LOCUS       NM_022121               4198 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens p53 apoptosis effector related to PMP22 (PERP), mRNA.
ACCESSION   NM_022121
VERSION     NM_022121.5
KEYWORDS    RefSeq; MANE Select.
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 4198)
  AUTHORS   Youssefian,L., Khodavaisy,S., Khosravi-Bachehmir,F., Park,J.S.,
            Saeidian,A.H., Mahmoudi,H., Saffarian,Z., Naraghi,Z.S.,
            Kamyab-Hesari,K., Zeinali,S., Vahidnezhad,H. and Uitto,J.
  TITLE     Ichthyosis, psoriasiform dermatitis, and recurrent fungal
            infections in patients with biallelic mutations in PERP
  JOURNAL   J Eur Acad Dermatol Venereol 36 (3), 472-479 (2022)
   PUBMED   34863005
  REMARK    GeneRIF: Ichthyosis, psoriasiform dermatitis, and recurrent fungal
            infections in patients with biallelic mutations in PERP.
            Review article
REFERENCE   2  (bases 1 to 4198)
  AUTHORS   Holmes,B.J., von Eyben,R., Attardi,L.D., Kong,C.S., Le,Q.T. and
            Nathan,C.O.
  TITLE     Pilot study of loss of the p53/p63 target gene PERP at the surgical
            margin as a potential predictor of local relapse in head and neck
            squamous cell carcinoma
  JOURNAL   Head Neck 42 (11), 3188-3196 (2020)
   PUBMED   33034918
  REMARK    GeneRIF: Pilot study of loss of the p53/p63 target gene PERP at the
            surgical margin as a potential predictor of local relapse in head
            and neck squamous cell carcinoma.
REFERENCE   3  (bases 1 to 4198)
  AUTHORS   Wang,M., Liu,J., Zhao,Y., He,R., Xu,X., Guo,X., Li,X., Xu,S.,
            Miao,J., Guo,J., Zhang,H., Gong,J., Zhu,F., Tian,R., Shi,C.,
            Peng,F., Feng,Y., Yu,S., Xie,Y., Jiang,J., Li,M., Wei,W., He,C. and
            Qin,R.
  TITLE     Upregulation of METTL14 mediates the elevation of PERP mRNA N6
            adenosine methylation promoting the growth and metastasis of
            pancreatic cancer
  JOURNAL   Mol Cancer 19 (1), 130 (2020)
   PUBMED   32843065
  REMARK    GeneRIF: Upregulation of METTL14 mediates the elevation of PERP
            mRNA N(6) adenosine methylation promoting the growth and metastasis
            of pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4198)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 4198)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 4198)
  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 4198)
  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 4198)
  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 4198)
  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 4198)
  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 Nov 22, 2018 this sequence version replaced NM_022121.4.
            
            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 :: AK075082.1, SRR1660803.32793.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2158800
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000421351.4/ ENSP00000397157.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                CX784592.1         105-124
            21-795              BC010163.2         1-775
            796-3538            AL023582.1         60191-62933         c
            3539-4198           BU674771.1         18-677              c
FEATURES             Location/Qualifiers
     source          1..4198
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     gene            1..4198
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
                     /note="p53 apoptosis effector related to PMP22"
                     /db_xref="GeneID:64065"
                     /db_xref="HGNC:HGNC:17637"
                     /db_xref="MIM:609301"
     exon            1..293
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..661
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
                     /note="p53-induced protein PIGPC1; 1110017A08Rik;
                     keratinocytes associated protein 1; KCP-1; transmembrane
                     protein THW; keratinocyte-associated protein 1; PERP, TP53
                     apoptosis effector"
                     /codon_start=1
                     /product="p53 apoptosis effector related to PMP-22"
                     /protein_id="NP_071404.2"
                     /db_xref="CCDS:CCDS5188.1"
                     /db_xref="GeneID:64065"
                     /db_xref="HGNC:HGNC:17637"
                     /db_xref="MIM:609301"
                     /translation="MIRCGLACERCRWILPLLLLSAIAFDIIALAGRGWLQSSDHGQT
                     SSLWWKCSQEGGGSGSYEEGCQSLMEYAWGRAAAAMLFCGFIILVICFILSFFALCGP
                     QMLVFLRVIGGLLALAAVFQIISLVIYPVKYTQTFTLHANPAVTYIYNWAYGFGWAAT
                     IILIGCAFFFCCLPNYEDDLLGNAKPRYFYTSA"
     exon            294..434
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
                     /inference="alignment:Splign:2.1.0"
     exon            435..4198
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
                     /inference="alignment:Splign:2.1.0"
     regulatory      768..773
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
                     /note="hexamer: ATTAAA"
     polyA_site      792
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
                     /note="major polyA site"
     regulatory      1898..1903
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
                     /note="hexamer: AATAAA"
     polyA_site      1917
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
                     /note="major polyA site"
     regulatory      4179..4184
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
                     /note="hexamer: AATAAA"
     polyA_site      4198
                     /gene="PERP"
                     /gene_synonym="dJ496H19.1; EKVP7; KCP1; KRTCAP1; OLMS2;
                     PIGPC1; THW"
ORIGIN      
        1 actctctgct gtcgcccgtc ccgcgcgctc ctccgacccg ctccgctccg ctccgctcgg
       61 ccccgcgccg cccgtcaaca tgatccgctg cggcctggcc tgcgagcgct gccgctggat
      121 cctgcccctg ctcctactca gcgccatcgc cttcgacatc atcgcgctgg ccggccgcgg
      181 ctggttgcag tctagcgacc acggccagac gtcctcgctg tggtggaaat gctcccaaga
      241 gggcggcggc agcgggtcct acgaggaggg ctgtcagagc ctcatggagt acgcgtgggg
      301 tagagcagcg gctgccatgc tcttctgtgg cttcatcatc ctggtgatct gtttcatcct
      361 ctccttcttc gccctctgtg gaccccagat gcttgtcttc ctgagagtga ttggaggtct
      421 ccttgccttg gctgctgtgt tccagatcat ctccctggta atttaccccg tgaagtacac
      481 ccagaccttc acccttcatg ccaaccctgc tgtcacttac atctataact gggcctacgg
      541 ctttgggtgg gcagccacga ttatcctgat tggctgtgcc ttcttcttct gctgcctccc
      601 caactacgaa gatgaccttc tgggcaatgc caagcccagg tacttctaca catctgccta
      661 acttgggaat gaatgtggga gaaaatcgct gctgctgaga tggactccag aagaagaaac
      721 tgtttctcca ggcgactttg aacccatttt ttggcagtgt tcatattatt aaactagtca
      781 aaaatgctaa aataatttgg gagaaaatat tttttaagta gtgttatagt ttcatgttta
      841 tcttttatta tgttttgtga agttgtgtct tttcactaat tacctatact atgccaatat
      901 ttccttatat ctatccataa catttatact acatttgtaa gagaatatgc acgtgaaact
      961 taacacttta taaggtaaaa atgaggtttc caagatttaa taatctgatc aagttcttgt
     1021 tatttccaaa tagaatggac tcggtctgtt aagggctaag gagaagagga agataaggtt
     1081 aaaagttgtt aatgaccaaa cattctaaaa gaaatgcaaa aaaaaagttt attttcaagc
     1141 cttcgaacta tttaaggaaa gcaaaatcat ttcctaaatg catatcattt gtgagaattt
     1201 ctcattaata tcctgaatca ttcattttag ctaaggcttc atgttgactc gatatgtcat
     1261 ctaggaaagt actatttcat ggtccaaacc tgttgccata gttggtaagg ctttccttta
     1321 agtgtgaaat atttagatga aattttctct tttaaagttc tttatagggt tagggtgtgg
     1381 gaaaatgcta tattaataaa tctgtagtgt tttgtgttta tatgttcaga accagagtag
     1441 actggattga aagatggact gggtctaatt tatcatgact gatagatctg gttaagttgt
     1501 gtagtaaagc attaggaggg tcattcttgt cacaaaagtg ccactaaaac agcctcagga
     1561 gaataaatga cttgcttttc taaatctcag gtttatctgg gctctatcat atagacaggc
     1621 ttctgatagt ttgcaactgt aagcagaaac ctacatatag ttaaaatcct ggtctttctt
     1681 ggtaaacaga ttttaaatgt ctgatataaa acatgccaca ggagaattcg gggatttgag
     1741 tttctctgaa tagcatatat atgatgcatc ggataggtca ttatgatttt ttaccatttc
     1801 gacttacata atgaaaacca attcatttta aatatcagat tattattttg taagttgtgg
     1861 aaaaagctaa ttgtagtttt cattatgaag ttttcccaat aaaccaggta ttctaaactt
     1921 gtttccagtt tgtagttttt ccatttttca aatctgggga aaggaattaa aaaaaaaatg
     1981 ggtaataaga acatgggata taatgaaaag tggtttttgt ttgttttttt gtttgaagtt
     2041 ttaagggcct tgctcatttt aggtgtccaa aaccaatttt tgagtggaga ttaatgaatt
     2101 ctaatagtct attccctgaa cttttcctca atgaacaata ccctagacac acattaaaca
     2161 atttctctgc agtgctatca accagaggaa aatggactaa gagatttctg gcaggttcag
     2221 acacccgggg gacatgtgtg cagtgtagct gaagcctcct ccttgtgctg gggtcccctt
     2281 ccattcaggt ggtggggtag cagtctctct attttcccct tgccctcctt cccattttat
     2341 catttgttat tttttttccc accataagtc atatgttact tccactatgg tgtatgtcat
     2401 tgtgaggatg ggtgcagaga ggctgggtgg gagaacggaa atatatctcc ctagggctac
     2461 tgttggccag ctagtccttg gcagtgaatt tttctatgct tttcaaaatg cgaggtgaat
     2521 gtttctcata gagaaatgta atctgggtga ttataccaaa attgaaaaga aaaacccaca
     2581 caactatgcc gtggctggtg gagaatttga agtggtcatt aaaaatgtta aaaatcccat
     2641 cttttaaagt gataccacag ctcattcaag aagatactgg atatctagag attaagaaac
     2701 gtggtctcct gttaaacatg aaaatgactc cgtttataag cttctctacc acatgcactt
     2761 gtctttgcat gatttcccat ccagccttct tcccctcctc aatcacacaa taccttaacg
     2821 gcgcacattt aggaaaaatg caacctcctg ggaccaacga gcctgatata atagaaccat
     2881 gtcaacctaa agtatttatg acaaagataa actcttattt tgcagaaatg gtctgcttcc
     2941 ttcagccttg ttctagtata gagatctgcc attccttgtt gatccagatt caccaagaca
     3001 gataccttta tgtcataaca gaagggaagt tccagaggat tctggagagt aatgaagaat
     3061 tgggctgaga aaccacctga aggctaacag tgcattgcat gagatttccc acagtaaagc
     3121 tgaggtgctt tttggttcag taattaaata ttgagttccc accctttaaa taagcagttc
     3181 taggttccta agcaattatt tcactctgta agtagccaga catgctaagt ggcacttact
     3241 gctgattgta acaaagaagt aatatatcaa ggtctttcca tgttcacaca aggtagcttg
     3301 tgtgtaataa cttagcttca aaaccataga ctgcagaact cacaagttca acagcctttc
     3361 cttttttaag gaaatgaaaa caatggaaaa tatagtcatc ataacttaat tcggtttatt
     3421 ttttttttct gtaaactccc cctgaaagac attcctatta atacagtaaa tgtgaacact
     3481 gacttgtttt tataagcaca tctgaaaggg catatttgag tctcatccca actttggtcc
     3541 ttgctatctg tgcaggcttg ggcaggtcat ctccctgctg gtctcaatat cctcacctgt
     3601 aaaatgattg taaatgatcc ccctaccttc aagattctct gattgataga attttttctt
     3661 taattaaaaa attttaaata ttccttgagt tggaagcact gatcaataag tggattgctt
     3721 agggaggttg gaacgaatag attcagtccc aacttcctct tttaaattcc ctcttcctca
     3781 ctcttcctgc aacacttatt tttacagttg agttttaaaa ataagtaata tataaaataa
     3841 tttctgtagt gtggtttcag atttaaaaat tcctgcagac aggctgggct tgcaacccca
     3901 tcagtcgatg gtcagagccc tttgcttttt gagaccattt ttaggtgagc ttggcttgcc
     3961 tggatacagt gtgcagtgca ttcttcctga attttgcaat tctggtatct gggtgtattt
     4021 tctaggtgtg tcagggtgag tgtaatccac ctagggtgtg gaaaaagcca agaaagggaa
     4081 attaaaagag gttcctatcc agtcatgtta atgatcttcc acttgtacta tcctgtgctt
     4141 cgttgttaac ctcgaaaaca tactttgttg gctgcaaaaa taaacaaagg gaaactca
//
