LOCUS       NM_001122769            4564 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens lebercilin LCA5 (LCA5), transcript variant 2, mRNA.
ACCESSION   NM_001122769
VERSION     NM_001122769.3
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 4564)
  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 4564)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 4564)
  AUTHORS   Boldt,K., van Reeuwijk,J., Lu,Q., Koutroumpas,K., Nguyen,T.M.,
            Texier,Y., van Beersum,S.E., Horn,N., Willer,J.R., Mans,D.A.,
            Dougherty,G., Lamers,I.J., Coene,K.L., Arts,H.H., Betts,M.J.,
            Beyer,T., Bolat,E., Gloeckner,C.J., Haidari,K., Hetterschijt,L.,
            Iaconis,D., Jenkins,D., Klose,F., Knapp,B., Latour,B.,
            Letteboer,S.J., Marcelis,C.L., Mitic,D., Morleo,M., Oud,M.M.,
            Riemersma,M., Rix,S., Terhal,P.A., Toedt,G., van Dam,T.J., de
            Vrieze,E., Wissinger,Y., Wu,K.M., Apic,G., Beales,P.L.,
            Blacque,O.E., Gibson,T.J., Huynen,M.A., Katsanis,N., Kremer,H.,
            Omran,H., van Wijk,E., Wolfrum,U., Kepes,F., Davis,E.E., Franco,B.,
            Giles,R.H., Ueffing,M., Russell,R.B. and Roepman,R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4564)
  AUTHORS   Chen,X., Sheng,X., Sun,X., Zhang,Y., Jiang,C., Li,H., Ding,S.,
            Liu,Y., Liu,W., Li,Z. and Zhao,C.
  TITLE     Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5
            Mutations: Novel LCA5 Mutations in Cone Dystrophy
  JOURNAL   Sci Rep 6, 24357 (2016)
   PUBMED   27067258
  REMARK    GeneRIF: The authors report novel biallelic LCA5 mutations,
            Ala212Pro and Tyr441Cys, as causing cone dystrophy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4564)
  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
  REMARK    GeneRIF: The LCA5 gene on chromosome 6q14 encodes the ciliary
            protein lebercilin associated with Leber congenital amaurosis type
            5.
REFERENCE   6  (bases 1 to 4564)
  AUTHORS   Ozgul,R.K., Bozkurt,B., Kiratli,H. and Ogus,A.
  TITLE     Exclusion of LCA5 locus in a consanguineous Turkish family with
            macular coloboma-type LCA
  JOURNAL   Eye (Lond) 20 (7), 817-819 (2006)
   PUBMED   16082399
  REMARK    GeneRIF: Macular coloboma-type LCA shows genetic heterogeneity and
            it is not possible to establish a phenotype-genotype correlation
            with LCA5 and macular coloboma.
REFERENCE   7  (bases 1 to 4564)
  AUTHORS   Mohamed,M.D., Topping,N.C., Jafri,H., Raashed,Y., McKibbin,M.A. and
            Inglehearn,C.F.
  TITLE     Progression of phenotype in Leber's congenital amaurosis with a
            mutation at the LCA5 locus
  JOURNAL   Br J Ophthalmol 87 (4), 473-475 (2003)
   PUBMED   12642313
REFERENCE   8  (bases 1 to 4564)
  AUTHORS   Dharmaraj,S., Li,Y., Robitaille,J.M., Silva,E., Zhu,D.,
            Mitchell,T.N., Maltby,L.P., Baffoe-Bonnie,A.B. and Maumenee,I.H.
  TITLE     A novel locus for Leber congenital amaurosis maps to chromosome 6q
  JOURNAL   Am J Hum Genet 66 (1), 319-326 (2000)
   PUBMED   10631161
REFERENCE   9  (bases 1 to 4564)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   10 (bases 1 to 4564)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC050327.1, BX648161.1,
            BE883302.1 and AL832214.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001122769.2.
            
            Summary: This gene encodes a protein that is thought to be involved
            in centrosomal or ciliary functions. Mutations in this gene cause
            Leber congenital amaurosis type V. Alternatively spliced transcript
            variants are described. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX648161.1, SRR1660805.108851.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369846.9/ ENSP00000358861.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                BC050327.1         1-22
            23-395              BX648161.1         5-377
            396-528             BE883302.1         363-495
            529-1961            BC050327.1         684-2116
            1962-2325           AL832214.1         421-784
            2326-3186           BC050327.1         2481-3341
            3187-3711           BX648161.1         3167-3691
            3712-4564           BC050327.1         3867-4719
FEATURES             Location/Qualifiers
     source          1..4564
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     gene            1..4564
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /note="lebercilin LCA5"
                     /db_xref="GeneID:167691"
                     /db_xref="HGNC:HGNC:31923"
                     /db_xref="MIM:611408"
     exon            1..266
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /inference="alignment:Splign:2.1.0"
     exon            267..647
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /inference="alignment:Splign:2.1.0"
     CDS             458..2551
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /note="leber congenital amaurosis 5 protein; epididymis
                     secretory sperm binding protein; LCA5, lebercilin"
                     /codon_start=1
                     /product="lebercilin"
                     /protein_id="NP_001116241.1"
                     /db_xref="CCDS:CCDS4990.1"
                     /db_xref="GeneID:167691"
                     /db_xref="HGNC:HGNC:31923"
                     /db_xref="MIM:611408"
                     /translation="MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPA
                     SVRRKNPKRQTSDGQVHHQAPRKPSPKGLPNRKGVRVGFRSQSLNREPLRKDTDLVTK
                     RILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQL
                     IFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEISEARHLPER
                     DDLAKKLVSAELKLDDTERRIKELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQK
                     EVQRLYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAACQSDFADLCTKGVQ
                     TMEDFKPEEYPLTPETIMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKF
                     VTDEELHVVKQEVEKLEDEWEREELDKKQKEKASLLEREEKPEWETGRYQLGMYPIQN
                     MDKLQGEEEERLKREMLLAKLNEIDRELQDSRNLKYPVLPLLPDFESKLHSPERSPKT
                     YRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSFAKTSER
                     SNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSDP
                     NSVASSKGDIDPLNFLPGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDKPAVK
                     AADSVEDEIEEVALR"
     exon            648..1177
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1315
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1412
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1555
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /inference="alignment:Splign:2.1.0"
     exon            1556..1688
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..4564
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4546..4551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /note="hexamer: AATAAA"
     polyA_site      4564
                     /gene="LCA5"
                     /gene_synonym="C6orf152"
                     /note="major polyA site"
ORIGIN      
        1 agtctaggcc tccgcctccg ttaccctgga gcccaggtta ccgccgctgc cacccaggag
       61 ccccgatcct cgcctctgtc ccatccttgt gttcaaacct cccgcatctc ggcaacctcg
      121 gcacccgccc ggcagcctcc gcaggaacca ggcacccgct ctttggcggt cagacgccga
      181 ggccccagct gggagtttgg tcctaagagg gaaggcaagg aggcgggacg ccgcatcggc
      241 tctgctgaag agcctgcggg ttggagggca aaaaagttta tcttctggat gccaatgtga
      301 attgtggtct acaaatacat tgtggagaaa atagattgca cagaaatgaa tattatcagg
      361 atctgaagac tgtgaaaatg tttttcagta ttgtcatagt ctcctctgga gaaaataatc
      421 tgtgaaatta tgtgaataga gaccattttt caaaacaatg ggggaaagag caggaagtcc
      481 aggtactgat caagaaagaa aggcaggcaa acaccattat tcttacttat ctgattttga
      541 aacgccacag tcttctggcc gatcatcgct ggtcagttct tcacctgcaa gtgttaggag
      601 aaaaaatcct aaaagacaaa cttcagatgg ccaagtacat caccaagccc ctcggaaacc
      661 aagccctaag ggtctaccaa acagaaaggg agtccgagtg ggatttcgct cccagagcct
      721 caatagagag ccacttcgga aagatactga tcttgttaca aaacggattc tgtctgcaag
      781 actgctaaaa atcaatgagt tgcagaatga agtatctgaa ctccaggtca agttagctga
      841 gctgctaaaa gaaaataaat ctttgaaaag gcttcagtac agacaggaga aagccctgaa
      901 taagtttgaa gatgccgaaa atgaaatctc acaacttata tttcgtcata acaatgagat
      961 tacagcactc aaagaacgct taagaaaatc tcaagagaaa gaacgggcaa ctgagaaaag
     1021 ggtaaaagat acagaaagtg aactatttag gacaaaattt tccttacaga aactgaaaga
     1081 gatctctgaa gctagacacc tacctgaacg agatgatttg gcaaagaaac tagtttcagc
     1141 agagttaaag ttagatgaca ccgagagaag aattaaggag ctatcgaaaa accttgaact
     1201 gagtactaac agtttccaac gacagttgct tgctgaaagg aaaagggcat atgaggctca
     1261 tgatgaaaat aaagttcttc aaaaggaggt acagcgacta tatcacaaat taaaggaaaa
     1321 ggagagagaa ctggatataa aaaatatata ttctaatcgt ctgccaaagt cctctccaaa
     1381 taaagagaaa gaacttgcat taagaaaaaa tgctgcatgc cagagtgatt ttgcagacct
     1441 gtgtacaaaa ggagtacaaa ccatggaaga cttcaagcca gaagaatatc ctttaactcc
     1501 agaaacaatt atgtgttacg aaaacaaatg ggaagaacca ggacatctta ctttggactt
     1561 gcaatctcaa aagcaagaca ggcatggaga agcagggatt ctaaacccaa ttatggaaag
     1621 agaagaaaaa tttgttacag atgaagaact ccatgtcgta aaacaggagg ttgaaaagct
     1681 ggaggatgaa tgggaaagag aagaacttga taaaaagcaa aaagaaaagg catctttact
     1741 ggaaagagaa gaaaagccag agtgggaaac tggaaggtac caactaggaa tgtatccaat
     1801 tcagaatatg gataaattgc aaggagagga agaagaaaga ctgaagagag aaatgctact
     1861 tgctaaactg aatgaaattg acagagaact ccaagattct cgaaatctaa aataccctgt
     1921 tttgccattg ttacctgatt ttgaatcaaa actacactcc ccagagagaa gccccaaaac
     1981 atacaggttc tctgaatcct cagagagatt atttaatggg catcatttgc aagacatcag
     2041 tttctcaact ccaaaaggag aaggtcagaa ttcaggaaat gttagaagtc cagcctcccc
     2101 taatgagttc gcatttggta gctacgtgcc ttcgtttgca aaaacatcag agaggtcaaa
     2161 tccatttagt caaaaaagta gttttttgga tttccaaaga aacagtatgg aaaaacttag
     2221 taaagatggt gtagatttaa ttacaagaaa agagaaaaaa gctaatttga tggaacagtt
     2281 atttggtgcc agtggtagca gcaccatttc ctccaaaagc agtgacccaa attctgtggc
     2341 ttccagtaaa ggagacattg accctctaaa ttttctccct gggaataaag gcagcagaga
     2401 tcaagaacat gatgaagatg aaggcttttt cctcagtgaa ggaagaagtt ttaatccaaa
     2461 taggcaccga ttaaaacatg cagacgataa accagcagta aaagcagctg attctgtaga
     2521 agatgaaatt gaagaagtag cactgagatg actgactaga gtatacattt tttctaattg
     2581 taaatattga aatattttaa tacagtattt attataaaca tttagacttt ttaatgctaa
     2641 aatgtcctta ttaaggaatg atttttaata gctaaataca atgcagttaa aaagaagtag
     2701 atcatacata caccacatag atagtttgcc aagaatgaag gaggcttttt tgaatgaaac
     2761 caaaaataaa aatatgtctt gaaaaatgaa atagatttta actcttcatc cagtgctatg
     2821 gcaagtttaa ctgcactgga ggtggtattc cttttctact tttattccta tttatgtatt
     2881 tatttttaat catattctca ctgtgctaaa tacagtcttc ccactaattg ttgaatgaaa
     2941 attaagggtg aaagtctgtg ttgggaagtg tagctccgga tggtggagaa ccagtgcttc
     3001 ttaggagccc ttccctttat ggatagggcc aggggtccct atcttacgtg gcagtcctaa
     3061 gctactcttg agtgatagca gtcacaacat tgggatttcc cattcctctg aaagtaccca
     3121 cagctaaaca ctactcattt cccaatttca gtatttactg aaatcactta cctacaattc
     3181 tgttagaata ttatgttgag ttcggaagac atttctctgt ttgcaaggac agttagttgc
     3241 tctctgtcat agcccgcaga agcttggcta cagtgtaatt cctctccttg ttctcctaca
     3301 ctctttgtat ctcagtgact gggtgtaaga tttcatgcca aatgcaagga atagtggaaa
     3361 tacataccaa ctgcaaagaa tagaaaaact ttatcccaat atattataga aagatcttca
     3421 gttcaattat gtccagagta atataatttg gcaatgttaa tgcttttaag atttgaactt
     3481 gtcctcaaac caaggagaca acaatagtgt aatactattg gacttacagg attagtttta
     3541 aagcaacttt gaatagaagt gtttcagaca taggacttct gccttgttga ctagagtgga
     3601 tagttttctg tttaaatgca ttggtctttt ggctgtttgt aattcacttc agcttataga
     3661 gaagttgatg accttggatc atgctgggta tgattggtct ttaaaaagca gtaatatacc
     3721 accagcccaa ggagaaaaca ttgttaaaat gaagagtggt ggaaatagtg tgttgggaag
     3781 aataaaaaat ttagattggc acttattcta aagtgagctg tttttttcaa gaatttacta
     3841 gcatttgctc gtagtatgat ttctgacgcc agtcatatat actgatgagg ggaaggagtt
     3901 actgtgttat tctgagttct tataaatgca tattattgaa tttcattgca tgactatttg
     3961 tcaagactta cctggttagg tctccaatta aaagatgtac cacctgtcat cttctaaatt
     4021 gtgttccttt catttattgg gaacagaatc tctcaaaagt gctaaactat attaaaaagt
     4081 tttcttaata gatttgtatg tctgatatgt ataaccattt actataatat gttgcaaatc
     4141 attctaatat atgtaaaaca atattatttg taatgcagtt attggtaaaa tattatgtaa
     4201 tgttaatttt gttcctagct gctaattttt ctgccaaaag tattctaatt ttcaggttgt
     4261 tttaaaggct tttaaaactt tttagttaag ttttttattc acgtcattta aattagtttt
     4321 ttgctttttt tctacctgat aatctcttta acaagatgca acaagacaga attattaaaa
     4381 ttaaacctaa agttaagtta cagatttaaa ggcattatga tattaagcat taaaattgga
     4441 gattaaaatg tacaaaacag ggttttcctt atgaacaaac cttacagggt aaattgtttt
     4501 tttttctaaa tgtcattaaa tttatttgta ctcagaactg ttactaataa aaattaaaaa
     4561 tgca
//
