LOCUS       NM_178349               1138 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens late cornified envelope 1B (LCE1B), mRNA.
ACCESSION   NM_178349
VERSION     NM_178349.2
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 1138)
  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 1138)
  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   3  (bases 1 to 1138)
  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   4  (bases 1 to 1138)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1138)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 1138)
  AUTHORS   Sun,L., Cao,Y., He,N., Han,J., Hai,R., Arlud,S., He,B., Wu,W.,
            Li,L., Su,X., Cui,H., Zhao,W., Chao,B., Liu,D., Sun,Z. and Huang,Y.
  TITLE     Association between LCE gene polymorphisms and psoriasis vulgaris
            among Mongolians from Inner Mongolia
  JOURNAL   Arch Dermatol Res 310 (4), 321-327 (2018)
   PUBMED   29397434
  REMARK    GeneRIF: genetic polymorphism is associated with psoriasis vulgaris
            among Mongolians from Inner Mongolia
REFERENCE   7  (bases 1 to 1138)
  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   8  (bases 1 to 1138)
  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
            BC031811.1.
            
            On May 17, 2019 this sequence version replaced NM_178349.1.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC031811.1, SRR1163658.458195.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360090.4/ ENSP00000353203.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1138              BC031811.1         1-1138
FEATURES             Location/Qualifiers
     source          1..1138
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..1138
                     /gene="LCE1B"
                     /gene_synonym="LEP2; SPRL2A"
                     /note="late cornified envelope 1B"
                     /db_xref="GeneID:353132"
                     /db_xref="HGNC:HGNC:16611"
                     /db_xref="MIM:612604"
     exon            1..1138
                     /gene="LCE1B"
                     /gene_synonym="LEP2; SPRL2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             477..833
                     /gene="LCE1B"
                     /gene_synonym="LEP2; SPRL2A"
                     /note="small proline rich-like (epidermal differentiation
                     complex) 2A; late envelope protein 2; small
                     proline-rich-like epidermal differentiation complex
                     protein 2A"
                     /codon_start=1
                     /product="late cornified envelope protein 1B"
                     /protein_id="NP_848126.1"
                     /db_xref="CCDS:CCDS1027.1"
                     /db_xref="GeneID:353132"
                     /db_xref="HGNC:HGNC:16611"
                     /db_xref="MIM:612604"
                     /translation="MSCQQNQQQCQPPPKCIPKCPPKCLTPRCPPKCPPKCPPVSSCC
                     SVSSGGCCGSSSGGSCGSSSGGCCSSGGGGCCLSHHRRRRSHCHRPQSSGCCSQPSGG
                     SSCCGGGSGQHSGGCC"
     regulatory      1116..1121
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCE1B"
                     /gene_synonym="LEP2; SPRL2A"
                     /note="hexamer: AATAAA"
     polyA_site      1138
                     /gene="LCE1B"
                     /gene_synonym="LEP2; SPRL2A"
                     /note="major polyA site"
ORIGIN      
        1 gttctgaact tctatgtcct tacaacaagg taatctagaa aattcttcca agagagaatg
       61 actgtttccc cttgagaaac aattttattt ccaaacccct ttctagattg ttttcatgat
      121 tcaggtgtgt agttgaagca gaatgtctcc tctacatact acatgcttga ttttgagaat
      181 actttcttaa tatcttttgg cttcggtttt ctaattataa aatagttgaa aatgctttat
      241 gattttataa gtatataaaa agcattaggt tcaaaacaga ggctataagt gtgtttagcc
      301 aactattaga cacaatgaaa cttcccgtga ttaattagct acaactacac taagcagttc
      361 atcaaaatgt agggattaga aatgatgctg aaagggcaag aataggccgg ggtggcctct
      421 acctgggtct aacttgctgt ctgactctct ctcagctcct gaacacccgc accaagatgt
      481 cctgccagca gaaccagcag cagtgccagc cccctcccaa gtgcatcccc aagtgccctc
      541 ccaagtgcct cacccctaga tgccccccaa agtgtccccc taagtgtcct ccagtctctt
      601 cctgctgcag tgtcagctcc ggaggctgct gtggctccag ctctggggga agctgtggct
      661 ccagctctgg gggttgctgc agttctgggg gaggtggctg ctgcctgagc caccacaggc
      721 gccgtaggtc ccactgccac agaccccaga gctctggctg ctgcagccag ccctccgggg
      781 gctccagctg ctgtggagga gggagtggcc agcactctgg aggctgctgc taaagtggat
      841 cctgagccta gaagaacaca aatggccaaa tatttccctt ccgtcttcct tctccttctg
      901 ggcctgccca tgttgttgag aggtcttggt gagggctcaa ctcaagcata gaggattctt
      961 ctgtcttgga gttcagaggc ccaaaacttc tcccccaaag ccaagccatt taatgacctc
     1021 agtttgcgta tgtgtggttg ctctgggaag cccaaagcac agacctatat ccctttgcag
     1081 cttgtctttt tgcatagctc agcctgatgt gaaacaataa aaccagaaat atgcattc
//
