LOCUS       NM_027448               4235 bp    mRNA    linear   ROD 03-JUN-2024
DEFINITION  Mus musculus Leber congenital amaurosis 5 (human) (Lca5),
            transcript variant 2, mRNA.
ACCESSION   NM_027448
VERSION     NM_027448.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4235)
  AUTHORS   Uyhazi,K.E., Aravand,P., Bell,B.A., Wei,Z., Leo,L., Serrano,L.W.,
            Pearson,D.J., Shpylchak,I., Pham,J., Vasireddy,V., Bennett,J. and
            Aleman,T.S.
  TITLE     Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
  JOURNAL   Invest Ophthalmol Vis Sci 61 (5), 30 (2020)
   PUBMED   32428231
REFERENCE   2  (bases 1 to 4235)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4235)
  AUTHORS   Song,J.Y., Aravand,P., Nikonov,S., Leo,L., Lyubarsky,A.,
            Bennicelli,J.L., Pan,J., Wei,Z., Shpylchak,I., Herrera,P.,
            Bennett,D.J., Commins,N., Maguire,A.M., Pham,J., den
            Hollander,A.I., Cremers,F.P.M., Koenekoop,R.K., Roepman,R.,
            Nishina,P., Zhou,S., Pan,W., Ying,G.S., Aleman,T.S., de Melo,J.,
            McNamara,I., Sun,J., Mills,J. and Bennett,J.
  TITLE     Amelioration of Neurosensory Structure and Function in Animal and
            Cellular Models of a Congenital Blindness
  JOURNAL   Mol Ther 26 (6), 1581-1593 (2018)
   PUBMED   29673930
REFERENCE   4  (bases 1 to 4235)
  AUTHORS   Karlstetter,M., Sorusch,N., Caramoy,A., Dannhausen,K.,
            Aslanidis,A., Fauser,S., Boesl,M.R., Nagel-Wolfrum,K., Tamm,E.R.,
            Jagle,H., Stoehr,H., Wolfrum,U. and Langmann,T.
  TITLE     Disruption of the retinitis pigmentosa 28 gene Fam161a in mice
            affects photoreceptor ciliary structure and leads to progressive
            retinal degeneration
  JOURNAL   Hum Mol Genet 23 (19), 5197-5210 (2014)
   PUBMED   24833722
REFERENCE   5  (bases 1 to 4235)
  AUTHORS   Boldt,K., Mans,D.A., Won,J., van Reeuwijk,J., Vogt,A., Kinkl,N.,
            Letteboer,S.J., Hicks,W.L., Hurd,R.E., Naggert,J.K., Texier,Y., den
            Hollander,A.I., Koenekoop,R.K., Bennett,J., Cremers,F.P.,
            Gloeckner,C.J., Nishina,P.M., Roepman,R. and Ueffing,M.
  TITLE     Disruption of intraflagellar protein transport in photoreceptor
            cilia causes Leber congenital amaurosis in humans and mice
  JOURNAL   J Clin Invest 121 (6), 2169-2180 (2011)
   PUBMED   21606596
REFERENCE   6  (bases 1 to 4235)
  AUTHORS   Reymond,A., Marigo,V., Yaylaoglu,M.B., Leoni,A., Ucla,C.,
            Scamuffa,N., Caccioppoli,C., Dermitzakis,E.T., Lyle,R., Banfi,S.,
            Eichele,G., Antonarakis,S.E. and Ballabio,A.
  TITLE     Human chromosome 21 gene expression atlas in the mouse
  JOURNAL   Nature 420 (6915), 582-586 (2002)
   PUBMED   12466854
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK039510.1, BC049101.1 and AC146299.5.
            
            On Oct 10, 2009 this sequence version replaced NM_027448.1.
            
            Transcript Variant: This variant (2) represents the longer
            transcript and encodes the longer protein (isoform b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052060.1, SRR17784647.1018154.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164139, SAMN01164141
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-72                AK039510.1         2-73
            73-442              BC049101.1         1-370
            443-443             AC146299.5         82450-82450
            444-3934            BC049101.1         372-3862
            3935-3936           AC146299.5         115444-115445
            3937-4232           BC049101.1         3863-4158
            4233-4235           AC146299.5         115742-115744
FEATURES             Location/Qualifiers
     source          1..4235
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 45.42 cM"
     gene            1..4235
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /note="Leber congenital amaurosis 5 (human)"
                     /db_xref="GeneID:75782"
                     /db_xref="MGI:MGI:1923032"
     exon            1..191
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /inference="alignment:Splign:2.1.0"
     exon            192..560
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /inference="alignment:Splign:2.1.0"
     CDS             362..2476
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /note="isoform b is encoded by transcript variant 2;
                     lebercilin; leber congenital amaurosis 5 protein homolog"
                     /codon_start=1
                     /product="lebercilin isoform b"
                     /protein_id="NP_081724.1"
                     /db_xref="CCDS:CCDS23374.1"
                     /db_xref="GeneID:75782"
                     /db_xref="MGI:MGI:1923032"
                     /translation="MGERARSPDIEQGKKGGKHPYSHYSSDFGSSPQSSGPSSPVNTT
                     PCASTREKNPKRHLSDNQVHHPTVRKVSPKAVPSKKGIRVGFRSQSLNREPLRKDPDI
                     VTKRVLSARLLKINELQNEVSELQVKLAQLLKENKALKSLQYRQEKALNKFEDAENEI
                     SQLIHRHNNEITALKERLRKSQEKERATEKRVKETEGELFRTKFSLQKLKKISEARHL
                     PERDDLAKKLVSAELKLDDTERKIKELSKNLELSTNSFQRQLLAERKRAFEAYDENKV
                     LQKELQRLHHKLKEKEKELDIKNIYANRLPKSSPKKEKEIERKHVSCQSDFTDQCTKG
                     VQTAEDFELEDFPFTAQTVLCYENRWDEPEYLSSYLEYQDLNKHGSEMLSSVLGQEGK
                     YDEDEDPCSAKQEARKPESEWAREELDKVKGKSALLGRAEKLALEAGRFPTENYQAQS
                     VDKFEDEAERLKTEMLLAKLNEINKELQDPQNLGRAPLPLLPNFESKLHSPDRSTRPY
                     SFPESLDRSFNGQHLQDLSFLTPRGEGGSPGPIRSPGQIRSPAPLDEFSFGSYVPSFG
                     KTLGKSNPPSQKSSLLDFQSNSSESPSKDSLDLMSRKEKKATLMEQLFGPSASNTSVS
                     SKSTDPHFPAASRGDMDPLHFLSGDRNSRVREPGDEEEDLFLREGRSFNPNRHRLKHA
                     SNKPTVTAVDSVDEDIEEVTLR"
     exon            561..1090
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1228
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1322
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1465
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /inference="alignment:Splign:2.1.0"
     exon            1466..1595
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..4235
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4214..4219
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /note="hexamer: AATAAA"
     polyA_site      4232
                     /gene="Lca5"
                     /gene_synonym="4930431B11Rik; 5730406O13Rik; ORF64"
                     /note="major polyA site"
ORIGIN      
        1 tgctccgttg cccaggagcc gaagccgccg agccgccgcc cgcagccgtg gtccctacag
       61 tgagtgagtt caaactcccc gcaaccgcag tctgcagcgt ccgggtactc taggtctcgg
      121 accgtagctg tcggtcggac tcggggatcg gccgatgatc caggcaggag caggaggtgc
      181 cagcttggag gcgaatgaag tgtatcttgt gtttactggt gtggactaca gacatattgt
      241 gaagaaaaca aactgcacat aaataaaaat tattgccagg acaccaagac tacgaagaca
      301 ttcttcagta ttttcatgaa tctgtaaaat tatgtgacta gagaggtcat ttttccagac
      361 gatgggggaa agagcccgaa gtccagatat tgaacaagga aaaaaaggag gcaaacaccc
      421 atactctcat tattcgtctg actttgggtc ctcaccacag tcctctggcc cctcatcacc
      481 tgtcaacacg acgccatgtg ccagtactag ggagaagaat cccaaaagac acttgtcaga
      541 caaccaagtg catcacccaa ccgttaggaa agtaagtcct aaggctgtac ccagcaaaaa
      601 gggcatccga gtgggatttc ggtcccaaag cctcaacaga gagccacttc ggaaagatcc
      661 agatatcgta acaaagcggg ttctttctgc cagacttctg aaaatcaacg agctgcagaa
      721 cgaagtgtca gaactacagg tcaagttagc ccagctgctc aaagagaaca aggctttgaa
      781 aagccttcag tatcgtcagg agaaagcgct gaataagttt gaagatgcgg agaacgagat
      841 ctcacaactt atacaccgcc ataacaatga gattactgcg ctcaaagaac gcttacgaaa
      901 atctcaggag aaggagcggg cgacagagaa aagagtgaaa gagacagaag gtgaactatt
      961 taggacgaaa ttttccttac agaaactgaa aaagatctcc gaggccagac acctaccgga
     1021 gcgagacgat ttggccaaga aactggtttc ggcagagtta aaattagatg acacggagag
     1081 aaagattaag gagctatcga agaacctgga gctgagcacg aacagtttcc agcggcagct
     1141 gctcgctgaa aggaaaagag cattcgaggc ttacgatgaa aataaagttc ttcaaaagga
     1201 gctgcagcgg ctccatcaca agctcaagga aaaggagaaa gaattggata taaaaaacat
     1261 ctatgctaat cgcctgccca aatcctctcc aaagaaagag aaagaaatcg aaaggaaaca
     1321 tgtatcctgc cagagtgact ttacagacca gtgtacaaaa ggagtacaga ccgctgaaga
     1381 ctttgagctg gaggactttc ctttcacagc ccagacagtt ctctgctatg aaaacagatg
     1441 ggatgaacca gaatatctct cttcgtacct ggagtaccag gatctcaaca aacatggatc
     1501 agagatgcta agttcagtgt tgggacaaga aggaaagtat gatgaagatg aggacccatg
     1561 ctctgcaaag caggaggcca ggaagcctga gagtgaatgg gcaagagaag aacttgataa
     1621 ggtgaaaggc aagtcagctt tgctagggag agcagagaag ctggcattgg aagctgggag
     1681 attcccaacg gaaaattatc aagctcagtc tgtcgataaa ttcgaagatg aggcagaaag
     1741 actaaagaca gaaatgctcc ttgccaaact gaacgaaatc aacaaagaac tccaagatcc
     1801 tcagaacctc gggcgggccc ctttgccatt gctgcccaac ttcgaatcca agctgcactc
     1861 tccagacaga agtaccagac cttactcgtt ccccgagtcc ttagaccgat cgtttaatgg
     1921 acaacacttg caggacttga gttttttaac tcccagggga gaaggcggga gtccaggacc
     1981 gatccgaagt ccaggacaga tccgaagtcc agcccctcta gatgagtttt catttggtag
     2041 ctatgtgcct tcgtttggaa aaacattagg gaagtcaaat ccacctagcc aaaaaagtag
     2101 ccttttagat ttccaaagca acagttctga aagcccgagt aaagacagtc ttgatttaat
     2161 gtcgaggaaa gagaaaaagg cgactctgat ggagcagctg tttggcccca gcgccagcaa
     2221 caccagtgtc tcctccaaga gcaccgaccc acacttccct gctgccagca gaggtgacat
     2281 ggaccctctt catttcctct ctggggacag aaacagcaga gtccgggagc ctggcgatga
     2341 agaggaagac cttttcctca gggaaggaag aagttttaat ccaaatagac accggttgaa
     2401 gcacgcaagc aataagccaa cagtcacggc cgttgactct gttgatgagg acattgaaga
     2461 ggttaccctc agatgactga ctggagcaca cagagtatat atatattttt caattgtaaa
     2521 tattaaagta ttttaataca gtatttatta taaacattta aactttcaat ggtaaagtag
     2581 ccttaggagg gagtaatttt tagtggctaa atatggcaca attaaacaaa tagtgccgta
     2641 ccataaagcc acattgctaa gaatgctttt ttgttttgaa atgaacccaa aggagagttg
     2701 ttgcgtacta tttttctgtt ttacagctag gtctcaccaa actagcacat tggaagtttc
     2761 acttcactgg aatcttcctc gtttcttttc cctctatttt tgatccaaca tcagtgagcc
     2821 caagtattgt ttttctacta atggctaagt ggaaattgag ggtctgcagt aggattagag
     2881 acctcaggtg gcagacagca gtgggactta ggagctgtgt ccttgtctga ggtgacagag
     2941 ccaagccact cttgaatggt gatggcaata aagttgggac ttccttcctt gtgagaatat
     3001 ccccgggcac tgaagtatac actggacagt tactcctgag gagtaatcac tactcctcag
     3061 ttgcaggcct gcagccactc actgctgttc tgctggccac ttgcgtggat cacggtagag
     3121 cacaggagac acggttgcct tcatggcatc cctccccgtg gctgtaggag gctcgggcgc
     3181 tctgtccttc ctctcctctt ctgtacactc agtattctgg tgaccaggtg gaagattctc
     3241 taccaaatac aggcaggaga agaaatgaca ggccaacaca gaataatttt caactcaatt
     3301 atgtttccgg agtgatatgt ttggaaattt taatacatat ttttaagatt tgaacttgtg
     3361 ctccaactca ggagacagca gtgtgatact cttgggttta caggacagat gctgatgcag
     3421 cctcacaaag aaggttcccg cctggctgag gagatgcaat agtttcctgt tgaaaggcac
     3481 aggtctcctt ccactcagtt caggacagct gcaggggcat ttactgactt ggtctggtct
     3541 gttggagcag tactcaatca gctgaggaga aacactgtat gttacatggg tgactggagc
     3601 agtgtgtcca tttgttcata gtgtgcatct tacgcaaggc atacatactg attgggggaa
     3661 agggttgcca tggtacttga taagaccttc cctggtcggt cctgattcac agccgtattg
     3721 ctgtcatcct cctggattgg gttgttgtca tatttttggt aacagactct tcttaaagtg
     3781 ctaaataata tttaaaactt ttctcaaaag aagattttag gtcttctgtg aataagcatt
     3841 tactatattg caaatcattg taatatatgt aaacatgtta tttgtgacac agttcttgat
     3901 aaagcattat gtaatgttaa ttttgttcat ggctgtaagt tttctaccaa agtattctaa
     3961 ttttaaggtt tttaaattgt ttttttttcc agaaaaattt ttattcatta ttttcattat
     4021 atttatgcct ttttctactt aaaagactat ttaacccaat gaaacaaaga attatcaaaa
     4081 ttaaattaag ttaaaagctt aaaggcatta tgatgtttag gattaaaatt tgatattaaa
     4141 atgtacagaa cttagaaagc aaatcagttt tttctatgtc aagttaaatt tatttgtact
     4201 cagaactctt actaataaaa ggttcaaaca cactg
//
