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2024-04-24 15:50:38, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_016452 2484 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens calpain 9 (CAPN9), transcript variant 2, mRNA.
ACCESSION NM_016452
VERSION NM_016452.1 GI:7705382
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 2484)
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 2484)
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 2484)
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 2484)
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 2484)
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 2484)
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 2484)
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 2484)
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 2484)
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 AB038463.1.
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 (2) lacks an in-frame exon in the
coding region, as compared to variant 1. The encoded isoform 2 thus
lacks an internal segment, as compared to isoform 1.
##Evidence-Data-START##
Transcript exon combination :: AB038463.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025082, ERS025084 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
FEATURES Location/Qualifiers
source 1..2484
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q42.11-q42.3"
gene 1..2484
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/note="calpain 9"
/db_xref="GeneID:10753"
/db_xref="HGNC:1486"
/db_xref="MIM:606401"
exon 1..295
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 52
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:200985812"
CDS 83..2077
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/EC_number="3.4.22.-"
/note="isoform 2 is encoded by transcript variant 2; novel
calpain large subunit-4; calpain-9; new calpain 4;
digestive tract-specific calpain"
/codon_start=1
/product="calpain-9 isoform 2"
/protein_id="NP_057536.1"
/db_xref="GI:7705383"
/db_xref="CCDS:CCDS31053.1"
/db_xref="GeneID:10753"
/db_xref="HGNC:1486"
/db_xref="MIM:606401"
/translation="
MPYLYRAPGPQAHPVPKDARITHSSGQSFEQMRQECLQRGTLFEDADFPASNSSLFYSERPQIPFVWKRPGEIVKNPEFILGGATRTDICQGELGDCWLLAAIASLTLNQKALARVIPQDQSFGPGYAGIFHFQFWQHSEWLDVVIDDRLPTFRDRLVFLHSADHNEFWSALLEKAYAKLNGSYEALKGGSAIEAMEDFTGGVAETFQTKEAPENFYEILEKALKRGSLLGCFIDTRSAAESEARTPFGLIKGHAYSVTGIDQVSFRGQRIELIRIRNPWGQVEWNGSWSDRMAFKDFKAHFDKVEICNLTPDALEEDAIHKWEVTVHQGSWVRGSTAGGCRNFLDTFWTNPQIKLSLTEKDEGQEECSFLVALMQKDRRKLKRFGANVLTIGYAIYECPDKDEHLNKDFFRYHASRARSKTFINLREVSDRFKLPPGEYILIPSTFEPHQEADFCLRIFSEKKAITRDMDGNVDIDLPEPPKPTPPDQETEEEQRFRALFEQVAGEDMEVTAEELEYVLNAVLQKKKDIKFKKLSLISCKNIISLMDTSGNGKLEFDEFKVFWDKLKQWINLFLRFDADKSGTMSTYELRTALKAAGFQLSSHLLQLIVLRYADEELQLDFDDFLNCLVRLENASRVFQALSTKNKEFIHLNINEFIHLTMNI
"
misc_feature 173..1009
/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(371..373,842..844,914..916)
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/note="catalytic site [active]"
/db_xref="CDD:28925"
misc_feature 1043..1492
/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(1157..1165,1184..1186)
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/note="acidic loop; other site"
/db_xref="CDD:29269"
misc_feature 1700..1867
/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(1724..1726,1730..1732,1736..1738,1757..1759,
1814..1816,1820..1822,1826..1828,1847..1849)
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28933"
variation 98
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:199941171"
variation 123
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:189454297"
variation 134
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:182226726"
variation 137
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:147360179"
variation 225
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:76778781"
variation 265
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:368398889"
variation 276
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200153629"
variation 278
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:139545116"
variation 288
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:202096741"
exon 296..365
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 302
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200358258"
variation 308
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/db_xref="dbSNP:372061598"
variation 327
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:146884450"
variation 342
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:377009492"
variation 348
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:199497674"
exon 366..484
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 371
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:372966497"
variation 376
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:146559174"
variation 385
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:150220094"
variation 386
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376185582"
variation 387
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:12562749"
variation 392
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:142931612"
variation 402
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370370799"
variation 403
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:202182793"
variation 410
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:189554570"
variation 418
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376072490"
variation 448
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/db_xref="dbSNP:28359608"
variation 466
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:111958898"
variation 472
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="t"
/db_xref="dbSNP:150539773"
variation 473
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="t"
/db_xref="dbSNP:149818978"
exon 485..618
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 487
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="g"
/db_xref="dbSNP:201142601"
variation 512
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:373142698"
variation 521
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:146533603"
variation 527
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:151280259"
variation 528
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:201859022"
variation 548
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/db_xref="dbSNP:115689529"
variation 551
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:138871271"
variation 571
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:117109590"
variation 572
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:28359632"
variation 580
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:2282319"
variation 593
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:141682829"
variation 613
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:146363849"
variation 614
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:146158165"
exon 619..787
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 630
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:199946717"
variation 655
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:149766737"
variation 661
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:372361365"
variation 674
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:148953435"
variation 682
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:3828126"
variation 722
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:375577407"
variation 740
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="g"
/db_xref="dbSNP:147002278"
variation 745
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:60100843"
variation 783
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:28359644"
exon 788..871
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 797
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:28359647"
variation 798
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:191041783"
variation 820
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:369351469"
variation 822
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:201934852"
variation 823
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:28359648"
variation 827
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="g"
/db_xref="dbSNP:376744861"
variation 834
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:144186744"
variation 843
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:144353051"
exon 872..957
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 882
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:375897039"
variation 895
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:148793642"
variation 906
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:370295873"
variation 911
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:28359655"
variation 912
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:145410369"
variation 917
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:375003971"
variation 919
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:138901264"
variation 932
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:145028426"
variation 940
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200742141"
variation 941
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:143186556"
variation 946
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:35822261"
variation 953
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200448422"
exon 958..1118
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 968
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/db_xref="dbSNP:1933631"
variation 985
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/db_xref="dbSNP:28359684"
variation 989
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:373024313"
variation 993
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:377433609"
variation 1008
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:143810036"
variation 1010
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140805668"
variation 1018
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:186852645"
variation 1021
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370629822"
variation 1028
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:16852652"
variation 1036
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200401992"
variation 1037
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:145648359"
variation 1059
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:145226005"
variation 1060
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:199593400"
variation 1084
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140902814"
variation 1092
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:148341318"
variation 1093
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:191588472"
variation 1106
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:150463113"
variation 1107
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:144137595"
exon 1119..1276
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 1122
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/db_xref="dbSNP:201808100"
variation 1141
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:140717051"
variation 1155
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:182130430"
variation 1159
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:368510466"
variation 1177
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:372235071"
variation 1178
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:144741428"
variation 1187
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:142155278"
variation 1195
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:200488224"
variation 1198
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:28359685"
variation 1199
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:374679358"
variation 1216
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:112080908"
variation 1235
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:367743072"
variation 1244
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:201994230"
variation 1251
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:79844715"
variation 1259
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:377218570"
variation 1263
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:371892131"
exon 1277..1485
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 1291
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:28359687"
variation 1324
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200514450"
variation 1325
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:373035598"
variation 1357
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:143757720"
variation 1360
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="g"
/db_xref="dbSNP:142590080"
variation 1376
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:28359688"
variation 1377
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:150832269"
variation 1386
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:377090700"
variation 1404
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:149599568"
variation 1407
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:34548204"
variation 1440
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:139309696"
variation 1475
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:146035889"
variation 1484
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:371953997"
exon 1486..1522
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 1493
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:142051905"
exon 1523..1603
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 1553
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200997303"
variation 1568
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:12731961"
variation 1578
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/db_xref="dbSNP:142552467"
variation 1580
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:199898968"
variation 1595
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:139326872"
variation 1601
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:143651583"
exon 1604..1661
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 1615
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="g"
/db_xref="dbSNP:1133038"
variation 1629
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:201069206"
variation 1635
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374496409"
exon 1662..1726
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 1662
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace=""
/replace="a"
/db_xref="dbSNP:34868939"
variation 1717
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:199519223"
variation 1723
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:140529301"
exon 1727..1795
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 1748
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:148405103"
variation 1771
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:372733697"
variation 1782
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:147594451"
variation 1794
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370203510"
exon 1796..1874
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 1796
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:369207115"
variation 1808
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140602848"
variation 1816
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="t"
/db_xref="dbSNP:190359189"
variation 1828
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:141236501"
variation 1837
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:16852683"
variation 1845
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:142078788"
variation 1873
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:372881722"
exon 1875..1991
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 1910
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:370675670"
variation 1933
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:145939347"
variation 1960
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:374413432"
variation 1970
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:150802007"
variation 1974
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376872376"
variation 1986
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="g"
/db_xref="dbSNP:199590749"
variation 1987
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:143396487"
variation 1991
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140393588"
exon 1992..2050
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 2006
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="g"
/db_xref="dbSNP:142958578"
variation 2022..2023
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace=""
/replace="g"
/db_xref="dbSNP:35676971"
variation 2033
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/db_xref="dbSNP:144975337"
variation 2034
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:375166270"
exon 2051..2484
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/inference="alignment:Splign:1.39.8"
variation 2065
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/db_xref="dbSNP:369755787"
variation 2087
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:372861095"
variation 2100
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="g"
/db_xref="dbSNP:374819587"
variation 2105
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:113816119"
variation 2117
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:369096755"
variation 2145
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="g"
/db_xref="dbSNP:368405575"
variation 2166
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:115590205"
variation 2168
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:111448249"
variation 2191
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:147717941"
variation 2194
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="c"
/replace="t"
/db_xref="dbSNP:183264986"
polyA_site 2250
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
polyA_site 2253
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
variation 2302
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:74413217"
variation 2354
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:187515812"
variation 2383
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:191099263"
variation 2390
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:182714465"
variation 2411
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="a"
/replace="g"
/db_xref="dbSNP:370436609"
variation 2418
/gene="CAPN9"
/gene_synonym="GC36; nCL-4"
/replace="g"
/replace="t"
/db_xref="dbSNP:28359750"
ORIGIN
tcttgaccggcacacacagctcgcttcttcactttcttttccatccactgccggacccaagccagccttccagggagcagccatgccttacctctaccgggccccagggcctcaggcacacccggttcccaaggacgcccggatcacccactcctcaggccagagctttgagcaaatgaggcaggagtgcctgcagagaggcaccctgtttgaggatgcagacttcccagccagcaattcctccctgttctacagtgagaggccgcagatcccctttgtgtggaaacgaccaggggaaatcgtgaaaaacccagaattcattcttggaggggccaccaggactgatatctgccagggagagctgggagactgctggctattagccgccatcgcctcccttacgcttaatcaaaaagcactggccagagtcatcccccaggaccaaagctttggccctggttatgccgggatattccatttccagttctggcagcacagtgagtggctggacgtggtgatcgatgaccgcctgcccaccttcagggaccgcttggttttcctccactctgccgaccacaacgagttctggagcgccttgctggaaaaagcctacgccaagctaaatgggagctatgaagctctgaagggaggcagcgccatcgaggccatggaagacttcactgggggtgtggcagagaccttccaaactaaagaggcccccgagaacttctatgagattctagagaaggctttgaagagaggctccctgctgggctgcttcattgataccagaagtgctgcagaatctgaggcccggacgccgtttggtcttattaagggtcatgcctacagtgtaacgggaattgaccaggtaagcttccgaggccagagaatcgagctcatccgaatccggaacccttggggccaggttgagtggaacgggtcgtggagcgacaggatggcatttaaggacttcaaggcccactttgataaagtggagatctgcaacctcactcccgatgccctggaggaagacgcgatccacaaatgggaggtgacggtccatcagggaagctgggttcgcggctccacggctgggggctgccgcaatttcctggataccttttggaccaatccacaaataaaattgtctctgactgagaaagatgaggggcaggaggagtgtagtttccttgtagccctgatgcagaaagatagaaggaaactcaagagatttggtgccaatgtgctgacaatcggctatgccatttatgagtgccctgacaaagacgaacacctgaacaaagacttcttcagataccacgcttctcgggccagaagcaagacgttcatcaacctgagagaagtctccgaccggttcaagctgccccctggggagtacatcctgattcccagcacttttgagccccaccaggaagctgatttctgtctgagaatcttttcagagaaaaaagccattacccgggatatggatggaaatgtagacattgaccttcctgagcctccaaagccaactccacctgaccaggagacagaggaggagcagcggtttcgggctctgtttgaacaagtcgctggtgaggacatggaggtgacagcagaggaacttgagtatgttttaaatgctgtgctgcaaaagaaaaaggacatcaaattcaagaagctaagcctgatctcctgtaaaaacatcatttccctgatggacaccagcggcaatgggaagctggagtttgatgaattcaaagtgttctgggacaagctgaagcagtggattaaccttttccttcggtttgatgctgacaagtccggcaccatgtctacctatgaactacggactgcactgaaagctgcaggctttcagctgagcagccacctcctgcagctgattgtgctcaggtatgcggatgaggagctccagctggacttcgatgacttcctcaactgcctggtccggctggagaatgcgagccgggtgttccaggctctcagtacaaagaacaaggagttcattcatctcaatataaatgagttcatccatttgacaatgaacatctgaggctgccttgtagagatgcagcctgcccagctgaatcttggcttctggaccttgaccttcagaacttctcttggtgtggaaccattacgcccagggttcactcccctctcatcgtccggccttctcccttcatcttgatctgggaagaatgaaatgaactcagctacactctctgattttgtgctactcctttgtaaagtcactgccttaagggggctgatggcgccacctgtgccttacatccaggttcaggcatcactagctttcccacactctactttccttatttccttccattaagaattactcagagttctaacgcacagaatcctgacttccatgtagctccagtcattgtgatcagacatcctttataaaacatgtttttataaatgtgtatgtggaat
//
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_057536 -> EC 3.4.22.-
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.