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2024-04-25 07:01:34, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001227 2607 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens caspase 7, apoptosis-related cysteine peptidase
(CASP7), transcript variant a, mRNA.
ACCESSION NM_001227
VERSION NM_001227.4 GI:388596695
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 2607)
AUTHORS Park,C., Han,S., Lee,K.M., Choi,J.Y., Song,N., Jeon,S., Park,S.K.,
Ahn,H.S., Shin,H.Y., Kang,H.J., Koo,H.H., Seo,J.J., Choi,J.E. and
Kang,D.
TITLE Association between CASP7 and CASP14 genetic polymorphisms and the
risk of childhood leukemia
JOURNAL Hum. Immunol. 73 (7), 736-739 (2012)
PUBMED 22548721
REMARK GeneRIF: genetic polynorphism is associated with the risk of
childhood leukemia
REFERENCE 2 (bases 1 to 2607)
AUTHORS Nagano,T., Hashimoto,T., Nakashima,A., Kikkawa,U. and Kamada,S.
TITLE X-linked inhibitor of apoptosis protein mediates neddylation by
itself but does not function as a NEDD8-E3 ligase for caspase-7
JOURNAL FEBS Lett. 586 (11), 1612-1616 (2012)
PUBMED 22584050
REMARK GeneRIF: XIAP does not function as a NEDD8-E3 ligase for caspase-7
in vivo
REFERENCE 3 (bases 1 to 2607)
AUTHORS Jin,Y., Birlea,S.A., Fain,P.R., Ferrara,T.M., Ben,S.,
Riccardi,S.L., Cole,J.B., Gowan,K., Holland,P.J., Bennett,D.C.,
Luiten,R.M., Wolkerstorfer,A., van der Veen,J.P., Hartmann,A.,
Eichner,S., Schuler,G., van Geel,N., Lambert,J., Kemp,E.H.,
Gawkrodger,D.J., Weetman,A.P., Taieb,A., Jouary,T., Ezzedine,K.,
Wallace,M.R., McCormack,W.T., Picardo,M., Leone,G., Overbeck,A.,
Silverberg,N.B. and Spritz,R.A.
TITLE Genome-wide association analyses identify 13 new susceptibility
loci for generalized vitiligo
JOURNAL Nat. Genet. 44 (6), 676-680 (2012)
PUBMED 22561518
REMARK Publication Status: Online-Only
REFERENCE 4 (bases 1 to 2607)
AUTHORS Boucher,D., Blais,V. and Denault,J.B.
TITLE Caspase-7 uses an exosite to promote poly(ADP ribose) polymerase 1
proteolysis
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 109 (15), 5669-5674 (2012)
PUBMED 22451931
REMARK GeneRIF: Cellular expression of caspase-7 lacking the critical
lysine residues resulted in less-efficient PARP and p23 cleavage
compared with cells expressing the wild-type peptidase.
REFERENCE 5 (bases 1 to 2607)
AUTHORS Riedl,S.J., Fuentes-Prior,P., Renatus,M., Kairies,N., Krapp,S.,
Huber,R., Salvesen,G.S. and Bode,W.
TITLE Structural basis for the activation of human procaspase-7
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (26), 14790-14795 (2001)
PUBMED 11752425
REFERENCE 6 (bases 1 to 2607)
AUTHORS Tiso,N., Pallavicini,A., Muraro,T., Zimbello,R., Apolloni,E.,
Valle,G., Lanfranchi,G. and Danieli,G.A.
TITLE Chromosomal localization of the human genes, CPP32, Mch2, Mch3, and
Ich-1, involved in cellular apoptosis
JOURNAL Biochem. Biophys. Res. Commun. 225 (3), 983-989 (1996)
PUBMED 8780721
REFERENCE 7 (bases 1 to 2607)
AUTHORS Lippke,J.A., Gu,Y., Sarnecki,C., Caron,P.R. and Su,M.S.
TITLE Identification and characterization of CPP32/Mch2 homolog 1, a
novel cysteine protease similar to CPP32
JOURNAL J. Biol. Chem. 271 (4), 1825-1828 (1996)
PUBMED 8567622
REFERENCE 8 (bases 1 to 2607)
AUTHORS Fernandes-Alnemri,T., Takahashi,A., Armstrong,R., Krebs,J.,
Fritz,L., Tomaselli,K.J., Wang,L., Yu,Z., Croce,C.M., Salveson,G.
et al.
TITLE Mch3, a novel human apoptotic cysteine protease highly related to
CPP32
JOURNAL Cancer Res. 55 (24), 6045-6052 (1995)
PUBMED 8521391
REFERENCE 9 (bases 1 to 2607)
AUTHORS Fernandes-Alnemri,T., Litwack,G. and Alnemri,E.S.
TITLE CPP32, a novel human apoptotic protein with homology to
Caenorhabditis elegans cell death protein Ced-3 and mammalian
interleukin-1 beta-converting enzyme
JOURNAL J. Biol. Chem. 269 (49), 30761-30764 (1994)
PUBMED 7983002
REFERENCE 10 (bases 1 to 2607)
AUTHORS Olson,R.E., Morello,J.A. and Kieff,E.D.
TITLE Antibiotic treatment of oral anaerobic infections
JOURNAL J Oral Surg 33 (8), 619-621 (1975)
PUBMED 1056466
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from U67206.1, AL627395.14,
U37448.1, BC015799.1, BM976488.1 and BQ006259.1.
On May 30, 2012 this sequence version replaced gi:73623015.
Summary: This gene encodes a member of the cysteine-aspartic acid
protease (caspase) family. Sequential activation of caspases plays
a central role in the execution-phase of cell apoptosis. Caspases
exist as inactive proenzymes which undergo proteolytic processing
at conserved aspartic residues to produce two subunits, large and
small, that dimerize to form the active enzyme. The precursor of
the encoded protein is cleaved by caspase 3 and 10, is activated
upon cell death stimuli and induces apoptosis. Alternatively
spliced transcript variants encoding multiple isoforms have been
observed for this gene. [provided by RefSeq, May 2012].
Transcript Variant: This variant (a, also known as alpha) differs
in the 5' UTR, lacks a portion of the 5' coding region and
initiates translation at a downstream, in-frame start codon,
compared to variant d. Variants a, c and e encode the same isoform
(alpha), which has a shorter N-terminus compared to isoform delta.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC015799.1, U40281.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025083 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-141 U67206.1 3-143
142-267 AL627395.14 7738-7863
268-1405 U37448.1 1-1138
1406-2031 BC015799.1 1174-1799
2032-2587 BM976488.1 17-572 c
2588-2607 BQ006259.1 1-20 c
FEATURES Location/Qualifiers
source 1..2607
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q25"
gene 1..2607
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="caspase 7, apoptosis-related cysteine peptidase"
/db_xref="GeneID:840"
/db_xref="HGNC:1508"
/db_xref="HPRD:03457"
/db_xref="MIM:601761"
exon 1..310
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 17
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="a"
/db_xref="dbSNP:56204896"
misc_feature 23..25
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="upstream in-frame stop codon"
variation 103
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:28411397"
variation 142
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:7921977"
variation 214..215
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="tt"
/db_xref="dbSNP:10553596"
variation 262
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:140427264"
CDS 311..1222
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/EC_number="3.4.22.60"
/note="isoform alpha precursor is encoded by transcript
variant a; caspase 7, apoptosis-related cysteine protease;
ICE-like apoptotic protease 3; apoptotic protease MCH-3"
/codon_start=1
/product="caspase-7 isoform alpha precursor"
/protein_id="NP_001218.1"
/db_xref="GI:4502581"
/db_xref="CCDS:CCDS7581.1"
/db_xref="GeneID:840"
/db_xref="HGNC:1508"
/db_xref="HPRD:03457"
/db_xref="MIM:601761"
/translation="
MADDQGCIEEQGVEDSANEDSVDAKPDRSSFVPSLFSKKKKNVTMRSIKTTRDRVPTYQYNMNFEKLGKCIIINNKNFDKVTGMGVRNGTDKDAEALFKCFRSLGFDVIVYNDCSCAKMQDLLKKASEEDHTNAACFACILLSHGEENVIYGKDGVTPIKDLTAHFRGDRCKTLLEKPKLFFIQACRGTELDDGIQADSGPINDTDANPRYKIPVEADFLFAYSTVPGYYSWRSPGRGSWFVQALCSILEEHGKDLEIMQILTRVNDRVARHFESQSDDPHFHEKKQIPCVVSMLTKELYFSQ
"
misc_feature 377..379
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:00476"
mat_peptide 380..904
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/product="Caspase-7 subunit p20"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P55210.1)"
misc_feature 488..1213
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="Caspase, interleukin-1 beta converting enzyme (ICE)
homologues; Cysteine-dependent aspartate-directed
proteases that mediate programmed cell death (apoptosis).
Caspases are synthesized as inactive zymogens and
activated by proteolysis of the peptide...; Region: CASc;
cd00032"
/db_xref="CDD:28914"
misc_feature order(569..571,743..745,860..862,881..883,998..1015,
1025..1030)
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="substrate pocket [chemical binding]; other site"
/db_xref="CDD:28914"
misc_feature order(740..742,866..868)
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="active site"
/db_xref="CDD:28914"
misc_feature order(884..886,953..958,977..979,986..988,995..997,
1064..1066,1088..1090,1106..1108,1166..1168,1181..1186,
1190..1192,1199..1204)
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="dimer interface [polypeptide binding]; other site"
/db_xref="CDD:28914"
misc_feature order(887..889,950..952)
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="proteolytic cleavage site; other site"
/db_xref="CDD:28914"
misc_feature 902..904
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:00476"
mat_peptide 929..1219
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/product="Caspase-7 subunit p11"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P55210.1)"
exon 311..420
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 322
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:11555408"
variation 345
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147218371"
variation 354
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="t"
/db_xref="dbSNP:367975864"
variation 392
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372133111"
variation 393
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:115389257"
variation 411
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:372587822"
exon 421..557
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 447
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:148675407"
variation 470
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:112348087"
variation 478
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141263741"
variation 511
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150759529"
exon 558..686
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 566
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:115183028"
variation 574
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:181777209"
variation 592
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:199874997"
variation 598
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:114786731"
variation 604
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:143659216"
variation 614
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:202060178"
variation 615
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146796754"
variation 619
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:2229998"
variation 646
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:144555540"
variation 673
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:368309877"
variation 676
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:115421189"
variation 680
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="a"
/db_xref="dbSNP:72431166"
exon 687..862
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 711
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:372396520"
variation 733
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:374718188"
variation 796
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:193124738"
variation 801
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:369067741"
variation 805
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:116709623"
variation 811
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:143354631"
variation 822
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:201040237"
variation 844
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:75516871"
variation 851
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141266925"
exon 863..992
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 869
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:373690332"
variation 870
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376348175"
variation 878
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:187106799"
variation 898
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370774542"
variation 906
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375409071"
variation 907
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146952079"
variation 914
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:367682197"
variation 939
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370400085"
variation 978
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116560793"
variation 984
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200665202"
variation 990
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:137956734"
exon 993..2591
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 1003
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1127684"
variation 1010
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:200326742"
variation 1021
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:112264603"
variation 1051
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:191429899"
variation 1075
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:2227310"
variation 1090
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:2227309"
variation 1100
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116437863"
variation 1110
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:61755278"
variation 1138
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373028643"
variation 1150
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377322540"
variation 1158
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373624501"
variation 1177..1178
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="c"
/db_xref="dbSNP:35322299"
variation 1177
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:61755279"
variation 1217
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:78202169"
variation 1219
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:61757658"
variation 1256
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:143800552"
variation 1280
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="t"
/db_xref="dbSNP:372361034"
variation 1293
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:76579192"
variation 1337
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:112631326"
variation 1407
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:148146424"
variation 1512
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:4353229"
variation 1553
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1127685"
variation 1562
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1127686"
variation 1573
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:10787498"
variation 1578
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:183912507"
variation 1595
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:77191867"
variation 1690
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:188652831"
variation 1784
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:141018894"
variation 1910
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:79838074"
variation 1983
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:12247479"
variation 1988
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:181350515"
variation 1996
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116185385"
variation 2032
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1127687"
STS 2082..2179
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="D10S1306E"
/db_xref="UniSTS:151338"
STS 2109..2344
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="RH18047"
/db_xref="UniSTS:8837"
variation 2113
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:12247588"
variation 2222
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150326299"
variation 2346
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:186832916"
variation 2388
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:137932518"
STS 2430..2579
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="SHGC-33054"
/db_xref="UniSTS:60686"
variation 2532
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:190021522"
polyA_signal 2560..2565
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
polyA_site 2587
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
ORIGIN
cccgcgcgcgggctcaactttgtagagcgaggggccaacttggcagagcgcgcggccagctttgcagagagcgccctccagggactatgcgtgcggggacacgggtcgctttgggctcttccacccctgcggagcgcactaccccgagccaggggcggtgcaagccccgcccggccctacccagggcggctcctccctccgcagcgccgagacttttagtttcgctttcgctaaaggggccccagacccttgctgcggagcgacggagagagactgtgccagtcccagccgccctaccgccgtgggaacgatggcagatgatcagggctgtattgaagagcagggggttgaggattcagcaaatgaagattcagtggatgctaagccagaccggtcctcgtttgtaccgtccctcttcagtaagaagaagaaaaatgtcaccatgcgatccatcaagaccacccgggaccgagtgcctacatatcagtacaacatgaattttgaaaagctgggcaaatgcatcataataaacaacaagaactttgataaagtgacaggtatgggcgttcgaaacggaacagacaaagatgccgaggcgctcttcaagtgcttccgaagcctgggttttgacgtgattgtctataatgactgctcttgtgccaagatgcaagatctgcttaaaaaagcttctgaagaggaccatacaaatgccgcctgcttcgcctgcatcctcttaagccatggagaagaaaatgtaatttatgggaaagatggtgtcacaccaataaaggatttgacagcccactttaggggggatagatgcaaaacccttttagagaaacccaaactcttcttcattcaggcttgccgagggaccgagcttgatgatggcatccaggccgactcggggcccatcaatgacacagatgctaatcctcgatacaagatcccagtggaagctgacttcctcttcgcctattccacggttccaggctattactcgtggaggagcccaggaagaggctcctggtttgtgcaagccctctgctccatcctggaggagcacggaaaagacctggaaatcatgcagatcctcaccagggtgaatgacagagttgccaggcactttgagtctcagtctgatgacccacacttccatgagaagaagcagatcccctgtgtggtctccatgctcaccaaggaactctacttcagtcaatagccatatcaggggtacattctagctgagaagcaatgggtcactcattaatgaatcacatttttttatgctcttgaaatattcagaaattctccaggattttaatttcaggaaaatgtattgattcaacagggaagaaactttctggtgctgtcttttgttctctgaattttcagagactttttttataatgttattcatttggtgactgtgtaactttctcttaagattaattttctctttgtatgtctgttaccttgttaatagacttaatacatgcaacagaagtgacttctggagaaagctcatggctgtgtccactgcaattggtggtaacagtggtagagtcatgtttgcacttggcaaaaagaatcccaatgtttgacaaaacacagccaaggggatatttactgctctttattgcagaatgtgggtattgagtgtgatttgaatgatttttcattggcttagggcagattttcatgcaaaagttctcatatgagttagaggagaaaaagcttaatgattctgatatgtatccatcaggatccagtctggaaaacagaaaccattctaggtgtttcaacagagggagtttaatacaggaaattgacttacatagatgataaaagagaagccaaacagcaagaagctgttaccacacccagggctatgaggataatgggaagaggtttggtttcctgtgtccagtagtgggatcatccagaggagctggaaccatggtgggggctgcctagtgggagttaggaccaccaatggattgtggaaaatggagccatgacaagaacaaagccactgactgagatggagtgagctgagacagataagagaataccttggtctcacctatcctgccctcacatcttccaccagcaccttactgcccaggcctatctggaagccacctcaccaaggaccttggaagagcaagggacagtgaggcaggagaagaacaagaaatggatgtaagcctggcccataatgtgaacataagtaatcactaatgctcaacaatttatccattcaatcatttattcattgggttgtcagatagtctatgtatgtgtaaaacaatctgttttggctttatgtgcaaaatctgttatagctttaaaatatatctggaactttttagattattccaagccttattttgagtaaatatttgttacttttagttctataagtgaggaagagtttatggcaaagatttttggcactttgttttcaagatggtgttatcttttgaattcttgataaatgactgtttttttctgcctaatagtaactggttaaaaaacaaatgttcatatttattgattaaaaatgtggttgcttaattcctaaccagaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:840 -> Molecular function: GO:0004190 [aspartic-type endopeptidase activity] evidence: IEA
GeneID:840 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: TAS
GeneID:840 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:840 -> Molecular function: GO:0008234 [cysteine-type peptidase activity] evidence: TAS
GeneID:840 -> Biological process: GO:0001836 [release of cytochrome c from mitochondria] evidence: IEA
GeneID:840 -> Biological process: GO:0006508 [proteolysis] evidence: IDA
GeneID:840 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:840 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA
GeneID:840 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
GeneID:840 -> Biological process: GO:0007507 [heart development] evidence: IEA
GeneID:840 -> Biological process: GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] evidence: TAS
GeneID:840 -> Biological process: GO:0009411 [response to UV] evidence: IEA
GeneID:840 -> Biological process: GO:0016485 [protein processing] evidence: IEA
GeneID:840 -> Biological process: GO:0043525 [positive regulation of neuron apoptotic process] evidence: IEA
GeneID:840 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS
GeneID:840 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:840 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:840 -> Cellular component: GO:0005737 [cytoplasm] evidence: TAS
GeneID:840 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001218 -> EC 3.4.22.60
by
@meso_cacase at
DBCLS
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