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2024-04-25 15:37:19, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032992 1394 bp mRNA linear PRI 08-JUN-2013
DEFINITION Homo sapiens caspase 6, apoptosis-related cysteine peptidase
(CASP6), transcript variant beta, mRNA.
ACCESSION NM_032992
VERSION NM_032992.2 GI:73622127
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 1394)
AUTHORS Velazquez-Delgado,E.M. and Hardy,J.A.
TITLE Zinc-mediated allosteric inhibition of caspase-6
JOURNAL J. Biol. Chem. 287 (43), 36000-36011 (2012)
PUBMED 22891250
REMARK GeneRIF: binding of zinc at the exosite is the primary route of
inhibition, potentially locking caspase-6 into the inactive helical
conformation.
Erratum:[J Biol Chem. 2013 Apr 19;288(16):11508]
REFERENCE 2 (bases 1 to 1394)
AUTHORS Stanger,K., Steffek,M., Zhou,L., Pozniak,C.D., Quan,C., Franke,Y.,
Tom,J., Tam,C., Krylova,I., Elliott,J.M., Lewcock,J.W., Zhang,Y.,
Murray,J. and Hannoush,R.N.
TITLE Allosteric peptides bind a caspase zymogen and mediate caspase
tetramerization
JOURNAL Nat. Chem. Biol. 8 (7), 655-660 (2012)
PUBMED 22683611
REMARK GeneRIF: peptide binds at a tetramerization interface that is
uniquely present in zymogen caspase-6, rather than binding into the
active site, and acts via a new allosteric mechanism that promotes
caspase tetramerization
Erratum:[Nat Chem Biol. 2012 Jul;8(7). doi: 10.1038/nchembio.967.
Krylova, Irina [added]]
REFERENCE 3 (bases 1 to 1394)
AUTHORS Cao,Q., Wang,X.J., Liu,C.W., Liu,D.F., Li,L.F., Gao,Y.Q. and
Su,X.D.
TITLE Inhibitory mechanism of caspase-6 phosphorylation revealed by
crystal structures, molecular dynamics simulations, and biochemical
assays
JOURNAL J. Biol. Chem. 287 (19), 15371-15379 (2012)
PUBMED 22433863
REMARK GeneRIF: Results showed the inhibition mechanism of CASP6
phosphorylation and laid the foundation for a new strategy of
rational CASP6 drug design.
REFERENCE 4 (bases 1 to 1394)
AUTHORS Soares,J., Lowe,M.M. and Jarstfer,M.B.
TITLE The catalytic subunit of human telomerase is a unique caspase-6 and
caspase-7 substrate
JOURNAL Biochemistry 50 (42), 9046-9055 (2011)
PUBMED 21936563
REMARK GeneRIF: Caspase-6 cleaves human TERT at residues E129 and D637 as
part of the apoptosis pathway in cultured cells.
REFERENCE 5 (bases 1 to 1394)
AUTHORS Muller,I., Lamers,M.B., Ritchie,A.J., Park,H., Dominguez,C.,
Munoz-Sanjuan,I., Maillard,M. and Kiselyov,A.
TITLE A new apo-caspase-6 crystal form reveals the active conformation of
the apoenzyme
JOURNAL J. Mol. Biol. 410 (2), 307-315 (2011)
PUBMED 21621544
REMARK GeneRIF: New crystal form of apo-caspase-6 is presented in
canonical conformation by identifying the previous apostructure as
a hydrogen-ion concentration (pH)-inactivated form of caspase-6.
REFERENCE 6 (bases 1 to 1394)
AUTHORS Bullrich,F., Fernandes-Alnemri,T., Litwack,G., Alnemri,E.S. and
Croce,C.M.
TITLE Chromosomal mapping of cell death proteases CPP32, MCH2, and MCH3
JOURNAL Genomics 36 (2), 362-365 (1996)
PUBMED 8812467
REFERENCE 7 (bases 1 to 1394)
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 8 (bases 1 to 1394)
AUTHORS Takahashi,A., Alnemri,E.S., Lazebnik,Y.A., Fernandes-Alnemri,T.,
Litwack,G., Moir,R.D., Goldman,R.D., Poirier,G.G., Kaufmann,S.H.
and Earnshaw,W.C.
TITLE Cleavage of lamin A by Mch2 alpha but not CPP32: multiple
interleukin 1 beta-converting enzyme-related proteases with
distinct substrate recognition properties are active in apoptosis
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (16), 8395-8400 (1996)
PUBMED 8710882
REFERENCE 9 (bases 1 to 1394)
AUTHORS Fernandes-Alnemri,T., Litwack,G. and Alnemri,E.S.
TITLE Mch2, a new member of the apoptotic Ced-3/Ice cysteine protease
gene family
JOURNAL Cancer Res. 55 (13), 2737-2742 (1995)
PUBMED 7796396
REFERENCE 10 (bases 1 to 1394)
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
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from U20536.1, U20537.1, BM837197.1
and AC004067.1.
On Aug 19, 2005 this sequence version replaced gi:14916484.
Summary: This gene encodes a protein which is 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. This protein is processed by caspases 7, 8 and 10,
and is thought to function as a downstream enzyme in the caspase
activation cascade. Alternative splicing of this gene results in
two transcript variants that encode different isoforms. [provided
by RefSeq, Jul 2008].
Transcript Variant: This variant (beta) lacks several exons in the
coding region but maintains the reading frame, compared to variant
alpha. It encodes isoform beta which is shorter than isoform alpha.
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 :: U20537.1, BM837197.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025092 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-78 U20536.1 1-78
79-289 U20537.1 1-211
290-734 BM837197.1 236-680
735-1394 AC004067.1 116153-116812 c
FEATURES Location/Qualifiers
source 1..1394
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q25"
gene 1..1394
/gene="CASP6"
/gene_synonym="MCH2"
/note="caspase 6, apoptosis-related cysteine peptidase"
/db_xref="GeneID:839"
/db_xref="HGNC:1507"
/db_xref="HPRD:03321"
/db_xref="MIM:601532"
exon 1..118
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
CDS 79..693
/gene="CASP6"
/gene_synonym="MCH2"
/EC_number="3.4.22.59"
/note="isoform beta is encoded by transcript variant beta;
caspase 6, apoptosis-related cysteine protease; apoptotic
protease MCH-2"
/codon_start=1
/product="caspase-6 isoform beta"
/protein_id="NP_116787.1"
/db_xref="GI:14916485"
/db_xref="CCDS:CCDS3685.1"
/db_xref="GeneID:839"
/db_xref="HGNC:1507"
/db_xref="HPRD:03321"
/db_xref="MIM:601532"
/translation="
MSSASGLRRGHPAVSTVSHADADCFVCVFLSHGEGNHIYAYDAKIEIQTLTGLFKGDKCHSLVGKPKIFIIQACRGNQHDVPVIPLDVVDNQTEKLDTNITEVDAASVYTLPAGADFLMCYSVAEGYYSHRETVNGSWYIQDLCEMLGKYGSSLEFTELLTLVNRKVSQRRVDFCKDPSAIGKKQVPCFASMLTKKLHFFPKSN
"
misc_feature <118..678
/gene="CASP6"
/gene_synonym="MCH2"
/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(172..174,298..300)
/gene="CASP6"
/gene_synonym="MCH2"
/note="active site"
/db_xref="CDD:28914"
misc_feature order(175..177,292..294,313..315,460..477,487..492)
/gene="CASP6"
/gene_synonym="MCH2"
/note="substrate pocket [chemical binding]; other site"
/db_xref="CDD:28914"
misc_feature order(316..318,415..420,439..441,448..450,457..459,
526..528,550..552,568..570,628..630,643..648,652..654,
661..666)
/gene="CASP6"
/gene_synonym="MCH2"
/note="dimer interface [polypeptide binding]; other site"
/db_xref="CDD:28914"
misc_feature order(319..321,412..414)
/gene="CASP6"
/gene_synonym="MCH2"
/note="proteolytic cleavage site; other site"
/db_xref="CDD:28914"
misc_feature 346..348
/gene="CASP6"
/gene_synonym="MCH2"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:02799"
misc_feature 388..390
/gene="CASP6"
/gene_synonym="MCH2"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:02799"
exon 119..294
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
variation 136
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:5030674"
variation 144
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2227927"
variation 216
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:3180479"
variation 291
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:3211296"
exon 295..454
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
variation 355
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:5030593"
exon 455..1394
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
STS 492..1391
/gene="CASP6"
/gene_synonym="MCH2"
/standard_name="CASP6_488"
/db_xref="UniSTS:277052"
variation 715
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042889"
STS 818..950
/gene="CASP6"
/gene_synonym="MCH2"
/standard_name="D15S1477"
/db_xref="UniSTS:474482"
STS 832..955
/gene="CASP6"
/gene_synonym="MCH2"
/standard_name="D11S2560"
/db_xref="UniSTS:37928"
variation 853
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:5030599"
variation 978
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:5030600"
variation 1052
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11770"
variation 1066
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:5030601"
variation 1093
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042891"
variation 1106
/gene="CASP6"
/gene_synonym="MCH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1802755"
variation 1127
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:199579435"
variation 1144..1145
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:11574700"
variation 1388
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:3182325"
ORIGIN
ccgagggcggggccgggcccgggagcctgtggcttcaggaagaggagggcaaggtgtctggctgcgcgtttggctgcaatgagctcggcctcggggctccgcagggggcacccggcagtgtcaactgttagccacgcagatgccgattgctttgtgtgtgtcttcctgagccatggcgaaggcaatcacatttatgcatatgatgctaaaatcgaaattcagacattaactggcttgttcaaaggagacaagtgtcacagcctggttggaaaacccaagatatttatcattcaggcatgtcggggaaaccagcacgatgtgccagtcattcctttggatgtagtagataatcagacagagaagttggacaccaacataactgaggtggatgcagcctccgtttacacgctgcctgctggagctgacttcctcatgtgttactctgttgcagaaggatattattctcaccgggaaactgtgaacggctcatggtacattcaagatttgtgtgagatgttgggaaaatatggctcctccttagagttcacagaactcctcacactggtgaacaggaaagtttctcagcgccgagtggacttttgcaaagacccaagtgcaattggaaagaagcaggttccctgttttgcctcaatgctaactaaaaagctgcatttctttccaaaatctaattaattaatagaggctatctaattttacactctgtattgaaaatggctttctcagccaggcgtggttactcacacctgtaatcccagcactttgggagtccaaggtgggcggatcacctgaggtcgggagttcgagaccagcctgaccaacatggagaagccccgtctctactaaaaatgcaaaaaaaaatttagctaggcatggcggcgcatgcctgcaatcccagctacttggaaggctgaggcaggagaatcacttgaacccaggaggtggaggctgcggtgagccgagattgcgccattgcactccagcctgggcaacgagtgaaactccgtctcaaaaaaaagaaaatgtctttctcttccttttatataaatatcgttagggtgaagcattatggtctaatgattcaaatgttttaaagtttaatgcctagcagagaactgccttaaaaaaaaaaaaaaaaagttcatgttggccatggtgaaagggtttgatatggagaaacaaaatcctcaggaaattagataaataaaaatttataagcatttgtattattttttaataaactgcagggttacacaaaaatctagctgatttaacttgtattttgtcacttttttataaaagtttattgtttgatgtttttaaaggtttttgaaatccaggaattaaatcatcccttaataaaatattcgaaattc
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:839 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: TAS
GeneID:839 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:839 -> Molecular function: GO:0008234 [cysteine-type peptidase activity] evidence: TAS
GeneID:839 -> Biological process: GO:0006508 [proteolysis] evidence: IDA
GeneID:839 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:839 -> Biological process: GO:0006917 [induction of apoptosis] evidence: TAS
GeneID:839 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
GeneID:839 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:839 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:839 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:839 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:839 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
GeneID:839 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_116787 -> EC 3.4.22.59
by
@meso_cacase at
DBCLS
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