LOCUS       NM_201439               1859 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens periphilin 1 (PPHLN1), transcript variant 3, mRNA.
ACCESSION   NM_201439
VERSION     NM_201439.2
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 1859)
  AUTHORS   Prigozhin,D.M., Douse,C.H., Farleigh,L.E., Albecka,A.,
            Tchasovnikarova,I.A., Timms,R.T., Oda,S.I., Adolf,F.,
            Freund,S.M.V., Maslen,S., Lehner,P.J. and Modis,Y.
  TITLE     Periphilin self-association underpins epigenetic silencing by the
            HUSH complex
  JOURNAL   Nucleic Acids Res 48 (18), 10313-10328 (2020)
   PUBMED   32976585
  REMARK    GeneRIF: Periphilin self-association underpins epigenetic silencing
            by the HUSH complex.
REFERENCE   2  (bases 1 to 1859)
  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   3  (bases 1 to 1859)
  AUTHORS   Tchasovnikarova,I.A., Timms,R.T., Douse,C.H., Roberts,R.C.,
            Dougan,G., Kingston,R.E., Modis,Y. and Lehner,P.J.
  TITLE     Hyperactivation of HUSH complex function by Charcot-Marie-Tooth
            disease mutation in MORC2
  JOURNAL   Nat Genet 49 (7), 1035-1044 (2017)
   PUBMED   28581500
REFERENCE   4  (bases 1 to 1859)
  AUTHORS   Timms,R.T., Tchasovnikarova,I.A. and Lehner,P.J.
  TITLE     Position-effect variegation revisited: HUSHing up heterochromatin
            in human cells
  JOURNAL   Bioessays 38 (4), 333-343 (2016)
   PUBMED   26853531
  REMARK    GeneRIF: The haploid screen identified HUSH, an epigenetic
            heterochromatin repressor complex composed of three subunits,
            TASOR, MPP8 and Periphilin. (Review)
            Review article
REFERENCE   5  (bases 1 to 1859)
  AUTHORS   Tchasovnikarova,I.A., Timms,R.T., Matheson,N.J., Wals,K.,
            Antrobus,R., Gottgens,B., Dougan,G., Dawson,M.A. and Lehner,P.J.
  TITLE     GENE SILENCING. Epigenetic silencing by the HUSH complex mediates
            position-effect variegation in human cells
  JOURNAL   Science 348 (6242), 1481-1485 (2015)
   PUBMED   26022416
  REMARK    GeneRIF: this study identified the HUSH (human silencing hub)
            complex, comprising three poorly characterized proteins, TASOR,
            MPP8, and periphilin; this complex is absent from Drosophila but is
            conserved from fish to humans.
REFERENCE   6  (bases 1 to 1859)
  AUTHORS   Kurita,M., Suzuki,H., Masai,H., Mizumoto,K., Ogata,E.,
            Nishimoto,I., Aiso,S. and Matsuoka,M.
  TITLE     Overexpression of CR/periphilin downregulates Cdc7 expression and
            induces S-phase arrest
  JOURNAL   Biochem Biophys Res Commun 324 (2), 554-561 (2004)
   PUBMED   15474462
  REMARK    GeneRIF: CR (periphilin) retards S-phase progression by modifying
            expression of Cdc7 and other genes involved in progression of DNA
            replication
REFERENCE   7  (bases 1 to 1859)
  AUTHORS   Goehler,H., Lalowski,M., Stelzl,U., Waelter,S., Stroedicke,M.,
            Worm,U., Droege,A., Lindenberg,K.S., Knoblich,M., Haenig,C.,
            Herbst,M., Suopanki,J., Scherzinger,E., Abraham,C., Bauer,B.,
            Hasenbank,R., Fritzsche,A., Ludewig,A.H., Bussow,K., Coleman,S.H.,
            Gutekunst,C.A., Landwehrmeyer,B.G., Lehrach,H. and Wanker,E.E.
  TITLE     A protein interaction network links GIT1, an enhancer of huntingtin
            aggregation, to Huntington's disease
  JOURNAL   Mol Cell 15 (6), 853-865 (2004)
   PUBMED   15383276
  REMARK    Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad
            [corrected to Bussow, Konrad]]
REFERENCE   8  (bases 1 to 1859)
  AUTHORS   Kazerounian,S. and Aho,S.
  TITLE     Characterization of periphilin, a widespread, highly insoluble
            nuclear protein and potential constituent of the keratinocyte
            cornified envelope
  JOURNAL   J Biol Chem 278 (38), 36707-36717 (2003)
   PUBMED   12853457
  REMARK    GeneRIF: periphilin is potentially involved in epithelial
            differentiation and contributes to epidermal integrity and barrier
            formation
REFERENCE   9  (bases 1 to 1859)
  AUTHORS   Kazerounian,S., Uitto,J. and Aho,S.
  TITLE     Unique role for the periplakin tail in intermediate filament
            association: specific binding to keratin 8 and vimentin
  JOURNAL   Exp Dermatol 11 (5), 428-438 (2002)
   PUBMED   12366696
REFERENCE   10 (bases 1 to 1859)
  AUTHORS   Line,A., Stengrevics,A., Slucka,Z., Li,G., Jankevics,E. and
            Rees,R.C.
  TITLE     Serological identification and expression analysis of gastric
            cancer-associated genes
  JOURNAL   Br J Cancer 86 (11), 1824-1830 (2002)
   PUBMED   12087473
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CF242917.1, AK129910.1,
            AY157850.1, CA444170.1 and AC079601.25.
            
            On May 17, 2019 this sequence version replaced NM_201439.1.
            
            Summary: The protein encoded by this gene is one of the several
            proteins that become sequentially incorporated into the cornified
            cell envelope during the terminal differentiation of keratinocyte
            at the outer layers of epidermis. This protein interacts with
            periplakin, which is known as a precursor of the cornified cell
            envelope. The cellular localization pattern and insolubility of
            this protein suggest that it may play a role in epithelial
            differentiation and contribute to epidermal integrity and barrier
            formation. Multiple alternatively spliced transcript variants
            encoding distinct isoforms have been observed. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (3) has multiple differences in
            the 3' region compared to variant 1. The resulting isoform (3) has
            a distinct and shorter C-terminus, as compared to isoform 1.
            
            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 :: SRR1660807.110993.1,
                                           SRR1660809.173239.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358314.12/ ENSP00000351066.7
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-155               CF242917.1         38-192
            156-1212            AK129910.1         221-1277
            1213-1639           AY157850.1         1274-1700
            1640-1641           CA444170.1         15-16               c
            1642-1859           AC079601.25        44370-44587         c
FEATURES             Location/Qualifiers
     source          1..1859
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..1859
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /note="periphilin 1"
                     /db_xref="GeneID:51535"
                     /db_xref="HGNC:HGNC:19369"
                     /db_xref="MIM:608150"
     exon            1..63
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /inference="alignment:Splign:2.1.0"
     exon            64..155
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1187
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /note="isoform 3 is encoded by transcript variant 3;
                     gastric cancer antigen Ga50; CDC7 expression repressor"
                     /codon_start=1
                     /product="periphilin-1 isoform 3"
                     /protein_id="NP_958847.1"
                     /db_xref="CCDS:CCDS8741.1"
                     /db_xref="GeneID:51535"
                     /db_xref="HGNC:HGNC:19369"
                     /db_xref="MIM:608150"
                     /translation="MWSEGRYEYERIPRERAPPRSHPSDGYNRLVNIVPKKPPLLDRP
                     GEGSYNRYYSHVDYRDYDEGRSFSHDRRSGPPHRGDESGYRWTRDDHSASRQPEYRDM
                     RDGFRRKSFYSSHYARERSPYKRDNTFFRESPVGRKDSPHSRSGSSVSSRSYSPERSK
                     SYSFHQSQHRKSVRPGASYKRQNEGNPERDKERPVQSLKTSRDTSPSSGSAVSSSKVL
                     DKPSRLTEKELAEAASKWAAEKLEKSDESNLPEISEYEAGSTAPLFTDQPEEPESNTT
                     HGIELFEDSQLTTRSKAIASKTKEIEQVYRQDCETFGMVVKMLIEKDPSLEKSIQFAL
                     RQNLHEIGERCVEELKHFIAEYDTSTQDFGEPF"
     exon            156..320
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /inference="alignment:Splign:2.1.0"
     exon            321..382
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /inference="alignment:Splign:2.1.0"
     exon            383..594
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /inference="alignment:Splign:2.1.0"
     exon            595..651
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /inference="alignment:Splign:2.1.0"
     exon            652..731
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /inference="alignment:Splign:2.1.0"
     exon            732..851
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /inference="alignment:Splign:2.1.0"
     exon            852..992
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1859
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1609..1614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /note="hexamer: AATAAA"
     polyA_site      1639
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
                     /note="major polyA site"
     polyA_site      1728
                     /gene="PPHLN1"
                     /gene_synonym="CR; HSPC206; HSPC232"
ORIGIN      
        1 acctgggata acggcggcga gcggacggct gcatttacgg ggtctcccgg agggccagag
       61 tcgtggctta cagaagagac gaaatgtggt ctgagggacg atatgaatat gaaagaattc
      121 cgagagaacg agcacctcct cgaagtcatc ccagtgatgg ctacaataga ctagttaata
      181 ttgtgccaaa gaaaccacca ctgctagaca gacctggtga aggaagctac aatagatatt
      241 acagtcatgt tgattaccga gactatgacg agggccgcag tttttctcat gatcgaagaa
      301 gtggtccacc tcacagagga gatgaatctg gttatagatg gacaagagac gatcattctg
      361 caagcaggca acctgaatac agggacatga gagatggctt tagaagaaaa agtttctact
      421 cttcccatta tgcgagagag cggtctcctt ataaaaggga caatactttt ttcagagaat
      481 cacctgttgg ccgaaaggat tctccacaca gcagatctgg ttccagtgtc agtagcagaa
      541 gctactctcc agaaaggagc aaatcatact ctttccatca gtctcaacat agaaagtccg
      601 tgcgtcctgg tgcctcctac aaacggcaga atgaaggaaa tcctgaaaga gataaagaga
      661 ggcctgtcca gtctttgaaa acatcaagag atacttcacc ctcaagtggt tcagcagttt
      721 cttcatcaaa ggtgttagac aaacccagta ggctaactga aaaggaactt gctgaggctg
      781 caagcaagtg ggctgctgaa aagctagaga aatcagatga aagtaacttg cctgaaattt
      841 ctgagtatga ggcgggatcc acagcaccat tgtttactga ccagccagag gaacctgagt
      901 caaacacaac acatgggata gaattatttg aagatagtca gctaaccact cgctctaaag
      961 caatagcatc aaaaaccaaa gagattgaac aggtttaccg acaagactgt gaaactttcg
     1021 ggatggtggt gaaaatgctg attgaaaaag atccttcatt agaaaagtct atacagtttg
     1081 cattgaggca gaatttacat gaaataggtg agcggtgtgt tgaagaactc aagcatttca
     1141 ttgcagagta tgatacttcc actcaagatt ttggagagcc tttttagatt tttctgctca
     1201 ggctaaaaaa aaaaaaaaac agtttctaaa aatttttttt cctggattgt gtaaatcctt
     1261 aatatatgga atttttgtga tgcagagaaa tactttatga tagttgacaa catttcagta
     1321 ttaaataaac atctaaaata gtctgtttaa aatgtttgat tcaaattttt gtattttttg
     1381 tagagatggg gttcaccatg ttggccaggc tagtctctaa ctcctggcct caagtgatct
     1441 gcctgcctca gcctctcaaa gtgttgagat tacaggcgtg agccaccgct ccctgcccaa
     1501 cacatatacc atctgaaaat gttagaattc tgagttgtga ttttattgac ttgttgcttg
     1561 ctttttctta ggctttgtaa cttgtaatat gttaaagtgt actatcctaa taaactgaat
     1621 actttggtat cttagagaat atttgctttg agagtaattc tcattcaatg ataaaataga
     1681 gcacttaaat ctctgagaga tacctcagaa aaaaatccgt ttttccaagt aatgaactca
     1741 gtgtcttcta ttacaataat cctgaaactc ctgactctct cactgatgta tgagtcttaa
     1801 ataatatcat atacaagact aataaataga agatgcagtt tgaggtggaa ggtgaggga
//
