LOCUS       NM_178438                860 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens late cornified envelope 5A (LCE5A), mRNA.
ACCESSION   NM_178438
VERSION     NM_178438.5
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 860)
  AUTHORS   Niehues,H., Rikken,G., Kersten,F.F.J., Eeftens,J.M., van
            Vlijmen-Willems,I.M.J.J., Rodijk-Olthuis,D., Jansen,P.A.M.,
            Hendriks,W.J.A.J., Ederveen,T.H.A., Schalkwijk,J., van den
            Bogaard,E.H. and Zeeuwen,P.L.J.M.
  TITLE     CYSRT1: An Antimicrobial Epidermal Protein that Can Interact with
            Late Cornified Envelope Proteins
  JOURNAL   J Invest Dermatol 143 (8), 1498-1508 (2023)
   PUBMED   36804407
REFERENCE   2  (bases 1 to 860)
  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 860)
  AUTHORS   Medland,S.E., Nyholt,D.R., Painter,J.N., McEvoy,B.P., McRae,A.F.,
            Zhu,G., Gordon,S.D., Ferreira,M.A., Wright,M.J., Henders,A.K.,
            Campbell,M.J., Duffy,D.L., Hansell,N.K., Macgregor,S.,
            Slutske,W.S., Heath,A.C., Montgomery,G.W. and Martin,N.G.
  TITLE     Common variants in the trichohyalin gene are associated with
            straight hair in Europeans
  JOURNAL   Am J Hum Genet 85 (5), 750-755 (2009)
   PUBMED   19896111
REFERENCE   4  (bases 1 to 860)
  AUTHORS   Stemmler,S., Nothnagel,M., Parwez,Q., Petrasch-Parwez,E.,
            Epplen,J.T. and Hoffjan,S.
  TITLE     Variation in genes of the epidermal differentiation complex in
            German atopic dermatitis patients
  JOURNAL   Int J Immunogenet 36 (4), 217-222 (2009)
   PUBMED   19601998
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 860)
  AUTHORS   Jackson,B., Tilli,C.M., Hardman,M.J., Avilion,A.A., MacLeod,M.C.,
            Ashcroft,G.S. and Byrne,C.
  TITLE     Late cornified envelope family in differentiating
            epithelia--response to calcium and ultraviolet irradiation
  JOURNAL   J Invest Dermatol 124 (5), 1062-1070 (2005)
   PUBMED   15854049
  REMARK    GeneRIF: paper describing nomenclature changes and expression in
            range of tissues and in response to UV
REFERENCE   6  (bases 1 to 860)
  AUTHORS   Marshall,D., Hardman,M.J., Nield,K.M. and Byrne,C.
  TITLE     Differentially expressed late constituents of the epidermal
            cornified envelope
  JOURNAL   Proc Natl Acad Sci U S A 98 (23), 13031-13036 (2001)
   PUBMED   11698679
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL135842.15.
            
            On Nov 23, 2018 this sequence version replaced NM_178438.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BI670518.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334269.3/ ENSP00000333952.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                AL135842.15        146930-146970
            42-196              AL135842.15        146971-147125
            197-860             AL135842.15        147641-148304
FEATURES             Location/Qualifiers
     source          1..860
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..860
                     /gene="LCE5A"
                     /gene_synonym="LEP18; SPRL5A"
                     /note="late cornified envelope 5A"
                     /db_xref="GeneID:254910"
                     /db_xref="HGNC:HGNC:16614"
                     /db_xref="MIM:612619"
     exon            1..196
                     /gene="LCE5A"
                     /gene_synonym="LEP18; SPRL5A"
                     /inference="alignment:Splign:2.1.0"
     exon            197..860
                     /gene="LCE5A"
                     /gene_synonym="LEP18; SPRL5A"
                     /inference="alignment:Splign:2.1.0"
     CDS             218..574
                     /gene="LCE5A"
                     /gene_synonym="LEP18; SPRL5A"
                     /note="small proline rich-like (epidermal differentiation
                     complex) 5A; late envelope protein 18; small
                     proline-rich-like epidermal differentiation complex
                     protein 5A"
                     /codon_start=1
                     /product="late cornified envelope protein 5A"
                     /protein_id="NP_848525.1"
                     /db_xref="CCDS:CCDS1011.1"
                     /db_xref="GeneID:254910"
                     /db_xref="HGNC:HGNC:16614"
                     /db_xref="MIM:612619"
                     /translation="MSCQQSQQQCQPPPKCTPKCPPKCTPKCPPKCPPKCPPQCSAPC
                     PPPVSSCCGSSSGGCCSSEGGGCCLSHHRPRQSLRRRPQSSSCCGSGSGQQSGGSSCC
                     HSSGGSGCCHSSGGCC"
     regulatory      840..845
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCE5A"
                     /gene_synonym="LEP18; SPRL5A"
                     /note="hexamer: AATAAA"
     polyA_site      860
                     /gene="LCE5A"
                     /gene_synonym="LEP18; SPRL5A"
                     /note="major polyA site"
ORIGIN      
        1 agtctacctg tctcctgagt gatctgctgc agtgcctgaa ccaggtagag tgcttctcag
       61 gaccaggatg aactcttggt gctggtgttt tgggcagaaa gagcccctgg gtggaggttg
      121 aggccattct tgaagaaaga caaggataaa gaaggatttt ggaggggaag gttcttctgg
      181 aaggggaggg tggaagcttt attcagcttc tacagagatg tcctgccagc agagccagca
      241 gcagtgccag cctcctccca aatgtacccc taaatgccct cccaagtgta ctcctaagtg
      301 tcctcccaag tgtcccccaa aatgccctcc ccagtgttca gccccatgcc cacctccagt
      361 ctcttcctgc tgtggttcca gctctggggg ctgctgcagc tctgagggtg gtggctgctg
      421 cctgagccac cacaggcccc gccagtccct ccgacgccga cctcagagtt ccagctgctg
      481 tggcagtggc agtggccagc agtctggggg ctccagctgc tgccacagct ctgggggctc
      541 tggctgctgc cacagctctg gaggctgctg ctgacctggg ccatgaggag cacggaggag
      601 aaggactggc agatcccagg tgctgaagat gtgtgtcagc ctgaggcttc ttttctctca
      661 tttcccatgg aaggacttcg gaaatgcctt aagttcccct ctttatcctg cccatgttca
      721 ctccattgta gggttgaagt ctagcttgtg atattttctg gcctggcttt ccctctcaga
      781 catagctctt tggagaacta ggtgttgtaa ttcagttatg aagctatttt ctctgtaaca
      841 ataaagcttt ttattcctga
//
