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P20807

- CAN3_HUMAN

UniProt

P20807 - CAN3_HUMAN

Protein

Calpain-3

Gene

CAPN3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 173 (01 Oct 2014)
      Sequence version 2 (01 Feb 1996)
      Previous versions | rss
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    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 binding Source: IntAct
    8. protein complex scaffold Source: UniProtKB
    9. signal transducer activity Source: ProtInc
    10. sodium ion binding Source: UniProtKB
    11. structural constituent of muscle Source: UniProtKB
    12. 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

    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

    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.
    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

    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.
    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

    MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN    50
    FPIIGVKEKT FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK 100
    RPPEICENPR FIIDGANRTD ICQGELGDCW FLAAIACLTL NQHLLFRVIP 150
    HDQSFIENYA GIFHFQFWRY GEWVDVVIDD CLPTYNNQLV FTKSNHRNEF 200
    WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVAEFFE IRDAPSDMYK 250
    IMKKAIERGS LMGCSIDDGT NMTYGTSPSG LNMGELIARM VRNMDNSLLQ 300
    DSDLDPRGSD ERPTRTIIPV QYETRMACGL VRGHAYSVTG LDEVPFKGEK 350
    VKLVRLRNPW GQVEWNGSWS DRWKDWSFVD KDEKARLQHQ VTEDGEFWMS 400
    YEDFIYHFTK LEICNLTADA LQSDKLQTWT VSVNEGRWVR GCSAGGCRNF 450
    PDTFWTNPQY RLKLLEEDDD PDDSEVICSF LVALMQKNRR KDRKLGASLF 500
    TIGFAIYEVP KEMHGNKQHL QKDFFLYNAS KARSKTYINM REVSQRFRLP 550
    PSEYVIVPST YEPHQEGEFI LRVFSEKRNL SEEVENTISV DRPVKKKKTK 600
    PIIFVSDRAN SNKELGVDQE SEEGKGKTSP DKQKQSPQPQ PGSSDQESEE 650
    QQQFRNIFKQ IAGDDMEICA DELKKVLNTV VNKHKDLKTH GFTLESCRSM 700
    IALMDTDGSG KLNLQEFHHL WNKIKAWQKI FKHYDTDQSG TINSYEMRNA 750
    VNDAGFHLNN QLYDIITMRY ADKHMNIDFD SFICCFVRLE GMFRAFHAFD 800
    KDGDGIIKLN VLEWLQLTMY A 821
    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]
    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 ]
    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.
    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.
    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

    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 1, 2014
    This is version 173 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