LOCUS       NM_152505               2533 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens lebercilin LCA5 like (LCA5L), transcript variant 1,
            mRNA.
ACCESSION   NM_152505
VERSION     NM_152505.4
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 2533)
  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 2533)
  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 2533)
  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 2533)
  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 2533)
  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.
            
            On Jun 15, 2020 this sequence version replaced NM_152505.3.
            
            Transcript Variant: This variant (1), as well as variants 2-7,
            encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.187484.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000288350.8/ ENSP00000288350.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                AF121781.1         40562-40615         c
            55-121              AF121781.1         38972-39038         c
            122-275             AF121781.1         30257-30410         c
            276-356             AF121781.1         23968-24048         c
            357-688             AF121781.1         23009-23340         c
            689-1203            AF121781.1         17813-18327         c
            1204-1341           AF121781.1         15543-15680         c
            1342-1426           AF121781.1         6555-6639           c
            1427-1530           AF121781.1         5101-5204           c
            1531-1648           AF121781.1         4816-4933           c
            1649-2533           AF121781.1         565-1449            c
FEATURES             Location/Qualifiers
     source          1..2533
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.2"
     gene            1..2533
                     /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..121
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            122..275
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            276..356
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            357..688
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     CDS             367..2379
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /note="isoform a is encoded by transcript variant 1;
                     lebercilin-like protein; leber congenital amaurosis 5-like
                     protein; LCA5L, lebercilin like"
                     /codon_start=1
                     /product="lebercilin-like protein isoform a"
                     /protein_id="NP_689718.1"
                     /db_xref="CCDS:CCDS13665.1"
                     /db_xref="GeneID:150082"
                     /db_xref="HGNC:HGNC:1255"
                     /translation="MSLADLTKTNIDEHFFGVALENNRRSAACKRSPGTGDFSRNSNA
                     SNKSVDYSRSQCSCGSLSSQYDYSEDFLCDCSEKAINRNYLKQPVVKEKEKKKYNVSK
                     ISQSKGQKEISVEKKHTWNASLFNSQIHMIAQRRDAMAHRILSARLHKIKGLKNELAD
                     MHHKLEAILTENQFLKQLQLRHLKAIGKYENSQNNLPQIMAKHQNEVKNLRQLLRKSQ
                     EKERTLSRKLRETDSQLLKTKDILQALQKLSEDKNLAEREELTHKLSIITTKMDANDK
                     KIQSLEKQLRLNCRAFSRQLAIETRKTLAAQTATKTLQVEVKHLQQKLKEKDRELEIK
                     NIYSHRILKNLHDTEDYPKVSSTKSVQADRKILPFTSMRHQGTQKSDVPPLTTKGKKA
                     TGNIDHKEKSTEINHEIPHCVNKLPKQEDSKRKYEDLSGEEKHLEVQILLENTGRQKD
                     KKEDQEKKNIFVKEEQELPPKIIEVIHPERESNQEDVLVREKFKRSMQRNGVDDTLGK
                     GTAPYTKGPLRQRRHYSFTEATENLHHGLPASGGPANAGNMRYSHSTGKHLSNREEME
                     LEHSDSGYEPSFGKSSRIKVKDTTFRDKKSSLMEELFGSGYVLKTDQSSPGVAKGSEE
                     PLQSKESHPLPPSQASTSHAFGDSKVTVVNSIKPSSPTEGKRKIII"
     exon            689..1203
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1341
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1426
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..1530
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            1531..1648
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..2533
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2379..2384
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /note="hexamer: AATATA"
     polyA_site      2401
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /note="major polyA site"
     regulatory      2510..2515
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
                     /note="hexamer: ATTAAA"
     polyA_site      2533
                     /gene="LCA5L"
                     /gene_synonym="C21orf13"
ORIGIN      
        1 ggggacgcgc cggcgctgcg gcgttggcgc agtcgtggga acagcgcgga gcagagaagc
       61 accaaaagag gcaaactgag atgcagacaa atgatcatcc gtatgctgat cattttgaat
      121 agttttttaa aatatattct ttctttaaaa agagaccaaa acctgtcaaa aaaatactac
      181 cgtggaaagc tcataaatac tacagtgtga agaaccctgt gcttatcttc agtttatcat
      241 cagacatctt agggaagttt aataaagaac accaggagaa ttgagaatta aatgaaaagg
      301 taaatccttt taaagacctc agaagatgga tctgtttgtt tcaatctgct tttgaggttg
      361 tttgctatgt ctttggctga tctaacaaaa acaaatatag atgagcattt cttcggcgtg
      421 gcattagaaa acaataggag gtctgcagca tgcaagagaa gcccaggcac aggcgatttt
      481 tcacggaaca gtaatgcttc caataagagt gttgattata gcagatctca gtgctcctgt
      541 ggaagtttaa gttctcagta tgattattca gaagactttc tctgtgattg ttcagaaaag
      601 gctattaata gaaattattt aaagcagcct gtggtaaaag aaaaggagaa gaaaaagtat
      661 aatgtttcta aaatctccca atctaaaggc cagaaggaaa tatcagttga aaaaaagcac
      721 acctggaatg catcactctt taattctcaa atccatatga ttgcccaaag aagagatgct
      781 atggctcatc gaatactctc agcaaggctt cataaaatta aaggactaaa aaatgaatta
      841 gctgatatgc atcataaatt ggaagccatc cttacagaaa accaattttt gaaacaactt
      901 cagcttaggc atttgaaagc tataggaaaa tatgagaatt cacaaaataa tctacctcaa
      961 attatggcta aacatcagaa tgaagtaaaa aatttaaggc aactacttag gaaatcccag
     1021 gaaaaggaaa gaactctatc taggaaactt agagaaactg acagccagtt actgaagact
     1081 aaagatatct tgcaggcact gcagaaactt tctgaagaca aaaaccttgc agaaagggaa
     1141 gaactcactc ataaattatc tattatcaca acaaaaatgg acgcaaatga caaaaaaata
     1201 cagagcttgg aaaaacaact gaggttgaac tgcagagcct ttagccggca gctggctatt
     1261 gagactcgga agactttagc agctcagaca gctaccaaga ctctgcaggt ggaagtaaaa
     1321 caccttcaac aaaaacttaa ggaaaaggat cgtgagcttg aaattaaaaa catctatagt
     1381 catcgaatac ttaaaaattt acatgacaca gaggactatc caaaagtttc ttcaacaaaa
     1441 tcagtccaag cagacagaaa aattttgcca ttcacaagta tgagacacca gggaacccaa
     1501 aaatcagatg ttccaccttt gacaactaag ggtaaaaagg caacaggaaa catcgatcat
     1561 aaagaaaaat caactgaaat aaatcatgaa attcctcact gtgtgaataa actaccaaag
     1621 caagaggatt ctaagagaaa atatgaagat ttatcagggg aagagaaaca tttggaagtc
     1681 caaatactgc tggagaatac tggaagacaa aaagacaaaa aagaagacca agaaaagaaa
     1741 aacatttttg tgaaagaaga gcaagaacta ccaccaaaaa taattgaagt tattcatcct
     1801 gaaagagaaa gcaatcaaga agatgttcta gtaagagaaa agtttaaaag aagcatgcag
     1861 agaaatggtg tggatgacac acttggcaaa ggcactgctc cctacacgaa aggccccctc
     1921 agacaaagaa gacattactc attcacagaa gcaactgaaa acctgcatca tgggcttcct
     1981 gcttcagggg ggccagccaa tgccggcaac atgaggtaca gtcatagtac aggcaagcat
     2041 ctcagtaaca gagaggaaat ggagctagag cattctgaca gtgggtatga gccctcattt
     2101 ggtaagtctt ccagaataaa agtgaaggat acaactttca gagataagaa aagcagtctc
     2161 atggaagaac tctttggatc aggctatgtc ttgaaaactg accaatcaag tcctggtgtt
     2221 gcaaaaggct cagaggagcc tttgcaaagt aaggagtcgc atcccctgcc tcccagtcag
     2281 gcctccacca gccatgcttt cggagactct aaagtaactg tggtaaattc tattaagcca
     2341 tcgtcaccta cagaaggaaa aagaaaaata attatttaaa tataatcaat atcctaatgc
     2401 attctggttt gatataatgc tgcttatgtg ccttgcatct tatttttgaa atgtgtgaga
     2461 gagggagtgt atgtatgtgt gtgttttagt acttaattga ctttcgataa ttaaattttt
     2521 gtttgattgc taa
//
