LOCUS       NM_003571               1512 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens beaded filament structural protein 2 (BFSP2), mRNA.
ACCESSION   NM_003571
VERSION     NM_003571.4
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 1512)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1512)
  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 1512)
  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 1512)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 1512)
  AUTHORS   Chaves,J.M., Gupta,R., Srivastava,K. and Srivastava,O.
  TITLE     Human alpha A-crystallin missing N-terminal domain poorly complexes
            with filensin and phakinin
  JOURNAL   Biochem Biophys Res Commun 494 (1-2), 402-408 (2017)
   PUBMED   28935373
  REMARK    GeneRIF: The results suggest that the N-terminal domain of CRYAA is
            required during in vitro complex formation with filensin and
            phakinin.
REFERENCE   6  (bases 1 to 1512)
  AUTHORS   Conley,Y.P., Erturk,D., Keverline,A., Mah,T.S., Keravala,A.,
            Barnes,L.R., Bruchis,A., Hess,J.F., FitzGerald,P.G., Weeks,D.E.,
            Ferrell,R.E. and Gorin,M.B.
  TITLE     A juvenile-onset, progressive cataract locus on chromosome 3q21-q22
            is associated with a missense mutation in the beaded filament
            structural protein-2
  JOURNAL   Am J Hum Genet 66 (4), 1426-1431 (2000)
   PUBMED   10729115
REFERENCE   7  (bases 1 to 1512)
  AUTHORS   Hess,J.F., Casselman,J.T., Kong,A.P. and FitzGerald,P.G.
  TITLE     Primary sequence, secondary structure, gene structure, and assembly
            properties suggests that the lens-specific cytoskeletal protein
            filensin represents a novel class of intermediate filament protein
  JOURNAL   Exp Eye Res 66 (5), 625-644 (1998)
   PUBMED   9628810
REFERENCE   8  (bases 1 to 1512)
  AUTHORS   Hess,J.F., Casselman,J.T. and FitzGerald,P.G.
  TITLE     Gene structure and cDNA sequence identify the beaded filament
            protein CP49 as a highly divergent type I intermediate filament
            protein
  JOURNAL   J Biol Chem 271 (12), 6729-6735 (1996)
   PUBMED   8636093
REFERENCE   9  (bases 1 to 1512)
  AUTHORS   Hess,J.F., Casselman,J.T. and FitzGerald,P.G.
  TITLE     Chromosomal locations of the genes for the beaded filament proteins
            CP 115 and CP 47
  JOURNAL   Curr Eye Res 14 (1), 11-18 (1995)
   PUBMED   7720401
REFERENCE   10 (bases 1 to 1512)
  AUTHORS   Merdes,A., Gounari,F. and Georgatos,S.D.
  TITLE     The 47-kD lens-specific protein phakinin is a tailless intermediate
            filament protein and an assembly partner of filensin
  JOURNAL   J Cell Biol 123 (6 Pt 1), 1507-1516 (1993)
   PUBMED   7504675
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055753.21 and AC022296.34.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_003571.3.
            
            Summary: More than 99% of the vertebrate ocular lens is comprised
            of terminally differentiated lens fiber cells. Two lens-specific
            intermediate filament-like proteins, the protein product of this
            gene (phakinin), and filensin, are expressed only after fiber cell
            differentiation has begun. Both proteins are found in a
            structurally unique cytoskeletal element that is referred to as the
            beaded filament (BF). Mutations in this gene have been associated
            with juvenile-onset, progressive cataracts and Dowling-Meara
            epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009].
            
            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 :: BC113518.1, U48224.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2161674
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302334.3/ ENSP00000304987.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-517               AC055753.21        149138-149654
            518-600             AC022296.34        122827-122909       c
            601-757             AC022296.34        121581-121737       c
            758-919             AC022296.34        119762-119923       c
            920-1051            AC022296.34        103267-103398       c
            1052-1272           AC022296.34        97661-97881         c
            1273-1512           AC022296.34        95018-95257         c
FEATURES             Location/Qualifiers
     source          1..1512
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..1512
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /note="beaded filament structural protein 2"
                     /db_xref="GeneID:8419"
                     /db_xref="HGNC:HGNC:1041"
                     /db_xref="MIM:603212"
     exon            1..517
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1276
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /note="beaded filament protein CP49; bfps2, Cytoskeletal
                     protein, 49-kD; 49 kDa cytoskeletal protein; lens
                     intermediate filament-like light; lens fiber cell beaded
                     filament protein CP 47; lens fiber cell beaded filament
                     protein CP 49; beaded filament structural protein 2,
                     phakinin"
                     /codon_start=1
                     /product="phakinin"
                     /protein_id="NP_003562.1"
                     /db_xref="CCDS:CCDS33859.1"
                     /db_xref="GeneID:8419"
                     /db_xref="HGNC:HGNC:1041"
                     /db_xref="MIM:603212"
                     /translation="MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRT
                     NAMSGLVRAPGVYVGTAPSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLE
                     RDHGAVEDLGGCLVEYMAKVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASS
                     CQQVGEAVLENARLMLQTETIQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANL
                     TKMDLESQIESLKEELGSLSRNYEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIR
                     IQWERDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAE
                     TESLRALKRGLENTLHDAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLL
                     ARKCQLQKDVASYHALLDREESG"
     exon            518..600
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            601..757
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            758..919
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            920..1051
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1272
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1512
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1487..1492
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /note="hexamer: AATAAA"
     polyA_site      1512
                     /gene="BFSP2"
                     /gene_synonym="CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN"
                     /note="major polyA site"
ORIGIN      
        1 actgggcacc acagaggcag aaggggtgat gagtgagagg cgagtggtag tggacttgcc
       61 caccagtgcc agctccagca tgcccctcca gaggcgcagg gcgtccttca gggggccacg
      121 gtcatcatcc tccctggaga gccccccagc ctccaggacc aatgccatga gtggccttgt
      181 ccgagcaccc ggggtctatg taggaacagc acccagtggg tgcataggtg gcttgggtgc
      241 ccgtgtgacc cgccgggccc tcggcatcag cagtgtcttc cttcagggcc tgcggagctc
      301 aggcctggcc accgtgccgg ctccaggttt ggagagggac catggtgctg ttgaggacct
      361 agggggctgc ctggtggaat atatggccaa agtgcacgcc cttgagcaag tcagtcagga
      421 gctggaaaca caactgcgga tgcacctgga gagcaaagcc acacgctcgg gaaactgggg
      481 tgccctacgg gcttcctggg ccagcagctg ccagcaggtg ggtgaggcag tcttggaaaa
      541 tgcccggctc atgctgcaga cagaaactat ccaggccgga gcagatgact ttaaagagag
      601 atatgaaaat gagcagccat ttcgaaaggc ggcagaagag gaaattaact ctctgtataa
      661 agtcattgat gaggctaatt tgactaaaat ggacctggag agtcaaatag aaagtctgaa
      721 agaagaactt ggctctctat caagaaacta tgaagaggat gtgaagctgc tgcacaaaca
      781 gttggcaggg tgtgagctgg aacaaatgga tgctcccatt ggcactggtc tggacgacat
      841 ccttgagacg atcagaattc agtgggagag agatgttgaa aagaaccggg tggaggcagg
      901 agccctgctc caagctaagc aacaggcgga ggtggcccac atgtcccaga cccaggagga
      961 gaagctggca gctgccctca gggtggagtt acacaacact tcgtgccaag tccagagcct
     1021 ccaggctgag acagaatcct tacgtgccct gaaacgaggc ctggagaaca ccttgcacga
     1081 tgccaagcac tggcatgaca tggagctcca gaacctgggc gctgtggtcg gccggctgga
     1141 ggcggagctc agggaaatcc gagcggaggc ggagcagcag caacaggagc gcgcgcatct
     1201 gctggcccgc aagtgccagc tgcagaagga cgtggcgtcc taccacgccc tgctggacag
     1261 ggaggagagc ggctgatgga gaaacttcct ctttttcatg aagaaaacac ccttcctcaa
     1321 cagctgaccc aagaagttgc ttgaggagct ttctcctgag ctccagtccc tgctggattc
     1381 cctggttaat tcagcttgag ctgaaaagct tcctggaagt ggagaggatc cttctgcttt
     1441 aatctgagta gtctgtagct tgagcaatct cccttgtcct ccttcaaata aatgctttgt
     1501 gcgcagcgtc ca
//
