LOCUS       NM_004076                855 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens crystallin beta B3 (CRYBB3), mRNA.
ACCESSION   NM_004076
VERSION     NM_004076.5
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 855)
  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 855)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 855)
  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   4  (bases 1 to 855)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 855)
  AUTHORS   Jiao,X., Kabir,F., Irum,B., Khan,A.O., Wang,Q., Li,D., Khan,A.A.,
            Husnain,T., Akram,J., Riazuddin,S., Hejtmancik,J.F. and
            Riazuddin,S.A.
  TITLE     A Common Ancestral Mutation in CRYBB3 Identified in Multiple
            Consanguineous Families with Congenital Cataracts
  JOURNAL   PLoS One 11 (6), e0157005 (2016)
   PUBMED   27326458
  REMARK    GeneRIF: a common ancestral mutation in CRYBB3 associated with
            autosomal recessive congenital cataracts identified in four
            familial cases of Pakistani origin, is reported.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 855)
  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   7  (bases 1 to 855)
  AUTHORS   Lampi,K.J., Ma,Z., Shih,M., Shearer,T.R., Smith,J.B., Smith,D.L.
            and David,L.L.
  TITLE     Sequence analysis of betaA3, betaB3, and betaA4 crystallins
            completes the identification of the major proteins in young human
            lens
  JOURNAL   J Biol Chem 272 (4), 2268-2275 (1997)
   PUBMED   8999933
REFERENCE   8  (bases 1 to 855)
  AUTHORS   Kimoto,Y.
  TITLE     A possibility of all mRNA expression in a human single lymphocyte
  JOURNAL   Hum Cell 9 (4), 367-370 (1996)
   PUBMED   9183670
REFERENCE   9  (bases 1 to 855)
  AUTHORS   Kramer,P., Yount,J., Mitchell,T., LaMorticella,D.,
            Carrero-Valenzuela,R., Lovrien,E., Maumenee,I. and Litt,M.
  TITLE     A second gene for cerulean cataracts maps to the beta crystallin
            region on chromosome 22
  JOURNAL   Genomics 35 (3), 539-542 (1996)
   PUBMED   8812489
REFERENCE   10 (bases 1 to 855)
  AUTHORS   Aarts,H.J., Jacobs,E.H., van Willigen,G., Lubsen,N.H. and
            Schoenmakers,J.G.
  TITLE     Different evolution rates within the lens-specific beta-crystallin
            gene family
  JOURNAL   J Mol Evol 28 (4), 313-321 (1989)
   PUBMED   2499686
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM711382.1, BC102021.1 and
            BF726163.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004076.4.
            
            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, is part of
            a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in
            this gene result in cataract congenital nuclear autosomal recessive
            type 2. [provided by RefSeq, Feb 2013].
            
            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 :: BC102021.1, CR456427.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215855.7/ ENSP00000215855.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-494               BM711382.1         9-502
            495-845             BC102021.1         460-810
            846-855             BF726163.1         362-371
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..855
                     /gene="CRYBB3"
                     /gene_synonym="CATCN2; CRYB3; CTRCT22"
                     /note="crystallin beta B3"
                     /db_xref="GeneID:1417"
                     /db_xref="HGNC:HGNC:2400"
                     /db_xref="MIM:123630"
     exon            1..52
                     /gene="CRYBB3"
                     /gene_synonym="CATCN2; CRYB3; CTRCT22"
                     /inference="alignment:Splign:2.1.0"
     exon            53..147
                     /gene="CRYBB3"
                     /gene_synonym="CATCN2; CRYB3; CTRCT22"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..708
                     /gene="CRYBB3"
                     /gene_synonym="CATCN2; CRYB3; CTRCT22"
                     /note="eye lens structural protein"
                     /codon_start=1
                     /product="beta-crystallin B3"
                     /protein_id="NP_004067.1"
                     /db_xref="CCDS:CCDS13830.1"
                     /db_xref="GeneID:1417"
                     /db_xref="HGNC:HGNC:2400"
                     /db_xref="MIM:123630"
                     /translation="MAEQHGAPEQAAAGKSHGDLGGSYKVILYELENFQGKRCELSAE
                     CPSLTDSLLEKVGSIQVESGPWLAFESRAFRGEQFVLEKGDYPRWDAWSNSRDSDSLL
                     SLRPLNIDSPHHKLHLFENPAFSGRKMEIVDDDVPSLWAHGFQDRVASVRAINGTWVG
                     YEFPGYRGRQYVFERGEYRHWNEWDASQPQLQSVRRIRDQKWHKRGRFPSS"
     exon            148..266
                     /gene="CRYBB3"
                     /gene_synonym="CATCN2; CRYB3; CTRCT22"
                     /inference="alignment:Splign:2.1.0"
     exon            267..399
                     /gene="CRYBB3"
                     /gene_synonym="CATCN2; CRYB3; CTRCT22"
                     /inference="alignment:Splign:2.1.0"
     exon            400..542
                     /gene="CRYBB3"
                     /gene_synonym="CATCN2; CRYB3; CTRCT22"
                     /inference="alignment:Splign:2.1.0"
     exon            543..855
                     /gene="CRYBB3"
                     /gene_synonym="CATCN2; CRYB3; CTRCT22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      824..829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYBB3"
                     /gene_synonym="CATCN2; CRYB3; CTRCT22"
                     /note="hexamer: AATAAA"
     polyA_site      855
                     /gene="CRYBB3"
                     /gene_synonym="CATCN2; CRYB3; CTRCT22"
                     /note="major polyA site"
ORIGIN      
        1 gagtctgcag acggccgtgg ctcctctgtt cttcccgagg ctacagcaac agccagaggt
       61 gttcctgggg agatggcgga acagcacgga gcacccgaac aggctgcagc tggcaagagc
      121 catggagacc ttgggggcag ctacaaggtg atcttgtacg aactagagaa cttccaaggc
      181 aaacgctgcg agctctcggc cgagtgcccc agcctgaccg acagcctgct ggagaaggtg
      241 ggctccatcc aagtggagtc cgggccgtgg ctggcatttg agtccagggc cttccgcggg
      301 gagcagtttg ttctggagaa gggggattat cctcgctggg atgcctggtc caacagccgt
      361 gatagtgaca gccttctgtc cctccggcct ctgaatattg atagtccaca tcacaagctg
      421 catctgtttg agaacccagc tttcagtggc cgcaagatgg agatagtgga tgatgacgtg
      481 cccagcctgt gggctcatgg cttccaggac cgtgtggcga gtgtccgtgc catcaacggg
      541 acgtgggttg gctatgagtt ccccggctac cgtgggcgcc agtacgtgtt tgagcggggc
      601 gagtaccgcc actggaatga gtgggacgcc agccagccgc agctgcagtc tgtgcgccgc
      661 atccgtgacc agaagtggca caagcggggc cgcttcccca gcagctgaaa ggcacccaga
      721 cttcaaggac ccagacccac cctggggggc tgcaagggca agaagaggag gctccagggt
      781 tggggcgagg gccgacctgt ccacccttcc ctggaatctg ctcaataaag cctggggttg
      841 gtcccccacc cgcca
//
