Q9HC96 (CAN10_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 116.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Calpain-10 EC=3.4.22.- Alternative name(s): Calcium-activated neutral proteinase 10 Short name=CANP 10 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 672 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. |
| Catalytic activity | Broad endopeptidase specificity. |
| Tissue specificity | Ubiquitous. |
| Involvement in disease | Diabetes mellitus, non-insulin-dependent, 1 (NIDDM1) [MIM:601283]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. |
| Sequence similarities | Belongs to the peptidase C2 family. Contains 1 calpain catalytic domain. |
| Sequence caution | The sequence BAB47474.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Alternative products
| This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform A (identifier: Q9HC96-1) Also known as: CAPN10a; 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 B (identifier: Q9HC96-2) Also known as: CAPN10b; The sequence of this isoform differs from the canonical sequence as follows: 494-544: SAIRAVAKNT...FASYPTNPCF → RALAPAASAS...HPHCCCRSRC 545-672: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform C (identifier: Q9HC96-3) Also known as: CAPN10c; The sequence of this isoform differs from the canonical sequence as follows: 428-582: Missing. | ||||||
| Isoform D (identifier: Q9HC96-4) Also known as: CAPN10d; The sequence of this isoform differs from the canonical sequence as follows: 494-513: SAIRAVAKNTTPGAALPAGE → RSQRVEGARTHPHCCCRSRC 514-672: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform E (identifier: Q9HC96-5) Also known as: CAPN10e; The sequence of this isoform differs from the canonical sequence as follows: 427-444: VEKRRVNLPRVLSMPPVA → GVTLGTTLFPVPSWMWPT 445-672: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform F (identifier: Q9HC96-6) Also known as: CAPN10f; The sequence of this isoform differs from the canonical sequence as follows: 154-274: VYAKVHGSYE...WGRRCWQGLW → GPWVLRAPVG...VLAGALERGG 275-672: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform G (identifier: Q9HC96-7) Also known as: CAPN10g; The sequence of this isoform differs from the canonical sequence as follows: 93-139: IPPGQPSWAD...CLAGRLCFSR → SCPVQLPADW...PDSATWGSWK 140-672: Missing. | ||||||
| Isoform H (identifier: Q9HC96-8) Also known as: CAPN10h; The sequence of this isoform differs from the canonical sequence as follows: 48-581: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 672 | 672 | Calpain-10 | PRO_0000207725 | |||||
Regions | |||||||||
| Domain | 13 – 321 | 309 | Calpain catalytic | ||||||
| Region | 322 – 494 | 173 | Domain III 1 | ||||||
| Region | 513 – 654 | 142 | Domain III 2 | ||||||
Sites | |||||||||
| Active site | 73 | 1 | By similarity | ||||||
| Active site | 238 | 1 | By similarity | ||||||
| Active site | 263 | 1 | By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 48 – 581 | 534 | Missing in isoform H. | VSP_005243 | |||||
| Alternative sequence | 93 – 139 | 47 | IPPGQ…LCFSR → SCPVQLPADWTCKVQPVWLE FPCLPISCRLRVSSDTSPDS ATWGSWK in isoform G. | VSP_005241 | |||||
| Alternative sequence | 140 – 672 | 533 | Missing in isoform G. | VSP_005242 | |||||
| Alternative sequence | 154 – 274 | 121 | VYAKV…WQGLW → GPWVLRAPVGRAGGGCPGGP DRRPGRKMEPEGRSRKRRPA GQARPLGAQDLSAAAPPEGP VSDQLLRAQPQSRCPGAGGV PCLHCLGPAGAPGSGGPVHP AAADPEPLGPAVLAGALERG G in isoform F. | VSP_005239 | |||||
| Alternative sequence | 275 – 672 | 398 | Missing in isoform F. | VSP_005240 | |||||
| Alternative sequence | 427 – 444 | 18 | VEKRR…MPPVA → GVTLGTTLFPVPSWMWPT in isoform E. | VSP_005237 | |||||
| Alternative sequence | 428 – 582 | 155 | Missing in isoform C. | VSP_005234 | |||||
| Alternative sequence | 445 – 672 | 228 | Missing in isoform E. | VSP_005238 | |||||
| Alternative sequence | 494 – 544 | 51 | SAIRA…TNPCF → RALAPAASASLCISTAGPVT PSSTPSASISSRSQRVEGAR THPHCCCRSRC in isoform B. | VSP_005232 | |||||
| Alternative sequence | 494 – 513 | 20 | SAIRA…LPAGE → RSQRVEGARTHPHCCCRSRC in isoform D. | VSP_005235 | |||||
| Alternative sequence | 514 – 672 | 159 | Missing in isoform D. | VSP_005236 | |||||
| Alternative sequence | 545 – 672 | 128 | Missing in isoform B. | VSP_005233 | |||||
| Natural variant | 200 | 1 | P → T. Ref.1 Corresponds to variant rs3792268 [ dbSNP | Ensembl ]. | VAR_014437 | |||||
| Natural variant | 202 | 1 | R → H. Ref.1 | VAR_014438 | |||||
| Natural variant | 276 | 1 | E → G in a colorectal cancer sample; somatic mutation. Ref.9 | VAR_036049 | |||||
| Natural variant | 341 | 1 | A → V. Ref.1 | VAR_014439 | |||||
| Natural variant | 504 | 1 | T → A. Ref.1 Ref.4 Corresponds to variant rs7607759 [ dbSNP | Ensembl ]. | VAR_014440 | |||||
| Natural variant | 529 | 1 | A → S. Ref.1 | VAR_014441 | |||||
| Natural variant | 613 | 1 | S → N. Ref.1 | VAR_014442 | |||||
| Natural variant | 666 | 1 | I → V. Ref.1 Ref.3 Ref.4 Ref.6 Corresponds to variant rs2975766 [ dbSNP | Ensembl ]. | VAR_014443 | |||||
Experimental info | |||||||||
| Sequence conflict | 195 | 1 | G → S in BAC11220. Ref.4 | ||||||
| Sequence conflict | 373 | 1 | E → K in AAG17969. Ref.1 | ||||||
| Sequence conflict | 373 | 1 | E → K in AAG17971. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus." Horikawa Y., Oda N., Cox N.J., Li X., Orho-Melander M., Hara M., Hinokio Y., Lindner T.H., Mashima H., Schwarz P.E.H., del Bosque-Plata L., Horikawa Y., Oda Y., Yoshiuchi I., Colilla S., Polonsky K.S., Wei S., Concannon P. Bell G.I.Nat. Genet. 26:163-175(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, VARIANTS THR-200; HIS-202; VAL-341; ALA-504; SER-529; ASN-613 AND VAL-666, INVOLVEMENT IN SUSCEPTIBILITY TO NIDDM1. |
| [2] | Erratum Horikawa Y., Oda N., Cox N.J., Li X., Orho-Melander M., Hara M., Hinokio Y., Lindner T.H., Mashima H., Schwarz P.E.H., del Bosque-Plata L., Horikawa Y., Oda Y., Yoshiuchi I., Colilla S., Polonsky K.S., Wei S., Concannon P. Bell G.I.Nat. Genet. 26:502-502(2000) |
| [3] | "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A), VARIANT VAL-666. Tissue: Brain. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A), VARIANTS ALA-504 AND VAL-666. |
| [5] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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] (ISOFORM A), VARIANT VAL-666. Tissue: Skin and Uterus. |
| [7] | "An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S). |
| [8] | "A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes." Kang E.S., Kim H.J., Nam M., Nam C.M., Ahn C.W., Cha B.S., Lee H.C. J. Hum. Genet. 51:629-633(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO NIDDM1. |
| [9] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-276. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF089088 mRNA. Translation: AAG17966.1. AF089090 mRNA. Translation: AAG17968.1. AF089091 mRNA. Translation: AAG17969.1. AF089092 mRNA. Translation: AAG17970.1. AF089093 mRNA. Translation: AAG17971.1. AF089094 mRNA. Translation: AAG17972.1. AF089095 mRNA. Translation: AAG17973.1. AF089096 mRNA. Translation: AAG17974.1. AB058748 mRNA. Translation: BAB47474.1. Different initiation. AK074807 mRNA. Translation: BAC11220.1. AC124862 Genomic DNA. Translation: AAX88944.1. BC004260 mRNA. Translation: AAH04260.1. BC007553 mRNA. Translation: AAH07553.2. |
| IPI | IPI00183619. IPI00220233. IPI00220234. IPI00220235. IPI00220236. IPI00220238. IPI00253782. IPI00302479. |
| RefSeq | NP_075571.1. NM_023083.3. NP_075573.2. NM_023085.3. |
| UniGene | Hs.728234. |
3D structure databases | |
| ProteinModelPortal | Q9HC96. |
| SMR | Q9HC96. Positions 10-487, 502-638. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9HC96. 4 interactions. |
Protein family/group databases | |
| MEROPS | C02.018. |
PTM databases | |
| PhosphoSite | Q9HC96. |
Polymorphism databases | |
| DMDM | 21263445. |
Proteomic databases | |
| PaxDb | Q9HC96. |
| PRIDE | Q9HC96. |
Protocols and materials databases | |
| DNASU | 11132. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000270361; ENSP00000270361; ENSG00000142330. ENST00000270364; ENSP00000270364; ENSG00000142330. ENST00000352879; ENSP00000289381; ENSG00000142330. ENST00000354082; ENSP00000270362; ENSG00000142330. ENST00000357048; ENSP00000349556; ENSG00000142330. ENST00000391982; ENSP00000375842; ENSG00000142330. ENST00000391983; ENSP00000375843; ENSG00000142330. ENST00000391984; ENSP00000375844; ENSG00000142330. ENST00000416591; ENSP00000400144; ENSG00000142330. |
| GeneID | 11132. |
| KEGG | hsa:11132. |
| UCSC | uc002vzk.2. human. uc002vzl.2. human. uc002vzm.2. human. uc002vzq.2. human. |
Organism-specific databases | |
| CTD | 11132. |
| GeneCards | GC02P241545. |
| HGNC | HGNC:1477. CAPN10. |
| HPA | HPA004170. |
| MIM | 601283. phenotype. 605286. gene. |
| neXtProt | NX_Q9HC96. |
| PharmGKB | PA26058. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG313372. |
| HOVERGEN | HBG050787. |
| InParanoid | Q9HC96. |
| KO | K08579. |
| OMA | LSPGYYL. |
| OrthoDB | EOG4640BT. |
Gene expression databases | |
| ArrayExpress | Q9HC96. |
| Bgee | Q9HC96. |
| Genevestigator | Q9HC96. |
| GermOnline | ENSG00000142330. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR022684. Calpain_cysteine_protease. IPR022682. Calpain_domain_III. IPR022683. Calpain_III. IPR000169. Pept_cys_AS. IPR001300. Peptidase_C2_calpain_cat. [Graphical view] |
| Pfam | PF01067. Calpain_III. 2 hits. PF00648. Peptidase_C2. 1 hit. [Graphical view] |
| PRINTS | PR00704. CALPAIN. |
| SMART | SM00720. calpain_III. 2 hits. SM00230. CysPc. 1 hit. [Graphical view] |
| SUPFAM | SSF49758. Peptidase_C2. 2 hits. |
| PROSITE | PS50203. CALPAIN_CAT. 1 hit. PS00640. THIOL_PROTEASE_ASN. False negative. PS00139. THIOL_PROTEASE_CYS. 1 hit. PS00639. THIOL_PROTEASE_HIS. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CAPN10. human. |
| GenomeRNAi | 11132. |
| NextBio | 42312. |
| SOURCE | Search... |
Entry information
| Entry name | CAN10_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HC96 Secondary accession number(s): A8MVS7 Q9HC95 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Peptidase families Classification of peptidase families and list of entries |
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
