LOCUS       NM_001010857             536 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens late cornified envelope like proline rich 1 (LELP1),
            mRNA.
ACCESSION   NM_001010857 XM_086402
VERSION     NM_001010857.3
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 536)
  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 536)
  AUTHORS   Trzeciak,M., Sakowicz-Burkiewicz,M., Wesserling,M., Dobaczewska,D.,
            Glen,J., Nowicki,R. and Pawelczyk,T.
  TITLE     Expression of Cornified Envelope Proteins in Skin and Its
            Relationship with Atopic Dermatitis Phenotype
  JOURNAL   Acta Derm Venereol 97 (1), 36-41 (2017)
   PUBMED   27304082
  REMARK    GeneRIF: mRNA levels of LELP1, SPRR1Av1, and SPRR1Av2 were
            significantly higher in the skin of patients with AD compared with
            the control group.
REFERENCE   3  (bases 1 to 536)
  AUTHORS   Trzeciak,M., Wesserling,M., Bandurski,T., Glen,J., Nowicki,R. and
            Pawelczyk,T.
  TITLE     Association of a Single Nucleotide Polymorphism in a Late Cornified
            Envelope-like Proline-rich 1 Gene (LELP1) with Atopic Dermatitis
  JOURNAL   Acta Derm Venereol 96 (4), 459-463 (2016)
   PUBMED   26608070
  REMARK    GeneRIF: Suggest that rs7534334 SNP, located in the LELP1 region,
            may be a potential genetic marker for the risk and course of atopic
            dermatitis.
REFERENCE   4  (bases 1 to 536)
  AUTHORS   Sharma,M., Mehla,K., Batra,J. and Ghosh,B.
  TITLE     Association of a chromosome 1q21 locus in close proximity to a late
            cornified envelope-like proline-rich 1 (LELP1) gene with total
            serum IgE levels
  JOURNAL   J Hum Genet 52 (4), 378-383 (2007)
   PUBMED   17387579
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB069578.1 and DB086762.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001010857.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DB074010.1, DB086762.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368747.2/ ENSP00000357736.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-533               DB069578.1         1-533
            534-536             DB086762.1         534-536
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..536
                     /gene="LELP1"
                     /note="late cornified envelope like proline rich 1"
                     /db_xref="GeneID:149018"
                     /db_xref="HGNC:HGNC:32046"
                     /db_xref="MIM:611042"
     exon            1..102
                     /gene="LELP1"
                     /inference="alignment:Splign:2.1.0"
     exon            103..536
                     /gene="LELP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..420
                     /gene="LELP1"
                     /note="novel small proline rich protein"
                     /codon_start=1
                     /product="late cornified envelope-like proline-rich
                     protein 1"
                     /protein_id="NP_001010857.1"
                     /db_xref="CCDS:CCDS30869.1"
                     /db_xref="GeneID:149018"
                     /db_xref="HGNC:HGNC:32046"
                     /db_xref="MIM:611042"
                     /translation="MSSDDKSKSNDPKTEPKNCDPKCEQKCESKCQPSCLKKLLQRCF
                     EKCPWEKCPAPPKCLPCPSQSPSSCPPQPCTKPCPPKCPSSCPHACPPPCPPPE"
     regulatory      511..516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LELP1"
                     /note="hexamer: AGTAAA"
     polyA_site      536
                     /gene="LELP1"
                     /note="major polyA site"
ORIGIN      
        1 agatctgggc agaggaacca aagggaaaag ccaccttccc aggcacagcc ataacatcca
       61 cctcactcaa ctgcttgtca agttcaccac caacacagag ggggctcaga taatcaagaa
      121 acaatgtcga gtgatgataa aagtaaatca aatgacccca agactgagcc caagaactgc
      181 gatcccaagt gtgaacaaaa gtgtgagtcc aaatgccagc ccagctgttt aaagaagctg
      241 ctgcaacgct gtttcgaaaa gtgcccatgg gaaaagtgtc cagcaccacc caagtgcctg
      301 ccctgcccct cgcagtctcc ttcatcctgc cctccccagc cctgcaccaa gccctgtcct
      361 cctaaatgcc cttcatcctg cccacatgct tgcccacctc cctgccctcc cccagagtga
      421 ggcactgtgg gcactaccca accccaccac cactgccacc tccaccatgt acaacgctgt
      481 ggggctggag actgaaacca tgaactgaca agtaaacgtg ttcctctgct gtgcaa
//
