LOCUS       NM_020989                627 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens crystallin gamma C (CRYGC), mRNA.
ACCESSION   NM_020989
VERSION     NM_020989.4
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 627)
  AUTHORS   Vendra,V.P.R., Ostrowski,C., Clark,R., Dyba,M., Tarasov,S.G. and
            Hejtmancik,J.F.
  TITLE     The Y46D Mutation Destabilizes Dense Packing of the Second Greek
            Key Pair of Human gammaC-Crystallin Causing Congenital Nuclear
            Cataracts
  JOURNAL   Biochemistry 62 (12), 1864-1877 (2023)
   PUBMED   37184593
  REMARK    GeneRIF: The Y46D Mutation Destabilizes Dense Packing of the Second
            Greek Key Pair of Human gammaC-Crystallin Causing Congenital
            Nuclear Cataracts.
REFERENCE   2  (bases 1 to 627)
  AUTHORS   Peng,Y., Zheng,Y., Deng,Z., Zhang,S., Tan,Y., Hu,Z., Tao,L. and
            Luo,Y.
  TITLE     Case Report: A de novo Variant of CRYGC Gene Associated With
            Congenital Cataract and Microphthalmia
  JOURNAL   Front Genet 13, 866246 (2022)
   PUBMED   35719371
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 627)
  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   4  (bases 1 to 627)
  AUTHORS   Fu,C., Xu,J., Yang,X., Chen,X. and Yao,K.
  TITLE     Cataract-causing mutations L45P and Y46D impair the thermal
            stability of gammaC-crystallin
  JOURNAL   Biochem Biophys Res Commun 539, 70-76 (2021)
   PUBMED   33422942
  REMARK    GeneRIF: Cataract-causing mutations L45P and Y46D impair the
            thermal stability of gammaC-crystallin.
REFERENCE   5  (bases 1 to 627)
  AUTHORS   Fu,C., Xu,J., Jia,Z., Yao,K. and Chen,X.
  TITLE     Cataract-causing mutations L45P and Y46D promote gammaC-crystallin
            aggregation by disturbing hydrogen bonds network in the second
            Greek key motif
  JOURNAL   Int J Biol Macromol 167, 470-478 (2021)
   PUBMED   33278449
  REMARK    GeneRIF: Cataract-causing mutations L45P and Y46D promote
            gammaC-crystallin aggregation by disturbing hydrogen bonds network
            in the second Greek key motif.
REFERENCE   6  (bases 1 to 627)
  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 627)
  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   8  (bases 1 to 627)
  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 627)
  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   10 (bases 1 to 627)
  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 BC074954.2 and BU737104.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020989.3.
            
            Summary: This gene encodes a member of the beta/gamma-crystallin
            family of proteins. Crystallins constitute the major proteins of
            vertebrate eye lens and maintain the transparency and refractive
            index of the lens. This gene and several family members are present
            in a gene cluster on chromosome 2. Mutations in this gene have been
            shown to cause multiple types of cataract, including Coppock-like
            cataract and zonular pulverulent cataract, among others. [provided
            by RefSeq, Jan 2015].
            
            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 :: BY795083.2, BC074954.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282141.4/ ENSP00000282141.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-595               BC074954.2         3-597
            596-627             BU737104.1         17-48               c
FEATURES             Location/Qualifiers
     source          1..627
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     gene            1..627
                     /gene="CRYGC"
                     /gene_synonym="CCL; CRYG3; CTRCT2"
                     /note="crystallin gamma C"
                     /db_xref="GeneID:1420"
                     /db_xref="HGNC:HGNC:2410"
                     /db_xref="MIM:123680"
     exon            1..45
                     /gene="CRYGC"
                     /gene_synonym="CCL; CRYG3; CTRCT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..561
                     /gene="CRYGC"
                     /gene_synonym="CCL; CRYG3; CTRCT2"
                     /note="gamma-crystallin 3; gamma-crystallin 2-1"
                     /codon_start=1
                     /product="gamma-crystallin C"
                     /protein_id="NP_066269.1"
                     /db_xref="CCDS:CCDS2379.1"
                     /db_xref="GeneID:1420"
                     /db_xref="HGNC:HGNC:2410"
                     /db_xref="MIM:123680"
                     /translation="MGKITFYEDRAFQGRSYETTTDCPNLQPYFSRCNSIRVESGCWM
                     LYERPNYQGQQYLLRRGEYPDYQQWMGLSDSIRSCCLIPQTVSHRLRLYEREDHKGLM
                     MELSEDCPSIQDRFHLSEIRSLHVLEGCWVLYELPNYRGRQYLLRPQEYRRCQDWGAM
                     DAKAGSLRRVVDLY"
     exon            46..288
                     /gene="CRYGC"
                     /gene_synonym="CCL; CRYG3; CTRCT2"
                     /inference="alignment:Splign:2.1.0"
     exon            289..627
                     /gene="CRYGC"
                     /gene_synonym="CCL; CRYG3; CTRCT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      599..604
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYGC"
                     /gene_synonym="CCL; CRYG3; CTRCT2"
                     /note="hexamer: AATAAA"
     polyA_site      627
                     /gene="CRYGC"
                     /gene_synonym="CCL; CRYG3; CTRCT2"
                     /note="major polyA site"
ORIGIN      
        1 atcacactga actcgcatca tccgtgtcaa ccagccatgg ggaagatcac cttctatgag
       61 gacagggcct tccagggccg cagctacgaa accaccactg actgccccaa cctgcagccg
      121 tatttcagcc gctgcaactc catccgggtg gagagcggct gctggatgct ctatgagcgt
      181 cccaactacc aaggtcaaca atacttgctg cggcgagggg agtaccccga ctaccagcaa
      241 tggatgggcc tcagcgactc catccgctcc tgttgtctca tcccccaaac agtctcccac
      301 aggctgcggc tgtacgagag ggaagaccac aaaggcctca tgatggagct gagtgaagac
      361 tgccccagca tccaggaccg cttccacctc agcgagatcc gttccctcca cgtgctggag
      421 ggctgctggg tcctctacga gctgcccaac taccgggggc ggcaatacct gctgaggccc
      481 caagagtaca ggcggtgcca ggactggggg gccatggatg ctaaggcagg ctctttgcgg
      541 agagtggtgg atttgtatta aaatagctta acactaccaa tttcccattt tggaacctaa
      601 taaatattta gtctgcattg ctggcaa
//
