR_009553107E → K.Corresponds to variant rs1801505dbSNPEnsembl.1
Natural variantiVAR_009554118R → G in LGMD2A. 1
Natural variantiVAR_009555137C → R in LGMD2A. 1
Natural variantiVAR_015389160A → G.1 PublicationCorresponds to variant rs17592dbSNPEnsembl.1
Natural variantiVAR_009556162I → L in LGMD2A. 1
Natural variantiVAR_001363182L → Q in LGMD2A. 1
Natural variantiVAR_009557183P → L in LGMD2A. 1
Natural variantiVAR_009558184T → M in LGMD2A. Corresponds to variant rs35889956dbSNPEnsembl.1
Natural variantiVAR_009559189L → P in LGMD2A. Corresponds to variant rs758795961dbSNPEnsembl.1
Natural variantiVAR_001364200 – 204Missing in LGMD2A. 1 Publication5
Natural variantiVAR_009560214G → S in LGMD2A. Corresponds to variant rs369784333dbSNPEnsembl.1
Natural variantiVAR_009562215 – 221Missing in LGMD2A. 7
Natural variantiVAR_009561215S → P in LGMD2A. 1
Natural variantiVAR_009563217E → K in LGMD2A. Corresponds to variant rs773001194dbSNPEnsembl.1
Natural variantiVAR_009564222G → R in LGMD2A. 1 Publication1
Natural variantiVAR_009565226E → K in LGMD2A. 1
Natural variantiVAR_009566232T → I in LGMD2A. 1
Natural variantiVAR_001365234G → E in LGMD2A. 1
Natural variantiVAR_009567236A → T.1 PublicationCorresponds to variant rs1801449dbSNPEnsembl.1
Natural variantiVAR_009568254Missing in LGMD2A. 1
Natural variantiVAR_076561266 – 267Missing in LGMD2A. 2 Publications2
Natural variantiVAR_009569319P → L in LGMD2A. Corresponds to variant rs121434547dbSNPEnsembl.1
Natural variantiVAR_009570334H → Q in LGMD2A. 1
Natural variantiVAR_009571336Y → N in LGMD2A. 1 Publication1
Natural variantiVAR_001366354V → G in LGMD2A. 1
Natural variantiVAR_009572360W → C in LGMD2A. 1 PublicationCorresponds to variant rs267606703dbSNPEnsembl.1
Natural variantiVAR_009573437R → C in LGMD2A. Corresponds to variant rs777483913dbSNPEnsembl.1
Natural variantiVAR_009574440R → W in LGMD2A. Corresponds to variant rs777323132dbSNPEnsembl.1
Natural variantiVAR_009575441G → D in LGMD2A. 1
Natural variantiVAR_009576445G → R in LGMD2A. Corresponds to variant rs773827877dbSNPEnsembl.1
Natural variantiVAR_009577448R → C in LGMD2A. Corresponds to variant rs776043976dbSNPEnsembl.1
Natural variantiVAR_009578448R → G in LGMD2A. Corresponds to variant rs776043976dbSNPEnsembl.1
Natural variantiVAR_009579448R → H in LGMD2A. 1
Natural variantiVAR_009580479S → G in LGMD2A. Corresponds to variant rs201736037dbSNPEnsembl.1
Natural variantiVAR_009581486Q → E in LGMD2A. 1 Publication1
Natural variantiVAR_009582489R → Q in LGMD2A. Corresponds to variant rs147764579dbSNPEnsembl.1
Natural variantiVAR_009583489R → W in LGMD2A. 1 Publication1
Natural variantiVAR_009584490R → Q in LGMD2A. 1 PublicationCorresponds to variant rs121434548dbSNPEnsembl.1
Natural variantiVAR_001367490R → W in LGMD2A. Corresponds to variant rs141656719dbSNPEnsembl.1
Natural variantiVAR_009585493R → W in LGMD2A. Corresponds to variant rs557164942dbSNPEnsembl.1
Natural variantiVAR_009586496G → R in LGMD2A. Corresponds to variant rs761637940dbSNPEnsembl.1
Natural variantiVAR_009587502I → T in LGMD2A. Corresponds to variant rs148044781dbSNPEnsembl.1
Natural variantiVAR_009588541R → Q in LGMD2A. Corresponds to variant rs398123143dbSNPEnsembl.1
Natural variantiVAR_009589567G → W in LGMD2A. Corresponds to variant rs727503839dbSNPEnsembl.1
Natural variantiVAR_001368572R → Q in LGMD2A. 1 PublicationCorresponds to variant rs121434544dbSNPEnsembl.1
Natural variantiVAR_009590572R → W in LGMD2A. 1 Publication1
Natural variantiVAR_009591606S → L in LGMD2A. Corresponds to variant rs199806879dbSNPEnsembl.1
Natural variantiVAR_047691622E → A.Corresponds to variant rs11557723dbSNPEnsembl.1
Natural variantiVAR_009592638Q → P in LGMD2A. 1
Natural variantiVAR_009593698R → P in LGMD2A. 1
Natural variantiVAR_009594702A → V in LGMD2A. 2 Publications1
Natural variantiVAR_009595705D → G in LGMD2A. 1
Natural variantiVAR_009596705D → H in LGMD2A. 1
Natural variantiVAR_009597731F → S in LGMD2A. 1
Natural variantiVAR_001369744S → G in LGMD2A. 2 PublicationsCorresponds to variant rs750083132dbSNPEnsembl.1
Natural variantiVAR_009598748R → Q in LGMD2A. 4 PublicationsCorresponds to variant rs587780290dbSNPEnsembl.1
Natural variantiVAR_001370769R → Q in LGMD2A. Corresponds to variant rs80338802dbSNPEnsembl.1
Natural variantiVAR_009599774H → D in LGMD2A; unknown pathological significance. 1
Natural variantiVAR_009600798A → E in LGMD2A; unknown pathological significance. Corresponds to variant rs149095128dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0442551 – 665Missing in isoform V. 1 PublicationAdd BLAST665
Alternative sequenceiVSP_0078131 – 512Missing in isoform IV. 2 PublicationsAdd BLAST512
Alternative sequenceiVSP_005227268 – 315Missing in isoform II. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_005228595 – 638Missing in isoform II. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_005229595 – 600Missing in isoform III. 1 Publication6

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X85030 mRNA. Translation: CAA59403.1.
AF209502 Genomic DNA. Translation: AAL40183.1.
AF127764 mRNA. Translation: AAD28253.1.
AF127765 mRNA. Translation: AAD28254.3.
BT007322 mRNA. Translation: AAP35986.1.
AY902237 Genomic DNA. Translation: AAW69391.1.
AC012651 Genomic DNA. No translation available.
BC003169 mRNA. Translation: AAH03169.1.
BC003521 mRNA. Translation: AAH03521.1.
BC004883 mRNA. Translation: AAH04883.1.
BC007810 mRNA. Translation: AAH07810.3.
BC067126 mRNA. Translation: AAH67126.1.
BC100782 mRNA. Translation: AAI00783.1.
BC107791 mRNA. Translation: AAI07792.1.
BC128605 mRNA. Translation: AAI28606.1.
BC146649 mRNA. Translation: AAI46650.1.
BC146672 mRNA. Translation: AAI46673.1.
CCDSiCCDS10085.1. [P20807-2]
CCDS10086.1. [P20807-5]
CCDS32207.1. [P20807-3]
CCDS45245.1. [P20807-1]
CCDS45246.1. [P20807-4]
PIRiA56218. CIHUH3.
RefSeqiNP_000061.1. NM_000070.2. [P20807-1]
NP_077320.1. NM_024344.1. [P20807-3]
NP_775110.1. NM_173087.1. [P20807-2]
NP_775111.1. NM_173088.1. [P20807-4]
NP_775112.1. NM_173089.1. [P20807-5]
NP_775113.1. NM_173090.1. [P20807-5]
UniGeneiHs.143261.

Genome annotation databases

EnsembliENST00000337571; ENSP00000336840; ENSG00000092529. [P20807-5]
ENST00000349748; ENSP00000183936; ENSG00000092529. [P20807-2]
ENST00000356316; ENSP00000348667; ENSG00000092529. [P20807-5]
ENST00000357568; ENSP00000350181; ENSG00000092529. [P20807-3]
ENST00000397163; ENSP00000380349; ENSG00000092529. [P20807-1]
ENST00000397200; ENSP00000380384; ENSG00000092529. [P20807-4]
ENST00000397204; ENSP00000380387; ENSG00000092529. [P20807-5]
ENST00000569136; ENSP00000455254; ENSG00000092529. [P20807-5]
GeneIDi825.
KEGGihsa:825.
UCSCiuc001zpn.2. human. [P20807-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Leiden Muscular Dystrophy pages

Calpain-3 mutations in LGMD2A

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X85030 mRNA. Translation: CAA59403.1.
AF209502 Genomic DNA. Translation: AAL40183.1.
AF127764 mRNA. Translation: AAD28253.1.
AF127765 mRNA. Translation: AAD28254.3.
BT007322 mRNA. Translation: AAP35986.1.
AY902237 Genomic DNA. Translation: AAW69391.1.
AC012651 Genomic DNA. No translation available.
BC003169 mRNA. Translation: AAH03169.1.
BC003521 mRNA. Translation: AAH03521.1.
BC004883 mRNA. Translation: AAH04883.1.
BC007810 mRNA. Translation: AAH07810.3.
BC067126 mRNA. Translation: AAH67126.1.
BC100782 mRNA. Translation: AAI00783.1.
BC107791 mRNA. Translation: AAI07792.1.
BC128605 mRNA. Translation: AAI28606.1.
BC146649 mRNA. Translation: AAI46650.1.
BC146672 mRNA. Translation: AAI46673.1.
CCDSiCCDS10085.1. [P20807-2]
CCDS10086.1. [P20807-5]
CCDS32207.1. [P20807-3]
CCDS45245.1. [P20807-1]
CCDS45246.1. [P20807-4]
PIRiA56218. CIHUH3.
RefSeqiNP_000061.1. NM_000070.2. [P20807-1]
NP_077320.1. NM_024344.1. [P20807-3]
NP_775110.1. NM_173087.1. [P20807-2]
NP_775111.1. NM_173088.1. [P20807-4]
NP_775112.1. NM_173089.1. [P20807-5]
NP_775113.1. NM_173090.1. [P20807-5]
UniGeneiHs.143261.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y9Vmodel-A/B649-821[»]
4OKHX-ray2.45A/B/C642-821[»]
ProteinModelPortaliP20807.
SMRiP20807.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107275. 6 interactors.
IntActiP20807. 20 interactors.
MINTiMINT-7990282.
STRINGi9606.ENSP00000380349.

Protein family/group databases

MEROPSiC02.004.

PTM databases

iPTMnetiP20807.
PhosphoSitePlusiP20807.

Polymorphism and mutation databases

BioMutaiCAPN3.

Proteomic databases

PaxDbiP20807.
PeptideAtlasiP20807.
PRIDEiP20807.

Protocols and materials databases

DNASUi825.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337571; ENSP00000336840; ENSG00000092529. [P20807-5]
ENST00000349748; ENSP00000183936; ENSG00000092529. [P20807-2]
ENST00000356316; ENSP00000348667; ENSG00000092529. [P20807-5]
ENST00000357568; ENSP00000350181; ENSG00000092529. [P20807-3]
ENST00000397163; ENSP00000380349; ENSG00000092529. [P20807-1]
ENST00000397200; ENSP00000380384; ENSG00000092529. [P20807-4]
ENST00000397204; ENSP00000380387; ENSG00000092529. [P20807-5]
ENST00000569136; ENSP00000455254; ENSG00000092529. [P20807-5]
GeneIDi825.
KEGGihsa:825.
UCSCiuc001zpn.2. human. [P20807-1]

Organism-specific databases

CTDi825.
DisGeNETi825.
GeneCardsiCAPN3.
GeneReviewsiCAPN3.
HGNCiHGNC:1480. CAPN3.
HPAiCAB033438.
HPA040052.
MalaCardsiCAPN3.
MIMi114240. gene.
253600. phenotype.
neXtProtiNX_P20807.
OpenTargetsiENSG00000092529.
Orphaneti267. Autosomal recessive limb-girdle muscular dystrophy type 2A.
PharmGKBiPA26061.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0045. Eukaryota.
ENOG410XP0B. LUCA.
GeneTreeiENSGT00760000118971.
HOGENOMiHOG000232035.
HOVERGENiHBG012645.
InParanoidiP20807.
KOiK08573.
OMAiFRAFQAF.
OrthoDBiEOG091G049E.
PhylomeDBiP20807.
TreeFamiTF314748.

Enzyme and pathway databases

BioCyciZFISH:HS01773-MONOMER.
BRENDAi3.4.22.54. 2681.
ReactomeiR-HSA-1474228. Degradation of the extracellular matrix.

Miscellaneous databases

ChiTaRSiCAPN3. human.
GeneWikiiCAPN3.
GenomeRNAii825.
PROiP20807.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000092529.
CleanExiHS_CAPN3.
ExpressionAtlasiP20807. baseline and differential.
GenevisibleiP20807. HS.

Family and domain databases

CDDicd00214. Calpain_III. 1 hit.
cd00044. CysPc. 1 hit.
cd00051. EFh. 2 hits.
Gene3Di1.10.238.10. 1 hit.
InterProiIPR033883. C2_III.
IPR022684. Calpain_cysteine_protease.
IPR022682. Calpain_domain_III.
IPR022683. Calpain_III.
IPR029531. CAPN3.
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR000169. Pept_cys_AS.
IPR001300. Peptidase_C2_calpain_cat.
[Graphical view]
PANTHERiPTHR10183:SF320. PTHR10183:SF320. 2 hits.
PfamiPF01067. Calpain_III. 1 hit.
PF13202. EF-hand_5. 1 hit.
PF13833. EF-hand_8. 1 hit.
PF00648. Peptidase_C2. 1 hit.
[Graphical view]
PRINTSiPR00704. CALPAIN.
SMARTiSM00720. calpain_III. 1 hit.
SM00230. CysPc. 1 hit.
SM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF49758. SSF49758. 1 hit.
PROSITEiPS50203. CALPAIN_CAT. 1 hit.
PS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 4 hits.
PS00139. THIOL_PROTEASE_CYS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCAN3_HUMAN
AccessioniPrimary (citable) accession number: P20807
Secondary accession number(s): A6H8K6
, Q7L4R0, Q9BQC8, Q9BTU4, Q9Y5S6, Q9Y5S7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: February 1, 1996
Last modified: November 30, 2016
This is version 194 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Peptidase families
    Classification of peptidase families and list of entries
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.