LOCUS       NM_014617                622 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens crystallin gamma A (CRYGA), mRNA.
ACCESSION   NM_014617
VERSION     NM_014617.4
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 622)
  AUTHORS   Xu,W., Xu,J., Shi,C., Wu,J., Wang,H., Wu,W., Chen,X. and Hu,L.
  TITLE     A novel cataract-causing mutation Ile82Met of gammaA crystallin
            trends to aggregate with unfolding intermediate
  JOURNAL   Int J Biol Macromol 211, 357-367 (2022)
   PUBMED   35513103
  REMARK    GeneRIF: A novel cataract-causing mutation Ile82Met of gammaA
            crystallin trends to aggregate with unfolding intermediate.
REFERENCE   2  (bases 1 to 622)
  AUTHORS   Wu,J., Xu,W., Wu,W., Xu,J., Zheng,S., Shentu,X. and Chen,X.
  TITLE     Cataract-causing mutation R48C increases gammaA-crystallin
            susceptibility to oxidative stress and ultraviolet radiation
  JOURNAL   Int J Biol Macromol 194, 688-694 (2022)
   PUBMED   34826455
  REMARK    GeneRIF: Cataract-causing mutation R48C increases gammaA-crystallin
            susceptibility to oxidative stress and ultraviolet radiation.
REFERENCE   3  (bases 1 to 622)
  AUTHORS   Sharma,K.K. and Santhoshkumar,P.
  TITLE     Lens aging: effects of crystallins
  JOURNAL   Biochim Biophys Acta 1790 (10), 1095-1108 (2009)
   PUBMED   19463898
  REMARK    GeneRIF: Studies show that The major proteins in the lens--alpha,
            beta, and gamma-crystallins--are constantly subjected to
            age-related changes.
            Review article
REFERENCE   4  (bases 1 to 622)
  AUTHORS   Kapur,S., Mehra,S., Gajjar,D., Vasavada,A., Kapoor,M., Sharad,S.,
            Alapure,B. and Rajkumar,S.
  TITLE     Analysis of single nucleotide polymorphisms of CRYGA and CRYGB
            genes in control population of western Indian origin
  JOURNAL   Indian J Ophthalmol 57 (3), 197-201 (2009)
   PUBMED   19384013
  REMARK    GeneRIF: This study establishes baseline frequency data for four
            SNPs in CRYGA and CRYGB genes for future case control studies on
            the role of these SNPs in the genetic basis of cataract.
            GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 622)
  AUTHORS   Salim,A. and Zaidi,Z.H.
  TITLE     Homology models of human gamma-crystallins: structural study of the
            extensive charge network in gamma-crystallins
  JOURNAL   Biochem Biophys Res Commun 300 (3), 624-630 (2003)
   PUBMED   12507494
REFERENCE   6  (bases 1 to 622)
  AUTHORS   Brakenhoff,R.H., Aarts,H.J., Reek,F.H., Lubsen,N.H. and
            Schoenmakers,J.G.
  TITLE     Human gamma-crystallin genes. A gene family on its way to
            extinction
  JOURNAL   J Mol Biol 216 (3), 519-532 (1990)
   PUBMED   2258929
REFERENCE   7  (bases 1 to 622)
  AUTHORS   Siezen,R.J., Thomson,J.A., Kaplan,E.D. and Benedek,G.B.
  TITLE     Human lens gamma-crystallins: isolation, identification, and
            characterization of the expressed gene products
  JOURNAL   Proc Natl Acad Sci U S A 84 (17), 6088-6092 (1987)
   PUBMED   3476929
REFERENCE   8  (bases 1 to 622)
  AUTHORS   Meakin,S.O., Du,R.P., Tsui,L.C. and Breitman,M.L.
  TITLE     Gamma-crystallins of the human eye lens: expression analysis of
            five members of the gene family
  JOURNAL   Mol Cell Biol 7 (8), 2671-2679 (1987)
   PUBMED   3670288
REFERENCE   9  (bases 1 to 622)
  AUTHORS   Shiloh,Y., Donlon,T., Bruns,G., Breitman,M.L. and Tsui,L.C.
  TITLE     Assignment of the human gamma-crystallin gene cluster (CRYG) to the
            long arm of chromosome 2, region q33-36
  JOURNAL   Hum Genet 73 (1), 17-19 (1986)
   PUBMED   3011643
REFERENCE   10 (bases 1 to 622)
  AUTHORS   den Dunnen,J.T., Jongbloed,R.J., Geurts van Kessel,A.H. and
            Schoenmakers,J.G.
  TITLE     Human lens gamma-crystallin sequences are located in the p12-qter
            region of chromosome 2
  JOURNAL   Hum Genet 70 (3), 217-221 (1985)
   PUBMED   2991114
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016697.8, BM698524.1 and
            EF426311.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_014617.3.
            
            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. Gamma-crystallins are a
            homogeneous group of highly symmetrical, monomeric proteins
            typically lacking connecting peptides and terminal extensions. They
            are differentially regulated after early development. Four
            gamma-crystallin genes (gamma-A through gamma-D) and three
            pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a
            genomic segment as a gene cluster. Whether due to aging or
            mutations in specific genes, gamma-crystallins have been involved
            in cataract formation. [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 :: BU737436.1, EF426311.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2148093,
                                           SAMN03465403 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304502.5/ ENSP00000302105.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AC016697.8         21507-21522         c
            17-24               BM698524.1         1-8
            25-622              EF426311.1         1-598
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     gene            1..622
                     /gene="CRYGA"
                     /gene_synonym="CRY-g-A; CRYG1; CRYG5"
                     /note="crystallin gamma A"
                     /db_xref="GeneID:1418"
                     /db_xref="HGNC:HGNC:2408"
                     /db_xref="MIM:123660"
     exon            1..42
                     /gene="CRYGA"
                     /gene_synonym="CRY-g-A; CRYG1; CRYG5"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..558
                     /gene="CRYGA"
                     /gene_synonym="CRY-g-A; CRYG1; CRYG5"
                     /note="crystallin, gamma 1; gamma-crystallin 5"
                     /codon_start=1
                     /product="gamma-crystallin A"
                     /protein_id="NP_055432.2"
                     /db_xref="CCDS:CCDS33367.1"
                     /db_xref="GeneID:1418"
                     /db_xref="HGNC:HGNC:2408"
                     /db_xref="MIM:123660"
                     /translation="MGKITFYEDRDFQGRCYNCISDCPNLRVYFSRCNSIRVDSGCWM
                     LYERPNYQGHQYFLRRGKYPDYQHWMGLSDSVQSCRIIPHTSSHKLRLYERDDYRGLM
                     SELTDDCACVPELFRLPEIYSLHVLEGCWVLYEMPNYRGRQYLLRPGDYRRYHDWGGA
                     DAKVGSLRRVTDLY"
     exon            43..285
                     /gene="CRYGA"
                     /gene_synonym="CRY-g-A; CRYG1; CRYG5"
                     /inference="alignment:Splign:2.1.0"
     exon            286..622
                     /gene="CRYGA"
                     /gene_synonym="CRY-g-A; CRYG1; CRYG5"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atactagatg ctaatcaccc tctgtcaaca accatgggga agatcacctt ctacgaggac
       61 cgagactttc agggtcgctg ctacaattgc atcagtgact gccccaacct gcgggtctac
      121 ttcagccgct gcaactccat ccgagtagac agcggctgct ggatgctcta tgagcgtccc
      181 aattaccagg gccaccagta cttcctgcgc cgaggcaagt accccgacta tcagcactgg
      241 atgggcctca gcgactcggt ccaatcctgc cgtataattc ctcataccag ctcgcacaag
      301 ttaaggctgt acgagagaga tgactaccga ggccttatgt ctgagctcac tgatgactgc
      361 gcctgtgttc cagaactgtt ccgtctccct gagatctatt ccctccacgt actggagggc
      421 tgctgggtcc tctatgaaat gcccaactac cgggggcggc agtatctgct gaggcctggg
      481 gactacagaa ggtaccacga ctgggggggt gcagatgcca aagtcggctc tttgagacgg
      541 gtcaccgatt tgtactaagc tgtgcctgcc ttgttgtgat ccccatagaa acataataaa
      601 tatacaagtt gtgttccctg ca
//
