LOCUS       NM_005210                631 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens crystallin gamma B (CRYGB), mRNA.
ACCESSION   NM_005210
VERSION     NM_005210.4
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 631)
  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 631)
  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   3  (bases 1 to 631)
  AUTHORS   Chaudhury,S., Ghosh,P., Parveen,S. and Dasgupta,S.
  TITLE     Glycation of human gammaB-crystallin: A biophysical investigation
  JOURNAL   Int J Biol Macromol 96, 392-402 (2017)
   PUBMED   28013006
  REMARK    GeneRIF: Glycation of human gammaB-crystallin
REFERENCE   4  (bases 1 to 631)
  AUTHORS   Rykov,S.A., Byts,Y.Y., Goncharov,S.V. and Dosenko,V.E.
  TITLE     [ALLELIC VARIANT FREQUENCY OF PROMOTER (G(-47)-->A)
            gamma-CRYSTALLIN GENE AFFECTS THE LEVEL OF ITS EXPRESSION IN
            PLATELETS]
  JOURNAL   Fiziol Zh (1994) 61 (4), 30-34 (2015)
   PUBMED   26552302
  REMARK    GeneRIF: Allelic variant frequency of the gamma-crystallin promoter
            (g(-47) ->a) affects the level of its expression in platelets from
            cataract patients.
REFERENCE   5  (bases 1 to 631)
  AUTHORS   AlFadhli,S., Abdelmoaty,S., Al-Hajeri,A., Behbehani,A. and
            Alkuraya,F.
  TITLE     Novel crystallin gamma B mutations in a Kuwaiti family with
            autosomal dominant congenital cataracts reveal genetic and clinical
            heterogeneity
  JOURNAL   Mol Vis 18, 2931-2936 (2012)
   PUBMED   23288985
  REMARK    GeneRIF: Complex heterogeneous mutations in the gammaB crystallin
            gene have been described resulting in autosomal dominant congenital
            cataracts with three distinct phenotypes (lamellar, anterior polar,
            and complete cataracts) in the same family.
REFERENCE   6  (bases 1 to 631)
  AUTHORS   Hearne,C.M. and Todd,J.A.
  TITLE     Trinucleotide repeat polymorphism at the CRYG1 locus
  JOURNAL   Nucleic Acids Res 19 (19), 5450 (1991)
   PUBMED   1923840
REFERENCE   7  (bases 1 to 631)
  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   8  (bases 1 to 631)
  AUTHORS   den Dunnen,J.T., van Neck,J.W., Cremers,F.P., Lubsen,N.H. and
            Schoenmakers,J.G.
  TITLE     Nucleotide sequence of the rat gamma-crystallin gene region and
            comparison with an orthologous human region
  JOURNAL   Gene 78 (2), 201-213 (1989)
   PUBMED   2777080
REFERENCE   9  (bases 1 to 631)
  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   10 (bases 1 to 631)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016697.8, BY794984.2 and
            BM666147.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005210.3.
            
            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 :: BC117384.1, KT326704.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260988.5/ ENSP00000260988.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AC016697.8         4087-4091           c
            6-553               BY794984.2         16-563
            554-631             BM666147.1         18-95               c
FEATURES             Location/Qualifiers
     source          1..631
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     gene            1..631
                     /gene="CRYGB"
                     /gene_synonym="CRYG2; CTRCT39"
                     /note="crystallin gamma B"
                     /db_xref="GeneID:1419"
                     /db_xref="HGNC:HGNC:2409"
                     /db_xref="MIM:123670"
     exon            1..47
                     /gene="CRYGB"
                     /gene_synonym="CRYG2; CTRCT39"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..566
                     /gene="CRYGB"
                     /gene_synonym="CRYG2; CTRCT39"
                     /note="crystallin, gamma 1-2"
                     /codon_start=1
                     /product="gamma-crystallin B"
                     /protein_id="NP_005201.2"
                     /db_xref="CCDS:CCDS2380.1"
                     /db_xref="GeneID:1419"
                     /db_xref="HGNC:HGNC:2409"
                     /db_xref="MIM:123670"
                     /translation="MGKITFYEDRAFQGRSYECTTDCPNLQPYFSRCNSIRVESGCWM
                     IYERPNYQGHQYFLRRGEYPDYQQWMGLSDSIRSCCLIPPHSGAYRMKIYDRDELRGQ
                     MSELTDDCISVQDRFHLTEIHSLNVLEGSWILYEMPNYRGRQYLLRPGEYRRFLDWGA
                     PNAKVGSLRRVMDLY"
     exon            48..290
                     /gene="CRYGB"
                     /gene_synonym="CRYG2; CTRCT39"
                     /inference="alignment:Splign:2.1.0"
     exon            291..631
                     /gene="CRYGB"
                     /gene_synonym="CRYG2; CTRCT39"
                     /inference="alignment:Splign:2.1.0"
     regulatory      603..608
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYGB"
                     /gene_synonym="CRYG2; CTRCT39"
                     /note="hexamer: AATAAA"
     polyA_site      631
                     /gene="CRYGB"
                     /gene_synonym="CRYG2; CTRCT39"
                     /note="major polyA site"
ORIGIN      
        1 acacagcaac cagaaaacat ctgctcactt ccttcaaaat gggaaagatc accttctacg
       61 aggacagggc cttccagggc cgcagctacg aatgcaccac tgactgcccc aacctacaac
      121 cctatttcag ccgctgcaac tccatcaggg tggagagcgg ctgctggatg atctatgagc
      181 gccccaacta ccagggccac cagtacttcc tgcggcgtgg ggagtaccct gactaccagc
      241 aatggatggg cctcagcgac tccatccgct cctgctgcct catccccccg cactctggcg
      301 cttacagaat gaagatctac gacagagatg aattgagggg acaaatgtca gagctcacag
      361 acgactgtat ctctgttcag gaccgcttcc acctcactga aattcactcc ctcaatgtgc
      421 tggagggcag ctggatcctc tatgagatgc ccaactacag ggggaggcag tatctgctga
      481 ggccggggga gtacaggagg tttcttgatt ggggggctcc aaatgccaaa gttggctctc
      541 ttagacgagt catggatttg tactgaagta tttacgtttt ccacttttct cctttaaaat
      601 ctaataaaat atttagcttg tgtttctggc a
//
