LOCUS       NM_006891                642 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens crystallin gamma D (CRYGD), mRNA.
ACCESSION   NM_006891
VERSION     NM_006891.4
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 642)
  AUTHORS   Lin,N., Song,H., Zhang,Y., Chen,F., Xu,J., Wu,W., Tian,Q., Luo,C.,
            Yao,K., Hu,L. and Chen,X.
  TITLE     Truncation mutations of CRYGD gene in congenital cataracts cause
            protein aggregation by disrupting the structural stability of
            gammaD-crystallin
  JOURNAL   Int J Biol Macromol 277 (Pt 2), 134292 (2024)
   PUBMED   39084439
  REMARK    GeneRIF: Truncation mutations of CRYGD gene in congenital cataracts
            cause protein aggregation by disrupting the structural stability of
            gammaD-crystallin.
REFERENCE   2  (bases 1 to 642)
  AUTHORS   Kacirani,A., Uralcan,B., Domingues,T.S. and Haji-Akbari,A.
  TITLE     Effect of Pressure on the Conformational Landscape of Human
            gammaD-Crystallin from Replica Exchange Molecular Dynamics
            Simulations
  JOURNAL   J Phys Chem B 128 (20), 4931-4942 (2024)
   PUBMED   38685567
  REMARK    GeneRIF: Effect of Pressure on the Conformational Landscape of
            Human gammaD-Crystallin from Replica Exchange Molecular Dynamics
            Simulations.
REFERENCE   3  (bases 1 to 642)
  AUTHORS   Lin,N., Zhang,Y., Song,X., Xu,J., Luo,C., Tian,Q., Yao,K., Wu,W.,
            Chen,X. and Hu,L.
  TITLE     Cataract-causing mutations S78F and S78P of gammaD-crystallin
            decrease protein conformational stability and drive aggregation
  JOURNAL   Int J Biol Macromol 253 (Pt 4), 126910 (2023)
   PUBMED   37739288
  REMARK    GeneRIF: Cataract-causing mutations S78F and S78P of
            gammaD-crystallin decrease protein conformational stability and
            drive aggregation.
REFERENCE   4  (bases 1 to 642)
  AUTHORS   Wang,K.J., Wang,J.X., Wang,J.D., Li,M., Zhang,J.S., Mao,Y.Y. and
            Wan,X.H.
  TITLE     Congenital coralliform cataract is the predominant consequence of a
            recurrent mutation in the CRYGD gene
  JOURNAL   Orphanet J Rare Dis 18 (1), 200 (2023)
   PUBMED   37480084
  REMARK    GeneRIF: Congenital coralliform cataract is the predominant
            consequence of a recurrent mutation in the CRYGD gene.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 642)
  AUTHORS   Hsueh,S.S., Wang,S.S., Chen,S.H., Wang,C.L., Wu,W.J. and Lin,T.H.
  TITLE     Insights to Human gammaD-Crystallin Unfolding by NMR Spectroscopy
            and Molecular Dynamics Simulations
  JOURNAL   Int J Mol Sci 23 (3), 1591 (2022)
   PUBMED   35163513
  REMARK    GeneRIF: Insights to Human gammaD-Crystallin Unfolding by NMR
            Spectroscopy and Molecular Dynamics Simulations.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 642)
  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 642)
  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   8  (bases 1 to 642)
  AUTHORS   Lubsen,N.H., Renwick,J.H., Tsui,L.C., Breitman,M.L. and
            Schoenmakers,J.G.
  TITLE     A locus for a human hereditary cataract is closely linked to the
            gamma-crystallin gene family
  JOURNAL   Proc Natl Acad Sci U S A 84 (2), 489-492 (1987)
   PUBMED   3025877
REFERENCE   9  (bases 1 to 642)
  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 642)
  AUTHORS   Meakin,S.O., Breitman,M.L. and Tsui,L.C.
  TITLE     Structural and evolutionary relationships among five members of the
            human gamma-crystallin gene family
  JOURNAL   Mol Cell Biol 5 (6), 1408-1414 (1985)
   PUBMED   4033658
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC117338.1, U66583.1,
            EL946552.1 and CD674533.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006891.3.
            
            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 :: BC117338.1, CD676210.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264376.5/ ENSP00000264376.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-101               BC117338.1         66-166
            102-335             U66583.1           51-284
            336-589             EL946552.1         317-570
            590-642             CD674533.1         519-571
FEATURES             Location/Qualifiers
     source          1..642
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     gene            1..642
                     /gene="CRYGD"
                     /gene_synonym="CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4;
                     PCC"
                     /note="crystallin gamma D"
                     /db_xref="GeneID:1421"
                     /db_xref="HGNC:HGNC:2411"
                     /db_xref="MIM:123690"
     exon            1..60
                     /gene="CRYGD"
                     /gene_synonym="CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4;
                     PCC"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..576
                     /gene="CRYGD"
                     /gene_synonym="CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4;
                     PCC"
                     /note="gamma crystallin 4; gamma-D-crystallin"
                     /codon_start=1
                     /product="gamma-crystallin D"
                     /protein_id="NP_008822.2"
                     /db_xref="CCDS:CCDS2378.1"
                     /db_xref="GeneID:1421"
                     /db_xref="HGNC:HGNC:2411"
                     /db_xref="MIM:123690"
                     /translation="MGKITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWM
                     LYEQPNYSGLQYFLRRGDYADHQQWMGLSDSVRSCRLIPHSGSHRIRLYEREDYRGQM
                     IEFTEDCSCLQDRFRFNEIHSLNVLEGSWVLYELSNYRGRQYLLMPGDYRRYQDWGAT
                     NARVGSLRRVIDFS"
     exon            61..303
                     /gene="CRYGD"
                     /gene_synonym="CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4;
                     PCC"
                     /inference="alignment:Splign:2.1.0"
     exon            304..642
                     /gene="CRYGD"
                     /gene_synonym="CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4;
                     PCC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      614..619
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYGD"
                     /gene_synonym="CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4;
                     PCC"
                     /note="hexamer: AATAAA"
     polyA_site      642
                     /gene="CRYGD"
                     /gene_synonym="CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4;
                     PCC"
                     /note="major polyA site"
ORIGIN      
        1 gctcagcgcc gccgccccac cagctcagca ccgccgtgcg cccagccagc catggggaag
       61 atcaccctct acgaggaccg gggcttccag ggccgccact atgaatgcag cagcgaccac
      121 cccaacctgc agccctactt gagccgctgc aactcggcgc gcgtggacag cggctgctgg
      181 atgctctatg agcagcccaa ctactcgggc ctccagtact tcctgcgccg cggcgactat
      241 gccgaccacc agcagtggat gggcctcagc gactcggtcc gctcctgccg cctcatcccc
      301 cactctggct ctcacaggat cagactctat gagagagagg actacagagg ccagatgata
      361 gagttcactg aggactgctc ctgtcttcag gaccgcttcc gcttcaatga aatccactcc
      421 ctcaacgtgc tggagggctc ctgggtcctc tacgagctgt ccaactaccg aggacggcag
      481 tacctgctga tgccagggga ctataggcgc taccaggact ggggggccac gaatgccaga
      541 gtgggctctc tgaggagagt catagatttc tcctgaaata tgtcctcttt tgttgtttct
      601 taatttggaa actaataaaa tattttctgt gtgttcctgg ca
//
