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P20807

- CAN3_HUMAN

UniProt

P20807 - CAN3_HUMAN

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Protein

Calpain-3

Gene

CAPN3

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei129 – 1291By similarity
Active sitei334 – 3341By similarity
Active sitei358 – 3581By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi705 – 716121CuratedAdd
BLAST
Calcium bindingi735 – 746122CuratedAdd
BLAST

GO - Molecular functioni

  1. calcium-dependent cysteine-type endopeptidase activity Source: UniProtKB
  2. calcium ion binding Source: UniProtKB
  3. catalytic activity Source: UniProtKB
  4. cysteine-type peptidase activity Source: ProtInc
  5. ligase regulator activity Source: UniProtKB
  6. peptidase activity Source: UniProtKB
  7. protein complex scaffold Source: UniProtKB
  8. signal transducer activity Source: ProtInc
  9. sodium ion binding Source: UniProtKB
  10. structural constituent of muscle Source: UniProtKB
  11. titin binding Source: UniProtKB

GO - Biological processi

  1. apoptotic process Source: UniProtKB
  2. autolysis Source: Ensembl
  3. cellular response to calcium ion Source: UniProtKB
  4. cellular response to salt stress Source: UniProtKB
  5. G1 to G0 transition involved in cell differentiation Source: Ensembl
  6. muscle cell cellular homeostasis Source: UniProtKB
  7. muscle organ development Source: UniProtKB
  8. muscle structure development Source: UniProtKB
  9. myofibril assembly Source: UniProtKB
  10. negative regulation of apoptotic process Source: UniProtKB
  11. negative regulation of protein sumoylation Source: UniProtKB
  12. negative regulation of transcription, DNA-templated Source: UniProtKB
  13. positive regulation of NF-kappaB transcription factor activity Source: UniProtKB
  14. positive regulation of proteolysis Source: UniProtKB
  15. positive regulation of release of sequestered calcium ion into cytosol Source: UniProtKB
  16. positive regulation of satellite cell activation involved in skeletal muscle regeneration Source: UniProtKB
  17. positive regulation of transcription, DNA-templated Source: UniProtKB
  18. protein complex assembly Source: UniProtKB
  19. protein localization to membrane Source: UniProtKB
  20. proteolysis Source: UniProtKB
  21. regulation of catalytic activity Source: UniProtKB
  22. regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
  23. regulation of myoblast differentiation Source: Ensembl
  24. response to calcium ion Source: UniProtKB
  25. response to muscle activity Source: UniProtKB
  26. sarcomere organization Source: UniProtKB
  27. self proteolysis Source: UniProtKB
  28. signal transduction Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Thiol protease

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BRENDAi3.4.22.54. 2681.

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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:1480. CAPN3.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: UniProtKB
  3. intracellular Source: UniProtKB
  4. myofibril Source: UniProtKB
  5. nucleus Source: UniProtKB
  6. plasma membrane Source: UniProtKB
  7. protein complex Source: UniProtKB
  8. T-tubule Source: UniProtKB
  9. Z disc Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]: An 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.8 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41V → I in LGMD2A.
VAR_009548
Natural varianti26 – 261P → L in LGMD2A.
VAR_009549
Natural varianti77 – 771D → N in LGMD2A.
VAR_009550
Natural varianti86 – 861S → F in LGMD2A; severe.
VAR_009551
Natural varianti93 – 1008Missing in LGMD2A.
VAR_009552
Natural varianti118 – 1181R → G in LGMD2A.
VAR_009554
Natural varianti137 – 1371C → R in LGMD2A.
VAR_009555
Natural varianti162 – 1621I → L in LGMD2A.
VAR_009556
Natural varianti182 – 1821L → Q in LGMD2A.
VAR_001363
Natural varianti183 – 1831P → L in LGMD2A.
VAR_009557
Natural varianti184 – 1841T → M in LGMD2A.
Corresponds to variant rs35889956 [ dbSNP | Ensembl ].
VAR_009558
Natural varianti189 – 1891L → P in LGMD2A.
VAR_009559
Natural varianti200 – 2045Missing in LGMD2A. 1 Publication
VAR_001364
Natural varianti214 – 2141G → S in LGMD2A.
VAR_009560
Natural varianti215 – 2217Missing in LGMD2A.
VAR_009562
Natural varianti215 – 2151S → P in LGMD2A.
VAR_009561
Natural varianti217 – 2171E → K in LGMD2A.
VAR_009563
Natural varianti222 – 2221G → R in LGMD2A. 1 Publication
VAR_009564
Natural varianti226 – 2261E → K in LGMD2A.
VAR_009565
Natural varianti232 – 2321T → I in LGMD2A.
VAR_009566
Natural varianti234 – 2341G → E in LGMD2A.
VAR_001365
Natural varianti254 – 2541Missing in LGMD2A.
VAR_009568
Natural varianti319 – 3191P → L in LGMD2A.
VAR_009569
Natural varianti334 – 3341H → Q in LGMD2A.
VAR_009570
Natural varianti336 – 3361Y → N in LGMD2A. 1 Publication
VAR_009571
Natural varianti354 – 3541V → G in LGMD2A.
VAR_001366
Natural varianti360 – 3601W → C in LGMD2A. 1 Publication
VAR_009572
Natural varianti437 – 4371R → C in LGMD2A.
VAR_009573
Natural varianti440 – 4401R → W in LGMD2A.
VAR_009574
Natural varianti441 – 4411G → D in LGMD2A.
VAR_009575
Natural varianti445 – 4451G → R in LGMD2A.
VAR_009576
Natural varianti448 – 4481R → C in LGMD2A.
VAR_009577
Natural varianti448 – 4481R → G in LGMD2A.
VAR_009578
Natural varianti448 – 4481R → H in LGMD2A.
VAR_009579
Natural varianti479 – 4791S → G in LGMD2A.
VAR_009580
Natural varianti486 – 4861Q → E in LGMD2A. 1 Publication
VAR_009581
Natural varianti489 – 4891R → Q in LGMD2A.
VAR_009582
Natural varianti489 – 4891R → W in LGMD2A. 1 Publication
VAR_009583
Natural varianti490 – 4901R → Q in LGMD2A. 1 Publication
VAR_009584
Natural varianti490 – 4901R → W in LGMD2A.
Corresponds to variant rs141656719 [ dbSNP | Ensembl ].
VAR_001367
Natural varianti493 – 4931R → W in LGMD2A.
VAR_009585
Natural varianti496 – 4961G → R in LGMD2A.
VAR_009586
Natural varianti502 – 5021I → T in LGMD2A.
VAR_009587
Natural varianti541 – 5411R → Q in LGMD2A.
VAR_009588
Natural varianti567 – 5671G → W in LGMD2A.
VAR_009589
Natural varianti572 – 5721R → Q in LGMD2A. 1 Publication
VAR_001368
Natural varianti572 – 5721R → W in LGMD2A.
VAR_009590
Natural varianti606 – 6061S → L in LGMD2A.
Corresponds to variant rs199806879 [ dbSNP | Ensembl ].
VAR_009591
Natural varianti638 – 6381Q → P in LGMD2A.
VAR_009592
Natural varianti698 – 6981R → P in LGMD2A.
VAR_009593
Natural varianti702 – 7021A → V in LGMD2A. 1 Publication
VAR_009594
Natural varianti705 – 7051D → G in LGMD2A.
VAR_009595
Natural varianti705 – 7051D → H in LGMD2A.
VAR_009596
Natural varianti731 – 7311F → S in LGMD2A.
VAR_009597
Natural varianti744 – 7441S → G in LGMD2A. 2 Publications
VAR_001369
Natural varianti748 – 7481R → Q in LGMD2A. 2 Publications
VAR_009598
Natural varianti769 – 7691R → Q in LGMD2A.
VAR_001370
Natural varianti774 – 7741H → D in LGMD2A; unknown pathological significance.
VAR_009599
Natural varianti798 – 7981A → E in LGMD2A; unknown pathological significance.
VAR_009600

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi129 – 1291C → S: Loss of activity. No effect on CMYA5-binding. 1 Publication

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 821821Calpain-3PRO_0000207706Add
BLAST

Proteomic databases

PaxDbiP20807.
PRIDEiP20807.

PTM databases

PhosphoSiteiP20807.

Expressioni

Tissue specificityi

Isoform I is skeletal muscle specific.

Gene expression databases

BgeeiP20807.
CleanExiHS_CAPN3.
ExpressionAtlasiP20807. baseline.
GenevestigatoriP20807.

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
TTNQ8WZ424EBI-5655000,EBI-681210

Protein-protein interaction databases

BioGridi107275. 3 interactions.
IntActiP20807. 15 interactions.
MINTiMINT-7990282.
STRINGi9606.ENSP00000380349.

Structurei

Secondary structure

1
821
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi654 – 6629Combined sources
Turni663 – 6664Combined sources
Helixi670 – 68011Combined sources
Helixi694 – 70411Combined sources
Beta strandi708 – 7125Combined sources
Helixi714 – 73421Combined sources
Beta strandi740 – 7434Combined sources
Helixi744 – 75310Combined sources
Helixi760 – 77011Combined sources
Beta strandi775 – 7784Combined sources
Helixi779 – 79719Combined sources
Beta strandi804 – 8096Combined sources
Helixi811 – 82111Combined sources

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1Y9Vmodel-A/B649-821[»]
4OKHX-ray2.45A/B/C642-821[»]
ProteinModelPortaliP20807.
SMRiP20807. Positions 59-821.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini74 – 417344Calpain catalyticPROSITE-ProRule annotationAdd
BLAST
Domaini649 – 68335EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini692 – 72534EF-hand 2PROSITE-ProRule annotationAdd
BLAST
Domaini722 – 75736EF-hand 3PROSITE-ProRule annotationAdd
BLAST
Domaini787 – 82135EF-hand 4PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni418 – 586169Domain IIIAdd
BLAST
Regioni587 – 64963LinkerAdd
BLAST
Regioni650 – 821172Domain IVAdd
BLAST

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

eggNOGiNOG327523.
GeneTreeiENSGT00760000118971.
HOGENOMiHOG000232035.
HOVERGENiHBG012645.
InParanoidiP20807.
KOiK08573.
OMAiGFRLNNQ.
OrthoDBiEOG7RV9FM.
PhylomeDBiP20807.
TreeFamiTF314748.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR022684. 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:SF49. PTHR10183:SF49. 1 hit.
PfamiPF01067. Calpain_III. 1 hit.
PF13405. EF-hand_6. 1 hit.
PF00648. Peptidase_C2. 2 hits.
[Graphical view]
PRINTSiPR00704. CALPAIN.
SMARTiSM00720. calpain_III. 1 hit.
SM00230. CysPc. 1 hit.
SM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF49758. 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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41V → I in LGMD2A.
VAR_009548
Natural varianti21 – 211G → E.1 Publication
Corresponds to variant rs28364364 [ dbSNP | Ensembl ].
VAR_022272
Natural varianti26 – 261P → L in LGMD2A.
VAR_009549
Natural varianti77 – 771D → N in LGMD2A.
VAR_009550
Natural varianti86 – 861S → F in LGMD2A; severe.
VAR_009551
Natural varianti93 – 1008Missing in LGMD2A.
VAR_009552
Natural varianti107 – 1071E → K.
Corresponds to variant rs1801505 [ dbSNP | Ensembl ].
VAR_009553
Natural varianti118 – 1181R → G in LGMD2A.
VAR_009554
Natural varianti137 – 1371C → R in LGMD2A.
VAR_009555
Natural varianti160 – 1601A → G.1 Publication
Corresponds to variant rs17592 [ dbSNP | Ensembl ].
VAR_015389
Natural varianti162 – 1621I → L in LGMD2A.
VAR_009556
Natural varianti182 – 1821L → Q in LGMD2A.
VAR_001363
Natural varianti183 – 1831P → L in LGMD2A.
VAR_009557
Natural varianti184 – 1841T → M in LGMD2A.
Corresponds to variant rs35889956 [ dbSNP | Ensembl ].
VAR_009558
Natural varianti189 – 1891L → P in LGMD2A.
VAR_009559
Natural varianti200 – 2045Missing in LGMD2A. 1 Publication
VAR_001364
Natural varianti214 – 2141G → S in LGMD2A.
VAR_009560
Natural varianti215 – 2217Missing in LGMD2A.
VAR_009562
Natural varianti215 – 2151S → P in LGMD2A.
VAR_009561
Natural varianti217 – 2171E → K in LGMD2A.
VAR_009563
Natural varianti222 – 2221G → R in LGMD2A. 1 Publication
VAR_009564
Natural varianti226 – 2261E → K in LGMD2A.
VAR_009565
Natural varianti232 – 2321T → I in LGMD2A.
VAR_009566
Natural varianti234 – 2341G → E in LGMD2A.
VAR_001365
Natural varianti236 – 2361A → T.1 Publication
Corresponds to variant rs1801449 [ dbSNP | Ensembl ].
VAR_009567
Natural varianti254 – 2541Missing in LGMD2A.
VAR_009568
Natural varianti319 – 3191P → L in LGMD2A.
VAR_009569
Natural varianti334 – 3341H → Q in LGMD2A.
VAR_009570
Natural varianti336 – 3361Y → N in LGMD2A. 1 Publication
VAR_009571
Natural varianti354 – 3541V → G in LGMD2A.
VAR_001366
Natural varianti360 – 3601W → C in LGMD2A. 1 Publication
VAR_009572
Natural varianti437 – 4371R → C in LGMD2A.
VAR_009573
Natural varianti440 – 4401R → W in LGMD2A.
VAR_009574
Natural varianti441 – 4411G → D in LGMD2A.
VAR_009575
Natural varianti445 – 4451G → R in LGMD2A.
VAR_009576
Natural varianti448 – 4481R → C in LGMD2A.
VAR_009577
Natural varianti448 – 4481R → G in LGMD2A.
VAR_009578
Natural varianti448 – 4481R → H in LGMD2A.
VAR_009579
Natural varianti479 – 4791S → G in LGMD2A.
VAR_009580
Natural varianti486 – 4861Q → E in LGMD2A. 1 Publication
VAR_009581
Natural varianti489 – 4891R → Q in LGMD2A.
VAR_009582
Natural varianti489 – 4891R → W in LGMD2A. 1 Publication
VAR_009583
Natural varianti490 – 4901R → Q in LGMD2A. 1 Publication
VAR_009584
Natural varianti490 – 4901R → W in LGMD2A.
Corresponds to variant rs141656719 [ dbSNP | Ensembl ].
VAR_001367
Natural varianti493 – 4931R → W in LGMD2A.
VAR_009585
Natural varianti496 – 4961G → R in LGMD2A.
VAR_009586
Natural varianti502 – 5021I → T in LGMD2A.
VAR_009587
Natural varianti541 – 5411R → Q in LGMD2A.
VAR_009588
Natural varianti567 – 5671G → W in LGMD2A.
VAR_009589
Natural varianti572 – 5721R → Q in LGMD2A. 1 Publication
VAR_001368
Natural varianti572 – 5721R → W in LGMD2A.
VAR_009590
Natural varianti606 – 6061S → L in LGMD2A.
Corresponds to variant rs199806879 [ dbSNP | Ensembl ].
VAR_009591
Natural varianti622 – 6221E → A.
Corresponds to variant rs11557723 [ dbSNP | Ensembl ].
VAR_047691
Natural varianti638 – 6381Q → P in LGMD2A.
VAR_009592
Natural varianti698 – 6981R → P in LGMD2A.
VAR_009593
Natural varianti702 – 7021A → V in LGMD2A. 1 Publication
VAR_009594
Natural varianti705 – 7051D → G in LGMD2A.
VAR_009595
Natural varianti705 – 7051D → H in LGMD2A.
VAR_009596
Natural varianti731 – 7311F → S in LGMD2A.
VAR_009597
Natural varianti744 – 7441S → G in LGMD2A. 2 Publications
VAR_001369
Natural varianti748 – 7481R → Q in LGMD2A. 2 Publications
VAR_009598
Natural varianti769 – 7691R → Q in LGMD2A.
VAR_001370
Natural varianti774 – 7741H → D in LGMD2A; unknown pathological significance.
VAR_009599
Natural varianti798 – 7981A → E in LGMD2A; unknown pathological significance.
VAR_009600

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 665665Missing in isoform V. 1 PublicationVSP_044255Add
BLAST
Alternative sequencei1 – 512512Missing in isoform IV. 2 PublicationsVSP_007813Add
BLAST
Alternative sequencei268 – 31548Missing in isoform II. 1 PublicationVSP_005227Add
BLAST
Alternative sequencei595 – 63844Missing in isoform II. 1 PublicationVSP_005228Add
BLAST
Alternative sequencei595 – 6006Missing in isoform III. 1 PublicationVSP_005229

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc001zpk.1. human. [P20807-3]
uc001zpn.1. human. [P20807-1]
uc001zpp.1. human. [P20807-2]
uc001zpq.1. human. [P20807-4]
uc001zpr.1. human. [P20807-5]

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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10085.1. [P20807-2 ]
CCDS10086.1. [P20807-5 ]
CCDS32207.1. [P20807-3 ]
CCDS45245.1. [P20807-1 ]
CCDS45246.1. [P20807-4 ]
PIRi A56218. CIHUH3.
RefSeqi NP_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 ]
UniGenei Hs.143261.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1Y9V model - A/B 649-821 [» ]
4OKH X-ray 2.45 A/B/C 642-821 [» ]
ProteinModelPortali P20807.
SMRi P20807. Positions 59-821.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107275. 3 interactions.
IntActi P20807. 15 interactions.
MINTi MINT-7990282.
STRINGi 9606.ENSP00000380349.

Protein family/group databases

MEROPSi C02.004.

PTM databases

PhosphoSitei P20807.

Proteomic databases

PaxDbi P20807.
PRIDEi P20807.

Protocols and materials databases

DNASUi 825.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000337571 ; 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 ]
GeneIDi 825.
KEGGi hsa:825.
UCSCi uc001zpk.1. human. [P20807-3 ]
uc001zpn.1. human. [P20807-1 ]
uc001zpp.1. human. [P20807-2 ]
uc001zpq.1. human. [P20807-4 ]
uc001zpr.1. human. [P20807-5 ]

Organism-specific databases

CTDi 825.
GeneCardsi GC15P042640.
GeneReviewsi CAPN3.
HGNCi HGNC:1480. CAPN3.
HPAi CAB033438.
HPA040052.
MIMi 114240. gene.
253600. phenotype.
neXtProti NX_P20807.
Orphaneti 267. Autosomal recessive limb-girdle muscular dystrophy type 2A.
PharmGKBi PA26061.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG327523.
GeneTreei ENSGT00760000118971.
HOGENOMi HOG000232035.
HOVERGENi HBG012645.
InParanoidi P20807.
KOi K08573.
OMAi GFRLNNQ.
OrthoDBi EOG7RV9FM.
PhylomeDBi P20807.
TreeFami TF314748.

Enzyme and pathway databases

BRENDAi 3.4.22.54. 2681.

Miscellaneous databases

ChiTaRSi CAPN3. human.
GeneWikii CAPN3.
GenomeRNAii 825.
NextBioi 3378.
PROi P20807.
SOURCEi Search...

Gene expression databases

Bgeei P20807.
CleanExi HS_CAPN3.
ExpressionAtlasi P20807. baseline.
Genevestigatori P20807.

Family and domain databases

Gene3Di 1.10.238.10. 1 hit.
InterProi 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 ]
PANTHERi PTHR10183:SF49. PTHR10183:SF49. 1 hit.
Pfami PF01067. Calpain_III. 1 hit.
PF13405. EF-hand_6. 1 hit.
PF00648. Peptidase_C2. 2 hits.
[Graphical view ]
PRINTSi PR00704. CALPAIN.
SMARTi SM00720. calpain_III. 1 hit.
SM00230. CysPc. 1 hit.
SM00054. EFh. 3 hits.
[Graphical view ]
SUPFAMi SSF49758. SSF49758. 1 hit.
PROSITEi PS50203. CALPAIN_CAT. 1 hit.
PS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 4 hits.
PS00139. THIOL_PROTEASE_CYS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM I), VARIANTS LGMD2A.
  2. "hCAPN3-hZFP106 genomic sequence."
    Mashima H., Horikawa Y., Cox N.J., Bell G.I.
    Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM I).
  3. "Alternatively exon-spliced isoforms of calpain 3 expressed in human leukocytes."
    Dickson J.M.J., Love D., Evans C.W.E.
    Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS II AND III).
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM IV).
  5. NIEHS SNPs program
    Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLU-21; GLY-160 AND THR-236.
  6. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS IV AND V).
    Tissue: Skin and Uterus.
  8. "Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle."
    Sorimachi H., Imajoh-Ohmi S., Emori Y., Kawasaki H., Ohno S., Minami Y., Suzuki K.
    J. Biol. Chem. 264:20106-20111(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 44-821 (ISOFORM I).
  9. "The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules."
    Miller M.K., Bang M.-L., Witt C.C., Labeit D., Trombitas C., Watanabe K., Granzier H., McElhinny A.S., Gregorio C.C., Labeit S.
    J. Mol. Biol. 333:951-964(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TTN.
  10. Cited for: REVIEW ON VARIANTS.
  11. "Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies."
    Sarparanta J., Blandin G., Charton K., Vihola A., Marchand S., Milic A., Hackman P., Ehler E., Richard I., Udd B.
    J. Biol. Chem. 285:30304-30315(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CMYA5, MUTAGENESIS OF CYS-129.
  12. "Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion island."
    Fardeau M., Hillaire D., Mignard C., Feingold N., Feingold J., Mignard D., de Ubeda B., Collin H., Tome F.M.S., Richard I., Beckmann J.S.
    Brain 119:295-308(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LGMD2A GLN-572 AND GLY-744.
  13. "Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins."
    Richard I., Brenguier L., Dincer P., Roudaut C., Bady B., Burgunder J.-M., Chemaly R., Garcia C.A., Halaby G., Jackson C.E., Kurnit D.M., Lefranc G., Legum C., Loiselet J., Merlini L., Nivelon-Chevallier A., Ollagnon-Roman E., Restagno G., Topaloglu H., Beckmann J.S.
    Am. J. Hum. Genet. 60:1128-1138(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LGMD2A.
  14. Cited for: VARIANTS LGMD2A ASN-336; GLN-490; VAL-702 AND GLN-748.
  15. Cited for: VARIANTS LGMD2A ARG-222; GLU-486; TRP-489 AND GLN-748.
  16. "A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A."
    Haeffner K., Speer A., Huebner C., Voit T., Oexle K.
    Hum. Mutat. Suppl. 1:S298-S300(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LGMD2A 200-PHE--LEU-204 DEL.
  17. "Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings."
    Penisson-Besnier I., Richard I., Dubas F., Beckmann J.S., Fardeau M.
    Muscle Nerve 21:1078-1080(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LGMD2A GLY-744.
  18. "Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families."
    Kawai H., Akaike M., Kunishige M., Inui T., Adachi K., Kimura C., Kawajiri M., Nishida Y., Endo I., Kashiwagi S., Nishino H., Fujiwara T., Okuno S., Roudaut C., Richard I., Beckmann J.S., Miyoshi K., Matsumoto T.
    Muscle Nerve 21:1493-1501(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LGMD2A CYS-360.

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: October 29, 2014
This is version 174 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

External Data

Dasty 3