LOCUS       NM_032563                625 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens late cornified envelope 3D (LCE3D), mRNA.
ACCESSION   NM_032563
VERSION     NM_032563.2
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 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   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   3  (bases 1 to 625)
  AUTHORS   Zheng,H.F., Zuo,X.B., Lu,W.S., Li,Y., Cheng,H., Zhu,K.J., Yin,X.Y.,
            Zhang,C., Ren,Y.Q., Wang,W.J., Sun,L.D., Cui,Y., Yang,S.,
            Zhang,F.Y. and Zhang,X.J.
  TITLE     Variants in MHC, LCE and IL12B have epistatic effects on psoriasis
            risk in Chinese population
  JOURNAL   J Dermatol Sci 61 (2), 124-128 (2011)
   PUBMED   21208785
  REMARK    GeneRIF: We identified significant combined effects between MHC and
            LCE, MHC and IL12B on the risk of psoriasis in Chinese population.
REFERENCE   4  (bases 1 to 625)
  AUTHORS   Strange,A., Capon,F., Spencer,C.C., Knight,J., Weale,M.E.,
            Allen,M.H., Barton,A., Band,G., Bellenguez,C., Bergboer,J.G.,
            Blackwell,J.M., Bramon,E., Bumpstead,S.J., Casas,J.P., Cork,M.J.,
            Corvin,A., Deloukas,P., Dilthey,A., Duncanson,A., Edkins,S.,
            Estivill,X., Fitzgerald,O., Freeman,C., Giardina,E., Gray,E.,
            Hofer,A., Huffmeier,U., Hunt,S.E., Irvine,A.D., Jankowski,J.,
            Kirby,B., Langford,C., Lascorz,J., Leman,J., Leslie,S.,
            Mallbris,L., Markus,H.S., Mathew,C.G., McLean,W.H., McManus,R.,
            Mossner,R., Moutsianas,L., Naluai,A.T., Nestle,F.O., Novelli,G.,
            Onoufriadis,A., Palmer,C.N., Perricone,C., Pirinen,M., Plomin,R.,
            Potter,S.C., Pujol,R.M., Rautanen,A., Riveira-Munoz,E., Ryan,A.W.,
            Salmhofer,W., Samuelsson,L., Sawcer,S.J., Schalkwijk,J.,
            Smith,C.H., Stahle,M., Su,Z., Tazi-Ahnini,R., Traupe,H.,
            Viswanathan,A.C., Warren,R.B., Weger,W., Wolk,K., Wood,N.,
            Worthington,J., Young,H.S., Zeeuwen,P.L., Hayday,A., Burden,A.D.,
            Griffiths,C.E., Kere,J., Reis,A., McVean,G., Evans,D.M.,
            Brown,M.A., Barker,J.N., Peltonen,L., Donnelly,P. and Trembath,R.C.
  CONSRTM   Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case
            Control Consortium 2
  TITLE     A genome-wide association study identifies new psoriasis
            susceptibility loci and an interaction between HLA-C and ERAP1
  JOURNAL   Nat Genet 42 (11), 985-990 (2010)
   PUBMED   20953190
REFERENCE   5  (bases 1 to 625)
  AUTHORS   Zhang,X.J., Huang,W., Yang,S., Sun,L.D., Zhang,F.Y., Zhu,Q.X.,
            Zhang,F.R., Zhang,C., Du,W.H., Pu,X.M., Li,H., Xiao,F.L.,
            Wang,Z.X., Cui,Y., Hao,F., Zheng,J., Yang,X.Q., Cheng,H., He,C.D.,
            Liu,X.M., Xu,L.M., Zheng,H.F., Zhang,S.M., Zhang,J.Z., Wang,H.Y.,
            Cheng,Y.L., Ji,B.H., Fang,Q.Y., Li,Y.Z., Zhou,F.S., Han,J.W.,
            Quan,C., Chen,B., Liu,J.L., Lin,D., Fan,L., Zhang,A.P., Liu,S.X.,
            Yang,C.J., Wang,P.G., Zhou,W.M., Lin,G.S., Wu,W.D., Fan,X., Gao,M.,
            Yang,B.Q., Lu,W.S., Zhang,Z., Zhu,K.J., Shen,S.K., Li,M.,
            Zhang,X.Y., Cao,T.T., Ren,W., Zhang,X., He,J., Tang,X.F., Lu,S.,
            Yang,J.Q., Zhang,L., Wang,D.N., Yuan,F., Yin,X.Y., Huang,H.J.,
            Wang,H.F., Lin,X.Y. and Liu,J.J.
  TITLE     Psoriasis genome-wide association study identifies susceptibility
            variants within LCE gene cluster at 1q21
  JOURNAL   Nat Genet 41 (2), 205-210 (2009)
   PUBMED   19169255
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (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   7  (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
  REMARK    GeneRIF: LEP16 is one of a cluster of 16-20 related genes at 1q21
            which includes XP5. Proteins incorporate into the cornified
            envelope of stratified, terminally differentiating epithelia. LEP16
            transcripts detected in heart, skin and esophagus.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356426.11 and AB048288.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032563.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB048288.1, BC101784.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368787.4/ ENSP00000357776.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AL356426.11        30347-30358         c
            13-622              AB048288.1         1-610
            623-625             AL356426.11        29223-29225         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="LCE3D"
                     /gene_synonym="LEP16; SPRL6A; SPRL6B"
                     /note="late cornified envelope 3D"
                     /db_xref="GeneID:84648"
                     /db_xref="HGNC:HGNC:16615"
                     /db_xref="MIM:612616"
     exon            1..48
                     /gene="LCE3D"
                     /gene_synonym="LEP16; SPRL6A; SPRL6B"
                     /inference="alignment:Splign:2.1.0"
     exon            49..625
                     /gene="LCE3D"
                     /gene_synonym="LEP16; SPRL6A; SPRL6B"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..348
                     /gene="LCE3D"
                     /gene_synonym="LEP16; SPRL6A; SPRL6B"
                     /note="small proline rich-like (epidermal differentiation
                     complex) 6A; small proline rich-like (epidermal
                     differentiation complex) 6B; late envelope protein 16;
                     small proline-rich-like epidermal differentiation complex
                     protein 6A; small proline-rich-like epidermal
                     differentiation complex protein 6B"
                     /codon_start=1
                     /product="late cornified envelope protein 3D"
                     /protein_id="NP_115952.1"
                     /db_xref="CCDS:CCDS1014.1"
                     /db_xref="GeneID:84648"
                     /db_xref="HGNC:HGNC:16615"
                     /db_xref="MIM:612616"
                     /translation="MSCQQNQQQCQPPPKCPSPKCPPKSPVQCLPPASSGCAPSSGGC
                     GPSSEGGCFLNHHRRHHRCRRQRPNSCDRGSGQQGGGSGCGHGSGGCC"
     regulatory      600..605
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCE3D"
                     /gene_synonym="LEP16; SPRL6A; SPRL6B"
                     /note="hexamer: AATAAA"
     polyA_site      625
                     /gene="LCE3D"
                     /gene_synonym="LEP16; SPRL6A; SPRL6B"
                     /note="major polyA site"
ORIGIN      
        1 atccaccgtc tcctcaggaa cagccttctc ctgcctcctc tgcacctgga caactcaact
       61 cctgccaaga tgtcctgcca gcagaaccag cagcagtgcc aacccccacc caagtgtccc
      121 tcacccaagt gtcccccaaa gagcccagta cagtgtctgc ctccagcttc ctctggctgt
      181 gccccaagct ctgggggctg tggccctagc tccgagggcg gctgcttcct gaaccaccac
      241 aggcgccacc accgatgccg gcgccagagg cccaactcct gtgacagggg cagtggtcag
      301 caaggcgggg gctctggctg cggccatggc tctggaggct gctgctgacc tggatcctga
      361 tgctgagaca agcgattttg gaggaaacaa gaatcccaag ggcccaggaa aaccccatct
      421 tgatgcatga gttcccagat accctcttct ggctttcaca ggctgagcta ggggttttcc
      481 tgtggaaggt ctgagctctc cccagaaggc acttcctgtc tgatgtccag gatgtcacat
      541 gttcccttac ccctgtacct gtgaaggatt ggcagtgctt gtgcctgacc tcatcaaaaa
      601 ataaagctcc ttgtcctcat tacca
//
