LOCUS       NM_005208                798 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens crystallin beta A1 (CRYBA1), mRNA.
ACCESSION   NM_005208
VERSION     NM_005208.5
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 798)
  AUTHORS   Wang,H., Tian,Q., Xu,J., Xu,W., Yao,K. and Chen,X.
  TITLE     Cataract-causing G91del mutant destabilised betaA3 heteromers
            formation linking with structural stability and cellular viability
  JOURNAL   Br J Ophthalmol 106 (10), 1473-1478 (2022)
   PUBMED   34489339
  REMARK    GeneRIF: Cataract-causing G91del mutant destabilised betaA3
            heteromers formation linking with structural stability and cellular
            viability.
REFERENCE   2  (bases 1 to 798)
  AUTHORS   Ni,S.H., Zhang,J.M. and Zhao,J.
  TITLE     A novel missense mutation of CRYBA1 in a northern Chinese family
            with inherited coronary cataract with blue punctate opacities
  JOURNAL   Eur J Ophthalmol 32 (1), 193-199 (2022)
   PUBMED   33827296
  REMARK    GeneRIF: A novel missense mutation of CRYBA1 in a northern Chinese
            family with inherited coronary cataract with blue punctate
            opacities.
REFERENCE   3  (bases 1 to 798)
  AUTHORS   Xu,J., Wang,H., Wu,C., Wang,A., Wu,W., Xu,J., Luo,C., Ni,S., Yao,K.
            and Chen,X.
  TITLE     Pathogenic mechanism of congenital cataract caused by the
            CRYBA1/A3-G91del variant and related intervention strategies
  JOURNAL   Int J Biol Macromol 189, 44-52 (2021)
   PUBMED   34419537
  REMARK    GeneRIF: Pathogenic mechanism of congenital cataract caused by the
            CRYBA1/A3-G91del variant and related intervention strategies.
REFERENCE   4  (bases 1 to 798)
  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 798)
  AUTHORS   Li,D., Jing,Q. and Jiang,Y.
  TITLE     The identification and characterization of the p.G91 deletion in
            CRYBA1 in a Chinese family with congenital cataracts
  JOURNAL   BMC Med Genet 20 (1), 153 (2019)
   PUBMED   31488069
  REMARK    GeneRIF: CRYBA1 showed lower expression in cataract lenses than in
            control lenses. The deleted form (p.G91del) of CRYBA1 showed lower
            expression and was more aggregate to the cell membrane than the
            wild-type CRYBA1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 798)
  AUTHORS   Werten,P.J., Carver,J.A., Jaenicke,R. and de Jong,W.W.
  TITLE     The elusive role of the N-terminal extension of beta A3- and beta
            A1-crystallin
  JOURNAL   Protein Eng 9 (11), 1021-1028 (1996)
   PUBMED   8961355
REFERENCE   7  (bases 1 to 798)
  AUTHORS   Basti,S., Hejtmancik,J.F., Padma,T., Ayyagari,R.,
            Kaiser-Kupfer,M.I., Murty,J.S. and Rao,G.N.
  TITLE     Autosomal dominant zonular cataract with sutural opacities in a
            four-generation family
  JOURNAL   Am J Ophthalmol 121 (2), 162-168 (1996)
   PUBMED   8623885
REFERENCE   8  (bases 1 to 798)
  AUTHORS   Hulsebos,T.J., Bijlsma,E.K., Geurts van Kessel,A.H.,
            Brakenhoff,R.H. and Westerveld,A.
  TITLE     Direct assignment of the human beta B2 and beta B3 crystallin genes
            to 22q11.2----q12: markers for neurofibromatosis 2
  JOURNAL   Cytogenet Cell Genet 56 (3-4), 171-175 (1991)
   PUBMED   2055112
REFERENCE   9  (bases 1 to 798)
  AUTHORS   Sparkes,R.S., Mohandas,T., Heinzmann,C., Gorin,M.B., Zollman,S. and
            Horwitz,J.
  TITLE     Assignment of a human beta-crystallin gene to 17cen-q23
  JOURNAL   Hum Genet 74 (2), 133-136 (1986)
   PUBMED   3770741
REFERENCE   10 (bases 1 to 798)
  AUTHORS   Hogg,D., Tsui,L.C., Gorin,M. and Breitman,M.L.
  TITLE     Characterization of the human beta-crystallin gene Hu beta A3/A1
            reveals ancestral relationships among the beta gamma-crystallin
            superfamily
  JOURNAL   J Biol Chem 261 (26), 12420-12427 (1986)
   PUBMED   3745196
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005412.8, BC113693.1 and
            BU735083.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_005208.4.
            
            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 acidic group member, encodes
            two proteins (crystallin, beta A3 and crystallin, beta A1) from a
            single mRNA, the latter protein is 17 aa shorter than crystallin,
            beta A3 and is generated by use of an alternate translation
            initiation site. Deletion of exons 3 and 4 causes the autosomal
            dominant disease 'zonular cataract with sutural opacities'.
            [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 :: EB361356.1, EB361468.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2148093,
                                           SAMEA2148874 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225387.8/ ENSP00000225387.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AC005412.8         97111-97114         c
            5-754               BC113693.1         1-750
            755-798             BU735083.1         7-50                c
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..798
                     /gene="CRYBA1"
                     /gene_synonym="CRYB1; CTRCT10"
                     /note="crystallin beta A1"
                     /db_xref="GeneID:1411"
                     /db_xref="HGNC:HGNC:2394"
                     /db_xref="MIM:123610"
     exon            1..36
                     /gene="CRYBA1"
                     /gene_synonym="CRYB1; CTRCT10"
                     /inference="alignment:Splign:2.1.0"
     CDS             6..653
                     /gene="CRYBA1"
                     /gene_synonym="CRYB1; CTRCT10"
                     /note="eye lens structural protein; crystallin, beta A3;
                     beta crystallin A3 chain transcript CN; beta crystallin A3
                     chain transcript LAM; beta crystallin A3 chain transcript
                     PS; beta crystallin A3 chain transcript TC; crystallin
                     beta A3/A1"
                     /codon_start=1
                     /product="beta-crystallin A3"
                     /protein_id="NP_005199.2"
                     /db_xref="CCDS:CCDS11249.1"
                     /db_xref="GeneID:1411"
                     /db_xref="HGNC:HGNC:2394"
                     /db_xref="MIM:123610"
                     /translation="METQAEQQELETLPTTKMAQTNPTPGSLGPWKITIYDQENFQGK
                     RMEFTSSCPNVSERSFDNVRSLKVESGAWIGYEHTSFCGQQFILERGEYPRWDAWSGS
                     NAYHIERLMSFRPICSANHKESKMTIFEKENFIGRQWEISDDYPSLQAMGWFNNEVGS
                     MKIQSGAWVCYQYPGYRGYQYILECDHHGGDYKHWREWGSHAQTSQIQSIRRIQQ"
     exon            37..101
                     /gene="CRYBA1"
                     /gene_synonym="CRYB1; CTRCT10"
                     /inference="alignment:Splign:2.1.0"
     exon            102..220
                     /gene="CRYBA1"
                     /gene_synonym="CRYB1; CTRCT10"
                     /inference="alignment:Splign:2.1.0"
     exon            221..362
                     /gene="CRYBA1"
                     /gene_synonym="CRYB1; CTRCT10"
                     /inference="alignment:Splign:2.1.0"
     exon            363..505
                     /gene="CRYBA1"
                     /gene_synonym="CRYB1; CTRCT10"
                     /inference="alignment:Splign:2.1.0"
     exon            506..798
                     /gene="CRYBA1"
                     /gene_synonym="CRYB1; CTRCT10"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 accagatgga gacccaggct gagcagcagg agctggaaac ccttccaacc accaagatgg
       61 ctcagaccaa ccctacgccg gggtccctgg ggccatggaa gataaccatc tatgatcagg
      121 agaactttca gggcaagagg atggagttca ccagctcctg tccaaatgtc tctgagcgca
      181 gttttgataa tgtccggtcc ctgaaggtgg aaagtggcgc ctggattggt tatgagcata
      241 ccagcttctg tgggcaacag tttatcctgg agagaggaga ataccctcgc tgggatgcct
      301 ggagtgggag taatgcctac cacattgagc gtctcatgtc cttccgcccc atctgttcag
      361 ctaatcataa ggagtctaag atgaccatct ttgagaagga aaactttatt ggacgccagt
      421 gggagatctc tgacgactac ccctccttgc aagccatggg ctggttcaac aacgaagtcg
      481 gctccatgaa gatacaaagt ggggcctggg tttgctacca atatcctgga tatcgtgggt
      541 atcagtatat cttggaatgt gaccatcatg gaggagacta taaacattgg agagagtggg
      601 gctctcatgc ccagacttcg cagatccaat cgattcgccg aatccaacag tagctgatta
      661 aaagctccaa gtacgataat tcctcaagca tgagaccttg ctaagcactc tagaataagt
      721 tttatgttct gctcacagac attgctttca aatgttagct gctgaaatcc acaataaacg
      781 tcatttaaaa aaaaaaaa
//
