Skip Header

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

Calpain-3

Gene

CAPN3

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

Functioni

Calcium-regulated non-lysosomal thiol-protease.

Catalytic activityi

Broad endopeptidase activity.

Enzyme regulationi

Activated by micromolar concentrations of calcium and inhibited by calpastatin.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei129PROSITE-ProRule annotation1
Active sitei334PROSITE-ProRule annotation1
Active sitei358PROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi662 – 6721Combined sources1 PublicationAdd BLAST11
Calcium bindingi705 – 7162PROSITE-ProRule annotationCombined sources1 PublicationAdd BLAST12
Calcium bindingi735 – 7413PROSITE-ProRule annotationCombined sources1 Publication7
Calcium bindingi800 – 8064Combined sources1 Publication7

GO - Molecular functioni

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

GO - Biological processi

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

Keywordsi

Molecular functionHydrolase, Protease, Thiol protease
LigandCalcium, Metal-binding

Enzyme and pathway databases

BRENDAi3.4.22.54 2681
ReactomeiR-HSA-1474228 Degradation of the extracellular matrix
SIGNORiP20807

Protein family/group databases

MEROPSiC02.004

Names & Taxonomyi

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

Organism-specific databases

EuPathDBiHostDB:ENSG00000092529.22
HGNCiHGNC:1480 CAPN3
MIMi114240 gene
neXtProtiNX_P20807

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 2A (LGMD2A)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset.
See also OMIM:253600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0095484V → I in LGMD2A. Corresponds to variant dbSNP:rs140660066EnsemblClinVar.1
Natural variantiVAR_00954926P → L in LGMD2A. Corresponds to variant dbSNP:rs762020512EnsemblClinVar.1
Natural variantiVAR_00955077D → N in LGMD2A. 1
Natural variantiVAR_00955186S → F in LGMD2A; severe. Corresponds to variant dbSNP:rs121434546EnsemblClinVar.1
Natural variantiVAR_00955293 – 100Missing in LGMD2A. 8
Natural variantiVAR_009554118R → G in LGMD2A. 1
Natural variantiVAR_009555137C → R in LGMD2A. 1
Natural variantiVAR_009556162I → L in LGMD2A. 1
Natural variantiVAR_001363182L → Q in LGMD2A. 1
Natural variantiVAR_009557183P → L in LGMD2A. 1
Natural variantiVAR_009558184T → M in LGMD2A. Corresponds to variant dbSNP:rs35889956EnsemblClinVar.1
Natural variantiVAR_009559189L → P in LGMD2A. Corresponds to variant dbSNP:rs758795961EnsemblClinVar.1
Natural variantiVAR_001364200 – 204Missing in LGMD2A. 1 Publication5
Natural variantiVAR_009560214G → S in LGMD2A. Corresponds to variant dbSNP:rs369784333EnsemblClinVar.1
Natural variantiVAR_009562215 – 221Missing in LGMD2A. 7
Natural variantiVAR_009561215S → P in LGMD2A. 1
Natural variantiVAR_009563217E → K in LGMD2A. Corresponds to variant dbSNP:rs773001194EnsemblClinVar.1
Natural variantiVAR_009564222G → R in LGMD2A. 1 Publication1
Natural variantiVAR_009565226E → K in LGMD2A. 1
Natural variantiVAR_009566232T → I in LGMD2A. 1
Natural variantiVAR_001365234G → E in LGMD2A. 1
Natural variantiVAR_009568254Missing in LGMD2A. 1
Natural variantiVAR_076561266 – 267Missing in LGMD2A. 2 Publications2
Natural variantiVAR_009569319P → L in LGMD2A. Corresponds to variant dbSNP:rs121434547EnsemblClinVar.1
Natural variantiVAR_009570334H → Q in LGMD2A. 1
Natural variantiVAR_009571336Y → N in LGMD2A. 1 Publication1
Natural variantiVAR_001366354V → G in LGMD2A. 1
Natural variantiVAR_009572360W → C in LGMD2A. 1 PublicationCorresponds to variant dbSNP:rs267606703EnsemblClinVar.1
Natural variantiVAR_009573437R → C in LGMD2A. Corresponds to variant dbSNP:rs777483913EnsemblClinVar.1
Natural variantiVAR_009574440R → W in LGMD2A. Corresponds to variant dbSNP:rs777323132EnsemblClinVar.1
Natural variantiVAR_009575441G → D in LGMD2A. 1
Natural variantiVAR_009576445G → R in LGMD2A. Corresponds to variant dbSNP:rs773827877EnsemblClinVar.1
Natural variantiVAR_009577448R → C in LGMD2A. Corresponds to variant dbSNP:rs776043976EnsemblClinVar.1
Natural variantiVAR_009578448R → G in LGMD2A. Corresponds to variant dbSNP:rs776043976EnsemblClinVar.1
Natural variantiVAR_009579448R → H in LGMD2A. Corresponds to variant dbSNP:rs863224956EnsemblClinVar.1
Natural variantiVAR_009580479S → G in LGMD2A. Corresponds to variant dbSNP:rs201736037EnsemblClinVar.1
Natural variantiVAR_009581486Q → E in LGMD2A. 1 Publication1
Natural variantiVAR_009582489R → Q in LGMD2A. Corresponds to variant dbSNP:rs147764579EnsemblClinVar.1
Natural variantiVAR_009583489R → W in LGMD2A. 1 PublicationCorresponds to variant dbSNP:rs863224957EnsemblClinVar.1
Natural variantiVAR_009584490R → Q in LGMD2A. 1 PublicationCorresponds to variant dbSNP:rs121434548EnsemblClinVar.1
Natural variantiVAR_001367490R → W in LGMD2A. Corresponds to variant dbSNP:rs141656719EnsemblClinVar.1
Natural variantiVAR_009585493R → W in LGMD2A. Corresponds to variant dbSNP:rs557164942EnsemblClinVar.1
Natural variantiVAR_009586496G → R in LGMD2A. Corresponds to variant dbSNP:rs761637940Ensembl.1
Natural variantiVAR_009587502I → T in LGMD2A. Corresponds to variant dbSNP:rs148044781EnsemblClinVar.1
Natural variantiVAR_009588541R → Q in LGMD2A. Corresponds to variant dbSNP:rs398123143EnsemblClinVar.1
Natural variantiVAR_009589567G → W in LGMD2A. Corresponds to variant dbSNP:rs727503839EnsemblClinVar.1
Natural variantiVAR_001368572R → Q in LGMD2A. 1 PublicationCorresponds to variant dbSNP:rs121434544EnsemblClinVar.1
Natural variantiVAR_009590572R → W in LGMD2A. 1 PublicationCorresponds to variant dbSNP:rs863224959EnsemblClinVar.1
Natural variantiVAR_009591606S → L in LGMD2A. Corresponds to variant dbSNP:rs199806879EnsemblClinVar.1
Natural variantiVAR_009592638Q → P in LGMD2A. 1
Natural variantiVAR_009593698R → P in LGMD2A. 1
Natural variantiVAR_009594702A → V in LGMD2A. 2 PublicationsCorresponds to variant dbSNP:rs886042557EnsemblClinVar.1
Natural variantiVAR_009595705D → G in LGMD2A. 1
Natural variantiVAR_009596705D → H in LGMD2A. 1
Natural variantiVAR_009597731F → S in LGMD2A. 1
Natural variantiVAR_001369744S → G in LGMD2A. 2 PublicationsCorresponds to variant dbSNP:rs750083132Ensembl.1
Natural variantiVAR_009598748R → Q in LGMD2A. 4 PublicationsCorresponds to variant dbSNP:rs587780290EnsemblClinVar.1
Natural variantiVAR_001370769R → Q in LGMD2A. Corresponds to variant dbSNP:rs80338802EnsemblClinVar.1
Natural variantiVAR_009599774H → D in LGMD2A; unknown pathological significance. 1
Natural variantiVAR_009600798A → E in LGMD2A; unknown pathological significance. Corresponds to variant dbSNP:rs149095128EnsemblClinVar.1

Mutagenesis

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

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi825
GeneReviewsiCAPN3
MalaCardsiCAPN3
MIMi253600 phenotype
OpenTargetsiENSG00000092529
Orphaneti267 Autosomal recessive limb-girdle muscular dystrophy type 2A
PharmGKBiPA26061

Polymorphism and mutation databases

BioMutaiCAPN3

PTM / Processingi

Molecule processing

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

Proteomic databases

PaxDbiP20807
PeptideAtlasiP20807
PRIDEiP20807
ProteomicsDBi53791
53792 [P20807-2]
53793 [P20807-3]
53794 [P20807-4]

PTM databases

iPTMnetiP20807
PhosphoSitePlusiP20807

Expressioni

Tissue specificityi

Isoform I is skeletal muscle specific.

Gene expression databases

BgeeiENSG00000092529
CleanExiHS_CAPN3
ExpressionAtlasiP20807 baseline and differential
GenevisibleiP20807 HS

Organism-specific databases

HPAiHPA040052

Interactioni

Subunit structurei

Homodimer; via EF-hand domain 4 (PubMed:24846670). Interacts with TTN/titin (PubMed:14583192). Interacts with CMYA5; this interaction, which results in CMYA5 proteolysis, may protect CAPN3 from autolysis (PubMed:20634290).3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein-containing complex scaffold activity Source: UniProtKB
  • titin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi107275, 7 interactors
IntActiP20807, 22 interactors
MINTiP20807
STRINGi9606.ENSP00000380349

Structurei

Secondary structure

1821
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi61 – 70Combined sources10
Beta strandi78 – 80Combined sources3
Helixi84 – 87Combined sources4
Beta strandi89 – 91Combined sources3
Beta strandi98 – 100Combined sources3
Helixi102 – 105Combined sources4
Beta strandi106 – 108Combined sources3
Beta strandi113 – 116Combined sources4
Helixi118 – 120Combined sources3
Helixi129 – 138Combined sources10
Helixi142 – 148Combined sources7
Beta strandi155 – 158Combined sources4
Beta strandi161 – 168Combined sources8
Beta strandi170 – 179Combined sources10
Beta strandi182 – 185Combined sources4
Beta strandi188 – 191Combined sources4
Helixi201 – 212Combined sources12
Helixi217 – 219Combined sources3
Helixi224 – 232Combined sources9
Beta strandi235 – 240Combined sources6
Helixi241 – 243Combined sources3
Helixi248 – 257Combined sources10
Beta strandi261 – 265Combined sources5
Beta strandi336 – 346Combined sources11
Beta strandi349 – 357Combined sources9
Helixi374 – 378Combined sources5
Helixi381 – 386Combined sources6
Beta strandi394 – 400Combined sources7
Helixi401 – 407Combined sources7
Beta strandi410 – 415Combined sources6
Helixi654 – 662Combined sources9
Turni663 – 666Combined sources4
Helixi670 – 680Combined sources11
Helixi694 – 704Combined sources11
Beta strandi708 – 712Combined sources5
Helixi714 – 734Combined sources21
Beta strandi740 – 743Combined sources4
Helixi744 – 753Combined sources10
Helixi760 – 770Combined sources11
Beta strandi775 – 778Combined sources4
Helixi779 – 797Combined sources19
Beta strandi804 – 809Combined sources6
Helixi811 – 821Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y9Vmodel-A/B649-821[»]
4OKHX-ray2.45A/B/C642-821[»]
6BDTX-ray2.30A/B/C/D46-419[»]
6BGPX-ray2.75A/B/C/D46-419[»]
6BJDX-ray2.80A/B/C/D46-419[»]
6BKJX-ray3.20A/B/C/D46-419[»]
ProteinModelPortaliP20807
SMRiP20807
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Region

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

Sequence similaritiesi

Belongs to the peptidase C2 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

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

Family and domain databases

CDDicd00214 Calpain_III, 1 hit
cd00044 CysPc, 1 hit
InterProiView protein in InterPro
IPR033883 C2_III
IPR022684 Calpain_cysteine_protease
IPR022682 Calpain_domain_III
IPR022683 Calpain_III
IPR036213 Calpain_III_sf
IPR029531 CAPN3
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR038765 Papain_like_cys_pep_sf
IPR000169 Pept_cys_AS
IPR001300 Peptidase_C2_calpain_cat
PANTHERiPTHR10183:SF329 PTHR10183:SF329, 1 hit
PfamiView protein in Pfam
PF01067 Calpain_III, 1 hit
PF13202 EF-hand_5, 1 hit
PF13833 EF-hand_8, 1 hit
PF00648 Peptidase_C2, 1 hit
PRINTSiPR00704 CALPAIN
SMARTiView protein in SMART
SM00720 calpain_III, 1 hit
SM00230 CysPc, 1 hit
SM00054 EFh, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
SSF49758 SSF49758, 1 hit
SSF54001 SSF54001, 2 hits
PROSITEiView protein in PROSITE
PS50203 CALPAIN_CAT, 1 hit
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 4 hits
PS00139 THIOL_PROTEASE_CYS, 1 hit

Sequences (5)i

Sequence statusi: Complete.

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

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

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

« Hide

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

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

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

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

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

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

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

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0095484V → I in LGMD2A. Corresponds to variant dbSNP:rs140660066EnsemblClinVar.1
Natural variantiVAR_02227221G → E1 PublicationCorresponds to variant dbSNP:rs28364364EnsemblClinVar.1
Natural variantiVAR_00954926P → L in LGMD2A. Corresponds to variant dbSNP:rs762020512EnsemblClinVar.1
Natural variantiVAR_00955077D → N in LGMD2A. 1
Natural variantiVAR_00955186S → F in LGMD2A; severe. Corresponds to variant dbSNP:rs121434546EnsemblClinVar.1
Natural variantiVAR_00955293 – 100Missing in LGMD2A. 8
Natural variantiVAR_009553107E → K. Corresponds to variant dbSNP:rs1801505EnsemblClinVar.1
Natural variantiVAR_009554118R → G in LGMD2A. 1
Natural variantiVAR_009555137C → R in LGMD2A. 1
Natural variantiVAR_015389160A → G1 PublicationCorresponds to variant dbSNP:rs17592EnsemblClinVar.1
Natural variantiVAR_009556162I → L in LGMD2A. 1
Natural variantiVAR_001363182L → Q in LGMD2A. 1
Natural variantiVAR_009557183P → L in LGMD2A. 1
Natural variantiVAR_009558184T → M in LGMD2A. Corresponds to variant dbSNP:rs35889956EnsemblClinVar.1
Natural variantiVAR_009559189L → P in LGMD2A. Corresponds to variant dbSNP:rs758795961EnsemblClinVar.1
Natural variantiVAR_001364200 – 204Missing in LGMD2A. 1 Publication5
Natural variantiVAR_009560214G → S in LGMD2A. Corresponds to variant dbSNP:rs369784333EnsemblClinVar.1
Natural variantiVAR_009562215 – 221Missing in LGMD2A. 7
Natural variantiVAR_009561215S → P in LGMD2A. 1
Natural variantiVAR_009563217E → K in LGMD2A. Corresponds to variant dbSNP:rs773001194EnsemblClinVar.1
Natural variantiVAR_009564222G → R in LGMD2A. 1 Publication1
Natural variantiVAR_009565226E → K in LGMD2A. 1
Natural variantiVAR_009566232T → I in LGMD2A. 1
Natural variantiVAR_001365234G → E in LGMD2A. 1
Natural variantiVAR_009567236A → T1 PublicationCorresponds to variant dbSNP:rs1801449EnsemblClinVar.1
Natural variantiVAR_009568254Missing in LGMD2A. 1
Natural variantiVAR_076561266 – 267Missing in LGMD2A. 2 Publications2
Natural variantiVAR_009569319P → L in LGMD2A. Corresponds to variant dbSNP:rs121434547EnsemblClinVar.1
Natural variantiVAR_009570334H → Q in LGMD2A. 1
Natural variantiVAR_009571336Y → N in LGMD2A. 1 Publication1
Natural variantiVAR_001366354V → G in LGMD2A. 1
Natural variantiVAR_009572360W → C in LGMD2A. 1 PublicationCorresponds to variant dbSNP:rs267606703EnsemblClinVar.1
Natural variantiVAR_009573437R → C in LGMD2A. Corresponds to variant dbSNP:rs777483913EnsemblClinVar.1
Natural variantiVAR_009574440R → W in LGMD2A. Corresponds to variant dbSNP:rs777323132EnsemblClinVar.1
Natural variantiVAR_009575441G → D in LGMD2A. 1
Natural variantiVAR_009576445G → R in LGMD2A. Corresponds to variant dbSNP:rs773827877EnsemblClinVar.1
Natural variantiVAR_009577448R → C in LGMD2A. Corresponds to variant dbSNP:rs776043976EnsemblClinVar.1
Natural variantiVAR_009578448R → G in LGMD2A. Corresponds to variant dbSNP:rs776043976EnsemblClinVar.1
Natural variantiVAR_009579448R → H in LGMD2A. Corresponds to variant dbSNP:rs863224956EnsemblClinVar.1
Natural variantiVAR_009580479S → G in LGMD2A. Corresponds to variant dbSNP:rs201736037EnsemblClinVar.1
Natural variantiVAR_009581486Q → E in LGMD2A. 1 Publication1
Natural variantiVAR_009582489R → Q in LGMD2A. Corresponds to variant dbSNP:rs147764579EnsemblClinVar.1
Natural variantiVAR_009583489R → W in LGMD2A. 1 PublicationCorresponds to variant dbSNP:rs863224957EnsemblClinVar.1
Natural variantiVAR_009584490R → Q in LGMD2A. 1 PublicationCorresponds to variant dbSNP:rs121434548EnsemblClinVar.1
Natural variantiVAR_001367490R → W in LGMD2A. Corresponds to variant dbSNP:rs141656719EnsemblClinVar.1
Natural variantiVAR_009585493R → W in LGMD2A. Corresponds to variant dbSNP:rs557164942EnsemblClinVar.1
Natural variantiVAR_009586496G → R in LGMD2A. Corresponds to variant dbSNP:rs761637940Ensembl.1
Natural variantiVAR_009587502I → T in LGMD2A. Corresponds to variant dbSNP:rs148044781EnsemblClinVar.1
Natural variantiVAR_009588541R → Q in LGMD2A. Corresponds to variant dbSNP:rs398123143EnsemblClinVar.1
Natural variantiVAR_009589567G → W in LGMD2A. Corresponds to variant dbSNP:rs727503839EnsemblClinVar.1
Natural variantiVAR_001368572R → Q in LGMD2A. 1 PublicationCorresponds to variant dbSNP:rs121434544EnsemblClinVar.1
Natural variantiVAR_009590572R → W in LGMD2A. 1 PublicationCorresponds to variant dbSNP:rs863224959EnsemblClinVar.1
Natural variantiVAR_009591606S → L in LGMD2A. Corresponds to variant dbSNP:rs199806879EnsemblClinVar.1
Natural variantiVAR_047691622E → A. Corresponds to variant dbSNP:rs11557723Ensembl.1
Natural variantiVAR_009592638Q → P in LGMD2A. 1
Natural variantiVAR_009593698R → P in LGMD2A. 1
Natural variantiVAR_009594702A → V in LGMD2A. 2 PublicationsCorresponds to variant dbSNP:rs886042557EnsemblClinVar.1
Natural variantiVAR_009595705D → G in LGMD2A. 1
Natural variantiVAR_009596705D → H in LGMD2A. 1
Natural variantiVAR_009597731F → S in LGMD2A. 1
Natural variantiVAR_001369744S → G in LGMD2A. 2 PublicationsCorresponds to variant dbSNP:rs750083132Ensembl.1
Natural variantiVAR_009598748R → Q in LGMD2A. 4 PublicationsCorresponds to variant dbSNP:rs587780290EnsemblClinVar.1
Natural variantiVAR_001370769R → Q in LGMD2A. Corresponds to variant dbSNP:rs80338802EnsemblClinVar.1
Natural variantiVAR_009599774H → D in LGMD2A; unknown pathological significance. 1
Natural variantiVAR_009600798A → E in LGMD2A; unknown pathological significance. Corresponds to variant dbSNP:rs149095128EnsemblClinVar.1

Alternative sequence

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

Sequence databases

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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCAN3_HUMAN
AccessioniPrimary (citable) accession number: P20807
Secondary accession number(s): A6H8K6
, Q7L4R0, Q9BQC8, Q9BTU4, Q9Y5S6, Q9Y5S7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: February 1, 1996
Last modified: June 20, 2018
This is version 209 of the entry and version 2 of the sequence. See 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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health