2024-04-24 06:15:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006615 2362 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. ACCESSION NM_006615 VERSION NM_006615.2 GI:54112395 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2362) AUTHORS Meng,W., Butterworth,J., Bradley,D.T., Hughes,A.E., Soler,V., Calvas,P. and Malecaze,F. TITLE A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population JOURNAL Invest. Ophthalmol. Vis. Sci. 53 (13), 7983-7988 (2012) PUBMED 23049088 REMARK Publication Status: Online-Only REFERENCE 2 (bases 1 to 2362) AUTHORS Liu,C.Y., Wu,M.C., Chen,F., Ter-Minassian,M., Asomaning,K., Zhai,R., Wang,Z., Su,L., Heist,R.S., Kulke,M.H., Lin,X., Liu,G. and Christiani,D.C. TITLE A Large-scale genetic association study of esophageal adenocarcinoma risk JOURNAL Carcinogenesis 31 (7), 1259-1263 (2010) PUBMED 20453000 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (bases 1 to 2362) AUTHORS Enjuanes,A., Benavente,Y., Bosch,F., Martin-Guerrero,I., Colomer,D., Perez-Alvarez,S., Reina,O., Ardanaz,M.T., Jares,P., Garcia-Orad,A., Pujana,M.A., Montserrat,E., de Sanjose,S. and Campo,E. TITLE Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia JOURNAL Cancer Res. 68 (24), 10178-10186 (2008) PUBMED 19074885 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 2362) AUTHORS Davis,T.L., Walker,J.R., Finerty,P.J. Jr., Mackenzie,F., Newman,E.M. and Dhe-Paganon,S. TITLE The crystal structures of human calpains 1 and 9 imply diverse mechanisms of action and auto-inhibition JOURNAL J. Mol. Biol. 366 (1), 216-229 (2007) PUBMED 17157313 REMARK GeneRIF: We have solved the structures of human calpain 1 and calpain 9 protease cores ; both structures have clear implications for the function of non-catalytic domains of full-length calpains in the calcium-mediated activation of the enzyme. REFERENCE 5 (bases 1 to 2362) AUTHORS Huang,Y. and Wang,K.K. TITLE The calpain family and human disease JOURNAL Trends Mol Med 7 (8), 355-362 (2001) PUBMED 11516996 REMARK Review article REFERENCE 6 (bases 1 to 2362) AUTHORS Yoshikawa,Y., Mukai,H., Hino,F., Asada,K. and Kato,I. TITLE Isolation of two novel genes, down-regulated in gastric cancer JOURNAL Jpn. J. Cancer Res. 91 (5), 459-463 (2000) PUBMED 10835488 REFERENCE 7 (bases 1 to 2362) AUTHORS Lee,H.J., Tomioka,S., Kinbara,K., Masumoto,H., Jeong,S.Y., Sorimachi,H., Ishiura,S. and Suzuki,K. TITLE Characterization of a human digestive tract-specific calpain, nCL-4, expressed in the baculovirus system JOURNAL Arch. Biochem. Biophys. 362 (1), 22-31 (1999) PUBMED 9917325 REFERENCE 8 (bases 1 to 2362) AUTHORS Lee,H.J., Sorimachi,H., Jeong,S.Y., Ishiura,S. and Suzuki,K. TITLE Molecular cloning and characterization of a novel tissue-specific calpain predominantly expressed in the digestive tract JOURNAL Biol. Chem. 379 (2), 175-183 (1998) PUBMED 9524069 REFERENCE 9 (bases 1 to 2362) AUTHORS Suzuki,K., Sorimachi,H., Yoshizawa,T., Kinbara,K. and Ishiura,S. TITLE Calpain: novel family members, activation, and physiologic function JOURNAL Biol. Chem. Hoppe-Seyler 376 (9), 523-529 (1995) PUBMED 8561910 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF022799.1 and BC027993.1. On Oct 13, 2004 this sequence version replaced gi:5729757. Summary: Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1) encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: AF022799.1, AK313629.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025082, ERS025084 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-610 AF022799.1 1-610 611-1076 BC027993.1 373-838 1077-2352 AF022799.1 1077-2352 2353-2362 BC027993.1 2115-2124 FEATURES Location/Qualifiers source 1..2362 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q42.11-q42.3" gene 1..2362 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /note="calpain 9" /db_xref="GeneID:10753" /db_xref="HGNC:1486" /db_xref="HPRD:05909" /db_xref="MIM:606401" exon 1..326 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 83 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:200985812" CDS 114..2186 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /EC_number="3.4.22.-" /note="isoform 1 is encoded by transcript variant 1; novel calpain large subunit-4; calpain-9; new calpain 4; digestive tract-specific calpain" /codon_start=1 /product="calpain-9 isoform 1" /protein_id="NP_006606.1" /db_xref="GI:5729758" /db_xref="CCDS:CCDS1586.1" /db_xref="GeneID:10753" /db_xref="HGNC:1486" /db_xref="HPRD:05909" /db_xref="MIM:606401" /translation="
MPYLYRAPGPQAHPVPKDARITHSSGQSFEQMRQECLQRGTLFEDADFPASNSSLFYSERPQIPFVWKRPGEIVKNPEFILGGATRTDICQGELGDCWLLAAIASLTLNQKALARVIPQDQSFGPGYAGIFHFQFWQHSEWLDVVIDDRLPTFRDRLVFLHSADHNEFWSALLEKAYAKLNGSYEALKGGSAIEAMEDFTGGVAETFQTKEAPENFYEILEKALKRGSLLGCFIDTRSAAESEARTPFGLIKGHAYSVTGIDQVSFRGQRIELIRIRNPWGQVEWNGSWSDSSPEWRSVGPAEQKRLCHTALDDGEFWMAFKDFKAHFDKVEICNLTPDALEEDAIHKWEVTVHQGSWVRGSTAGGCRNFLDTFWTNPQIKLSLTEKDEGQEECSFLVALMQKDRRKLKRFGANVLTIGYAIYECPDKDEHLNKDFFRYHASRARSKTFINLREVSDRFKLPPGEYILIPSTFEPHQEADFCLRIFSEKKAITRDMDGNVDIDLPEPPKPTPPDQETEEEQRFRALFEQVAGEDMEVTAEELEYVLNAVLQKKKDIKFKKLSLISCKNIISLMDTSGNGKLEFDEFKVFWDKLKQWINLFLRFDADKSGTMSTYELRTALKAAGFQLSSHLLQLIVLRYADEELQLDFDDFLNCLVRLENASRVFQALSTKNKEFIHLNINEFIHLTMNI
" misc_feature 204..1118 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /note="Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction; Region: CysPc; cd00044" /db_xref="CDD:28925" misc_feature order(402..404,873..875,945..947) /gene="CAPN9" /gene_synonym="GC36; nCL-4" /note="catalytic site [active]" /db_xref="CDD:28925" misc_feature 1125..1676 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O14815.1); Region: Domain III" misc_feature 1152..1601 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /note="Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are...; Region: Calpain_III; cd00214" /db_xref="CDD:29269" misc_feature order(1266..1274,1293..1295) /gene="CAPN9" /gene_synonym="GC36; nCL-4" /note="acidic loop; other site" /db_xref="CDD:29269" misc_feature 1677..2183 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O14815.1); Region: Domain IV" misc_feature 1809..1976 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /note="EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to...; Region: EFh; cd00051" /db_xref="CDD:28933" misc_feature order(1833..1835,1839..1841,1845..1847,1866..1868, 1923..1925,1929..1931,1935..1937,1956..1958) /gene="CAPN9" /gene_synonym="GC36; nCL-4" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:28933" variation 129 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:199941171" variation 154 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:189454297" variation 165 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:182226726" variation 168 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:147360179" variation 256 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:76778781" variation 296 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:368398889" variation 307 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:200153629" variation 309 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:139545116" variation 319 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:202096741" exon 327..396 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 333 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:200358258" variation 339 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /db_xref="dbSNP:372061598" variation 358 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:146884450" variation 373 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:377009492" variation 379 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:199497674" exon 397..515 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 402 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:372966497" variation 407 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:146559174" variation 416 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:150220094" variation 417 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:376185582" variation 418 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:12562749" variation 423 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:142931612" variation 433 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:370370799" variation 434 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:202182793" variation 441 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:189554570" variation 449 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:376072490" variation 479 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /db_xref="dbSNP:28359608" variation 497 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:111958898" variation 503 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="t" /db_xref="dbSNP:150539773" variation 504 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="t" /db_xref="dbSNP:149818978" exon 516..649 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 518 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /db_xref="dbSNP:201142601" variation 543 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:373142698" variation 552 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:146533603" variation 558 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:151280259" variation 559 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:201859022" variation 579 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /db_xref="dbSNP:115689529" variation 582 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:138871271" variation 602 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:117109590" variation 603 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:28359632" variation 611 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:2282319" variation 624 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:141682829" variation 644 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:146363849" variation 645 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:146158165" exon 650..818 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 661 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:199946717" variation 686 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:149766737" variation 692 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:372361365" variation 705 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:148953435" variation 713 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:3828126" variation 753 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:375577407" variation 771 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /db_xref="dbSNP:147002278" variation 776 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:60100843" variation 814 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:28359644" exon 819..902 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 828 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:28359647" variation 829 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:191041783" variation 851 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:369351469" variation 853 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:201934852" variation 854 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:28359648" variation 858 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /db_xref="dbSNP:376744861" variation 865 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:144186744" variation 874 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:144353051" exon 903..988 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 913 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:375897039" variation 926 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:148793642" variation 937 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:370295873" variation 942 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:28359655" variation 943 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:145410369" variation 948 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:375003971" variation 950 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:138901264" variation 963 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:145028426" variation 971 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:200742141" variation 972 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:143186556" variation 977 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:35822261" variation 984 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:200448422" exon 989..1066 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 994 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:371287169" variation 1003 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:200084465" variation 1028 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:7517389" variation 1066 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /db_xref="dbSNP:374762116" exon 1067..1227 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 1077 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /db_xref="dbSNP:1933631" variation 1094 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /db_xref="dbSNP:28359684" variation 1098 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:373024313" variation 1102 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:377433609" variation 1117 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:143810036" variation 1119 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:140805668" variation 1127 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:186852645" variation 1130 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:370629822" variation 1137 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:16852652" variation 1145 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:200401992" variation 1146 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:145648359" variation 1168 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:145226005" variation 1169 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:199593400" variation 1193 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:140902814" variation 1201 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:148341318" variation 1202 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:191588472" variation 1215 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:150463113" variation 1216 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:144137595" exon 1228..1385 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 1231 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /db_xref="dbSNP:201808100" variation 1250 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:140717051" variation 1264 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:182130430" variation 1268 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:368510466" variation 1286 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:372235071" variation 1287 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:144741428" variation 1296 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:142155278" variation 1304 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:200488224" variation 1307 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:28359685" variation 1308 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:374679358" variation 1325 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:112080908" variation 1344 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:367743072" variation 1353 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:201994230" variation 1360 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:79844715" variation 1368 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:377218570" variation 1372 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:371892131" exon 1386..1594 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 1400 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:28359687" variation 1433 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:200514450" variation 1434 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:373035598" variation 1466 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:143757720" variation 1469 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /db_xref="dbSNP:142590080" variation 1485 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:28359688" variation 1486 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:150832269" variation 1495 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:377090700" variation 1513 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:149599568" variation 1516 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:34548204" variation 1549 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:139309696" variation 1584 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:146035889" variation 1593 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:371953997" exon 1595..1631 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 1602 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:142051905" exon 1632..1712 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 1662 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:200997303" variation 1677 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:12731961" variation 1687 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /db_xref="dbSNP:142552467" variation 1689 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:199898968" variation 1704 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:139326872" variation 1710 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:143651583" exon 1713..1770 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 1724 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /db_xref="dbSNP:1133038" variation 1738 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:201069206" variation 1744 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:374496409" exon 1771..1835 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 1771 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="" /replace="a" /db_xref="dbSNP:34868939" variation 1826 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:199519223" variation 1832 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:140529301" exon 1836..1904 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 1857 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:148405103" variation 1880 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:372733697" variation 1891 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:147594451" variation 1903 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:370203510" exon 1905..1983 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 1905 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:369207115" variation 1917 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:140602848" variation 1925 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="t" /db_xref="dbSNP:190359189" variation 1937 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:141236501" variation 1946 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:16852683" variation 1954 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:142078788" variation 1982 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:372881722" exon 1984..2100 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 2019 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:370675670" variation 2042 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="g" /replace="t" /db_xref="dbSNP:145939347" variation 2069 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:374413432" variation 2079 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:150802007" variation 2083 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:376872376" variation 2095 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /db_xref="dbSNP:199590749" variation 2096 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:143396487" variation 2100 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:140393588" exon 2101..2159 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 2115 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /db_xref="dbSNP:142958578" variation 2131..2132 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="" /replace="g" /db_xref="dbSNP:35676971" variation 2142 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /db_xref="dbSNP:144975337" variation 2143 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:375166270" exon 2160..2362 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /inference="alignment:Splign:1.39.8" variation 2174 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="c" /db_xref="dbSNP:369755787" variation 2196 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:372861095" variation 2209 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /db_xref="dbSNP:374819587" variation 2214 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:113816119" variation 2226 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:369096755" variation 2254 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="g" /db_xref="dbSNP:368405575" variation 2275 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:115590205" variation 2277 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:111448249" variation 2300 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="a" /replace="g" /db_xref="dbSNP:147717941" variation 2303 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /replace="c" /replace="t" /db_xref="dbSNP:183264986" polyA_site 2359 /gene="CAPN9" /gene_synonym="GC36; nCL-4" polyA_site 2362 /gene="CAPN9" /gene_synonym="GC36; nCL-4" /experiment="experimental evidence, no additional details recorded" ORIGIN
actcagcccagtggccctctgagctgttccttcttgaccggcacacacagctcgcttcttcactttcttttccatccactgccggacccaagccagccttccagggagcagccatgccttacctctaccgggccccagggcctcaggcacacccggttcccaaggacgcccggatcacccactcctcaggccagagctttgagcaaatgaggcaggagtgcctgcagagaggcaccctgtttgaggatgcagacttcccagccagcaattcctccctgttctacagtgagaggccgcagatcccctttgtgtggaaacgaccaggggaaatcgtgaaaaacccagaattcattcttggaggggccaccaggactgatatctgccagggagagctgggagactgctggctattagccgccatcgcctcccttacgcttaatcaaaaagcactggccagagtcatcccccaggaccaaagctttggccctggttatgccgggatattccatttccagttctggcagcacagtgagtggctggacgtggtgatcgatgaccgcctgcccaccttcagggaccgcttggttttcctccactctgccgaccacaacgagttctggagcgccttgctggaaaaagcctacgccaagctaaatgggagctatgaagctctgaagggaggcagcgccatcgaggccatggaagacttcactgggggtgtggcagagaccttccaaactaaagaggcccccgagaacttctatgagattctagagaaggctttgaagagaggctccctgctgggctgcttcattgataccagaagtgctgcagaatctgaggcccggacgccgtttggtcttattaagggtcatgcctacagtgtaacgggaattgaccaggtaagcttccgaggccagagaatcgagctcatccgaatccggaacccttggggccaggttgagtggaacgggtcgtggagcgacagttctccggagtggcgttctgttggtccagctgagcagaagcgtctgtgtcacactgctctggatgatggggaattctggatggcatttaaggacttcaaggcccactttgataaagtggagatctgcaacctcactcccgatgccctggaggaagacgcgatccacaaatgggaggtgacggtccatcagggaagctgggttcgcggctccacggctgggggctgccgcaatttcctggataccttttggaccaatccacaaataaaattgtctctgactgagaaagatgaggggcaggaggagtgtagtttccttgtagccctgatgcagaaagatagaaggaaactcaagagatttggtgccaatgtgctgacaatcggctatgccatttatgagtgccctgacaaagacgaacacctgaacaaagacttcttcagataccacgcttctcgggccagaagcaagacgttcatcaacctgagagaagtctccgaccggttcaagctgccccctggggagtacatcctgattcccagcacttttgagccccaccaggaagctgatttctgtctgagaatcttttcagagaaaaaagccattacccgggatatggatggaaatgtagacattgaccttcctgagcctccaaagccaactccacctgaccaggagacagaggaggagcagcggtttcgggctctgtttgaacaagtcgctggtgaggacatggaggtgacagcagaggaacttgagtatgttttaaatgctgtgctgcaaaagaaaaaggacatcaaattcaagaagctaagcctgatctcctgtaaaaacatcatttccctgatggacaccagcggcaatgggaagctggagtttgatgaattcaaagtgttctgggacaagctgaagcagtggattaaccttttccttcggtttgatgctgacaagtccggcaccatgtctacctatgaactacggactgcactgaaagctgcaggctttcagctgagcagccacctcctgcagctgattgtgctcaggtatgcggatgaggagctccagctggacttcgatgacttcctcaactgcctggtccggctggagaatgcgagccgggtgttccaggctctcagtacaaagaacaaggagttcattcatctcaatataaatgagttcatccatttgacaatgaacatctgaggctgccttgtagagatgcagcctgcccagctgaatcttggcttctggaccttgaccttcagaacttctcttggtgtggaaccattacgcccagggttcactcccctctcatcgtccggccttctcccttcatcttgatctgggaagaatgaaatgaactcagctacactctctga
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10753 -> Molecular function: GO:0004198 [calcium-dependent cysteine-type endopeptidase activity] evidence: IEA GeneID:10753 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA GeneID:10753 -> Biological process: GO:0006508 [proteolysis] evidence: IEA GeneID:10753 -> Biological process: GO:0007586 [digestion] evidence: TAS GeneID:10753 -> Cellular component: GO:0005575 [cellular_component] evidence: ND GeneID:10753 -> Cellular component: GO:0005622 [intracellular] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_006606 -> EC 3.4.22.-
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@meso_cacase at
DBCLS
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