LOCUS       NM_178430                625 bp    mRNA    linear   PRI 27-JUL-2024
DEFINITION  Homo sapiens late cornified envelope 2D (LCE2D), mRNA.
ACCESSION   NM_178430
VERSION     NM_178430.4
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 625)
  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   2  (bases 1 to 625)
  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   3  (bases 1 to 625)
  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   4  (bases 1 to 625)
  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
            AL139247.12, BC130603.1 and AW300079.1.
            
            On May 17, 2019 this sequence version replaced NM_178430.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC130605.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368784.2/ ENSP00000357773.1
            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
            1-31                AL139247.12        62867-62897
            32-574              BC130603.1         1-543
            575-625             AW300079.1         1-51                c
FEATURES             Location/Qualifiers
     source          1..625
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..625
                     /gene="LCE2D"
                     /gene_synonym="LEP12; SPRL1A"
                     /note="late cornified envelope 2D"
                     /db_xref="GeneID:353141"
                     /db_xref="HGNC:HGNC:16518"
                     /db_xref="MIM:612612"
     exon            1..50
                     /gene="LCE2D"
                     /gene_synonym="LEP12; SPRL1A"
                     /inference="alignment:Splign:2.1.0"
     exon            51..625
                     /gene="LCE2D"
                     /gene_synonym="LEP12; SPRL1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..404
                     /gene="LCE2D"
                     /gene_synonym="LEP12; SPRL1A"
                     /note="small proline rich-like (epidermal differentiation
                     complex) 1A; late envelope protein 12; small
                     proline-rich-like epidermal differentiation complex
                     protein 1A"
                     /codon_start=1
                     /product="late cornified envelope protein 2D"
                     /protein_id="NP_848517.1"
                     /db_xref="CCDS:CCDS1018.1"
                     /db_xref="GeneID:353141"
                     /db_xref="HGNC:HGNC:16518"
                     /db_xref="MIM:612612"
                     /translation="MSCQQNQQQCQPPPKCPPKCTPKCPPKCPPKCPPQCPAPCSPAV
                     SSCCGPSSGSCCGPSSGGCCSSGGGGCCLSHHRPRLFHRRRHQSPDCCESEPSGASGC
                     CHSSGGCC"
ORIGIN      
        1 atctgctctg actccccagg gacgtgtctg tgcttttgca tgtgaccagg gttgactaaa
       61 ctcctgccag gatgtcttgc cagcaaaacc agcagcagtg ccagccccct cccaaatgtc
      121 ctcccaagtg taccccaaaa tgtccaccta agtgtccccc caaatgccca ccacagtgcc
      181 cagctccatg ttcccctgca gtctcttcct gctgtggtcc cagctctggg agctgctgtg
      241 gtcccagctc tgggggctgc tgcagctctg ggggtggtgg ctgctgcctg agccaccaca
      301 ggccccgtct cttccaccgg cgccggcacc agagccccga ttgctgtgag agtgaacctt
      361 ctggggcctc tggctgctgc cacagctctg ggggctgctg ctgacctggg ctgcagaaga
      421 gctctggtac tgaatggtca aaaacctgct acagcctgat gcttaactat ttccccttcc
      481 tttcattcca ctcatgggtg gacagggacc acaaagactc atggggcttc cccagaactt
      541 tgtgcttgat ggagcacccc agatggaagc cttctttttc tcctttacct catattgtaa
      601 taaagctctg atttctgact cttta
//
