LOCUS       NM_032488                533 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens cornifelin (CNFN), mRNA.
ACCESSION   NM_032488
VERSION     NM_032488.4
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 533)
  AUTHORS   Sommerer,Y., Dobricic,V., Schilling,M., Ohlei,O., Sabet,S.S.,
            Wesse,T., Fuss,J., Franzenburg,S., Franke,A., Parkkinen,L.,
            Lill,C.M. and Bertram,L.
  TITLE     Entorhinal cortex epigenome-wide association study highlights four
            novel loci showing differential methylation in Alzheimer's disease
  JOURNAL   Alzheimers Res Ther 15 (1), 92 (2023)
   PUBMED   37149695
  REMARK    GeneRIF: Entorhinal cortex epigenome-wide association study
            highlights four novel loci showing differential methylation in
            Alzheimer's disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 533)
  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 533)
  AUTHORS   Michibata,H., Chiba,H., Wakimoto,K., Seishima,M., Kawasaki,S.,
            Okubo,K., Mitsui,H., Torii,H. and Imai,Y.
  TITLE     Identification and characterization of a novel component of the
            cornified envelope, cornifelin
  JOURNAL   Biochem Biophys Res Commun 318 (4), 803-813 (2004)
   PUBMED   15147942
REFERENCE   4  (bases 1 to 533)
  AUTHORS   Robinson,N.A., Lapic,S., Welter,J.F. and Eckert,R.L.
  TITLE     S100A11, S100A10, annexin I, desmosomal proteins, small
            proline-rich proteins, plasminogen activator inhibitor-2, and
            involucrin are components of the cornified envelope of cultured
            human epidermal keratinocytes
  JOURNAL   J Biol Chem 272 (18), 12035-12046 (1997)
   PUBMED   9115270
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011497.6, AK312080.1 and AB049591.2.
            
            On Nov 22, 2018 this sequence version replaced NM_032488.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB049591.2, DA761154.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147975, SAMEA2156670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222032.10/ ENSP00000222032.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AC011497.6         109163-109167
            6-399               AK312080.1         1-394
            400-533             AB049591.2         390-523
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..533
                     /gene="CNFN"
                     /gene_synonym="PLAC8L2"
                     /note="cornifelin"
                     /db_xref="GeneID:84518"
                     /db_xref="HGNC:HGNC:30183"
                     /db_xref="MIM:611764"
     exon            1..58
                     /gene="CNFN"
                     /gene_synonym="PLAC8L2"
                     /inference="alignment:Splign:2.1.0"
     exon            59..172
                     /gene="CNFN"
                     /gene_synonym="PLAC8L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..399
                     /gene="CNFN"
                     /gene_synonym="PLAC8L2"
                     /note="cornefied envelope protein cornefilin"
                     /codon_start=1
                     /product="cornifelin"
                     /protein_id="NP_115877.2"
                     /db_xref="CCDS:CCDS12606.1"
                     /db_xref="GeneID:84518"
                     /db_xref="HGNC:HGNC:30183"
                     /db_xref="MIM:611764"
                     /translation="MSYPVTSQPQCATTSCYQTQLSDWHTGLTDCCNDMPVCLCGTFA
                     PLCLACRISDDFGECCCAPYLPGGLHSIRTGMRERYHIQGSVGHDWAALTFCLPCALC
                     QMARELKIRE"
     exon            173..309
                     /gene="CNFN"
                     /gene_synonym="PLAC8L2"
                     /inference="alignment:Splign:2.1.0"
     exon            310..533
                     /gene="CNFN"
                     /gene_synonym="PLAC8L2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      514..519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CNFN"
                     /gene_synonym="PLAC8L2"
                     /note="hexamer: AATAAA"
     polyA_site      533
                     /gene="CNFN"
                     /gene_synonym="PLAC8L2"
                     /note="major polyA site"
ORIGIN      
        1 aagtcagtgc ccgtgtctcc acacgtctgc ctccatcact gccatcgcga tcctgcagct
       61 atgtcctacc ctgtgaccag tcagccccag tgcgccacca ccagctgcta ccagacccag
      121 ctcagtgact ggcacacagg tctcacggac tgctgcaacg acatgcctgt ctgtctgtgc
      181 ggcacttttg ctcctctgtg ccttgcctgc cgcatctccg acgactttgg cgagtgctgc
      241 tgcgcgccct acctgcccgg aggcctgcac tccatccgca ccggcatgcg ggagcgctac
      301 cacatccagg gctccgtcgg gcacgactgg gcggccctca ccttttgtct gccctgcgcc
      361 ctctgccaga tggcgcggga actgaagatc cgagagtaag gaagttccct gtcttccccg
      421 tccttttcca ccagtctcgc ctctggcctt ctctggccac tcctgggagg gactgcctca
      481 ccacccctgt cccgctgcca gaaatacacc cacaataaaa acctgaaaac caa
//
