LOCUS       NM_001413661            4745 bp    mRNA    linear   ROD 14-JUN-2024
DEFINITION  Mus musculus photoreceptor cilium actin regulator (Pcare),
            transcript variant 2, mRNA.
ACCESSION   NM_001413661
VERSION     NM_001413661.1
KEYWORDS    RefSeq.
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 4745)
  AUTHORS   Corral-Serrano,J.C., Lamers,I.J.C., van Reeuwijk,J., Duijkers,L.,
            Hoogendoorn,A.D.M., Yildirim,A., Argyrou,N., Ruigrok,R.A.A.,
            Letteboer,S.J.F., Butcher,R., van Essen,M.D., Sakami,S., van
            Beersum,S.E.C., Palczewski,K., Cheetham,M.E., Liu,Q., Boldt,K.,
            Wolfrum,U., Ueffing,M., Garanto,A., Roepman,R. and Collin,R.W.J.
  TITLE     PCARE and WASF3 regulate ciliary F-actin assembly that is required
            for the initiation of photoreceptor outer segment disk formation
  JOURNAL   Proc Natl Acad Sci U S A 117 (18), 9922-9931 (2020)
   PUBMED   32312818
  REMARK    GeneRIF: our work suggests that PCARE is an actin-associated
            protein that interacts with WASF3 to regulate the actin-driven
            expansion of the ciliary membrane at the initiation of new outer
            segment disk formation.
REFERENCE   2  (bases 1 to 4745)
  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 4745)
  AUTHORS   Kevany,B.M., Zhang,N., Jastrzebska,B. and Palczewski,K.
  TITLE     Animals deficient in C2Orf71, an autosomal recessive retinitis
            pigmentosa-associated locus, develop severe early-onset retinal
            degeneration
  JOURNAL   Hum Mol Genet 24 (9), 2627-2640 (2015)
   PUBMED   25616964
  REMARK    GeneRIF: RNAseq analysis of ocular gene expression in BC(-/-) mice
            revealed clues to the causes of the progressive retinal
            degenerations.
REFERENCE   4  (bases 1 to 4745)
  AUTHORS   Nishimura,D.Y., Baye,L.M., Perveen,R., Searby,C.C.,
            Avila-Fernandez,A., Pereiro,I., Ayuso,C., Valverde,D., Bishop,P.N.,
            Manson,F.D., Urquhart,J., Stone,E.M., Slusarski,D.C., Black,G.C.
            and Sheffield,V.C.
  TITLE     Discovery and functional analysis of a retinitis pigmentosa gene,
            C2ORF71
  JOURNAL   Am J Hum Genet 86 (5), 686-695 (2010)
   PUBMED   20398886
REFERENCE   5  (bases 1 to 4745)
  AUTHORS   Collin,R.W., Safieh,C., Littink,K.W., Shalev,S.A., Garzozi,H.J.,
            Rizel,L., Abbasi,A.H., Cremers,F.P., den Hollander,A.I.,
            Klevering,B.J. and Ben-Yosef,T.
  TITLE     Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa
  JOURNAL   Am J Hum Genet 86 (5), 783-788 (2010)
   PUBMED   20398884
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC154569.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR17784649.791681.1,
                                           SRR9219383.91063.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMN01164132
                                           [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3855              AC154569.2         39238-43092
            3856-3939           AC154569.2         46280-46363
            3940-4745           AC154569.2         47418-48223
FEATURES             Location/Qualifiers
     source          1..4745
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="17"
                     /map="17 42.67 cM"
     gene            1..4745
                     /gene="Pcare"
                     /note="photoreceptor cilium actin regulator"
                     /db_xref="GeneID:225004"
                     /db_xref="MGI:MGI:2385061"
     exon            1..3855
                     /gene="Pcare"
                     /inference="alignment:Splign:2.1.0"
     CDS             230..4153
                     /gene="Pcare"
                     /note="isoform 2 is encoded by transcript variant 2;
                     uncharacterized protein C2orf71 homolog"
                     /codon_start=1
                     /product="photoreceptor cilium actin regulator isoform 2"
                     /protein_id="NP_001400590.1"
                     /db_xref="GeneID:225004"
                     /db_xref="MGI:MGI:2385061"
                     /translation="MGCTPSHNVIVNSVAKSGIQFFKKPKAILPGCQWGSPKCPIPLL
                     VQSSTFCDSGGELHLGERLVEETVSSSKKLQAMAEGVRQLPKAMEGLIPESQTFQVNK
                     PQGHRATDISFRTEGSHGTQEVDFSGKESKENTPQETSKGNRESVCHQPDSQDHCRQS
                     ATESKGRVDFPEPLVKAHQHAYAYLHTSLSRYEAIVRLVQQASQTWGLLRPMLNFLLL
                     CFEEAGQLLSEISKDGDVLLQEVRGDLAWPLRKGEPWEQHPDLLQQLLQYTVSKLRAL
                     HGTVAALTGSFLEGSSSCLRSTAGHLEGKLSTKRGIDECLLRALGQLESLTSSHGDAG
                     LLGPPLCSEDSGIGADNESVHSVEKLGKQASWDFAAELGEWKPGTAAQVEARPSGHAW
                     QEGPYWTGSDRPQDCPLSSPRIAKVQPAVQDEARSASTSGAGAEAVTSGPSEAAESLP
                     WDSLGAEIPVRTPLSRSSGLTDAPSLSEEEDCSPEEEDELSSTDLHPEPQKALPSRPR
                     SSPDTRESLFQPYSKELRNPQAQEMILKMKEAISERIKFVPEPSRPQDWTEEEEGGTV
                     VPPRPRSVSGSRGGPERQRRSQSEGCLKSHVEDPTLQELRRVQTDLSRRLEVFYALGA
                     TRQGQSRERCLPSRASVLWPPTNCRVSPSSAISKFKASLTQNFSILPNQDKSIFQKGS
                     PCFDGEQPCQGKAEKLPNAIFCGKKSGRAPRDNERDIRACPTRPSVKTLIETFSPTES
                     LRMPRNCRNLGSSPCLRKWGVPAMPPRFPIYRGLAPLYSKPQISPAAGWRPSAPFPSL
                     PLAEVSESEDISGDVEEDLENLPPPPLEVLMDKSFAALECPECSQPAGSSLEETLLPG
                     LQEASHPKRTWVSPRLKASMSPMDLLPSKGSGSSPRLHSTRSGSTRIVGDSRKLTLDL
                     NSKQTASPSSEAKSRAQIQARAETIAGFSKQHQKAIPWHHTNPTPGQSRTLEPSLARF
                     SRDPHSSEASRKGPERSLPRVRKASPQRAQWASQGDRRLQSLPSSHGPSQPGLPAVLS
                     SPSPPLSPRTLSPPATRKTTSPPCQHPQSNPAPGSPPVRRTETNTPSSASCSSPSVSP
                     SRGSKDSIHSEDSEATTAKASRNTCSIFYPAATSLFEAKSSSSTSHPQMLPEPGGLLR
                     TPTGGWRGSSGQRLRADSQKRTVLNALNPLPFVRRTASDRQRQQGDQLQQSRSDWEFH
                     SCQNRLVHWFDAHVRGKHTGACCHRQNVTGLYSSSSSSSEENPKQELPPWNNSRVPEL
                     QGSSTKRASPLELCVLGHGLQPEARMNRGQDRPQPESQPQHKEIS"
     exon            3856..3939
                     /gene="Pcare"
                     /inference="alignment:Splign:2.1.0"
     exon            3940..4745
                     /gene="Pcare"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4713..4718
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pcare"
                     /note="hexamer: AATAAA"
     polyA_site      4745
                     /gene="Pcare"
                     /note="major polyA site"
ORIGIN      
        1 gggcccctcg gaactgtctg gatactcagt aacagcatca aaacttaggg caacagccat
       61 gtcttcctct tcattgtggc ctgggctcca agtctaggac tttgtactgt ggactcccag
      121 tctagtctca agttgtccag atggaccggt cagagagctt tctgtcacca tttccaagga
      181 ttctccaaag actgtggagg tagaagactg gcagcgacaa gctggaacca tggggtgcac
      241 gccatcacac aacgtcatcg tcaacagcgt tgcgaagagt ggcattcagt tttttaagaa
      301 gccaaaagca attttgccag gatgtcagtg gggcagcccc aaatgcccca tccctttgct
      361 ggttcaaagt tccactttct gtgactctgg tggcgagttg cacctgggag agaggctggt
      421 agaggagaca gtgtcaagtt ccaagaagct gcaggccatg gctgaaggtg ttcgtcagct
      481 cccaaaagct atggaaggtc tgattccaga aagccaaacc ttccaggtga acaaaccaca
      541 aggccacagg gctacggaca tttcattcag gacagaaggc tcccacggga cacaggaagt
      601 agatttctct gggaaagaga gtaaggagaa cactccccag gagacctcca aggggaacag
      661 agagtcagtg tgccatcaac cagacagcca ggaccattgc cgccaatcgg ctactgagtc
      721 aaagggcaga gtggatttcc ctgagcccct ggtaaaggcc caccagcatg cttatgccta
      781 cctgcacacc agcctttcca gatacgaagc cattgtgcgc ctcgtccagc aagccagcca
      841 gacctggggg ctgctgcgac ccatgctcaa cttcctgctg ctgtgcttcg aggaagccgg
      901 ccagcttctg agcgaaatct ctaaagatgg agatgtgctc ctccaggaag ttcgagggga
      961 tctggcgtgg ccactgagga aaggtgagcc ctgggaacaa cacccagacc tcctgcaaca
     1021 gctgctgcag tacacagtca gcaagctgcg ggcgctccac ggcacagtgg ctgccctcac
     1081 cgggagcttc ttggagggct ccagcagctg tctcagatcc actgccggcc acctggaagg
     1141 taagctgagc accaagagag gtatagatga atgtctcctc agggccctgg gacagctaga
     1201 gagcctgacc agcagccacg gtgacgcagg gctgctgggt ccacccttat gctctgagga
     1261 cagtggcatc ggtgctgaca atgagtctgt gcactccgtg gagaagctgg gcaagcaagc
     1321 cagctgggac tttgcagcag aacttggaga atggaagcca gggactgcag cccaagtgga
     1381 ggccaggcct tcagggcacg cctggcagga aggtccatac tggacaggtt cagacagacc
     1441 ccaggactgt ccactgtcga gtcctaggat agcaaaggtt caacccgcag tgcaagatga
     1501 agccaggagc gcgagcactt ccggcgcagg cgcagaagca gtcacctccg ggccttcaga
     1561 ggctgccgaa agccttccgt gggactctct gggggctgag attcctgtgc ggacaccact
     1621 ttctcgaagc tctgggttga cggatgctcc atccctgagt gaagaggaag actgcagccc
     1681 agaggaagaa gatgaactta gcagcaccga cctgcaccct gagccacaga aagccctacc
     1741 ttcaagacca cggtcctcac ctgacacgcg ggaaagcctc tttcagccgt actccaagga
     1801 gcttaggaac ccccaggccc aggaaatgat tctgaagatg aaagaggcca tcagcgaaag
     1861 gatcaagttt gtccccgagc cttccagacc ccaggactgg actgaggagg aggaaggggg
     1921 aacagtggtc cctccaagac ccagatcagt cagtggcagc agggggggcc ctgagagaca
     1981 aaggaggtcg caatcagagg gatgcctgaa gagccacgtg gaagacccca ccctccagga
     2041 actgaggagg gtccagacag acctcagtag gaggctggag gtattttatg ccctgggtgc
     2101 cacacggcag gggcagagcc gggaacgatg tctgccgtcc agggcatcag tgctatggcc
     2161 ccccaccaac tgcagggtga gtcccagtag tgccatcagc aagttcaagg cctctctgac
     2221 ccaaaacttc agcattttgc ccaatcaaga caagagcatc tttcaaaaag gtagtccctg
     2281 ctttgacggt gagcagccct gccaggggaa ggctgaaaag ctgccaaatg ccatcttttg
     2341 tggcaagaag agcggtaggg ctcccaggga caacgaacgg gacatcaggg cctgtcccac
     2401 cagaccatcg gttaagacgc ttattgagac gttcagtcct actgagagcc tgaggatgcc
     2461 gaggaactgt aggaacttgg ggtcaagccc ctgcctcagg aaatgggggg ttcctgccat
     2521 gcctcccaga tttcctattt acagggggct agcccccctg tattctaagc cccagatttc
     2581 tccagcagca ggctggaggc cttctgcacc ctttccctcc cttcctctag ctgaagtgtc
     2641 tgagagtgaa gacattagcg gtgacgtgga ggaggaccta gagaacctcc caccaccacc
     2701 tctggaagtc ctgatggaca aatccttcgc tgctctggag tgtccagaat gtagccagcc
     2761 agcagggagc tccctggaag agaccctatt accaggtctt caagaggcta gccatccaaa
     2821 aagaacatgg gtttccccta ggctgaaagc ctccatgagc cccatggact tgctccccag
     2881 caaaggcagt ggcagctccc cgaggctaca cagcactaga tccgggagca ccaggattgt
     2941 gggcgattcc agaaagttga ccttggacct gaactctaag caaacagcta gcccaagctc
     3001 agaggcaaag agcagggctc agattcaggc ccgagcagag actatagcag gcttctccaa
     3061 gcagcaccag aaggcgattc cctggcacca caccaaccct acacctgggc aaagcaggac
     3121 gttggagccc agcctggcca ggttttcacg agacccacac tcttcagaag cgtccagaaa
     3181 gggtccagag agaagccttc cacgagtcag aaaggcctct ccccaaagag cacagtgggc
     3241 atcccaaggg gacaggaggc tgcagagcct gccctccagt catggaccat cccagccggg
     3301 cctccctgct gtcctcagct cccccagccc tcctctgagc cccaggaccc tgagcccacc
     3361 agccacaagg aaaactactt ccccaccatg ccagcacccg cagtccaacc cagccccagg
     3421 gagccctcct gtccgacgga cagaaacaaa caccccctcc tctgcctcct gttcatcccc
     3481 ctcagtgtct ccatcacggg ggtccaagga ctcaattcac tctgaggaca gtgaggctac
     3541 cacagccaaa gcatccagga acacgtgttc catattctat ccagccgcca cttctctctt
     3601 tgaagctaaa tcttcatcct caacatccca tccacagatg ctgccagaac ctgggggcct
     3661 tttgaggacc ccaacaggag gctggagggg cagctcgggg cagcgactga gggcagactc
     3721 acagaagaga acggtgctga atgccctcaa ccccctgcct tttgtcagaa ggacagcttc
     3781 agaccgccag cgccagcagg gcgaccagct tcagcagtcc cgctcagact gggaattcca
     3841 ttcctgccaa aacaggcttg tccactggtt tgacgcccat gtgcggggta agcacacagg
     3901 agcatgttgt cacaggcaga atgtcacagg actgtacagc agcagcagca gcagcagtga
     3961 ggagaacccc aagcaagaac tcccaccttg gaacaactcc agagtcccag aactgcaggg
     4021 tagtagcacc aagcgggcat ctcctttgga gctctgtgtg ctgggccatg ggctgcagcc
     4081 agaagcccga atgaaccgcg gccaggacag accccagcca gagtcacagc cccagcacaa
     4141 ggaaatatct tgactcgtgg ctagtggggg ttaccctaga acacatgaag tactagtgac
     4201 gtgttcacac tgcaccatgg gtggtagaca aaccaactcg agctgcggtt gacttggaag
     4261 gatcttgaag acacccctac caaagggttt tcaaaatctc aaacagcagc tggattcact
     4321 tacagatcct gctttgcctt gggtttcaat gttaatggaa actttagacc ccacaatgat
     4381 accctttatc tttccgagtg ctggccttaa ttagagggat aatatattca tgcttagagg
     4441 gccatgtgtc ttacaagata accattggtt atcgtgcgtc atttaaacca caacagtgtg
     4501 tgaaatagtg tcctcccgtt ttacagataa gaaacccaaa tgtgtcgggg gagggccccc
     4561 cccccagagt tgtgctgggg tttcagacag atgtgagaat ggagcaaaac cgggtacaga
     4621 tgtggctggc cttagactct gcgttcttca ttatgttcta ttgccttaga ctattccatc
     4681 actgtacctg cctgtggcat aagcataaag agaataaaga gaagcctttt gcatttaagg
     4741 ttaaa
//
