LOCUS       NM_001384304            2222 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens lebercilin LCA5 like (LCA5L), transcript variant 20,
            mRNA.
ACCESSION   NM_001384304
VERSION     NM_001384304.1
KEYWORDS    RefSeq.
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 2222)
  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   2  (bases 1 to 2222)
  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 2222)
  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   4  (bases 1 to 2222)
  AUTHORS   Alves da Silva,A.F., Machado,F.B., Pavarino,E.C.,
            Biselli-Perico,J.M., Zampieri,B.L., da Silva Francisco Junior,R.,
            Mozer Rodrigues,P.T., Terra Machado,D., Santos-Reboucas,C.B., Gomes
            Fernandes,M., Chuva de Sousa Lopes,S.M., Lopes Rios,A.F. and
            Medina-Acosta,E.
  TITLE     Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and
            -Independent Manners
  JOURNAL   PLoS One 11 (4), e0154108 (2016)
   PUBMED   27100087
  REMARK    GeneRIF: RNA-seq evidence of biallelic expression of LCA5L and 10
            neighboring genes in at least one primary human tissue tested
            indicates that the expression of LCA5L is uncoupled from the
            control of the maternally inherited 5mCpG imprints at the WRB
            differentially methylated region (DMR) in disomic controls or
            trisomy (Down syndrome) individuals.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2222)
  AUTHORS   den Hollander,A.I., Koenekoop,R.K., Mohamed,M.D., Arts,H.H.,
            Boldt,K., Towns,K.V., Sedmak,T., Beer,M., Nagel-Wolfrum,K.,
            McKibbin,M., Dharmaraj,S., Lopez,I., Ivings,L., Williams,G.A.,
            Springell,K., Woods,C.G., Jafri,H., Rashid,Y., Strom,T.M., van der
            Zwaag,B., Gosens,I., Kersten,F.F., van Wijk,E., Veltman,J.A.,
            Zonneveld,M.N., van Beersum,S.E., Maumenee,I.H., Wolfrum,U.,
            Cheetham,M.E., Ueffing,M., Cremers,F.P., Inglehearn,C.F. and
            Roepman,R.
  TITLE     Mutations in LCA5, encoding the ciliary protein lebercilin, cause
            Leber congenital amaurosis
  JOURNAL   Nat Genet 39 (7), 889-895 (2007)
   PUBMED   17546029
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF121781.1.
            
            Transcript Variant: This variant (20), as well as variants 21-29,
            encodes isoform e.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG772755.1, SRR14478891.2717703.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                AF121781.1         40562-40615         c
            55-208              AF121781.1         30257-30410         c
            209-289             AF121781.1         23968-24048         c
            290-2222            AF121781.1         16395-18327         c
FEATURES             Location/Qualifiers
     source          1..2222
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.2"
     gene            1..2222
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /note="lebercilin LCA5 like"
                     /db_xref="GeneID:150082"
                     /db_xref="HGNC:HGNC:1255"
     exon            1..54
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            55..208
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            209..289
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            290..2222
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     CDS             358..834
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /note="isoform e is encoded by transcript variant 20;
                     lebercilin-like protein; leber congenital amaurosis 5-like
                     protein; LCA5L, lebercilin like"
                     /codon_start=1
                     /product="lebercilin-like protein isoform e"
                     /protein_id="NP_001371233.1"
                     /db_xref="GeneID:150082"
                     /db_xref="HGNC:HGNC:1255"
                     /translation="MIAQRRDAMAHRILSARLHKIKGLKNELADMHHKLEAILTENQF
                     LKQLQLRHLKAIGKYENSQNNLPQIMAKHQNEVKNLRQLLRKSQEKERTLSRKLRETD
                     SQLLKTKDILQALQKLSEDKNLAEREELTHKLSIITTKMDANDKKIQVCISGAQTV"
     regulatory      2185..2190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /note="hexamer: AATAAA"
     polyA_site      2222
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /note="major polyA site"
ORIGIN      
        1 ggggacgcgc cggcgctgcg gcgttggcgc agtcgtggga acagcgcgga gcaggttttt
       61 taaaatatat tctttcttta aaaagagacc aaaacctgtc aaaaaaatac taccgtggaa
      121 agctcataaa tactacagtg tgaagaaccc tgtgcttatc ttcagtttat catcagacat
      181 cttagggaag tttaataaag aacaccagga gaattgagaa ttaaatgaaa aggtaaatcc
      241 ttttaaagac ctcagaagat ggatctgttt gtttcaatct gcttttgagg ccagaaggaa
      301 atatcagttg aaaaaaagca cacctggaat gcatcactct ttaattctca aatccatatg
      361 attgcccaaa gaagagatgc tatggctcat cgaatactct cagcaaggct tcataaaatt
      421 aaaggactaa aaaatgaatt agctgatatg catcataaat tggaagccat ccttacagaa
      481 aaccaatttt tgaaacaact tcagcttagg catttgaaag ctataggaaa atatgagaat
      541 tcacaaaata atctacctca aattatggct aaacatcaga atgaagtaaa aaatttaagg
      601 caactactta ggaaatccca ggaaaaggaa agaactctat ctaggaaact tagagaaact
      661 gacagccagt tactgaagac taaagatatc ttgcaggcac tgcagaaact ttctgaagac
      721 aaaaaccttg cagaaaggga agaactcact cataaattat ctattatcac aacaaaaatg
      781 gacgcaaatg acaaaaaaat acaggtctgt atttcagggg cccagacagt ttaagattcc
      841 aaagttaata gagagagggt gtgaattaat catggatgcg ccccctctgt aacaaagcat
      901 tactaactgc ttcacttggc gtgctgcact aaataattat gttgtctaat agagggcaca
      961 gaaagggagt ggtttgaagg aaaaacagaa gcagctcaaa ctagaaatgt tcatctgttg
     1021 cagtgcacaa gagttcactc tgtggctgga ctggtttatc tggaaatgac cattctctaa
     1081 gagagcacag ctacagtgct aagggacttt ttccctgtgc tgaaaagatt gcattgtgtt
     1141 acgtgaaacc tctctttgaa gtcaaccctc taccttaaac tgttgattaa aaggctactt
     1201 ccctaaaaac ctactcagtg catccgttca gggcctttgt attctccctc accattttgg
     1261 ccaggaatta ccacacagac atttgtagtt attttcaaaa tagcagcttt tcccagataa
     1321 tgttcctggg tagtagggaa ggaaaaggaa ttaaaataat taaagagatg actggattga
     1381 ttttcctcaa cagcacttgg ttgtcaaaag cctggggatt acattataag ggatgacttg
     1441 ggagaaggca ttgatatcat attaagaatt ctcctgcata tcttacatta gctagtttga
     1501 gtctgtatag acataaacat aaatggaatt aatttaggat ttaattctgt aatatttgat
     1561 gctgaaacac gagtattttc tatgatcttg aagtaagtaa atatcaggtt cgtttcctcc
     1621 acgttttaat ctcagttatt tcttctgttg ttaaaattcc ctattttcca ataaattttt
     1681 ttcacatgaa attaatatgt gatctacaga aaataatgag caacctcaat tttcactctt
     1741 gtataccaaa gtgatattat tgggcctttt aggtaatatt gtattcatct tagcgtatgt
     1801 ctgtcatgta aaagcaaatc tgttttcatg tatgtatcta agttgttcat gtttttatat
     1861 ctatacataa aaccaaaaca aattccataa ctattttctt tgatacaaaa agcacttacc
     1921 aagtatgaga aatttctgtt tggttgtagg catttagtgg aggaaaactg ttttgtggac
     1981 caaaacatgt tatttcttta acattaatgt tttagggagt ggtattttta gtgattcttt
     2041 ccccttgtag ctttccatgt cttccacttt tcctgtttgg gaaagtactg ctgttataat
     2101 ggaggaggtc ctactttatg ttaaaacaaa gaaaagtggt ccttttggta agctttctgt
     2161 caagtccaga tctaacagtt ctccaataaa atagttctca ttccagagag cagatgaata
     2221 ta
//
