ID PERP_HUMAN Reviewed; 193 AA. AC Q96FX8; B2RB73; E1P590; Q8IWS3; Q8N1J6; Q8NC16; Q9H1C5; Q9H230; DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot. DT 01-DEC-2001, sequence version 1. DT 11-NOV-2015, entry version 110. DE RecName: Full=p53 apoptosis effector related to PMP-22; DE AltName: Full=Keratinocyte-associated protein 1; DE Short=KCP-1; DE AltName: Full=P53-induced protein PIGPC1; DE AltName: Full=Transmembrane protein THW; GN Name=PERP; Synonyms=KCP1, KRTCAP1, PIGPC1, THW; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RX PubMed=11062687; RA Hildebrandt T., Preiherr J., Tarbe N., Klostermann S., RA van Muijen G.N.P., Weidle U.; RT "Identification of THW, a putative new tumor suppressor gene."; RL Anticancer Res. 20:2801-2809(2000). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANT ARG-143. RC TISSUE=Keratinocyte; RX PubMed=12752121; DOI=10.1046/j.1365-2133.2003.05244.x; RA Bonkobara M., Das A., Takao J., Cruz P.D. Jr., Ariizumi K.; RT "Identification of novel genes for secreted and membrane-anchored RT proteins in human keratinocytes."; RL Br. J. Dermatol. 148:654-664(2003). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT LEU-174. RC TISSUE=Prostatic carcinoma; RA Goltsov A.A., Ren C., Wang J., Yang G., Tahir S., Li L., Timme T.L., RA Thompson T.C.; RT "p53 regulates the expression of a novel four transmembrane protein -- RT PERP/PIGPC1 in mouse and human prostate cancer."; RL Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-174. RC TISSUE=Thymus, and Tongue; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-143. RC TISSUE=Embryo, and Placenta; RX PubMed=16303743; DOI=10.1093/dnares/12.2.117; RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y., RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., RA Isogai T.; RT "Signal sequence and keyword trap in silico for selection of full- RT length human cDNAs encoding secretion or membrane proteins from oligo- RT capped cDNA libraries."; RL DNA Res. 12:117-126(2005). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=14574404; DOI=10.1038/nature02055; RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., RA Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., RA Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S., RA Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., RA Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., RA Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., RA Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., RA Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., RA Frankland J., French L., Garner P., Garnett J., Ghori M.J., RA Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., RA Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., RA Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., RA Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., RA Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., RA Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., RA Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., RA McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., RA Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., RA Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., RA Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., RA Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., RA Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., RA Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., RA Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., RA Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., RA Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., RA Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.; RT "The DNA sequence and analysis of human chromosome 6."; RL Nature 425:805-811(2003). RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [8] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Pancreas; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- FUNCTION: Component of intercellular desmosome junctions. Plays a CC role in stratified epithelial integrity and cell-cell adhesion by CC promoting desmosome assembly. Plays a role as an effector in the CC TP53-dependent apoptotic pathway (By similarity). {ECO:0000250}. CC -!- SUBCELLULAR LOCATION: Cell junction, desmosome. Cell membrane CC {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. CC Note=Associated with desmosomes. {ECO:0000250}. CC -!- TISSUE SPECIFICITY: Expressed in skin, heart, placental, liver, CC pancreas, keratinocytes and dermal fibroblasts. CC {ECO:0000269|PubMed:12752121}. CC -!- SIMILARITY: Belongs to the TMEM47 family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AJ251830; CAC17766.1; -; mRNA. DR EMBL; AY157578; AAO13162.1; -; mRNA. DR EMBL; AF317550; AAG35063.1; -; mRNA. DR EMBL; AK097958; BAC05205.1; -; mRNA. DR EMBL; AK074585; BAC11074.1; -; mRNA. DR EMBL; AK075082; BAC11390.1; -; mRNA. DR EMBL; AK314526; BAG37120.1; -; mRNA. DR EMBL; AL355362; CAI21518.1; -; Genomic_DNA. DR EMBL; AL023582; CAI21518.1; JOINED; Genomic_DNA. DR EMBL; AL023582; CAI21563.1; -; Genomic_DNA. DR EMBL; AL355362; CAI21563.1; JOINED; Genomic_DNA. DR EMBL; CH471051; EAW47920.1; -; Genomic_DNA. DR EMBL; CH471051; EAW47921.1; -; Genomic_DNA. DR EMBL; BC010163; AAH10163.1; -; mRNA. DR CCDS; CCDS5188.1; -. DR RefSeq; NP_071404.2; NM_022121.4. DR UniGene; Hs.201446; -. DR ProteinModelPortal; Q96FX8; -. DR STRING; 9606.ENSP00000397157; -. DR BioMuta; PERP; -. DR DMDM; 74751865; -. DR MaxQB; Q96FX8; -. DR PaxDb; Q96FX8; -. DR PRIDE; Q96FX8; -. DR DNASU; 64065; -. DR Ensembl; ENST00000421351; ENSP00000397157; ENSG00000112378. DR GeneID; 64065; -. DR KEGG; hsa:64065; -. DR UCSC; uc003qht.2; human. DR CTD; 64065; -. DR GeneCards; PERP; -. DR H-InvDB; HIX0006250; -. DR HGNC; HGNC:17637; PERP. DR HPA; HPA022269; -. DR MIM; 609301; gene. DR neXtProt; NX_Q96FX8; -. DR PharmGKB; PA134944221; -. DR eggNOG; KOG4671; Eukaryota. DR eggNOG; ENOG4111P5K; LUCA. DR GeneTree; ENSGT00530000063484; -. DR HOVERGEN; HBG061500; -. DR InParanoid; Q96FX8; -. DR KO; K10136; -. DR OMA; TWAYGFG; -. DR OrthoDB; EOG70CR8P; -. DR PhylomeDB; Q96FX8; -. DR TreeFam; TF312855; -. DR ChiTaRS; PERP; human. DR GeneWiki; PERP; -. DR GenomeRNAi; 64065; -. DR NextBio; 35468039; -. DR PRO; PR:Q96FX8; -. DR Proteomes; UP000005640; Chromosome 6. DR Bgee; Q96FX8; -. DR CleanEx; HS_PERP; -. DR Genevisible; Q96FX8; HS. DR GO; GO:0030054; C:cell junction; IBA:GO_Central. DR GO; GO:0030057; C:desmosome; IEA:UniProtKB-SubCell. DR GO; GO:0005794; C:Golgi apparatus; IEA:Ensembl. DR GO; GO:0005887; C:integral component of plasma membrane; IEA:Ensembl. DR GO; GO:0005739; C:mitochondrion; IEA:Ensembl. DR GO; GO:0097202; P:activation of cysteine-type endopeptidase activity; IDA:BHF-UCL. DR GO; GO:0097186; P:amelogenesis; IEA:Ensembl. DR GO; GO:0098609; P:cell-cell adhesion; IBA:GO_Central. DR GO; GO:0002934; P:desmosome organization; IBA:GO_Central. DR GO; GO:0034113; P:heterotypic cell-cell adhesion; IEA:Ensembl. DR GO; GO:0072332; P:intrinsic apoptotic signaling pathway by p53 class mediator; IEA:Ensembl. DR GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl. DR GO; GO:0045862; P:positive regulation of proteolysis; IDA:BHF-UCL. DR InterPro; IPR015664; P53_induced. DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin. DR PANTHER; PTHR14399; PTHR14399; 1. DR Pfam; PF00822; PMP22_Claudin; 1. PE 2: Evidence at transcript level; KW Apoptosis; Cell adhesion; Cell junction; Cell membrane; KW Complete proteome; Membrane; Polymorphism; Reference proteome; KW Transmembrane; Transmembrane helix. FT CHAIN 1 193 p53 apoptosis effector related to PMP-22. FT /FTId=PRO_0000226994. FT TRANSMEM 12 32 Helical. {ECO:0000255}. FT TRANSMEM 79 99 Helical. {ECO:0000255}. FT TRANSMEM 110 130 Helical. {ECO:0000255}. FT TRANSMEM 151 171 Helical. {ECO:0000255}. FT VARIANT 143 143 P -> R (in dbSNP:rs648802). FT {ECO:0000269|PubMed:12752121, FT ECO:0000269|PubMed:16303743}. FT /FTId=VAR_052341. FT VARIANT 174 174 P -> L (in dbSNP:rs75183345). FT {ECO:0000269|PubMed:14702039, FT ECO:0000269|Ref.3}. FT /FTId=VAR_070891. FT CONFLICT 4 7 Missing (in Ref. 4; BAC05205). FT {ECO:0000305}. FT CONFLICT 178 178 D -> E (in Ref. 5; BAC11390). FT {ECO:0000305}. FT CONFLICT 193 193 A -> G (in Ref. 2; AAO13162). FT {ECO:0000305}. SQ SEQUENCE 193 AA; 21386 MW; 69654E35C53B3FCE CRC64; MIRCGLACER CRWILPLLLL SAIAFDIIAL AGRGWLQSSD HGQTSSLWWK CSQEGGGSGS YEEGCQSLME YAWGRAAAAM LFCGFIILVI CFILSFFALC GPQMLVFLRV IGGLLALAAV FQIISLVIYP VKYTQTFTLH ANPAVTYIYN WAYGFGWAAT IILIGCAFFF CCLPNYEDDL LGNAKPRYFY TSA //