PERP_MOUSE
ID PERP_MOUSE Reviewed; 193 AA.
AC Q9JK95; Q9JI77;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=p53 apoptosis effector related to PMP-22;
DE AltName: Full=Keratinocyte-associated protein 1;
DE Short=KCP-1;
GN Name=Perp; Synonyms=Krtcap1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-71,
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INDUCTION.
RX PubMed=10733530;
RA Attardi L.D., Reczek E.E., Cosmas C., Demicco E.G., McCurrach M.E.,
RA Lowe S.W., Jacks T.;
RT "PERP, an apoptosis-associated target of p53, is a novel member of the PMP-
RT 22/gas3 family.";
RL Genes Dev. 14:704-718(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Embryo, and Tongue;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J, and FVB/N; TISSUE=Mammary tumor;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE,
RP AND DISRUPTION PHENOTYPE.
RX PubMed=15797384; DOI=10.1016/j.cell.2005.01.008;
RA Ihrie R.A., Marques M.R., Nguyen B.T., Horner J.S., Papazoglu C.,
RA Bronson R.T., Mills A.A., Attardi L.D.;
RT "Perp is a p63-regulated gene essential for epithelial integrity.";
RL Cell 120:843-856(2005).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Heart;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
CC -!- FUNCTION: Component of intercellular desmosome junctions. Plays a role
CC in stratified epithelial integrity and cell-cell adhesion by promoting
CC desmosome assembly. Plays a role as an effector in the TP53-dependent
CC apoptotic pathway. {ECO:0000269|PubMed:15797384}.
CC -!- FUNCTION: Plays a role as an effector in the TP53-dependent apoptotic
CC pathway. {ECO:0000269|PubMed:10733530}.
CC -!- SUBCELLULAR LOCATION: Cell junction, desmosome
CC {ECO:0000269|PubMed:15797384}. Cell membrane
CC {ECO:0000269|PubMed:15797384}; Multi-pass membrane protein
CC {ECO:0000255}. Note=Associated with desmosomes.
CC {ECO:0000269|PubMed:15797384}.
CC -!- TISSUE SPECIFICITY: Expressed in the stratified squamous skin
CC epithelium of the skin and the tongue, but not in simple epithelia (at
CC protein level). Expressed in apoptotic cells.
CC {ECO:0000269|PubMed:10733530, ECO:0000269|PubMed:15797384}.
CC -!- DEVELOPMENTAL STAGE: Expressed in developing skin during and after the
CC stratification process from 9.5 to 15.5 dpc (at protein level).
CC Expressed in ectoderm of the developing branchial arches and limb buds
CC from the 9.5 to 10.5 dpc. Expressed in epithelia of the oral mucosa and
CC skin from the 16.5 to 18.5 dpc. {ECO:0000269|PubMed:15797384}.
CC -!- INDUCTION: Up-regulated by UV irradiation, doxorubicin (DOX) and TP53
CC in embryo fibroblasts. {ECO:0000269|PubMed:10733530}.
CC -!- DISRUPTION PHENOTYPE: Deficient mice exhibit postnatal lethality and
CC defects in stratified epithelia. {ECO:0000269|PubMed:15797384}.
CC -!- SIMILARITY: Belongs to the TMEM47 family. {ECO:0000305}.
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DR EMBL; AF249870; AAF64306.1; -; mRNA.
DR EMBL; AF251009; AAF70261.1; -; Genomic_DNA.
DR EMBL; AK003734; BAB22968.1; -; mRNA.
DR EMBL; AK009184; BAB26126.1; -; mRNA.
DR EMBL; AK009190; BAB26130.1; -; mRNA.
DR EMBL; BC021772; AAH21772.1; -; mRNA.
DR CCDS; CCDS23714.1; -.
DR RefSeq; NP_071315.1; NM_022032.4.
DR AlphaFoldDB; Q9JK95; -.
DR SMR; Q9JK95; -.
DR STRING; 10090.ENSMUSP00000019998; -.
DR PhosphoSitePlus; Q9JK95; -.
DR PaxDb; Q9JK95; -.
DR PRIDE; Q9JK95; -.
DR ProteomicsDB; 288035; -.
DR Antibodypedia; 19785; 227 antibodies from 35 providers.
DR DNASU; 64058; -.
DR Ensembl; ENSMUST00000019998; ENSMUSP00000019998; ENSMUSG00000019851.
DR GeneID; 64058; -.
DR KEGG; mmu:64058; -.
DR UCSC; uc007emz.1; mouse.
DR CTD; 64065; -.
DR MGI; MGI:1929938; Perp.
DR VEuPathDB; HostDB:ENSMUSG00000019851; -.
DR eggNOG; KOG4671; Eukaryota.
DR GeneTree; ENSGT00530000063484; -.
DR HOGENOM; CLU_120054_0_0_1; -.
DR InParanoid; Q9JK95; -.
DR OMA; ASMWEQC; -.
DR OrthoDB; 1307601at2759; -.
DR PhylomeDB; Q9JK95; -.
DR TreeFam; TF312855; -.
DR Reactome; R-MMU-6809371; Formation of the cornified envelope.
DR BioGRID-ORCS; 64058; 0 hits in 74 CRISPR screens.
DR ChiTaRS; Perp; mouse.
DR PRO; PR:Q9JK95; -.
DR Proteomes; UP000000589; Chromosome 10.
DR RNAct; Q9JK95; protein.
DR Bgee; ENSMUSG00000019851; Expressed in substantia propria of cornea and 247 other tissues.
DR Genevisible; Q9JK95; MM.
DR GO; GO:0005911; C:cell-cell junction; IBA:GO_Central.
DR GO; GO:0030057; C:desmosome; IEA:UniProtKB-SubCell.
DR GO; GO:0005794; C:Golgi apparatus; IDA:MGI.
DR GO; GO:0005887; C:integral component of plasma membrane; IDA:MGI.
DR GO; GO:0005739; C:mitochondrion; IDA:MGI.
DR GO; GO:0097202; P:activation of cysteine-type endopeptidase activity; ISO:MGI.
DR GO; GO:0097186; P:amelogenesis; IMP:MGI.
DR GO; GO:0098609; P:cell-cell adhesion; IBA:GO_Central.
DR GO; GO:0002934; P:desmosome organization; IMP:MGI.
DR GO; GO:0034113; P:heterotypic cell-cell adhesion; IMP:MGI.
DR GO; GO:0072332; P:intrinsic apoptotic signaling pathway by p53 class mediator; IDA:MGI.
DR GO; GO:0007219; P:Notch signaling pathway; IDA:MGI.
DR GO; GO:0045862; P:positive regulation of proteolysis; ISO:MGI.
DR InterPro; IPR015664; P53_induced.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR PANTHER; PTHR14399; PTHR14399; 1.
DR Pfam; PF00822; PMP22_Claudin; 1.
PE 1: Evidence at protein level;
KW Apoptosis; Cell adhesion; Cell junction; Cell membrane; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..193
FT /note="p53 apoptosis effector related to PMP-22"
FT /id="PRO_0000226995"
FT TRANSMEM 12..32
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 81..101
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 151..171
FT /note="Helical"
FT /evidence="ECO:0000255"
SQ SEQUENCE 193 AA; 21567 MW; B1DD8A2AAC27A0AB CRC64;
MLRCGLACER CRWILPLLLL SAIAFDIIAL AGRGWLQSSN HIQTSSLWWR CFDEGGGSGS
YDDGCQSLME YAWGRAAAAT LFCGFIILCI CFILSFFALC GPQMLVFLRV IGGLLALAAI
FQIISLVIYP VKYTQTFRLH DNPAVNYIYN WAYGFGWAAT IILIGCSFFF CCLPNYEDDL
LGAAKPRYFY PPA
