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2024-04-20 18:23:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_033339 2681 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens caspase 7, apoptosis-related cysteine peptidase
(CASP7), transcript variant c, mRNA.
ACCESSION NM_033339
VERSION NM_033339.4 GI:388596694
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 2681)
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 2681)
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 2681)
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 2681)
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 2681)
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 2681)
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 2681)
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 2681)
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 2681)
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 2681)
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,
BC015799.1, BM976488.1 and BQ006259.1.
On May 30, 2012 this sequence version replaced gi:73623016.
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 (c, also known as gamma) 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 :: U67206.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081 [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
142-142 AL627395.14 7738-7738
143-1076 U67206.1 145-1078
1077-2105 BC015799.1 771-1799
2106-2661 BM976488.1 17-572 c
2662-2681 BQ006259.1 1-20 c
FEATURES Location/Qualifiers
source 1..2681
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q25"
gene 1..2681
/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"
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"
misc_feature 232..234
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="upstream in-frame stop codon"
variation 262
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:140427264"
exon 311..384
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 314
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:201587909"
variation 336
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:12358524"
variation 345
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:137892089"
variation 346
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369498618"
variation 361
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:77808789"
variation 372
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:369110611"
variation 373
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:201036297"
CDS 385..1296
/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 c; 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_203125.1"
/db_xref="GI:15718700"
/db_xref="CCDS:CCDS7581.1"
/db_xref="GeneID:840"
/db_xref="HGNC:1508"
/db_xref="MIM:601761"
/translation="
MADDQGCIEEQGVEDSANEDSVDAKPDRSSFVPSLFSKKKKNVTMRSIKTTRDRVPTYQYNMNFEKLGKCIIINNKNFDKVTGMGVRNGTDKDAEALFKCFRSLGFDVIVYNDCSCAKMQDLLKKASEEDHTNAACFACILLSHGEENVIYGKDGVTPIKDLTAHFRGDRCKTLLEKPKLFFIQACRGTELDDGIQADSGPINDTDANPRYKIPVEADFLFAYSTVPGYYSWRSPGRGSWFVQALCSILEEHGKDLEIMQILTRVNDRVARHFESQSDDPHFHEKKQIPCVVSMLTKELYFSQ
"
misc_feature 451..453
/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 454..978
/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 562..1287
/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(643..645,817..819,934..936,955..957,1072..1089,
1099..1104)
/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(814..816,940..942)
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="active site"
/db_xref="CDD:28914"
misc_feature order(958..960,1027..1032,1051..1053,1060..1062,
1069..1071,1138..1140,1162..1164,1180..1182,1240..1242,
1255..1260,1264..1266,1273..1278)
/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(961..963,1024..1026)
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="proteolytic cleavage site; other site"
/db_xref="CDD:28914"
misc_feature 976..978
/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 1003..1293
/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 385..494
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 396
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:11555408"
variation 419
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147218371"
variation 428
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="t"
/db_xref="dbSNP:367975864"
variation 466
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372133111"
variation 467
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:115389257"
variation 485
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:372587822"
exon 495..631
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 521
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:148675407"
variation 544
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:112348087"
variation 552
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141263741"
variation 585
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150759529"
exon 632..760
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 640
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:115183028"
variation 648
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:181777209"
variation 666
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:199874997"
variation 672
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:114786731"
variation 678
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:143659216"
variation 688
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:202060178"
variation 689
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146796754"
variation 693
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:2229998"
variation 720
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:144555540"
variation 747
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:368309877"
variation 750
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:115421189"
variation 754
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="a"
/db_xref="dbSNP:72431166"
exon 761..936
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 785
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:372396520"
variation 807
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:374718188"
variation 870
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:193124738"
variation 875
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:369067741"
variation 879
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:116709623"
variation 885
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:143354631"
variation 896
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:201040237"
variation 918
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:75516871"
variation 925
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141266925"
exon 937..1066
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 943
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:373690332"
variation 944
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376348175"
variation 952
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:187106799"
variation 972
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370774542"
variation 980
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375409071"
variation 981
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146952079"
variation 988
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:367682197"
variation 1013
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370400085"
variation 1052
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116560793"
variation 1058
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200665202"
variation 1064
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:137956734"
exon 1067..2665
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 1077
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1127684"
variation 1084
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:200326742"
variation 1095
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:112264603"
variation 1125
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:191429899"
variation 1149
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:2227310"
variation 1164
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:2227309"
variation 1174
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116437863"
variation 1184
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:61755278"
variation 1212
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373028643"
variation 1224
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377322540"
variation 1232
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373624501"
variation 1251..1252
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="c"
/db_xref="dbSNP:35322299"
variation 1251
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:61755279"
variation 1291
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:78202169"
variation 1293
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:61757658"
variation 1330
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:143800552"
variation 1354
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="t"
/db_xref="dbSNP:372361034"
variation 1367
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:76579192"
variation 1411
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:112631326"
variation 1481
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:148146424"
variation 1586
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:4353229"
variation 1627
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1127685"
variation 1636
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1127686"
variation 1647
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:10787498"
variation 1652
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:183912507"
variation 1669
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:77191867"
variation 1764
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:188652831"
variation 1858
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:141018894"
variation 1984
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:79838074"
variation 2057
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:12247479"
variation 2062
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:181350515"
variation 2070
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116185385"
variation 2106
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1127687"
STS 2156..2253
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="D10S1306E"
/db_xref="UniSTS:151338"
STS 2183..2418
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="RH18047"
/db_xref="UniSTS:8837"
variation 2187
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:12247588"
variation 2296
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150326299"
variation 2420
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:186832916"
variation 2462
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:137932518"
STS 2504..2653
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="SHGC-33054"
/db_xref="UniSTS:60686"
variation 2606
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:190021522"
polyA_signal 2634..2639
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
polyA_site 2661
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
ORIGIN
cccgcgcgcgggctcaactttgtagagcgaggggccaacttggcagagcgcgcggccagctttgcagagagcgccctccagggactatgcgtgcggggacacgggtcgctttgggctcttccacccctgcggagcgcactaccccgagccaggggcggtgcaagccccgcccggccctacccagggcggctcctccctccgcagcgccgagacttttagtttcgctttcgctaaaggggccccagacccttgctgcggagcgacggagagagactgtgccagtcccagccgccctaccgccgtgggaacggcaggaagtggcacttggaaaagaacaccagctgcggtggtagcagtgggatttgtgcttcttatgttacccagatggcagatgatcagggctgtattgaagagcagggggttgaggattcagcaaatgaagattcagtggatgctaagccagaccggtcctcgtttgtaccgtccctcttcagtaagaagaagaaaaatgtcaccatgcgatccatcaagaccacccgggaccgagtgcctacatatcagtacaacatgaattttgaaaagctgggcaaatgcatcataataaacaacaagaactttgataaagtgacaggtatgggcgttcgaaacggaacagacaaagatgccgaggcgctcttcaagtgcttccgaagcctgggttttgacgtgattgtctataatgactgctcttgtgccaagatgcaagatctgcttaaaaaagcttctgaagaggaccatacaaatgccgcctgcttcgcctgcatcctcttaagccatggagaagaaaatgtaatttatgggaaagatggtgtcacaccaataaaggatttgacagcccactttaggggggatagatgcaaaacccttttagagaaacccaaactcttcttcattcaggcttgccgagggaccgagcttgatgatggcatccaggccgactcggggcccatcaatgacacagatgctaatcctcgatacaagatcccagtggaagctgacttcctcttcgcctattccacggttccaggctattactcgtggaggagcccaggaagaggctcctggtttgtgcaagccctctgctccatcctggaggagcacggaaaagacctggaaatcatgcagatcctcaccagggtgaatgacagagttgccaggcactttgagtctcagtctgatgacccacacttccatgagaagaagcagatcccctgtgtggtctccatgctcaccaaggaactctacttcagtcaatagccatatcaggggtacattctagctgagaagcaatgggtcactcattaatgaatcacatttttttatgctcttgaaatattcagaaattctccaggattttaatttcaggaaaatgtattgattcaacagggaagaaactttctggtgctgtcttttgttctctgaattttcagagactttttttataatgttattcatttggtgactgtgtaactttctcttaagattaattttctctttgtatgtctgttaccttgttaatagacttaatacatgcaacagaagtgacttctggagaaagctcatggctgtgtccactgcaattggtggtaacagtggtagagtcatgtttgcacttggcaaaaagaatcccaatgtttgacaaaacacagccaaggggatatttactgctctttattgcagaatgtgggtattgagtgtgatttgaatgatttttcattggcttagggcagattttcatgcaaaagttctcatatgagttagaggagaaaaagcttaatgattctgatatgtatccatcaggatccagtctggaaaacagaaaccattctaggtgtttcaacagagggagtttaatacaggaaattgacttacatagatgataaaagagaagccaaacagcaagaagctgttaccacacccagggctatgaggataatgggaagaggtttggtttcctgtgtccagtagtgggatcatccagaggagctggaaccatggtgggggctgcctagtgggagttaggaccaccaatggattgtggaaaatggagccatgacaagaacaaagccactgactgagatggagtgagctgagacagataagagaataccttggtctcacctatcctgccctcacatcttccaccagcaccttactgcccaggcctatctggaagccacctcaccaaggaccttggaagagcaagggacagtgaggcaggagaagaacaagaaatggatgtaagcctggcccataatgtgaacataagtaatcactaatgctcaacaatttatccattcaatcatttattcattgggttgtcagatagtctatgtatgtgtaaaacaatctgttttggctttatgtgcaaaatctgttatagctttaaaatatatctggaactttttagattattccaagccttattttgagtaaatatttgttacttttagttctataagtgaggaagagtttatggcaaagatttttggcactttgttttcaagatggtgttatcttttgaattcttgataaatgactgtttttttctgcctaatagtaactggttaaaaaacaaatgttcatatttattgattaaaaatgtggttgcttaattcctaaccagaaaaaaaaaaaaaaaa
//
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_203125 -> EC 3.4.22.60
by
@meso_cacase at
DBCLS
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