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2024-04-24 14:39:55, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001267057 2638 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens caspase 7, apoptosis-related cysteine peptidase
(CASP7), transcript variant f, mRNA.
ACCESSION NM_001267057
VERSION NM_001267057.1 GI:388596699
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 2638)
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 2638)
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 2638)
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 2638)
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 2638)
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 2638)
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 2638)
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 2638)
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 2638)
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 2638)
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,
AK301437.1, BC015799.1, BM976488.1 and BQ006259.1.
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 (f) lacks an internal exon in the
5' region and initiates translation at an alternate upstream start
codon, compared to variant d. The encoded isoform (e) is longer and
has a distinct 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 :: AK301437.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025094 [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
142-217 AL627395.14 7738-7813
218-321 AK301437.1 1-104
322-322 AL627395.14 25433-25433
323-612 AK301437.1 106-395
613-2062 BC015799.1 350-1799
2063-2618 BM976488.1 17-572 c
2619-2638 BQ006259.1 1-20 c
FEATURES Location/Qualifiers
source 1..2638
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q25"
gene 1..2638
/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="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"
CDS 87..1253
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/EC_number="3.4.22.60"
/note="isoform e is encoded by transcript variant f;
caspase 7, apoptosis-related cysteine protease; ICE-like
apoptotic protease 3; apoptotic protease MCH-3"
/codon_start=1
/product="caspase-7 isoform e"
/protein_id="NP_001253986.1"
/db_xref="GI:388596700"
/db_xref="GeneID:840"
/db_xref="HGNC:1508"
/db_xref="MIM:601761"
/translation="
MRAGTRVALGSSTPAERTTPSQGRCKPRPALPRAAPPSAAPRLLVSLSLKGPQTLAAERRRETVPVPAALPPWERWQMIRAVLKSRGLRIQQMKIQWMLSQTGPRLYRPSSAPDSGTLYFTSKKKKNVTMRSIKTTRDRVPTYQYNMNFEKLGKCIIINNKNFDKVTGMGVRNGTDKDAEALFKCFRSLGFDVIVYNDCSCAKMQDLLKKASEEDHTNAACFACILLSHGEENVIYGKDGVTPIKDLTAHFRGDRCKTLLEKPKLFFIQACRGTELDDGIQADSGPINDTDANPRYKIPVEADFLFAYSTVPGYYSWRSPGRGSWFVQALCSILEEHGKDLEIMQILTRVNDRVARHFESQSDDPHFHEKKQIPCVVSMLTKELYFSQ
"
misc_feature 519..1244
/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(600..602,774..776,891..893,912..914,1029..1046,
1056..1061)
/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(771..773,897..899)
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="active site"
/db_xref="CDD:28914"
misc_feature order(915..917,984..989,1008..1010,1017..1019,1026..1028,
1095..1097,1119..1121,1137..1139,1197..1199,1212..1217,
1221..1223,1230..1235)
/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(918..920,981..983)
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="proteolytic cleavage site; other site"
/db_xref="CDD:28914"
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"
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..588
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 449
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:78946854"
variation 478
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:148675407"
variation 501
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:112348087"
variation 509
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141263741"
variation 542
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150759529"
exon 589..717
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 597
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:115183028"
variation 605
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:181777209"
variation 623
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:199874997"
variation 629
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:114786731"
variation 635
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:143659216"
variation 645
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:202060178"
variation 646
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146796754"
variation 650
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:2229998"
variation 677
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:144555540"
variation 704
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:368309877"
variation 707
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:115421189"
variation 711
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="a"
/db_xref="dbSNP:72431166"
exon 718..893
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 742
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:372396520"
variation 764
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:374718188"
variation 827
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:193124738"
variation 832
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:369067741"
variation 836
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:116709623"
variation 842
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:143354631"
variation 853
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:201040237"
variation 875
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:75516871"
variation 882
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141266925"
exon 894..1023
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 900
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:373690332"
variation 901
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376348175"
variation 909
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:187106799"
variation 929
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370774542"
variation 937
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375409071"
variation 938
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146952079"
variation 945
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:367682197"
variation 970
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370400085"
variation 1009
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116560793"
variation 1015
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200665202"
variation 1021
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:137956734"
exon 1024..2622
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 1034
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1127684"
variation 1041
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:200326742"
variation 1052
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:112264603"
variation 1082
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:191429899"
variation 1106
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:2227310"
variation 1121
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:2227309"
variation 1131
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116437863"
variation 1141
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:61755278"
variation 1169
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373028643"
variation 1181
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377322540"
variation 1189
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373624501"
variation 1208..1209
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="c"
/db_xref="dbSNP:35322299"
variation 1208
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:61755279"
variation 1248
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:78202169"
variation 1250
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:61757658"
variation 1287
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:143800552"
variation 1311
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="t"
/db_xref="dbSNP:372361034"
variation 1324
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:76579192"
variation 1368
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:112631326"
variation 1438
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:148146424"
variation 1543
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:4353229"
variation 1584
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1127685"
variation 1593
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1127686"
variation 1604
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:10787498"
variation 1609
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:183912507"
variation 1626
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:77191867"
variation 1721
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:188652831"
variation 1815
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:141018894"
variation 1941
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:79838074"
variation 2014
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:12247479"
variation 2019
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:181350515"
variation 2027
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116185385"
variation 2063
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1127687"
STS 2113..2210
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="D10S1306E"
/db_xref="UniSTS:151338"
STS 2140..2375
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="RH18047"
/db_xref="UniSTS:8837"
variation 2144
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:12247588"
variation 2253
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150326299"
variation 2377
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:186832916"
variation 2419
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:137932518"
STS 2461..2610
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="SHGC-33054"
/db_xref="UniSTS:60686"
variation 2563
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:190021522"
polyA_signal 2591..2596
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
polyA_site 2618
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
ORIGIN
cccgcgcgcgggctcaactttgtagagcgaggggccaacttggcagagcgcgcggccagctttgcagagagcgccctccagggactatgcgtgcggggacacgggtcgctttgggctcttccacccctgcggagcgcactaccccgagccaggggcggtgcaagccccgcccggccctacccagggcggctcctccctccgcagcgccgagacttttagtttcgctttcgctaaaggggccccagacccttgctgcggagcgacggagagagactgtgccagtcccagccgccctaccgccgtgggaacgatggcagatgatcagggctgtattgaagagcagggggttgaggattcagcaaatgaagattcagtggatgctaagccagaccggtcctcgtttgtaccgtccctcttcagcccctgactctggaactttatatttcaccagtaagaagaagaaaaatgtcaccatgcgatccatcaagaccacccgggaccgagtgcctacatatcagtacaacatgaattttgaaaagctgggcaaatgcatcataataaacaacaagaactttgataaagtgacaggtatgggcgttcgaaacggaacagacaaagatgccgaggcgctcttcaagtgcttccgaagcctgggttttgacgtgattgtctataatgactgctcttgtgccaagatgcaagatctgcttaaaaaagcttctgaagaggaccatacaaatgccgcctgcttcgcctgcatcctcttaagccatggagaagaaaatgtaatttatgggaaagatggtgtcacaccaataaaggatttgacagcccactttaggggggatagatgcaaaacccttttagagaaacccaaactcttcttcattcaggcttgccgagggaccgagcttgatgatggcatccaggccgactcggggcccatcaatgacacagatgctaatcctcgatacaagatcccagtggaagctgacttcctcttcgcctattccacggttccaggctattactcgtggaggagcccaggaagaggctcctggtttgtgcaagccctctgctccatcctggaggagcacggaaaagacctggaaatcatgcagatcctcaccagggtgaatgacagagttgccaggcactttgagtctcagtctgatgacccacacttccatgagaagaagcagatcccctgtgtggtctccatgctcaccaaggaactctacttcagtcaatagccatatcaggggtacattctagctgagaagcaatgggtcactcattaatgaatcacatttttttatgctcttgaaatattcagaaattctccaggattttaatttcaggaaaatgtattgattcaacagggaagaaactttctggtgctgtcttttgttctctgaattttcagagactttttttataatgttattcatttggtgactgtgtaactttctcttaagattaattttctctttgtatgtctgttaccttgttaatagacttaatacatgcaacagaagtgacttctggagaaagctcatggctgtgtccactgcaattggtggtaacagtggtagagtcatgtttgcacttggcaaaaagaatcccaatgtttgacaaaacacagccaaggggatatttactgctctttattgcagaatgtgggtattgagtgtgatttgaatgatttttcattggcttagggcagattttcatgcaaaagttctcatatgagttagaggagaaaaagcttaatgattctgatatgtatccatcaggatccagtctggaaaacagaaaccattctaggtgtttcaacagagggagtttaatacaggaaattgacttacatagatgataaaagagaagccaaacagcaagaagctgttaccacacccagggctatgaggataatgggaagaggtttggtttcctgtgtccagtagtgggatcatccagaggagctggaaccatggtgggggctgcctagtgggagttaggaccaccaatggattgtggaaaatggagccatgacaagaacaaagccactgactgagatggagtgagctgagacagataagagaataccttggtctcacctatcctgccctcacatcttccaccagcaccttactgcccaggcctatctggaagccacctcaccaaggaccttggaagagcaagggacagtgaggcaggagaagaacaagaaatggatgtaagcctggcccataatgtgaacataagtaatcactaatgctcaacaatttatccattcaatcatttattcattgggttgtcagatagtctatgtatgtgtaaaacaatctgttttggctttatgtgcaaaatctgttatagctttaaaatatatctggaactttttagattattccaagccttattttgagtaaatatttgttacttttagttctataagtgaggaagagtttatggcaaagatttttggcactttgttttcaagatggtgttatcttttgaattcttgataaatgactgtttttttctgcctaatagtaactggttaaaaaacaaatgttcatatttattgattaaaaatgtggttgcttaattcctaaccagaaaaaaaaaaaaaaaa
//
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_001253986 -> EC 3.4.22.60
by
@meso_cacase at
DBCLS
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