Home |
Help |
Advanced search
2024-04-20 19:02:37, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_022121 4319 bp mRNA linear PRI 29-APR-2013
DEFINITION Homo sapiens PERP, TP53 apoptosis effector (PERP), mRNA.
ACCESSION NM_022121
VERSION NM_022121.4 GI:222080101
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 4319)
AUTHORS Dusek,R.L., Bascom,J.L., Vogel,H., Baron,S., Borowsky,A.D.,
Bissell,M.J. and Attardi,L.D.
TITLE Deficiency of the p53/p63 target Perp alters mammary gland
homeostasis and promotes cancer
JOURNAL Breast Cancer Res. 14 (2), R65 (2012)
PUBMED 22515648
REMARK GeneRIF: Perp expression is reduced in human breast cancer cell
lines
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 4319)
AUTHORS Christensen,A.H., Benn,M., Tybjaerg-Hansen,A., Haunso,S. and
Svendsen,J.H.
TITLE Screening of three novel candidate genes in arrhythmogenic right
ventricular cardiomyopathy
JOURNAL Genet Test Mol Biomarkers 15 (4), 267-271 (2011)
PUBMED 21254927
REMARK GeneRIF: Our comprehensive mutation scanning did not identify any
Arrhythmogenic right ventricular cardiomyopathy (ARVC) causing
mutations.
REFERENCE 3 (bases 1 to 4319)
AUTHORS Davies,L., Spiller,D., White,M.R., Grierson,I. and Paraoan,L.
TITLE PERP expression stabilizes active p53 via modulation of p53-MDM2
interaction in uveal melanoma cells
JOURNAL Cell Death Dis 2, E136 (2011)
PUBMED 21451571
REMARK GeneRIF: PERP expression stabilizes active p53 via modulation of
p53-MDM2 interaction in uveal melanoma cells.
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 4319)
AUTHORS Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
Schreiber,S. and Nebel,A.
TITLE Investigation of genetic susceptibility factors for human longevity
- a targeted nonsynonymous SNP study
JOURNAL Mutat. Res. 694 (1-2), 13-19 (2010)
PUBMED 20800603
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 4319)
AUTHORS Beaudry,V.G., Jiang,D., Dusek,R.L., Park,E.J., Knezevich,S.,
Ridd,K., Vogel,H., Bastian,B.C. and Attardi,L.D.
TITLE Loss of the p53/p63 regulated desmosomal protein Perp promotes
tumorigenesis
JOURNAL PLoS Genet. 6 (10), E1001168 (2010)
PUBMED 20975948
REMARK GeneRIF: Data suggest a temporal sequence whereby PERP loss occurs
before E-cadherin loss in the progression of human SCC.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 4319)
AUTHORS Ketteler,R., Sun,Z., Kovacs,K.F., He,W.W. and Seed,B.
TITLE A pathway sensor for genome-wide screens of intracellular
proteolytic cleavage
JOURNAL Genome Biol. 9 (4), R64 (2008)
PUBMED 18387192
REMARK Publication Status: Online-Only
REFERENCE 7 (bases 1 to 4319)
AUTHORS Ihrie,R.A. and Attardi,L.D.
TITLE Perp-etrating p53-dependent apoptosis
JOURNAL Cell Cycle 3 (3), 267-269 (2004)
PUBMED 14726658
REFERENCE 8 (bases 1 to 4319)
AUTHORS Bonkobara,M., Das,A., Takao,J., Cruz,P.D. and Ariizumi,K.
TITLE Identification of novel genes for secreted and membrane-anchored
proteins in human keratinocytes
JOURNAL Br. J. Dermatol. 148 (4), 654-664 (2003)
PUBMED 12752121
REFERENCE 9 (bases 1 to 4319)
AUTHORS Hildebrandt,T., Preiherr,J., Tarbe,N., Klostermann,S., Van
Muijen,G.N. and Weidle,U.H.
TITLE Identification of THW, a putative new tumor suppressor gene
JOURNAL Anticancer Res. 20 (5A), 2801-2809 (2000)
PUBMED 11062687
REFERENCE 10 (bases 1 to 4319)
AUTHORS Attardi,L.D., Reczek,E.E., Cosmas,C., Demicco,E.G., McCurrach,M.E.,
Lowe,S.W. and Jacks,T.
TITLE PERP, an apoptosis-associated target of p53, is a novel member of
the PMP-22/gas3 family
JOURNAL Genes Dev. 14 (6), 704-718 (2000)
PUBMED 10733530
REMARK GeneRIF: A paper describing the identification of Perp (p53
Apoptosis Effector Related to PMP22). Perp was found as a novel
target gene of the p53 tumor suppressor, which is selectively
induced during apoptosis compared to cell cycle arrest.
Erratum:[Genes Dev 2000 Jul 15;14(14):1835]
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
CX784592.1, BC010163.2, AL023582.1 and BU674771.1.
On Jan 28, 2009 this sequence version replaced gi:215276988.
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 :: CX784592.1, AK074585.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-124 CX784592.1 1-124
125-899 BC010163.2 1-775
900-2021 AL023582.1 61812-62933 c
2022-3642 AL023582.1 60191-61811 c
3643-4319 BU674771.1 1-677 c
FEATURES Location/Qualifiers
source 1..4319
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6q24"
gene 1..4319
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/note="PERP, TP53 apoptosis effector"
/db_xref="GeneID:64065"
/db_xref="HGNC:17637"
/db_xref="HPRD:17836"
/db_xref="MIM:609301"
exon 1..397
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/inference="alignment:Splign:1.39.8"
misc_feature 19..21
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/note="upstream in-frame stop codon"
CDS 184..765
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/note="p53-induced protein PIGPC1; 1110017A08Rik;
keratinocytes associated protein 1; p53 apoptosis effector
related to PMP22; KCP-1; transmembrane protein THW;
keratinocyte-associated protein 1"
/codon_start=1
/product="p53 apoptosis effector related to PMP-22"
/protein_id="NP_071404.2"
/db_xref="GI:31377722"
/db_xref="CCDS:CCDS5188.1"
/db_xref="GeneID:64065"
/db_xref="HGNC:17637"
/db_xref="HPRD:17836"
/db_xref="MIM:609301"
/translation="
MIRCGLACERCRWILPLLLLSAIAFDIIALAGRGWLQSSDHGQTSSLWWKCSQEGGGSGSYEEGCQSLMEYAWGRAAAAMLFCGFIILVICFILSFFALCGPQMLVFLRVIGGLLALAAVFQIISLVIYPVKYTQTFTLHANPAVTYIYNWAYGFGWAATIILIGCAFFFCCLPNYEDDLLGNAKPRYFYTSA
"
misc_feature 217..279
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96FX8.1);
transmembrane region"
misc_feature 418..480
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96FX8.1);
transmembrane region"
misc_feature 511..573
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96FX8.1);
transmembrane region"
misc_feature 634..696
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96FX8.1);
transmembrane region"
exon 398..538
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/inference="alignment:Splign:1.39.8"
exon 539..4302
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/inference="alignment:Splign:1.39.8"
variation 580
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/replace="c"
/replace="t"
/db_xref="dbSNP:11557029"
STS 610..1501
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/standard_name="PERP__5667"
/db_xref="UniSTS:463792"
variation 622
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/replace="g"
/replace="t"
/db_xref="dbSNP:11557030"
variation 1056
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/replace="c"
/replace="t"
/db_xref="dbSNP:11557031"
STS 1734..1885
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/standard_name="RH46733"
/db_xref="UniSTS:19197"
variation 1874
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/replace="c"
/replace="t"
/db_xref="dbSNP:8155"
STS 1888..2006
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/standard_name="WI-18594"
/db_xref="UniSTS:77447"
STS 4065..4178
/gene="PERP"
/gene_synonym="dJ496H19.1; KCP1; KRTCAP1; PIGPC1;
RP3-496H19.1; THW"
/standard_name="RH36130"
/db_xref="UniSTS:79211"
ORIGIN
ctctgagtcaccggaatctaggtggggccgcccggagcggcgtcctcgggagccgcctccccgcggcctcttcgcttttgtggcggcgcccgcgctcgcaggccactctctgctgtcgcccgtcccgcgcgctcctccgacccgctccgctccgctccgctcggccccgcgccgcccgtcaacatgatccgctgcggcctggcctgcgagcgctgccgctggatcctgcccctgctcctactcagcgccatcgccttcgacatcatcgcgctggccggccgcggctggttgcagtctagcgaccacggccagacgtcctcgctgtggtggaaatgctcccaagagggcggcggcagcgggtcctacgaggagggctgtcagagcctcatggagtacgcgtggggtagagcagcggctgccatgctcttctgtggcttcatcatcctggtgatctgtttcatcctctccttcttcgccctctgtggaccccagatgcttgtcttcctgagagtgattggaggtctccttgccttggctgctgtgttccagatcatctccctggtaatttaccccgtgaagtacacccagaccttcacccttcatgccaaccctgctgtcacttacatctataactgggcctacggctttgggtgggcagccacgattatcctgattggctgtgccttcttcttctgctgcctccccaactacgaagatgaccttctgggcaatgccaagcccaggtacttctacacatctgcctaacttgggaatgaatgtgggagaaaatcgctgctgctgagatggactccagaagaagaaactgtttctccaggcgactttgaacccattttttggcagtgttcatattattaaactagtcaaaaatgctaaaataatttgggagaaaatattttttaagtagtgttatagtttcatgtttatcttttattatgttttgtgaagttgtgtcttttcactaattacctatactatgccaatatttccttatatctatccataacatttatactacatttgtaagagaatatgcacgtgaaacttaacactttataaggtaaaaatgaggtttccaagatttaataatctgatcaagttcttgttatttccaaatagaatggactcggtctgttaagggctaaggagaagaggaagataaggttaaaagttgttaatgaccaaacattctaaaagaaatgcaaaaaaaaagtttattttcaagccttcgaactatttaaggaaagcaaaatcatttcctaaatgcatatcatttgtgagaatttctcattaatatcctgaatcattcattttagctaaggcttcatgttgactcgatatgtcatctaggaaagtactatttcatggtccaaacctgttgccatagttggtaaggctttcctttaagtgtgaaatatttagatgaaattttctcttttaaagttctttatagggttagggtgtgggaaaatgctatattaataaatctgtagtgttttgtgtttatatgttcagaaccagagtagactggattgaaagatggactgggtctaatttatcatgactgatagatctggttaagttgtgtagtaaagcattaggagggtcattcttgtcacaaaagtgccactaaaacagcctcaggagaataaatgacttgcttttctaaatctcaggtttatctgggctctatcatatagacaggcttctgatagtttgcaactgtaagcagaaacctacatatagttaaaatcctggtctttcttggtaaacagattttaaatgtctgatataaaacatgccacaggagaattcggggatttgagtttctctgaatagcatatatatgatgcatcggataggtcattatgattttttaccatttcgacttacataatgaaaaccaattcattttaaatatcagattattattttgtaagttgtggaaaaagctaattgtagttttcattatgaagttttcccaataaaccaggtattctaaacttgtttccagtttgtagtttttccatttttcaaatctggggaaaggaattaaaaaaaaaatgggtaataagaacatgggatataatgaaaagtggtttttgtttgtttttttgtttgaagttttaagggccttgctcattttaggtgtccaaaaccaatttttgagtggagattaatgaattctaatagtctattccctgaacttttcctcaatgaacaataccctagacacacattaaacaatttctctgcagtgctatcaaccagaggaaaatggactaagagatttctggcaggttcagacacccgggggacatgtgtgcagtgtagctgaagcctcctccttgtgctggggtccccttccattcaggtggtggggtagcagtctctctattttccccttgccctccttcccattttatcatttgttattttttttcccaccataagtcatatgttacttccactatggtgtatgtcattgtgaggatgggtgcagagaggctgggtgggagaacggaaatatatctccctagggctactgttggccagctagtccttggcagtgaatttttctatgcttttcaaaatgcgaggtgaatgtttctcatagagaaatgtaatctgggtgattataccaaaattgaaaagaaaaacccacacaactatgccgtggctggtggagaatttgaagtggtcattaaaaatgttaaaaatcccatcttttaaagtgataccacagctcattcaagaagatactggatatctagagattaagaaacgtggtctcctgttaaacatgaaaatgactccgtttataagcttctctaccacatgcacttgtctttgcatgatttcccatccagccttcttcccctcctcaatcacacaataccttaacggcgcacatttaggaaaaatgcaacctcctgggaccaacgagcctgatataatagaaccatgtcaacctaaagtatttatgacaaagataaactcttattttgcagaaatggtctgcttccttcagccttgttctagtatagagatctgccattccttgttgatccagattcaccaagacagatacctttatgtcataacagaagggaagttccagaggattctggagagtaatgaagaattgggctgagaaaccacctgaaggctaacagtgcattgcatgagatttcccacagtaaagctgaggtgctttttggttcagtaattaaatattgagttcccaccctttaaataagcagttctaggttcctaagcaattatttcactctgtaagtagccagacatgctaagtggcacttactgctgattgtaacaaagaagtaatatatcaaggtctttccatgttcacacaaggtagcttgtgtgtaataacttagcttcaaaaccatagactgcagaactcacaagttcaacagcctttccttttttaaggaaatgaaaacaatggaaaatatagtcatcataacttaattcggtttattttttttttctgtaaactccccctgaaagacattcctattaatacagtaaatgtgaacactgacttgtttttataagcacatctgaaagggcatatttgagtctcatcccaactttggtccttgctatctgtgcaggcttgggcaggtcatctccctgctggtctcaatatcctcacctgtaaaatgattgtaaatgatccccctaccttcaagattctctgattgatagaattttttctttaattaaaaaattttaaatattccttgagttggaagcactgatcaataagtggattgcttagggaggttggaacgaatagattcagtcccaacttcctcttttaaattccctcttcctcactcttcctgcaacacttatttttacagttgagttttaaaaataagtaatatataaaataatttctgtagtgtggtttcagatttaaaaattcctgcagacaggctgggcttgcaaccccatcagtcgatggtcagagccctttgctttttgagaccatttttaggtgagcttggcttgcctggatacagtgtgcagtgcattcttcctgaattttgcaattctggtatctgggtgtattttctaggtgtgtcagggtgagtgtaatccacctagggtgtggaaaaagccaagaaagggaaattaaaagaggttcctatccagtcatgttaatgatcttccacttgtactatcctgtgcttcgttgttaacctcgaaaacatactttgttggctgcaaaaataaacaaagggaaactcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:64065 -> Biological process: GO:0002934 [desmosome organization] evidence: IEA
GeneID:64065 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:64065 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA
GeneID:64065 -> Biological process: GO:0034113 [heterotypic cell-cell adhesion] evidence: IEA
GeneID:64065 -> Biological process: GO:0045862 [positive regulation of proteolysis] evidence: IDA
GeneID:64065 -> Biological process: GO:0097186 [amelogenesis] evidence: IEA
GeneID:64065 -> Biological process: GO:0097202 [activation of cysteine-type endopeptidase activity] evidence: IDA
GeneID:64065 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:64065 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:64065 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:64065 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
GeneID:64065 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA
GeneID:64065 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:64065 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: IEA
GeneID:64065 -> Cellular component: GO:0030054 [cell junction] evidence: IDA
GeneID:64065 -> Cellular component: GO:0030057 [desmosome] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.