LOCUS       NM_001887               1041 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens crystallin beta B1 (CRYBB1), mRNA.
ACCESSION   NM_001887
VERSION     NM_001887.4
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 1041)
  AUTHORS   Jing,X., Zhu,M., Lu,X., Wei,P., Shi,L., Zhang,B.Y., Xu,Y.,
            Tang,Y.P., Xiang,D.M. and Gong,P.
  TITLE     Cataract-causing Y204X mutation of crystallin protein CRYbetaB1
            promotes its C-terminal degradation and higher-order
            oligomerization
  JOURNAL   J Biol Chem 299 (8), 104953 (2023)
   PUBMED   37356717
  REMARK    GeneRIF: Cataract-causing Y204X mutation of crystallin protein
            CRYbetaB1 promotes its C-terminal degradation and higher-order
            oligomerization.
REFERENCE   2  (bases 1 to 1041)
  AUTHORS   Liu,J., Xu,W., Wang,K., Chen,F., Ren,L., Xu,J., Yao,K. and Chen,X.
  TITLE     Congenital cataract-causing mutation betaB1-L116P is prone to
            amyloid fibrils aggregation and protease degradation with low
            structural stability
  JOURNAL   Int J Biol Macromol 195, 475-482 (2022)
   PUBMED   34896472
  REMARK    GeneRIF: Congenital cataract-causing mutation betaB1-L116P is prone
            to amyloid fibrils aggregation and protease degradation with low
            structural stability.
REFERENCE   3  (bases 1 to 1041)
  AUTHORS   Ji,Y., Zhao,X., Zhang,J., Zhang,D., Tian,C., Zhang,L., Zhao,Y. and
            Zhao,J.
  TITLE     A novel missense mutation of CRYBB1 causes congenital cataract in a
            Chinese family
  JOURNAL   Eur J Ophthalmol 31 (3), 1064-1069 (2021)
   PUBMED   32223445
  REMARK    GeneRIF: A novel missense mutation of CRYBB1 causes congenital
            cataract in a Chinese family.
REFERENCE   4  (bases 1 to 1041)
  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   5  (bases 1 to 1041)
  AUTHORS   Jin,A., Zhang,Y., Xiao,D., Xiang,M., Jin,K. and Zeng,M.
  TITLE     A Novel Mutation p.S93R in CRYBB1 Associated with Dominant
            Congenital Cataract and Microphthalmia
  JOURNAL   Curr Eye Res 45 (4), 483-489 (2020)
   PUBMED   31566446
  REMARK    GeneRIF: A Novel Mutation p.S93R in CRYBB1 Associated with Dominant
            Congenital Cataract and Microphthalmia.
REFERENCE   6  (bases 1 to 1041)
  AUTHORS   MacCoss,M.J., McDonald,W.H., Saraf,A., Sadygov,R., Clark,J.M.,
            Tasto,J.J., Gould,K.L., Wolters,D., Washburn,M., Weiss,A.,
            Clark,J.I. and Yates,J.R. 3rd.
  TITLE     Shotgun identification of protein modifications from protein
            complexes and lens tissue
  JOURNAL   Proc Natl Acad Sci U S A 99 (12), 7900-7905 (2002)
   PUBMED   12060738
REFERENCE   7  (bases 1 to 1041)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   8  (bases 1 to 1041)
  AUTHORS   Lampi,K.J., Ma,Z., Hanson,S.R., Azuma,M., Shih,M., Shearer,T.R.,
            Smith,D.L., Smith,J.B. and David,L.L.
  TITLE     Age-related changes in human lens crystallins identified by
            two-dimensional electrophoresis and mass spectrometry
  JOURNAL   Exp Eye Res 67 (1), 31-43 (1998)
   PUBMED   9702176
REFERENCE   9  (bases 1 to 1041)
  AUTHORS   David,L.L., Lampi,K.J., Lund,A.L. and Smith,J.B.
  TITLE     The sequence of human betaB1-crystallin cDNA allows mass
            spectrometric detection of betaB1 protein missing portions of its
            N-terminal extension
  JOURNAL   J Biol Chem 271 (8), 4273-4279 (1996)
   PUBMED   8626774
REFERENCE   10 (bases 1 to 1041)
  AUTHORS   Hulsebos,T.J., Gilbert,D.J., Delattre,O., Smink,L.J., Dunham,I.,
            Westerveld,A., Thomas,G., Jenkins,N.A. and Copeland,N.G.
  TITLE     Assignment of the beta B1 crystallin gene (CRYBB1) to human
            chromosome 22 and mouse chromosome 5
  JOURNAL   Genomics 29 (3), 712-718 (1995)
   PUBMED   8575764
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U35340.1 and BM669750.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 7, 2018 this sequence version replaced NM_001887.3.
            
            Summary: Crystallins are separated into two classes:
            taxon-specific, or enzyme, and ubiquitous. The latter class
            constitutes the major proteins of vertebrate eye lens and maintains
            the transparency and refractive index of the lens. Since lens
            central fiber cells lose their nuclei during development, these
            crystallins are made and then retained throughout life, making them
            extremely stable proteins. Mammalian lens crystallins are divided
            into alpha, beta, and gamma families; beta and gamma crystallins
            are also considered as a superfamily. Alpha and beta families are
            further divided into acidic and basic groups. Seven protein regions
            exist in crystallins: four homologous motifs, a connecting peptide,
            and N- and C-terminal extensions. Beta-crystallins, the most
            heterogeneous, differ by the presence of the C-terminal extension
            (present in the basic group, none in the acidic group).
            Beta-crystallins form aggregates of different sizes and are able to
            self-associate to form dimers or to form heterodimers with other
            beta-crystallins. This gene, a beta basic group member, undergoes
            extensive cleavage at its N-terminal extension during lens
            maturation. It is also a member of a gene cluster with beta-A4,
            beta-B2, and beta-B3. [provided by RefSeq, Jul 2008].
            
            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 :: BY794960.2, U35340.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647684.1/ ENSP00000497249.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-864               U35340.1           3-866
            865-1041            BM669750.1         19-195              c
FEATURES             Location/Qualifiers
     source          1..1041
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     gene            1..1041
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /note="crystallin beta B1"
                     /db_xref="GeneID:1414"
                     /db_xref="HGNC:HGNC:2397"
                     /db_xref="MIM:600929"
     exon            1..51
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /inference="alignment:Splign:2.1.0"
     exon            52..250
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..829
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /note="eye lens structural protein; beta-B1 crystallin"
                     /codon_start=1
                     /product="beta-crystallin B1"
                     /protein_id="NP_001878.1"
                     /db_xref="CCDS:CCDS13840.1"
                     /db_xref="GeneID:1414"
                     /db_xref="HGNC:HGNC:2397"
                     /db_xref="MIM:600929"
                     /translation="MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTV
                     PITSAKAAELPPGNYRLVVFELENFQGRRAEFSGECSNLADRGFDRVRSIIVSAGPWV
                     AFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
                     GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNE
                     WGAFQPQMQSLRRLRDKQWHLEGSFPVLATEPPK"
     exon            251..369
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /inference="alignment:Splign:2.1.0"
     exon            370..502
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /inference="alignment:Splign:2.1.0"
     exon            503..645
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /inference="alignment:Splign:2.1.0"
     exon            646..1041
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      903..908
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /note="hexamer: AATAAA"
     polyA_site      925
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /note="major polyA site"
     regulatory      1015..1020
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /note="hexamer: AATAAA"
     polyA_site      1038
                     /gene="CRYBB1"
                     /gene_synonym="CATCN3; CTRCT17"
                     /note="major polyA site"
ORIGIN      
        1 atagcacctg cccgcctgcc tgtcctccag caggaagtag caagtcccca gacttttgca
       61 ggcgggaacc atgtctcagg ctgcaaaggc ctcggcctcg gccacagtgg cggtgaaccc
      121 agggcctgac accaagggga agggggcccc acctgcagga acatccccta gtcccggcac
      181 taccctggcc ccaacaaccg tgcctattac cagcgccaag gcggcggaac tgcctcctgg
      241 gaactacagg ctggtggtct tcgaactgga aaacttccag ggccgtcgag cagaattctc
      301 gggggagtgc tcaaatctgg cagaccgtgg cttcgaccgt gtgcgcagca tcattgtctc
      361 cgcgggaccc tgggtcgcct ttgagcagtc caacttccgc ggggagatgt tcatcctgga
      421 gaagggcgag taccctcgct ggaacacatg gtcgagcagc taccgcagtg atcggctcat
      481 gtccttccgg cccatcaaaa tggatgccca ggagcacaaa atctccctgt ttgaaggggc
      541 caacttcaag ggcaacacca tagagatcca gggggacgac gcacccagtc tctgggtcta
      601 cggcttcagt gaccgcgtgg gcagcgtgaa ggtctccagt ggaacatggg ttggctatca
      661 gtatcctggc taccgcgggt accagtacct cctagagcct ggtgacttcc ggcactggaa
      721 tgagtgggga gccttccagc cacagatgca gtccctgcgt cgcctgcgtg acaagcagtg
      781 gcacctcgag gggtccttcc ctgtcctggc cacagagccc cccaagtgag tccacacctc
      841 actctgctac cttgccccaa cccttcttca tgttcaatta tttcccccat ttttcccagg
      901 caaataaaat tccctaaagc caaaatttct cctggatctg taaacagatg tgtgccttga
      961 ggtcccccat agttactggg atgtgacttc ctcgctctta ataattacaa cgataataaa
     1021 agcagcaaac actgaaaagt t
//
