LOCUS       NM_001002896            1490 bp    mRNA    linear   ROD 21-AUG-2024
DEFINITION  Mus musculus beaded filament structural protein 2, phakinin
            (Bfsp2), transcript variant 1, mRNA.
ACCESSION   NM_001002896 XM_356180
VERSION     NM_001002896.3
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 1490)
  AUTHORS   Xiang,J., Pompetti,A.J., Faranda,A.P., Wang,Y., Novo,S.G., Li,D.W.
            and Duncan,M.K.
  TITLE     ATF4 May Be Essential for Adaption of the Ocular Lens to Its
            Avascular Environment
  JOURNAL   Cells 12 (22), 2636 (2023)
   PUBMED   37998373
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1490)
  AUTHORS   Potluri,H.K., Ferreira,C.A., Grudzinski,J., Massey,C.,
            Aluicio-Sarduy,E., Engle,J.W., Kwon,O., Marsh,I.R., Bednarz,B.P.,
            Hernandez,R., Weichert,J.P. and McNeel,D.G.
  TITLE     Antitumor efficacy of 90Y-NM600 targeted radionuclide therapy and
            PD-1 blockade is limited by regulatory T cells in murine prostate
            tumors
  JOURNAL   J Immunother Cancer 10 (8) (2022)
   PUBMED   36002185
REFERENCE   3  (bases 1 to 1490)
  AUTHORS   Li,Y., Liu,X., Xia,C.H., FitzGerald,P.G., Li,R., Wang,J. and
            Gong,X.
  TITLE     CP49 and filensin intermediate filaments are essential for
            formation of cold cataract
  JOURNAL   Mol Vis 26, 603-612 (2020)
   PUBMED   32913386
  REMARK    GeneRIF: CP49 and filensin intermediate filaments are essential for
            formation of cold cataract.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1490)
  AUTHORS   Martynova,E., Zhao,Y., Xie,Q., Zheng,D. and Cvekl,A.
  TITLE     Transcriptomic analysis and novel insights into lens fibre cell
            differentiation regulated by Gata3
  JOURNAL   Open Biol 9 (12), 190220 (2019)
   PUBMED   31847788
REFERENCE   5  (bases 1 to 1490)
  AUTHORS   Zhou,Y., Bennett,T.M. and Shiels,A.
  TITLE     A charged multivesicular body protein (CHMP4B) is required for lens
            growth and differentiation
  JOURNAL   Differentiation 109, 16-27 (2019)
   PUBMED   31404815
REFERENCE   6  (bases 1 to 1490)
  AUTHORS   Sandilands,A., Hutcheson,A.M., Long,H.A., Prescott,A.R.,
            Vrensen,G., Loster,J., Klopp,N., Lutz,R.B., Graw,J., Masaki,S.,
            Dobson,C.M., MacPhee,C.E. and Quinlan,R.A.
  TITLE     Altered aggregation properties of mutant gamma-crystallins cause
            inherited cataract
  JOURNAL   EMBO J 21 (22), 6005-6014 (2002)
   PUBMED   12426373
REFERENCE   7  (bases 1 to 1490)
  AUTHORS   Goudreau,G., Petrou,P., Reneker,L.W., Graw,J., Loster,J. and
            Gruss,P.
  TITLE     Mutually regulated expression of Pax6 and Six3 and its implications
            for the Pax6 haploinsufficient lens phenotype
  JOURNAL   Proc Natl Acad Sci U S A 99 (13), 8719-8724 (2002)
   PUBMED   12072567
REFERENCE   8  (bases 1 to 1490)
  AUTHORS   Binkley,P.A., Hess,J., Casselman,J. and FitzGerald,P.
  TITLE     Unexpected variation in unique features of the lens-specific type I
            cytokeratin CP49
  JOURNAL   Invest Ophthalmol Vis Sci 43 (1), 225-235 (2002)
   PUBMED   11773035
REFERENCE   9  (bases 1 to 1490)
  AUTHORS   Wigle,J.T., Chowdhury,K., Gruss,P. and Oliver,G.
  TITLE     Prox1 function is crucial for mouse lens-fibre elongation
  JOURNAL   Nat Genet 21 (3), 318-322 (1999)
   PUBMED   10080188
REFERENCE   10 (bases 1 to 1490)
  AUTHORS   Hess,J.F., Casselman,J.T. and FitzGerald,P.G.
  TITLE     cDNA analysis of the 49 kDa lens fiber cell cytoskeletal protein: a
            new, lens-specific member of the intermediate filament family?
  JOURNAL   Curr Eye Res 12 (1), 77-88 (1993)
   PUBMED   7679620
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC165256.2.
            
            On Jun 20, 2018 this sequence version replaced NM_001002896.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BC068172.1, AK134810.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849375,
                                           SAMN00849380 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-514               AC165256.2         128380-128893
            515-597             AC165256.2         155484-155566
            598-754             AC165256.2         158667-158823
            755-916             AC165256.2         159918-160079
            917-1048            AC165256.2         175838-175969
            1049-1269           AC165256.2         181851-182071
            1270-1490           AC165256.2         183484-183704
FEATURES             Location/Qualifiers
     source          1..1490
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 55.37 cM"
     gene            1..1490
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /note="beaded filament structural protein 2, phakinin"
                     /db_xref="GeneID:107993"
                     /db_xref="MGI:MGI:1333828"
     exon            1..514
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..1273
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phakinin; 49 kDa cytoskeletal protein; lens fiber cell
                     beaded filament protein CP 49; lens intermediate
                     filament-like light; lens fiber cell beaded filament
                     protein CP 47"
                     /codon_start=1
                     /product="phakinin isoform 1"
                     /protein_id="NP_001002896.1"
                     /db_xref="CCDS:CCDS52903.1"
                     /db_xref="GeneID:107993"
                     /db_xref="MGI:MGI:1333828"
                     /translation="MSKRRVAADLPSGTNSSMPVQRHRVSSLRGTHSPSSLDSPPASR
                     TSAVGSLVRAPGVYVGVAPSGGIGGLGARVTRRALGISSVFLQGLRSSGLANVPAPGP
                     ERDHTTVEDLGGCLVEYMTKVHALEQVSQELETQLRAHLESKAKSSGGWDALRASWAS
                     SYQQVGEAVLENARLLLQMETIQAGADDFKERYENEQPFRKAAEEEVSSLYKVIDEAN
                     LTKTDLEHQIESLKEELGFLSRSYEEDVKVLYKQLAGSELEQADVPMGTGLDDVLETI
                     RVQWERDVEKNRAEAGALLQAKQQTEVVHVSQTQEEKLAAALSVELHDTSRQVQSLQA
                     ETESLRALKRGLENSLHDAQHWHDMELQNLGAVVGRLEAELAEIRSETEQQQQERAHL
                     LACKSQLQKDVASYHALLDREENN"
     exon            515..597
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /inference="alignment:Splign:2.1.0"
     exon            598..754
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /inference="alignment:Splign:2.1.0"
     exon            755..916
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1048
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1269
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1490
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1465..1470
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /note="hexamer: AATAAA"
     polyA_site      1490
                     /gene="Bfsp2"
                     /gene_synonym="CP47; CP49; LIFL-L"
                     /note="major polyA site"
ORIGIN      
        1 aggcaccaca gaggcagaga ggatgagcaa gaggagagtg gcagcggact tgccctcggg
       61 aaccaactcc agcatgcccg tgcagaggca cagggtgtca tccctcaggg gaacacactc
      121 tccatcctcc ctggatagcc ccccagcatc caggaccagt gctgtgggta gcctcgtccg
      181 tgcccctggg gtctatgtag gagtcgcacc cagtggtggc ataggtggtc tcggtgcccg
      241 agtgacccgc cgggccctgg gcatcagcag tgtctttcta cagggcctgc ggagttcagg
      301 ccttgccaac gtgcctgctc cgggcccaga aagggatcac actactgttg aggacctggg
      361 gggctgccta gtggaatata tgaccaaggt gcatgctctg gagcaagtca gccaggaact
      421 ggaaacacaa ctgcgggctc acctggagag caaggccaag agctctggag gctgggatgc
      481 cctccgcgcc tcctgggcca gcagctacca gcaggtggga gaggctgtcc tagaaaacgc
      541 ccggctcctg ctgcagatgg agacgatcca ggccggtgcg gatgacttta aagagagata
      601 tgaaaacgag cagccattca ggaaggcagc ggaagaggaa gtaagttccc tgtacaaagt
      661 catcgatgaa gctaatttga caaagacgga tctggagcat caaatagaaa gcctgaaaga
      721 agaactgggc tttctgtcaa gaagctatga agaggatgtg aaggttctgt acaaacagct
      781 ggcagggtct gagctggagc aagcagatgt ccccatgggc accggtctgg atgatgtcct
      841 tgagacgatc cgagttcagt gggagagaga tgtggaaaag aaccgagcag aagcaggagc
      901 cttgctccaa gctaagcaac agacagaggt ggtccacgta tcccagaccc aagaagaaaa
      961 gctggctgct gccctcagtg tagagttaca cgacacttca cgccaagtcc agagtctcca
     1021 ggctgagacg gaatctttac gggctctgaa acgaggcctg gaaaacagct tgcacgacgc
     1081 ccagcactgg catgacatgg aactgcagaa cctgggtgcc gtggtgggca ggctggaggc
     1141 agagctggca gagatccgct cagagacaga acagcagcag caggagcggg cacacctgct
     1201 ggcgtgcaag agccagctac agaaggatgt ggcatcctac cacgccctgc tggacagaga
     1261 ggagaacaac taatgggaaa accaaaaaac gacttcctct tttcacaaag aaaactctgc
     1321 cttcctcggc agcccaccgg tgacgtctga agaacctcag tggctgctgg actccctagc
     1381 tgactcagac ggagctccct gggggtggag agaattctgc tcccatttct gtagtctgta
     1441 gcttgaacaa ccgaggcctc tctgaataaa tactttgcgt gtggctccca
//
