UniProtKB - P20807 (CAN3_HUMAN)
Calpain-3
CAPN3
Functioni
Catalytic activityi
- Broad endopeptidase activity. EC:3.4.22.54
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 129 | PROSITE-ProRule annotation | 1 | |
Active sitei | 334 | PROSITE-ProRule annotation | 1 | |
Active sitei | 358 | PROSITE-ProRule annotation | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 662 – 672 | 1Combined sources1 PublicationAdd BLAST | 11 | |
Calcium bindingi | 705 – 716 | 2PROSITE-ProRule annotationCombined sources1 PublicationAdd BLAST | 12 | |
Calcium bindingi | 735 – 741 | 3PROSITE-ProRule annotationCombined sources1 Publication | 7 | |
Calcium bindingi | 800 – 806 | 4Combined sources1 Publication | 7 |
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
- identical protein binding Source: IntAct
- ligase regulator activity Source: UniProtKB
- molecular adaptor activity Source: UniProtKB
- peptidase activity Source: UniProtKB
- sodium ion binding Source: UniProtKB
- structural constituent of muscle Source: UniProtKB
- titin binding Source: UniProtKB
GO - Biological processi
- apoptotic process Source: UniProtKB
- calcium-dependent self proteolysis 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 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 catabolic process Source: UniProtKB
- protein-containing complex assembly Source: UniProtKB
- protein destabilization 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
Keywordsi
Molecular function | Hydrolase, Protease, Thiol protease |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
BRENDAi | 3.4.22.54, 2681 |
PathwayCommonsi | P20807 |
Reactomei | R-HSA-1474228, Degradation of the extracellular matrix |
SIGNORi | P20807 |
Protein family/group databases
MEROPSi | C02.004 |
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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000092529.22 |
HGNCi | HGNC:1480, CAPN3 |
MIMi | 114240, gene |
neXtProti | NX_P20807 |
Subcellular locationi
Other locations
Cytosol
- cytosol Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
- T-tubule Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- intracellular Source: ProtInc
- myofibril Source: UniProtKB
- protein-containing complex Source: UniProtKB
- Z disc Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1)10 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_009548 | 4 | V → I in LGMDR1. Corresponds to variant dbSNP:rs140660066EnsemblClinVar. | 1 | |
Natural variantiVAR_009549 | 26 | P → L in LGMDR1. Corresponds to variant dbSNP:rs762020512EnsemblClinVar. | 1 | |
Natural variantiVAR_009550 | 77 | D → N in LGMDR1. | 1 | |
Natural variantiVAR_009551 | 86 | S → F in LGMDR1; severe. 1 PublicationCorresponds to variant dbSNP:rs121434546EnsemblClinVar. | 1 | |
Natural variantiVAR_009552 | 93 – 100 | Missing in LGMDR1. | 8 | |
Natural variantiVAR_009554 | 118 | R → G in LGMDR1. Corresponds to variant dbSNP:rs1566973583Ensembl. | 1 | |
Natural variantiVAR_009555 | 137 | C → R in LGMDR1. | 1 | |
Natural variantiVAR_009556 | 162 | I → L in LGMDR1. | 1 | |
Natural variantiVAR_001363 | 182 | L → Q in LGMDR1. | 1 | |
Natural variantiVAR_009557 | 183 | P → L in LGMDR1. | 1 | |
Natural variantiVAR_009559 | 189 | L → P in LGMDR1. Corresponds to variant dbSNP:rs758795961EnsemblClinVar. | 1 | |
Natural variantiVAR_001364 | 200 – 204 | Missing in LGMDR1. 1 Publication | 5 | |
Natural variantiVAR_009560 | 214 | G → S in LGMDR1. Corresponds to variant dbSNP:rs369784333EnsemblClinVar. | 1 | |
Natural variantiVAR_009562 | 215 – 221 | Missing in LGMDR1 and LGMDD4. 3 Publications | 7 | |
Natural variantiVAR_009561 | 215 | S → P in LGMDR1. 1 Publication | 1 | |
Natural variantiVAR_009563 | 217 | E → K in LGMDR1. Corresponds to variant dbSNP:rs773001194EnsemblClinVar. | 1 | |
Natural variantiVAR_009564 | 222 | G → R in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs1345121557EnsemblClinVar. | 1 | |
Natural variantiVAR_009565 | 226 | E → K in LGMDR1. | 1 | |
Natural variantiVAR_009566 | 232 | T → I in LGMDR1. | 1 | |
Natural variantiVAR_001365 | 234 | G → E in LGMDR1. Corresponds to variant dbSNP:rs1555420634EnsemblClinVar. | 1 | |
Natural variantiVAR_009568 | 254 | Missing in LGMDR1. | 1 | |
Natural variantiVAR_076561 | 266 – 267 | Missing in LGMDR1. 2 Publications | 2 | |
Natural variantiVAR_009569 | 319 | P → L in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs121434547EnsemblClinVar. | 1 | |
Natural variantiVAR_009570 | 334 | H → Q in LGMDR1. 1 Publication | 1 | |
Natural variantiVAR_009571 | 336 | Y → N in LGMDR1. 1 Publication | 1 | |
Natural variantiVAR_001366 | 354 | V → G in LGMDR1. Corresponds to variant dbSNP:rs1555421271EnsemblClinVar. | 1 | |
Natural variantiVAR_009572 | 360 | W → C in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs267606703EnsemblClinVar. | 1 | |
Natural variantiVAR_009573 | 437 | R → C in LGMDR1. Corresponds to variant dbSNP:rs777483913EnsemblClinVar. | 1 | |
Natural variantiVAR_009574 | 440 | R → W in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs777323132EnsemblClinVar. | 1 | |
Natural variantiVAR_009575 | 441 | G → D in LGMDR1. | 1 | |
Natural variantiVAR_009576 | 445 | G → R in LGMDR1. Corresponds to variant dbSNP:rs773827877EnsemblClinVar. | 1 | |
Natural variantiVAR_009577 | 448 | R → C in LGMDR1. Corresponds to variant dbSNP:rs776043976EnsemblClinVar. | 1 | |
Natural variantiVAR_009578 | 448 | R → G in LGMDR1. Corresponds to variant dbSNP:rs776043976EnsemblClinVar. | 1 | |
Natural variantiVAR_009579 | 448 | R → H in LGMDR1. Corresponds to variant dbSNP:rs863224956EnsemblClinVar. | 1 | |
Natural variantiVAR_009580 | 479 | S → G in LGMDR1. Corresponds to variant dbSNP:rs201736037EnsemblClinVar. | 1 | |
Natural variantiVAR_009581 | 486 | Q → E in LGMDR1. 1 Publication | 1 | |
Natural variantiVAR_009582 | 489 | R → Q in LGMDR1. Corresponds to variant dbSNP:rs147764579EnsemblClinVar. | 1 | |
Natural variantiVAR_009583 | 489 | R → W in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs863224957EnsemblClinVar. | 1 | |
Natural variantiVAR_009584 | 490 | R → Q in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs121434548EnsemblClinVar. | 1 | |
Natural variantiVAR_001367 | 490 | R → W in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs141656719EnsemblClinVar. | 1 | |
Natural variantiVAR_009585 | 493 | R → W in LGMDR1. Corresponds to variant dbSNP:rs557164942EnsemblClinVar. | 1 | |
Natural variantiVAR_009586 | 496 | G → R in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs761637940Ensembl. | 1 | |
Natural variantiVAR_009587 | 502 | I → T in LGMDR1. Corresponds to variant dbSNP:rs148044781EnsemblClinVar. | 1 | |
Natural variantiVAR_009588 | 541 | R → Q in LGMDR1. Corresponds to variant dbSNP:rs398123143EnsemblClinVar. | 1 | |
Natural variantiVAR_009589 | 567 | G → W in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs727503839EnsemblClinVar. | 1 | |
Natural variantiVAR_001368 | 572 | R → Q in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs121434544EnsemblClinVar. | 1 | |
Natural variantiVAR_009590 | 572 | R → W in LGMDR1. 2 PublicationsCorresponds to variant dbSNP:rs863224959EnsemblClinVar. | 1 | |
Natural variantiVAR_009591 | 606 | S → L in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs199806879EnsemblClinVar. | 1 | |
Natural variantiVAR_009592 | 638 | Q → P in LGMDR1. | 1 | |
Natural variantiVAR_009593 | 698 | R → P in LGMDR1. | 1 | |
Natural variantiVAR_009594 | 702 | A → V in LGMDR1. 3 PublicationsCorresponds to variant dbSNP:rs886042557EnsemblClinVar. | 1 | |
Natural variantiVAR_009595 | 705 | D → G in LGMDR1. | 1 | |
Natural variantiVAR_009596 | 705 | D → H in LGMDR1. | 1 | |
Natural variantiVAR_009597 | 731 | F → S in LGMDR1. | 1 | |
Natural variantiVAR_001369 | 744 | S → G in LGMDR1. 2 PublicationsCorresponds to variant dbSNP:rs750083132EnsemblClinVar. | 1 | |
Natural variantiVAR_009598 | 748 | R → Q in LGMDR1. 5 PublicationsCorresponds to variant dbSNP:rs587780290EnsemblClinVar. | 1 | |
Natural variantiVAR_001370 | 769 | R → Q in LGMDR1. Corresponds to variant dbSNP:rs80338802EnsemblClinVar. | 1 | |
Natural variantiVAR_009599 | 774 | H → D in LGMDR1; unknown pathological significance. | 1 | |
Natural variantiVAR_009600 | 798 | A → E in LGMDR1; unknown pathological significance. Corresponds to variant dbSNP:rs149095128EnsemblClinVar. | 1 |
Muscular dystrophy, limb-girdle, autosomal dominant 4 (LGMDD4)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_009562 | 215 – 221 | Missing in LGMDR1 and LGMDD4. 3 Publications | 7 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 129 | C → S: Loss of activity. No effect on CMYA5-binding. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Limb-girdle muscular dystrophyOrganism-specific databases
DisGeNETi | 825 |
GeneReviewsi | CAPN3 |
MalaCardsi | CAPN3 |
MIMi | 253600, phenotype 618129, phenotype |
OpenTargetsi | ENSG00000092529 |
Orphaneti | 267, Calpain-3-related limb-girdle muscular dystrophy R1 |
PharmGKBi | PA26061 |
Miscellaneous databases
Pharosi | P20807, Tbio |
Chemistry databases
DrugBanki | DB06124, L-aminocarnityl-succinyl-leucyl-argininal-diethylacetal |
Polymorphism and mutation databases
BioMutai | CAPN3 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000207706 | 1 – 821 | Calpain-3Add BLAST | 821 |
Proteomic databases
jPOSTi | P20807 |
MassIVEi | P20807 |
PaxDbi | P20807 |
PeptideAtlasi | P20807 |
PRIDEi | P20807 |
ProteomicsDBi | 53791 [P20807-1] 53792 [P20807-2] 53793 [P20807-3] 53794 [P20807-4] 78657 |
PTM databases
GlyGeni | P20807, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P20807 |
PhosphoSitePlusi | P20807 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000092529, Expressed in muscle of leg and 114 other tissues |
ExpressionAtlasi | P20807, baseline and differential |
Genevisiblei | P20807, HS |
Organism-specific databases
HPAi | ENSG00000092529, Tissue enhanced (brain, skeletal muscle) |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsP20807
With | #Exp. | IntAct |
---|---|---|
NTAQ1 [Q96HA8] | 3 | EBI-5655000,EBI-741158 |
OSGIN1 [Q9UJX0] | 4 | EBI-5655000,EBI-9057006 |
TTN [Q8WZ42] | 4 | EBI-5655000,EBI-681210 |
Isoform II [P20807-2]
With | #Exp. | IntAct |
---|---|---|
TFCP2 [Q12800] | 3 | EBI-16433991,EBI-717422 |
CAPN3 - isoform IV [P20807-4]
GO - Molecular functioni
- identical protein binding Source: IntAct
- titin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 107275, 18 interactors |
IntActi | P20807, 33 interactors |
MINTi | P20807 |
STRINGi | 9606.ENSP00000380349 |
Miscellaneous databases
RNActi | P20807, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P20807 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 74 – 417 | Calpain catalyticPROSITE-ProRule annotationAdd BLAST | 344 | |
Domaini | 649 – 683 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 35 | |
Domaini | 692 – 725 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 34 | |
Domaini | 722 – 757 | EF-hand 3PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 787 – 821 | EF-hand 4PROSITE-ProRule annotationAdd BLAST | 35 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 418 – 586 | Domain IIIAdd BLAST | 169 | |
Regioni | 587 – 649 | LinkerAdd BLAST | 63 | |
Regioni | 650 – 821 | Domain IVAdd BLAST | 172 |
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0045, Eukaryota |
GeneTreei | ENSGT00940000156092 |
HOGENOMi | CLU_010982_0_1_1 |
InParanoidi | P20807 |
OMAi | MEIADNP |
OrthoDBi | 704215at2759 |
PhylomeDBi | P20807 |
TreeFami | TF314748 |
Family and domain databases
CDDi | cd00214, Calpain_III, 1 hit cd00044, CysPc, 1 hit |
InterProi | View protein in InterPro IPR033883, C2_III IPR022684, Calpain_cysteine_protease IPR022682, Calpain_domain_III IPR022683, Calpain_III IPR036213, Calpain_III_sf IPR029531, CAPN3/9 IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR038765, Papain-like_cys_pep_sf IPR000169, Pept_cys_AS IPR001300, Peptidase_C2_calpain_cat |
PANTHERi | PTHR10183:SF329, PTHR10183:SF329, 1 hit |
Pfami | View protein in Pfam PF01067, Calpain_III, 1 hit PF13833, EF-hand_8, 1 hit PF00648, Peptidase_C2, 1 hit |
PRINTSi | PR00704, CALPAIN |
SMARTi | View protein in SMART SM00720, calpain_III, 1 hit SM00230, CysPc, 1 hit SM00054, EFh, 3 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF49758, SSF49758, 1 hit SSF54001, SSF54001, 1 hit |
PROSITEi | View protein in PROSITE PS50203, CALPAIN_CAT, 1 hit PS00018, EF_HAND_1, 2 hits PS50222, EF_HAND_2, 4 hits PS00139, THIOL_PROTEASE_CYS, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 20 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
268-315: Missing.
595-638: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
595-600: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-512: Missing.
Computationally mapped potential isoform sequencesi
There are 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8W8F5 | F8W8F5_HUMAN | Calpain-3 | CAPN3 | 773 | Annotation score: | ||
H3BMH1 | H3BMH1_HUMAN | Calpain-3 | CAPN3 | 255 | Annotation score: | ||
A0A669KAB9 | A0A669KAB9_HUMAN | Calpain-3 | CAPN3 | 202 | Annotation score: | ||
A0A669KB08 | A0A669KB08_HUMAN | Calpain-3 | CAPN3 | 229 | Annotation score: | ||
A0A0S2Z3E6 | A0A0S2Z3E6_HUMAN | Calpain 3 isoform 2 | CAPN3 | 83 | Annotation score: | ||
H3BUZ3 | H3BUZ3_HUMAN | Calpain-3 | CAPN3 | 157 | Annotation score: | ||
H3BV08 | H3BV08_HUMAN | Calpain-3 | CAPN3 | 169 | Annotation score: | ||
H3BS77 | H3BS77_HUMAN | Calpain-3 | CAPN3 | 191 | Annotation score: | ||
H3BSA2 | H3BSA2_HUMAN | Calpain-3 | CAPN3 | 188 | Annotation score: | ||
H3BNN7 | H3BNN7_HUMAN | Calpain-3 | CAPN3 | 110 | Annotation score: | ||
There are more potential isoformsShow all |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_009548 | 4 | V → I in LGMDR1. Corresponds to variant dbSNP:rs140660066EnsemblClinVar. | 1 | |
Natural variantiVAR_022272 | 21 | G → E1 PublicationCorresponds to variant dbSNP:rs28364364EnsemblClinVar. | 1 | |
Natural variantiVAR_009549 | 26 | P → L in LGMDR1. Corresponds to variant dbSNP:rs762020512EnsemblClinVar. | 1 | |
Natural variantiVAR_009550 | 77 | D → N in LGMDR1. | 1 | |
Natural variantiVAR_009551 | 86 | S → F in LGMDR1; severe. 1 PublicationCorresponds to variant dbSNP:rs121434546EnsemblClinVar. | 1 | |
Natural variantiVAR_009552 | 93 – 100 | Missing in LGMDR1. | 8 | |
Natural variantiVAR_009553 | 107 | E → K. Corresponds to variant dbSNP:rs1801505EnsemblClinVar. | 1 | |
Natural variantiVAR_009554 | 118 | R → G in LGMDR1. Corresponds to variant dbSNP:rs1566973583Ensembl. | 1 | |
Natural variantiVAR_009555 | 137 | C → R in LGMDR1. | 1 | |
Natural variantiVAR_015389 | 160 | A → G1 PublicationCorresponds to variant dbSNP:rs17592EnsemblClinVar. | 1 | |
Natural variantiVAR_009556 | 162 | I → L in LGMDR1. | 1 | |
Natural variantiVAR_001363 | 182 | L → Q in LGMDR1. | 1 | |
Natural variantiVAR_009557 | 183 | P → L in LGMDR1. | 1 | |
Natural variantiVAR_009558 | 184 | T → M. Corresponds to variant dbSNP:rs35889956EnsemblClinVar. | 1 | |
Natural variantiVAR_009559 | 189 | L → P in LGMDR1. Corresponds to variant dbSNP:rs758795961EnsemblClinVar. | 1 | |
Natural variantiVAR_001364 | 200 – 204 | Missing in LGMDR1. 1 Publication | 5 | |
Natural variantiVAR_009560 | 214 | G → S in LGMDR1. Corresponds to variant dbSNP:rs369784333EnsemblClinVar. | 1 | |
Natural variantiVAR_009562 | 215 – 221 | Missing in LGMDR1 and LGMDD4. 3 Publications | 7 | |
Natural variantiVAR_009561 | 215 | S → P in LGMDR1. 1 Publication | 1 | |
Natural variantiVAR_009563 | 217 | E → K in LGMDR1. Corresponds to variant dbSNP:rs773001194EnsemblClinVar. | 1 | |
Natural variantiVAR_009564 | 222 | G → R in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs1345121557EnsemblClinVar. | 1 | |
Natural variantiVAR_009565 | 226 | E → K in LGMDR1. | 1 | |
Natural variantiVAR_009566 | 232 | T → I in LGMDR1. | 1 | |
Natural variantiVAR_001365 | 234 | G → E in LGMDR1. Corresponds to variant dbSNP:rs1555420634EnsemblClinVar. | 1 | |
Natural variantiVAR_009567 | 236 | A → T1 PublicationCorresponds to variant dbSNP:rs1801449EnsemblClinVar. | 1 | |
Natural variantiVAR_009568 | 254 | Missing in LGMDR1. | 1 | |
Natural variantiVAR_076561 | 266 – 267 | Missing in LGMDR1. 2 Publications | 2 | |
Natural variantiVAR_009569 | 319 | P → L in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs121434547EnsemblClinVar. | 1 | |
Natural variantiVAR_009570 | 334 | H → Q in LGMDR1. 1 Publication | 1 | |
Natural variantiVAR_009571 | 336 | Y → N in LGMDR1. 1 Publication | 1 | |
Natural variantiVAR_001366 | 354 | V → G in LGMDR1. Corresponds to variant dbSNP:rs1555421271EnsemblClinVar. | 1 | |
Natural variantiVAR_009572 | 360 | W → C in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs267606703EnsemblClinVar. | 1 | |
Natural variantiVAR_009573 | 437 | R → C in LGMDR1. Corresponds to variant dbSNP:rs777483913EnsemblClinVar. | 1 | |
Natural variantiVAR_009574 | 440 | R → W in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs777323132EnsemblClinVar. | 1 | |
Natural variantiVAR_009575 | 441 | G → D in LGMDR1. | 1 | |
Natural variantiVAR_009576 | 445 | G → R in LGMDR1. Corresponds to variant dbSNP:rs773827877EnsemblClinVar. | 1 | |
Natural variantiVAR_009577 | 448 | R → C in LGMDR1. Corresponds to variant dbSNP:rs776043976EnsemblClinVar. | 1 | |
Natural variantiVAR_009578 | 448 | R → G in LGMDR1. Corresponds to variant dbSNP:rs776043976EnsemblClinVar. | 1 | |
Natural variantiVAR_009579 | 448 | R → H in LGMDR1. Corresponds to variant dbSNP:rs863224956EnsemblClinVar. | 1 | |
Natural variantiVAR_009580 | 479 | S → G in LGMDR1. Corresponds to variant dbSNP:rs201736037EnsemblClinVar. | 1 | |
Natural variantiVAR_009581 | 486 | Q → E in LGMDR1. 1 Publication | 1 | |
Natural variantiVAR_009582 | 489 | R → Q in LGMDR1. Corresponds to variant dbSNP:rs147764579EnsemblClinVar. | 1 | |
Natural variantiVAR_009583 | 489 | R → W in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs863224957EnsemblClinVar. | 1 | |
Natural variantiVAR_009584 | 490 | R → Q in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs121434548EnsemblClinVar. | 1 | |
Natural variantiVAR_001367 | 490 | R → W in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs141656719EnsemblClinVar. | 1 | |
Natural variantiVAR_009585 | 493 | R → W in LGMDR1. Corresponds to variant dbSNP:rs557164942EnsemblClinVar. | 1 | |
Natural variantiVAR_009586 | 496 | G → R in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs761637940Ensembl. | 1 | |
Natural variantiVAR_009587 | 502 | I → T in LGMDR1. Corresponds to variant dbSNP:rs148044781EnsemblClinVar. | 1 | |
Natural variantiVAR_009588 | 541 | R → Q in LGMDR1. Corresponds to variant dbSNP:rs398123143EnsemblClinVar. | 1 | |
Natural variantiVAR_009589 | 567 | G → W in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs727503839EnsemblClinVar. | 1 | |
Natural variantiVAR_001368 | 572 | R → Q in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs121434544EnsemblClinVar. | 1 | |
Natural variantiVAR_009590 | 572 | R → W in LGMDR1. 2 PublicationsCorresponds to variant dbSNP:rs863224959EnsemblClinVar. | 1 | |
Natural variantiVAR_009591 | 606 | S → L in LGMDR1. 1 PublicationCorresponds to variant dbSNP:rs199806879EnsemblClinVar. | 1 | |
Natural variantiVAR_047691 | 622 | E → A. Corresponds to variant dbSNP:rs11557723Ensembl. | 1 | |
Natural variantiVAR_009592 | 638 | Q → P in LGMDR1. | 1 | |
Natural variantiVAR_009593 | 698 | R → P in LGMDR1. | 1 | |
Natural variantiVAR_009594 | 702 | A → V in LGMDR1. 3 PublicationsCorresponds to variant dbSNP:rs886042557EnsemblClinVar. | 1 | |
Natural variantiVAR_009595 | 705 | D → G in LGMDR1. | 1 | |
Natural variantiVAR_009596 | 705 | D → H in LGMDR1. | 1 | |
Natural variantiVAR_009597 | 731 | F → S in LGMDR1. | 1 | |
Natural variantiVAR_001369 | 744 | S → G in LGMDR1. 2 PublicationsCorresponds to variant dbSNP:rs750083132EnsemblClinVar. | 1 | |
Natural variantiVAR_009598 | 748 | R → Q in LGMDR1. 5 PublicationsCorresponds to variant dbSNP:rs587780290EnsemblClinVar. | 1 | |
Natural variantiVAR_001370 | 769 | R → Q in LGMDR1. Corresponds to variant dbSNP:rs80338802EnsemblClinVar. | 1 | |
Natural variantiVAR_009599 | 774 | H → D in LGMDR1; unknown pathological significance. | 1 | |
Natural variantiVAR_009600 | 798 | A → E in LGMDR1; unknown pathological significance. Corresponds to variant dbSNP:rs149095128EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044255 | 1 – 665 | Missing in isoform V. 1 PublicationAdd BLAST | 665 | |
Alternative sequenceiVSP_007813 | 1 – 512 | Missing in isoform IV. 2 PublicationsAdd BLAST | 512 | |
Alternative sequenceiVSP_005227 | 268 – 315 | Missing in isoform II. 1 PublicationAdd BLAST | 48 | |
Alternative sequenceiVSP_005228 | 595 – 638 | Missing in isoform II. 1 PublicationAdd BLAST | 44 | |
Alternative sequenceiVSP_005229 | 595 – 600 | Missing in isoform III. 1 Publication | 6 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Leiden Muscular Dystrophy pages Calpain-3 mutations in LGMD2A |
NIEHS-SNPs |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1Y9V | model | - | A/B | 649-821 | [»] | |
4OKH | X-ray | 2.45 | A/B/C | 642-821 | [»] | |
6BDT | X-ray | 2.30 | A/B/C/D | 46-419 | [»] | |
6BGP | X-ray | 2.75 | A/B/C/D | 46-419 | [»] | |
6BJD | X-ray | 2.80 | A/B/C/D | 46-419 | [»] | |
6BKJ | X-ray | 3.20 | A/B/C/D | 46-419 | [»] | |
SMRi | P20807 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107275, 18 interactors |
IntActi | P20807, 33 interactors |
MINTi | P20807 |
STRINGi | 9606.ENSP00000380349 |
Chemistry databases
DrugBanki | DB06124, L-aminocarnityl-succinyl-leucyl-argininal-diethylacetal |
Protein family/group databases
MEROPSi | C02.004 |
PTM databases
GlyGeni | P20807, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P20807 |
PhosphoSitePlusi | P20807 |
Polymorphism and mutation databases
BioMutai | CAPN3 |
Proteomic databases
jPOSTi | P20807 |
MassIVEi | P20807 |
PaxDbi | P20807 |
PeptideAtlasi | P20807 |
PRIDEi | P20807 |
ProteomicsDBi | 53791 [P20807-1] 53792 [P20807-2] 53793 [P20807-3] 53794 [P20807-4] 78657 |
Protocols and materials databases
Antibodypediai | 10719, 176 antibodies |
DNASUi | 825 |
Genome annotation databases
Organism-specific databases
CTDi | 825 |
DisGeNETi | 825 |
EuPathDBi | HostDB:ENSG00000092529.22 |
GeneCardsi | CAPN3 |
GeneReviewsi | CAPN3 |
HGNCi | HGNC:1480, CAPN3 |
HPAi | ENSG00000092529, Tissue enhanced (brain, skeletal muscle) |
MalaCardsi | CAPN3 |
MIMi | 114240, gene 253600, phenotype 618129, phenotype |
neXtProti | NX_P20807 |
OpenTargetsi | ENSG00000092529 |
Orphaneti | 267, Calpain-3-related limb-girdle muscular dystrophy R1 |
PharmGKBi | PA26061 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0045, Eukaryota |
GeneTreei | ENSGT00940000156092 |
HOGENOMi | CLU_010982_0_1_1 |
InParanoidi | P20807 |
OMAi | MEIADNP |
OrthoDBi | 704215at2759 |
PhylomeDBi | P20807 |
TreeFami | TF314748 |
Enzyme and pathway databases
BRENDAi | 3.4.22.54, 2681 |
PathwayCommonsi | P20807 |
Reactomei | R-HSA-1474228, Degradation of the extracellular matrix |
SIGNORi | P20807 |
Miscellaneous databases
BioGRID-ORCSi | 825, 5 hits in 846 CRISPR screens |
ChiTaRSi | CAPN3, human |
GeneWikii | CAPN3 |
GenomeRNAii | 825 |
Pharosi | P20807, Tbio |
PROi | PR:P20807 |
RNActi | P20807, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000092529, Expressed in muscle of leg and 114 other tissues |
ExpressionAtlasi | P20807, baseline and differential |
Genevisiblei | P20807, HS |
Family and domain databases
CDDi | cd00214, Calpain_III, 1 hit cd00044, CysPc, 1 hit |
InterProi | View protein in InterPro IPR033883, C2_III IPR022684, Calpain_cysteine_protease IPR022682, Calpain_domain_III IPR022683, Calpain_III IPR036213, Calpain_III_sf IPR029531, CAPN3/9 IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR038765, Papain-like_cys_pep_sf IPR000169, Pept_cys_AS IPR001300, Peptidase_C2_calpain_cat |
PANTHERi | PTHR10183:SF329, PTHR10183:SF329, 1 hit |
Pfami | View protein in Pfam PF01067, Calpain_III, 1 hit PF13833, EF-hand_8, 1 hit PF00648, Peptidase_C2, 1 hit |
PRINTSi | PR00704, CALPAIN |
SMARTi | View protein in SMART SM00720, calpain_III, 1 hit SM00230, CysPc, 1 hit SM00054, EFh, 3 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF49758, SSF49758, 1 hit SSF54001, SSF54001, 1 hit |
PROSITEi | View protein in PROSITE PS50203, CALPAIN_CAT, 1 hit PS00018, EF_HAND_1, 2 hits PS50222, EF_HAND_2, 4 hits PS00139, THIOL_PROTEASE_CYS, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CAN3_HUMAN | |
Accessioni | P20807Primary (citable) accession number: P20807 Secondary accession number(s): A6H8K6 Q9Y5S7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1991 |
Last sequence update: | February 1, 1996 | |
Last modified: | December 2, 2020 | |
This is version 229 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Peptidase families
Classification of peptidase families and list of entries