LOCUS       NM_001886                809 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens crystallin beta A4 (CRYBA4), mRNA.
ACCESSION   NM_001886
VERSION     NM_001886.3
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 809)
  AUTHORS   Zhang,X., Liang,C., Liu,M., Wang,Z., Leng,X., Xie,S., Tan,X.,
            Yang,Y. and Liu,Y.
  TITLE     A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene
            contributes to autosomal-dominant congenital cataract in a Chinese
            family
  JOURNAL   Int Ophthalmol 43 (1), 43-50 (2023)
   PUBMED   35840783
  REMARK    GeneRIF: A novel missense variant c.71G > T (p.Gly24Val) of the
            CRYBA4 gene contributes to autosomal-dominant congenital cataract
            in a Chinese family.
REFERENCE   2  (bases 1 to 809)
  AUTHORS   Wang,Z., Huang,C., Lv,H., Zhang,M. and Li,X.
  TITLE     In silico analysis and high-risk pathogenic phenotype predictions
            of non-synonymous single nucleotide polymorphisms in human
            Crystallin beta A4 gene associated with congenital cataract
  JOURNAL   PLoS One 15 (1), e0227859 (2020)
   PUBMED   31935276
  REMARK    GeneRIF: his study provides important reference value when
            narrowing down the number of pathogenic CRYBA4 nsSNPs and studying
            the pathogenesis of congenital cataracts. By using this method, we
            can easily find 44 high-risk pathogenic nsSNPs out of 157 CRYBA4
            nsSNPs
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 809)
  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 809)
  AUTHORS   Li,W., Ji,Q., Wei,Z., Chen,Y.L., Zhang,Z., Yin,X., Aghmiuni,S.K.,
            Liu,M., Chen,W., Shi,L., Chen,Q., Du,X., Yu,L., Cao,M.J., Wang,Z.,
            Huang,S., Jin,T. and Wang,Q.
  TITLE     Biochemical characterization of G64W mutant of acidic
            beta-crystallin 4
  JOURNAL   Exp Eye Res 186, 107712 (2019)
   PUBMED   31254514
REFERENCE   5  (bases 1 to 809)
  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   6  (bases 1 to 809)
  AUTHORS   Bijlsma,E.K., Delattre,O., Juyn,J.A., Melot,T., Westerveld,A.,
            Dumanski,J.P., Thomas,G. and Hulsebos,T.J.
  TITLE     Regional fine mapping of the beta crystallin genes on chromosome 22
            excludes these genes as physically linked markers for
            neurofibromatosis type 2
  JOURNAL   Genes Chromosomes Cancer 8 (2), 112-118 (1993)
   PUBMED   7504514
REFERENCE   7  (bases 1 to 809)
  AUTHORS   David,L.L., Shearer,T.R. and Shih,M.
  TITLE     Sequence analysis of lens beta-crystallins suggests involvement of
            calpain in cataract formation
  JOURNAL   J Biol Chem 268 (3), 1937-1940 (1993)
   PUBMED   8420967
REFERENCE   8  (bases 1 to 809)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   9  (bases 1 to 809)
  AUTHORS   van Rens,G.L., Geurts van Kessel,A.H. and Bloemendal,H.
  TITLE     Localization of the beta A4-crystallin gene (CRYBA4) on human
            chromosome 22 in the region q11.2-->q13.1
  JOURNAL   Cytogenet Cell Genet 61 (3), 180-183 (1992)
   PUBMED   1424806
REFERENCE   10 (bases 1 to 809)
  AUTHORS   Schuschke,G., Mielke,U., Bodamer,S. and Rosenkranz,M.
  TITLE     [Feral domestic pigeons as a hygienic problem in big cities--the
            situation in Magdeburg]
  JOURNAL   Z Gesamte Hyg 22 (1), 30-34 (1976)
   PUBMED   960806
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z95115.1, BC069404.1,
            BF726612.1, BC096172.3 and BM667295.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001886.2.
            
            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, is part of
            a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: Experimental evidence for the bovine
            betaA4-crystallin in PMID: 1874445 suggests that a possible
            translation start codon would exist at nt 3-5 in this human
            sequence. No experimental evidence currently exists for a longer
            protein being produced in human cells.
            
            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 :: U59057.1, KM365089.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:8999933)
            MANE Ensembl match               :: ENST00000354760.4/
                                                ENSP00000346805.3
            RefSeq Select criteria           :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 Z95115.1           119429-119429
            2-194               BC069404.1         1-193
            195-378             BF726612.1         190-373
            379-742             BC096172.3         370-733
            743-809             BM667295.1         21-87               c
FEATURES             Location/Qualifiers
     source          1..809
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     gene            1..809
                     /gene="CRYBA4"
                     /gene_synonym="CTRCT23; CYRBA4; MCOPCT4"
                     /note="crystallin beta A4"
                     /db_xref="GeneID:1413"
                     /db_xref="HGNC:HGNC:2396"
                     /db_xref="MIM:123631"
     exon            1..24
                     /gene="CRYBA4"
                     /gene_synonym="CTRCT23; CYRBA4; MCOPCT4"
                     /inference="alignment:Splign:2.1.0"
     exon            25..75
                     /gene="CRYBA4"
                     /gene_synonym="CTRCT23; CYRBA4; MCOPCT4"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..627
                     /gene="CRYBA4"
                     /gene_synonym="CTRCT23; CYRBA4; MCOPCT4"
                     /note="eye lens structural protein; crystallin, beta
                     polypeptide A4; beta-A4 crystallin; beta crystallin A4
                     chain transcript PS; beta crystallin alpha 4 chain"
                     /codon_start=1
                     /product="beta-crystallin A4"
                     /protein_id="NP_001877.1"
                     /db_xref="CCDS:CCDS13841.1"
                     /db_xref="GeneID:1413"
                     /db_xref="HGNC:HGNC:2396"
                     /db_xref="MIM:123631"
                     /translation="MTLQCTKSAGPWKMVVWDEDGFQGRRHEFTAECPSVLELGFETV
                     RSLKVLSGAWVGFEHAGFQGQQYILERGEYPSWDAWGGNTAYPAERLTSFRPAACANH
                     RDSRLTIFEQENFLGKKGELSDDYPSLQAMGWEGNEVGSFHVHSGAWVCSQFPGYRGF
                     QYVLECDHHSGDYKHFREWGSHAPTFQVQSIRRIQQ"
     exon            76..194
                     /gene="CRYBA4"
                     /gene_synonym="CTRCT23; CYRBA4; MCOPCT4"
                     /inference="alignment:Splign:2.1.0"
     exon            195..336
                     /gene="CRYBA4"
                     /gene_synonym="CTRCT23; CYRBA4; MCOPCT4"
                     /inference="alignment:Splign:2.1.0"
     exon            337..479
                     /gene="CRYBA4"
                     /gene_synonym="CTRCT23; CYRBA4; MCOPCT4"
                     /inference="alignment:Splign:2.1.0"
     exon            480..809
                     /gene="CRYBA4"
                     /gene_synonym="CTRCT23; CYRBA4; MCOPCT4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      787..792
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYBA4"
                     /gene_synonym="CTRCT23; CYRBA4; MCOPCT4"
                     /note="hexamer: AATAAA"
     polyA_site      809
                     /gene="CRYBA4"
                     /gene_synonym="CTRCT23; CYRBA4; MCOPCT4"
                     /note="major polyA site"
ORIGIN      
        1 gacatgttcc ctgggcctat ctcggaaggg gccacaatga ccctgcaatg cacaaagtca
       61 gcgggaccct ggaagatggt ggtgtgggat gaggacggct tccagggccg gcggcacgag
      121 ttcacggccg agtgccccag cgtgctggag cttggcttcg agactgtgcg atctttgaaa
      181 gtgctgagtg gagcgtgggt gggctttgag catgctggct tccaagggca gcagtacatt
      241 ctggaacgag gcgaatatcc aagctgggat gcctggggcg gcaacacggc ctaccccgcc
      301 gagaggctca cctccttccg gcctgcggcc tgtgctaacc accgtgactc gaggctgaca
      361 atcttcgagc aagagaactt cctgggcaag aaaggagagc tgagcgatga ctatccttcc
      421 ctccaggcca tgggatggga aggcaatgaa gtagggtcct tccacgtcca ctctggggcc
      481 tgggtttgct cccagtttcc gggctaccga ggatttcagt atgtgctgga atgcgatcac
      541 cattccggtg actacaaaca tttccgggag tggggctctc atgccccgac cttccaggtg
      601 cagagcatcc gcaggatcca gcagtgaaca ggggtgcggc acggaggagc gcatgcgtgc
      661 ttatctgcaa tggaggcgct ctggaggctg tggtgtgttc tctccttctg cctccccctg
      721 taacctgtgt gaacccagca cccatgtgaa ctggtccgtg cacagtcagc acaaaaaact
      781 caaacgaata aaaaagagaa agtctggta
//
