Home |
Help |
Advanced search
2024-04-24 20:19:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001267056 2485 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens caspase 7, apoptosis-related cysteine peptidase
(CASP7), transcript variant e, mRNA.
ACCESSION NM_001267056
VERSION NM_001267056.1 GI:388596697
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 2485)
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 2485)
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 2485)
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 2485)
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 2485)
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 2485)
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 2485)
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 2485)
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 2485)
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 2485)
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 DC364916.1, BX647973.1,
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 (e) 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.
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 :: BX647973.1, BX458514.2 [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
1-132 DC364916.1 1-132
133-200 DC364916.1 134-201
201-1909 BX647973.1 132-1840
1910-2465 BM976488.1 17-572 c
2466-2485 BQ006259.1 1-20 c
FEATURES Location/Qualifiers
source 1..2485
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q25"
gene 1..2485
/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..188
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 19
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147508769"
variation 22
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:377582080"
variation 184
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:184916498"
CDS 189..1100
/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 e; 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_001253985.1"
/db_xref="GI:388596698"
/db_xref="CCDS:CCDS7581.1"
/db_xref="GeneID:840"
/db_xref="HGNC:1508"
/db_xref="MIM:601761"
/translation="
MADDQGCIEEQGVEDSANEDSVDAKPDRSSFVPSLFSKKKKNVTMRSIKTTRDRVPTYQYNMNFEKLGKCIIINNKNFDKVTGMGVRNGTDKDAEALFKCFRSLGFDVIVYNDCSCAKMQDLLKKASEEDHTNAACFACILLSHGEENVIYGKDGVTPIKDLTAHFRGDRCKTLLEKPKLFFIQACRGTELDDGIQADSGPINDTDANPRYKIPVEADFLFAYSTVPGYYSWRSPGRGSWFVQALCSILEEHGKDLEIMQILTRVNDRVARHFESQSDDPHFHEKKQIPCVVSMLTKELYFSQ
"
mat_peptide 258..782
/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 366..1091
/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(447..449,621..623,738..740,759..761,876..893,
903..908)
/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(618..620,744..746)
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="active site"
/db_xref="CDD:28914"
misc_feature order(762..764,831..836,855..857,864..866,873..875,
942..944,966..968,984..986,1044..1046,1059..1064,
1068..1070,1077..1082)
/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(765..767,828..830)
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/note="proteolytic cleavage site; other site"
/db_xref="CDD:28914"
mat_peptide 807..1097
/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 189..298
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 200
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:11555408"
variation 223
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147218371"
variation 232
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="t"
/db_xref="dbSNP:367975864"
variation 270
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372133111"
variation 271
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:115389257"
variation 289
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:372587822"
exon 299..435
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 325
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:148675407"
variation 348
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:112348087"
variation 356
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141263741"
variation 389
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150759529"
exon 436..564
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 444
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:115183028"
variation 452
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:181777209"
variation 470
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:199874997"
variation 476
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:114786731"
variation 482
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:143659216"
variation 492
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:202060178"
variation 493
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146796754"
variation 497
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:2229998"
variation 524
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:144555540"
variation 551
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:368309877"
variation 554
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:115421189"
variation 558
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="a"
/db_xref="dbSNP:72431166"
exon 565..740
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 589
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:372396520"
variation 611
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:374718188"
variation 674
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:193124738"
variation 679
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:369067741"
variation 683
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:116709623"
variation 689
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:143354631"
variation 700
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:201040237"
variation 722
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:75516871"
variation 729
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141266925"
exon 741..870
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 747
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:373690332"
variation 748
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376348175"
variation 756
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:187106799"
variation 776
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370774542"
variation 784
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375409071"
variation 785
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146952079"
variation 792
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:367682197"
variation 817
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370400085"
variation 856
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116560793"
variation 862
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200665202"
variation 868
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:137956734"
exon 871..2469
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/inference="alignment:Splign:1.39.8"
variation 881
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1127684"
variation 888
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:200326742"
variation 899
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:112264603"
variation 929
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:191429899"
variation 953
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:2227310"
variation 968
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:2227309"
variation 978
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116437863"
variation 988
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:61755278"
variation 1016
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373028643"
variation 1028
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377322540"
variation 1036
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373624501"
variation 1055..1056
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="c"
/db_xref="dbSNP:35322299"
variation 1055
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:61755279"
variation 1095
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:78202169"
variation 1097
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:61757658"
variation 1134
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:143800552"
variation 1158
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace=""
/replace="t"
/db_xref="dbSNP:372361034"
variation 1171
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:76579192"
variation 1215
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:112631326"
variation 1285
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:148146424"
variation 1390
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:4353229"
variation 1431
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1127685"
variation 1440
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1127686"
variation 1451
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:10787498"
variation 1456
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:183912507"
variation 1473
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:77191867"
variation 1568
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:188652831"
variation 1662
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:141018894"
variation 1788
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:79838074"
variation 1861
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:12247479"
variation 1866
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:181350515"
variation 1874
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116185385"
variation 1910
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1127687"
STS 1960..2057
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="D10S1306E"
/db_xref="UniSTS:151338"
STS 1987..2222
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="RH18047"
/db_xref="UniSTS:8837"
variation 1991
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:12247588"
variation 2100
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150326299"
variation 2224
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:186832916"
variation 2266
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:137932518"
STS 2308..2457
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/standard_name="SHGC-33054"
/db_xref="UniSTS:60686"
variation 2410
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:190021522"
polyA_signal 2438..2443
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
polyA_site 2465
/gene="CASP7"
/gene_synonym="CASP-7; CMH-1; ICE-LAP3; LICE2; MCH3"
ORIGIN
aacaaatatttcccgaaagatccaggagcagcatctccaccagcaagctgggctgctgggtgggtacttccttcaaagctgagggagcgtcctacgcccacgcgcgcaggagggcgccccccgcaaagcaacgtctaggagaccacagtggatgccacagcgggcccgaagcggatcagccttgtgggatggcagatgatcagggctgtattgaagagcagggggttgaggattcagcaaatgaagattcagtggatgctaagccagaccggtcctcgtttgtaccgtccctcttcagtaagaagaagaaaaatgtcaccatgcgatccatcaagaccacccgggaccgagtgcctacatatcagtacaacatgaattttgaaaagctgggcaaatgcatcataataaacaacaagaactttgataaagtgacaggtatgggcgttcgaaacggaacagacaaagatgccgaggcgctcttcaagtgcttccgaagcctgggttttgacgtgattgtctataatgactgctcttgtgccaagatgcaagatctgcttaaaaaagcttctgaagaggaccatacaaatgccgcctgcttcgcctgcatcctcttaagccatggagaagaaaatgtaatttatgggaaagatggtgtcacaccaataaaggatttgacagcccactttaggggggatagatgcaaaacccttttagagaaacccaaactcttcttcattcaggcttgccgagggaccgagcttgatgatggcatccaggccgactcggggcccatcaatgacacagatgctaatcctcgatacaagatcccagtggaagctgacttcctcttcgcctattccacggttccaggctattactcgtggaggagcccaggaagaggctcctggtttgtgcaagccctctgctccatcctggaggagcacggaaaagacctggaaatcatgcagatcctcaccagggtgaatgacagagttgccaggcactttgagtctcagtctgatgacccacacttccatgagaagaagcagatcccctgtgtggtctccatgctcaccaaggaactctacttcagtcaatagccatatcaggggtacattctagctgagaagcaatgggtcactcattaatgaatcacatttttttatgctcttgaaatattcagaaattctccaggattttaatttcaggaaaatgtattgattcaacagggaagaaactttctggtgctgtcttttgttctctgaattttcagagactttttttataatgttattcatttggtgactgtgtaactttctcttaagattaattttctctttgtatgtctgttaccttgttaatagacttaatacatgcaacagaagtgacttctggagaaagctcatggctgtgtccactgcaattggtggtaacagtggtagagtcatgtttgcacttggcaaaaagaatcccaatgtttgacaaaacacagccaaggggatatttactgctctttattgcagaatgtgggtattgagtgtgatttgaatgatttttcattggcttagggcagattttcatgcaaaagttctcatatgagttagaggagaaaaagcttaatgattctgatatgtatccatcaggatccagtctggaaaacagaaaccattctaggtgtttcaacagagggagtttaatacaggaaattgacttacatagatgataaaagagaagccaaacagcaagaagctgttaccacacccagggctatgaggataatgggaagaggtttggtttcctgtgtccagtagtgggatcatccagaggagctggaaccatggtgggggctgcctagtgggagttaggaccaccaatggattgtggaaaatggagccatgacaagaacaaagccactgactgagatggagtgagctgagacagataagagaataccttggtctcacctatcctgccctcacatcttccaccagcaccttactgcccaggcctatctggaagccacctcaccaaggaccttggaagagcaagggacagtgaggcaggagaagaacaagaaatggatgtaagcctggcccataatgtgaacataagtaatcactaatgctcaacaatttatccattcaatcatttattcattgggttgtcagatagtctatgtatgtgtaaaacaatctgttttggctttatgtgcaaaatctgttatagctttaaaatatatctggaactttttagattattccaagccttattttgagtaaatatttgttacttttagttctataagtgaggaagagtttatggcaaagatttttggcactttgttttcaagatggtgttatcttttgaattcttgataaatgactgtttttttctgcctaatagtaactggttaaaaaacaaatgttcatatttattgattaaaaatgtggttgcttaattcctaaccagaaaaaaaaaaaaaaaa
//
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_001253985 -> EC 3.4.22.60
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.