P20807 (CAN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	CAPN3
Synonyms:	CANP3, CANPL3, NCL1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	821 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Calcium-regulated non-lysosomal thiol-protease.
Catalytic activity	Broad endopeptidase activity.
Enzyme regulation	Activated by micromolar concentrations of calcium and inhibited by calpastatin.
Subunit structure	Interacts with TTN/titin. Ref.9
Subcellular location	Cytoplasm.
Tissue specificity	Isoform I is skeletal muscle specific.
Involvement in disease	Defects in CAPN3 are the cause of limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]. LGMD2A is 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. Ref.1 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17
Sequence similarities	Belongs to the peptidase C2 family. Contains 1 calpain catalytic domain. Contains 4 EF-hand domains.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Limb-girdle muscular dystrophy
Domain	Repeat
Ligand	Calcium
Molecular function	Hydrolase Protease Thiol protease
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	muscle organ development Traceable author statement. Source: ProtInc proteolysis Traceable author statement. Source: UniProtKB
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	calcium ion binding Inferred from electronic annotation. Source: InterPro calcium-dependent cysteine-type endopeptidase activity Traceable author statement. Source: ProtInc signal transducer activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform I (identifier: P20807-1)

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.

Isoform II (identifier: P20807-2)

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

Isoform III (identifier: P20807-3)

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

Isoform IV (identifier: P20807-4)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 821	821	Calpain-3		PRO_0000207706
Regions
	Domain	74 – 417	344	Calpain catalytic
	Domain	649 – 683	35	EF-hand 1
	Domain	692 – 725	34	EF-hand 2
	Domain	722 – 757	36	EF-hand 3
	Domain	787 – 821	35	EF-hand 4
	Calcium binding	705 – 716	12	1 Probable
	Calcium binding	735 – 746	12	2 Probable
	Region	418 – 586	169	Domain III
	Region	587 – 649	63	Linker
	Region	650 – 821	172	Domain IV
Sites
	Active site	129	1	By similarity
	Active site	334	1	By similarity
	Active site	358	1	By similarity
Natural variations
	Alternative sequence	1 – 512	512	Missing in isoform IV.		VSP_007813
	Alternative sequence	268 – 315	48	Missing in isoform II.		VSP_005227
	Alternative sequence	595 – 638	44	Missing in isoform II.		VSP_005228
	Alternative sequence	595 – 600	6	Missing in isoform III.		VSP_005229
	Natural variant	4	1	V → I in LGMD2A.		VAR_009548
	Natural variant	21	1	G → E. Ref.5 Corresponds to variant rs28364364 [ dbSNP | Ensembl ].		VAR_022272
	Natural variant	26	1	P → L in LGMD2A.		VAR_009549
	Natural variant	77	1	D → N in LGMD2A.		VAR_009550
	Natural variant	86	1	S → F in LGMD2A; severe.		VAR_009551
	Natural variant	93 – 100	8	Missing in LGMD2A.		VAR_009552
	Natural variant	107	1	E → K. Corresponds to variant rs1801505 [ dbSNP | Ensembl ].		VAR_009553
	Natural variant	118	1	R → G in LGMD2A.		VAR_009554
	Natural variant	137	1	C → R in LGMD2A.		VAR_009555
	Natural variant	160	1	A → G. Ref.5 Corresponds to variant rs17592 [ dbSNP | Ensembl ].		VAR_015389
	Natural variant	162	1	I → L in LGMD2A.		VAR_009556
	Natural variant	182	1	L → Q in LGMD2A.		VAR_001363
	Natural variant	183	1	P → L in LGMD2A.		VAR_009557
	Natural variant	184	1	T → M in LGMD2A. Corresponds to variant rs35889956 [ dbSNP | Ensembl ].		VAR_009558
	Natural variant	189	1	L → P in LGMD2A.		VAR_009559
	Natural variant	200 – 204	5	Missing in LGMD2A.		VAR_001364
	Natural variant	214	1	G → S in LGMD2A.		VAR_009560
	Natural variant	215 – 221	7	Missing in LGMD2A.		VAR_009562
	Natural variant	215	1	S → P in LGMD2A.		VAR_009561
	Natural variant	217	1	E → K in LGMD2A.		VAR_009563
	Natural variant	222	1	G → R in LGMD2A. Ref.14		VAR_009564
	Natural variant	226	1	E → K in LGMD2A.		VAR_009565
	Natural variant	232	1	T → I in LGMD2A.		VAR_009566
	Natural variant	234	1	G → E in LGMD2A.		VAR_001365
	Natural variant	236	1	A → T. Ref.5 Corresponds to variant rs1801449 [ dbSNP | Ensembl ].		VAR_009567
	Natural variant	254	1	Missing in LGMD2A.		VAR_009568
	Natural variant	319	1	P → L in LGMD2A.		VAR_009569
	Natural variant	334	1	H → Q in LGMD2A.		VAR_009570
	Natural variant	336	1	Y → N in LGMD2A. Ref.13		VAR_009571
	Natural variant	354	1	V → G in LGMD2A.		VAR_001366
	Natural variant	360	1	W → C in LGMD2A. Ref.17		VAR_009572
	Natural variant	437	1	R → C in LGMD2A.		VAR_009573
	Natural variant	440	1	R → W in LGMD2A.		VAR_009574
	Natural variant	441	1	G → D in LGMD2A.		VAR_009575
	Natural variant	445	1	G → R in LGMD2A.		VAR_009576
	Natural variant	448	1	R → C in LGMD2A.		VAR_009577
	Natural variant	448	1	R → G in LGMD2A.		VAR_009578
	Natural variant	448	1	R → H in LGMD2A.		VAR_009579
	Natural variant	479	1	S → G in LGMD2A.		VAR_009580
	Natural variant	486	1	Q → E in LGMD2A. Ref.14		VAR_009581
	Natural variant	489	1	R → Q in LGMD2A.		VAR_009582
	Natural variant	489	1	R → W in LGMD2A. Ref.14		VAR_009583
	Natural variant	490	1	R → Q in LGMD2A. Ref.13		VAR_009584
	Natural variant	490	1	R → W in LGMD2A.		VAR_001367
	Natural variant	493	1	R → W in LGMD2A.		VAR_009585
	Natural variant	496	1	G → R in LGMD2A.		VAR_009586
	Natural variant	502	1	I → T in LGMD2A.		VAR_009587
	Natural variant	541	1	R → Q in LGMD2A.		VAR_009588
	Natural variant	567	1	G → W in LGMD2A.		VAR_009589
	Natural variant	572	1	R → Q in LGMD2A. Ref.11		VAR_001368
	Natural variant	572	1	R → W in LGMD2A.		VAR_009590
	Natural variant	606	1	S → L in LGMD2A.		VAR_009591
	Natural variant	622	1	E → A. Corresponds to variant rs11557723 [ dbSNP | Ensembl ].		VAR_047691
	Natural variant	638	1	Q → P in LGMD2A.		VAR_009592
	Natural variant	698	1	R → P in LGMD2A.		VAR_009593
	Natural variant	702	1	A → V in LGMD2A. Ref.13		VAR_009594
	Natural variant	705	1	D → G in LGMD2A.		VAR_009595
	Natural variant	705	1	D → H in LGMD2A.		VAR_009596
	Natural variant	731	1	F → S in LGMD2A.		VAR_009597
	Natural variant	744	1	S → G in LGMD2A. Ref.11 Ref.16		VAR_001369
	Natural variant	748	1	R → Q in LGMD2A. Ref.13 Ref.14		VAR_009598
	Natural variant	769	1	R → Q in LGMD2A.		VAR_001370
	Natural variant	774	1	H → D in LGMD2A; could be a rare polymorphism.		VAR_009599
	Natural variant	798	1	A → E in LGMD2A; could be a rare polymorphism.		VAR_009600

Sequences

	Sequence		Length	Mass (Da)
	Isoform I [UniParc]. Last modified February 1, 1996. Version 2. Checksum: BC608E8B67AA2741	FASTA	821	94,254
	10 20 30 40 50 60 MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT 70 80 90 100 110 120 FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD 130 140 150 160 170 180 ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD 190 200 210 220 230 240 CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVAEFFE 250 260 270 280 290 300 IRDAPSDMYK IMKKAIERGS LMGCSIDDGT NMTYGTSPSG LNMGELIARM VRNMDNSLLQ 310 320 330 340 350 360 DSDLDPRGSD ERPTRTIIPV QYETRMACGL VRGHAYSVTG LDEVPFKGEK VKLVRLRNPW 370 380 390 400 410 420 GQVEWNGSWS DRWKDWSFVD KDEKARLQHQ VTEDGEFWMS YEDFIYHFTK LEICNLTADA 430 440 450 460 470 480 LQSDKLQTWT VSVNEGRWVR GCSAGGCRNF PDTFWTNPQY RLKLLEEDDD PDDSEVICSF 490 500 510 520 530 540 LVALMQKNRR KDRKLGASLF TIGFAIYEVP KEMHGNKQHL QKDFFLYNAS KARSKTYINM 550 560 570 580 590 600 REVSQRFRLP PSEYVIVPST YEPHQEGEFI LRVFSEKRNL SEEVENTISV DRPVKKKKTK 610 620 630 640 650 660 PIIFVSDRAN SNKELGVDQE SEEGKGKTSP DKQKQSPQPQ PGSSDQESEE QQQFRNIFKQ 670 680 690 700 710 720 IAGDDMEICA DELKKVLNTV VNKHKDLKTH GFTLESCRSM IALMDTDGSG KLNLQEFHHL 730 740 750 760 770 780 WNKIKAWQKI FKHYDTDQSG TINSYEMRNA VNDAGFHLNN QLYDIITMRY ADKHMNIDFD 790 800 810 820 SFICCFVRLE GMFRAFHAFD KDGDGIIKLN VLEWLQLTMY A
	Isoform II [UniParc]. Checksum: DE8265BA362725FD	FASTA	729	84,089
	10 20 30 40 50 60 MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT 70 80 90 100 110 120 FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD 130 140 150 160 170 180 ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD 190 200 210 220 230 240 CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVAEFFE 250 260 270 280 290 300 IRDAPSDMYK IMKKAIERGS LMGCSIDTII PVQYETRMAC GLVRGHAYSV TGLDEVPFKG 310 320 330 340 350 360 EKVKLVRLRN PWGQVEWNGS WSDRWKDWSF VDKDEKARLQ HQVTEDGEFW MSYEDFIYHF 370 380 390 400 410 420 TKLEICNLTA DALQSDKLQT WTVSVNEGRW VRGCSAGGCR NFPDTFWTNP QYRLKLLEED 430 440 450 460 470 480 DDPDDSEVIC SFLVALMQKN RRKDRKLGAS LFTIGFAIYE VPKEMHGNKQ HLQKDFFLYN 490 500 510 520 530 540 ASKARSKTYI NMREVSQRFR LPPSEYVIVP STYEPHQEGE FILRVFSEKR NLSEEVENTI 550 560 570 580 590 600 SVDRPVPQPG SSDQESEEQQ QFRNIFKQIA GDDMEICADE LKKVLNTVVN KHKDLKTHGF 610 620 630 640 650 660 TLESCRSMIA LMDTDGSGKL NLQEFHHLWN KIKAWQKIFK HYDTDQSGTI NSYEMRNAVN 670 680 690 700 710 720 DAGFHLNNQL YDIITMRYAD KHMNIDFDSF ICCFVRLEGM FRAFHAFDKD GDGIIKLNVL EWLQLTMYA
	Isoform III [UniParc]. Checksum: E51E96C05024617C	FASTA	815	93,512
	10 20 30 40 50 60 MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT 70 80 90 100 110 120 FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD 130 140 150 160 170 180 ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD 190 200 210 220 230 240 CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVAEFFE 250 260 270 280 290 300 IRDAPSDMYK IMKKAIERGS LMGCSIDDGT NMTYGTSPSG LNMGELIARM VRNMDNSLLQ 310 320 330 340 350 360 DSDLDPRGSD ERPTRTIIPV QYETRMACGL VRGHAYSVTG LDEVPFKGEK VKLVRLRNPW 370 380 390 400 410 420 GQVEWNGSWS DRWKDWSFVD KDEKARLQHQ VTEDGEFWMS YEDFIYHFTK LEICNLTADA 430 440 450 460 470 480 LQSDKLQTWT VSVNEGRWVR GCSAGGCRNF PDTFWTNPQY RLKLLEEDDD PDDSEVICSF 490 500 510 520 530 540 LVALMQKNRR KDRKLGASLF TIGFAIYEVP KEMHGNKQHL QKDFFLYNAS KARSKTYINM 550 560 570 580 590 600 REVSQRFRLP PSEYVIVPST YEPHQEGEFI LRVFSEKRNL SEEVENTISV DRPVPIIFVS 610 620 630 640 650 660 DRANSNKELG VDQESEEGKG KTSPDKQKQS PQPQPGSSDQ ESEEQQQFRN IFKQIAGDDM 670 680 690 700 710 720 EICADELKKV LNTVVNKHKD LKTHGFTLES CRSMIALMDT DGSGKLNLQE FHHLWNKIKA 730 740 750 760 770 780 WQKIFKHYDT DQSGTINSYE MRNAVNDAGF HLNNQLYDII TMRYADKHMN IDFDSFICCF 790 800 810 VRLEGMFRAF HAFDKDGDGI IKLNVLEWLQ LTMYA
	Isoform IV [UniParc]. Checksum: 8F6F0380D4DE8262	FASTA	309	35,930
	10 20 30 40 50 60 MHGNKQHLQK DFFLYNASKA RSKTYINMRE VSQRFRLPPS EYVIVPSTYE PHQEGEFILR 70 80 90 100 110 120 VFSEKRNLSE EVENTISVDR PVKKKKTKPI IFVSDRANSN KELGVDQESE EGKGKTSPDK 130 140 150 160 170 180 QKQSPQPQPG SSDQESEEQQ QFRNIFKQIA GDDMEICADE LKKVLNTVVN KHKDLKTHGF 190 200 210 220 230 240 TLESCRSMIA LMDTDGSGKL NLQEFHHLWN KIKAWQKIFK HYDTDQSGTI NSYEMRNAVN 250 260 270 280 290 300 DAGFHLNNQL YDIITMRYAD KHMNIDFDSF ICCFVRLEGM FRAFHAFDKD GDGIIKLNVL EWLQLTMYA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A." Richard I., Broux O., Allamand V., Fougerousse F., Chiannilkulchai N., Bourg N., Brenguier L., Devaud C., Pasturaud P., Roudaut C., Hillaire D., Passos-Bueno M.-R., Zatz M., Tischfield J.A., Fardeau M., Jackson C.E., Cohen D., Beckmann J.S. Cell 81:27-40(1995) [PubMed: 7720071] [Abstract] 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: 16572171] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM IV). Tissue: Skin.
[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: 2555341] [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: 14583192] [Abstract] Cited for: INTERACTION WITH TTN.
[10]	"Calpainopathy -- a survey of mutations and polymorphisms." Richard I., Roudaut C., Saenz A., Pogue R., Grimbergen J.E.M.A., Anderson L.V.B., Beley C., Cobo A.-M., de Diego C., Eymard B., Gallano P., Ginjaar H.B., Lasa A., Pollitt C., Topaloglu H., Urtizberea J.A., de Visser M., van der Kooi A. , Bushby K., Bakker E., Lopez de Munain A., Fardeau M., Beckmann J.S. Am. J. Hum. Genet. 64:1524-1540(1999) [PubMed: 10330340] [Abstract] Cited for: REVIEW ON VARIANTS.
[11]	"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: 8624690] [Abstract] Cited for: VARIANTS LGMD2A GLN-572 AND GLY-744.
[12]	"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: 9150160] [Abstract] Cited for: VARIANTS LGMD2A.
[13]	"A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey." Dincer P., Leturcq F., Richard I., Piccolo F., Yalnizoglu D., de Toma C., Akcoeren Z., Broux O., Deburgrave N., Brenguier L., Roudaut C., Urtizberea J.A., Jung D., Tan E., Jeanpierre M., Campbell K.P., Kaplan J.-C., Beckmann J.S., Topaloglu H. Ann. Neurol. 42:222-229(1997) [PubMed: 9266733] [Abstract] Cited for: VARIANTS LGMD2A ASN-336; GLN-490; VAL-702 AND GLN-748.
[14]	"Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain)." Urtasun M., Saenz A., Roudaut C., Poza J.J., Urtizberea J.A., Cobo A.-M., Richard I., Garcia Bragado F., Leturcq F., Kaplan J.-C., Marti Masso J.F., Beckmann J.S., Lopez de Munain A. Brain 121:1735-1747(1998) [PubMed: 9762961] [Abstract] Cited for: VARIANTS LGMD2A ARG-222; GLU-486; TRP-489 AND GLN-748.
[15]	"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: 9452114] [Abstract] Cited for: VARIANT LGMD2A 200-PHE--LEU-204 DEL.
[16]	"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: 9655129] [Abstract] Cited for: VARIANT LGMD2A GLY-744.
[17]	"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: 9771675] [Abstract] Cited for: VARIANT LGMD2A CYS-360.
+	Additional computationally mapped references.

Web resources

Leiden Muscular Dystrophy pages

Calpain-3 mutations in LGMD2A

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.
BC146649 mRNA. Translation: AAI46650.1.
BC146672 mRNA. Translation: AAI46673.1.

IPI

IPI00025819.
IPI00175639.
IPI00218763.
IPI00748752.

PIR

CIHUH3. A56218.

RefSeq

NP_000061.1. NM_000070.2.
NP_077320.1. NM_024344.1.
NP_775110.1. NM_173087.1.
NP_775111.1. NM_173088.1.
NP_775112.1. NM_173089.1.
NP_775113.1. NM_173090.1.

UniGene

Hs.143261.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1Y9V	model	-	A/B	649-821	[»]

ProteinModelPortal

P20807.

SMR

P20807. Positions 49-821.

ModBase

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Protein-protein interaction databases

STRING

P20807.

Protein family/group databases

MEROPS

C02.004.

Polymorphism databases

DMDM

1345664.

Proteomic databases

PRIDE

P20807.

Protocols and materials databases

StructuralBiologyKnowledgebase

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Genome annotation databases

Ensembl

ENST00000397163; ENSP00000380349; ENSG00000092529.

GeneID

825.

KEGG

hsa:825.

UCSC

uc001zpn.1. human.
uc001zpo.1. human.
uc001zpp.1. human.

Organism-specific databases

CTD

825.

GeneCards

GC15P042640.

HGNC

HGNC:1480. CAPN3.

HPA

CAB033438.

MIM

114240. gene.
253600. phenotype.

neXtProt

NX_P20807.

Orphanet

267. Autosomal recessive limb girdle muscular dystrophy type 2A.

PharmGKB

PA26061.

GenAtlas

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Phylogenomic databases

HOGENOM

HBG506448.

HOVERGEN

HBG012645.

InParanoid

P20807.

OMA

GFRLNNQ.

PhylomeDB

P20807.

Enzyme and pathway databases

BRENDA

3.4.22.54. 2681.

Gene expression databases

ArrayExpress

P20807.

Bgee

P20807.

CleanEx

HS_CAPN3.

Genevestigator

P20807.

GermOnline

ENSG00000092529. Homo sapiens.

Family and domain databases

InterPro

IPR022684. Calpain_cysteine_protease.
IPR022682. Calpain_domain_III.
IPR022683. Calpain_III.
IPR011992. EF-hand-like_dom.
IPR018247. EF_Hand_1_Ca_BS.
IPR018249. EF_HAND_2.
IPR002048. EF_hand_Ca-bd.
IPR000169. Pept_cys_AS.
IPR001300. Peptidase_C2_calpain_cat.
[Graphical view]

Gene3D

G3DSA:1.10.238.10. EF-Hand_type. 1 hit.

KO

K08573.

Pfam

PF01067. Calpain_III. 1 hit.
PF00648. Peptidase_C2. 2 hits.
[Graphical view]

PRINTS

PR00704. CALPAIN.

SMART

SM00720. calpain_III. 1 hit.
SM00230. CysPc. 1 hit.
SM00054. EFh. 3 hits.
[Graphical view]

SUPFAM

SSF49758. Peptidase_C2. 1 hit.

PROSITE

PS50203. CALPAIN_CAT. 1 hit.
PS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 4 hits.
PS00640. THIOL_PROTEASE_ASN. False negative.
PS00139. THIOL_PROTEASE_CYS. 1 hit.
PS00639. THIOL_PROTEASE_HIS. False negative.
[Graphical view]

ProtoNet

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Other

NextBio

3378.

SOURCE

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Entry information

Entry name

CAN3_HUMAN

Accession

Primary (citable) accession number: P20807
Secondary accession number(s): A6H8K6 , Q9BTU4, Q9Y5S6, Q9Y5S7

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1991
Last sequence update:	February 1, 1996
Last modified:	January 25, 2012
This is version 144 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.