LOCUS       NM_021954               5214 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens gap junction protein alpha 3 (GJA3), mRNA.
ACCESSION   NM_021954
VERSION     NM_021954.4
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 5214)
  AUTHORS   Goyal,S., Singh,R., Singh,J.R. and Vanita,V.
  TITLE     Novel and known variants in GJA3 and LIM2 in congenital cataract
            families from North India
  JOURNAL   BMC Genomics 25 (1), 31 (2024)
   PUBMED   38178039
  REMARK    GeneRIF: Novel and known variants in GJA3 and LIM2 in congenital
            cataract families from North India.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5214)
  AUTHORS   Leon-Fuentes,I.M., Salgado-Gil,M.G., Novoa,M.S. and Retamal,M.A.
  TITLE     Connexins in Cancer, the Possible Role of Connexin46 as a Cancer
            Stem Cell-Determining Protein
  JOURNAL   Biomolecules 13 (10), 1460 (2023)
   PUBMED   37892142
  REMARK    GeneRIF: Connexins in Cancer, the Possible Role of Connexin46 as a
            Cancer Stem Cell-Determining Protein.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5214)
  AUTHORS   Boese,E.A., Drack,A.V., Roos,B.R., Alward,W.L.M., Tollefson,M.R.,
            Schnieders,M.J., Scheetz,T.E., Boldt,H.C., Stone,E.M. and
            Fingert,J.H.
  TITLE     GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts
            and Glaucoma Following Cataract Surgery
  JOURNAL   JAMA Ophthalmol 141 (9), 872-879 (2023)
   PUBMED   37589989
  REMARK    GeneRIF: GJA3 Genetic Variation and Autosomal Dominant Congenital
            Cataracts and Glaucoma Following Cataract Surgery.
REFERENCE   4  (bases 1 to 5214)
  AUTHORS   Acuna,R.A., Varas-Godoy,M., Herrera-Sepulveda,D. and Retamal,M.A.
  TITLE     Connexin46 Expression Enhances Cancer Stem Cell and
            Epithelial-to-Mesenchymal Transition Characteristics of Human
            Breast Cancer MCF-7 Cells
  JOURNAL   Int J Mol Sci 22 (22), 12604 (2021)
   PUBMED   34830485
  REMARK    GeneRIF: Connexin46 Expression Enhances Cancer Stem Cell and
            Epithelial-to-Mesenchymal Transition Characteristics of Human
            Breast Cancer MCF-7 Cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5214)
  AUTHORS   Gong,X.D., Wang,Y., Hu,X.B., Zheng,S.Y., Fu,J.L., Nie,Q., Wang,L.,
            Hou,M., Xiang,J.W., Xiao,Y., Gao,Q., Bai,Y.Y., Liu,Y.Z. and Li,D.W.
  TITLE     Aging-dependent loss of GAP junction proteins Cx46 and Cx50 in the
            fiber cells of human and mouse lenses accounts for the diminished
            coupling conductance
  JOURNAL   Aging (Albany NY) 13 (13), 17568-17591 (2021)
   PUBMED   34226295
  REMARK    GeneRIF: Aging-dependent loss of GAP junction proteins Cx46 and
            Cx50 in the fiber cells of human and mouse lenses accounts for the
            diminished coupling conductance.
REFERENCE   6  (bases 1 to 5214)
  AUTHORS   Gong,X., Li,E., Klier,G., Huang,Q., Wu,Y., Lei,H., Kumar,N.M.,
            Horwitz,J. and Gilula,N.B.
  TITLE     Disruption of alpha3 connexin gene leads to proteolysis and
            cataractogenesis in mice
  JOURNAL   Cell 91 (6), 833-843 (1997)
   PUBMED   9413992
REFERENCE   7  (bases 1 to 5214)
  AUTHORS   Mackay,D., Ionides,A., Berry,V., Moore,A., Bhattacharya,S. and
            Shiels,A.
  TITLE     A new locus for dominant 'zonular pulverulent' cataract, on
            chromosome 13
  JOURNAL   Am J Hum Genet 60 (6), 1474-1478 (1997)
   PUBMED   9199569
REFERENCE   8  (bases 1 to 5214)
  AUTHORS   Hsieh,C.L., Kumar,N.M., Gilula,N.B. and Francke,U.
  TITLE     Distribution of genes for gap junction membrane channel proteins on
            human and mouse chromosomes
  JOURNAL   Somat Cell Mol Genet 17 (2), 191-200 (1991)
   PUBMED   1849321
REFERENCE   9  (bases 1 to 5214)
  AUTHORS   Willecke,K., Jungbluth,S., Dahl,E., Hennemann,H., Heynkes,R. and
            Grzeschik,K.H.
  TITLE     Six genes of the human connexin gene family coding for gap
            junctional proteins are assigned to four different human
            chromosomes
  JOURNAL   Eur J Cell Biol 53 (2), 275-280 (1990)
   PUBMED   1964417
REFERENCE   10 (bases 1 to 5214)
  AUTHORS   Rosenberg,A.M. and Gole,G.A.
  TITLE     Morning Glory Syndrome: a report of two cases
  JOURNAL   Aust J Ophthalmol 9 (4), 263-265 (1981)
   PUBMED   7342922
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138688.27, DR003755.1 and
            BF726530.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_021954.3.
            
            Summary: The protein encoded by this gene is a connexin and is a
            component of lens fiber gap junctions. Defects in this gene are a
            cause of zonular pulverulent cataract type 3 (CZP3). [provided by
            RefSeq, Jan 2010].
            
            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 :: DR003755.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000241125.4/ ENSP00000241125.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AL138688.27        86578-86585         c
            9-659               DR003755.1         7-657
            660-4812            AL138688.27        64190-68342         c
            4813-5214           BF726530.1         17-418              c
FEATURES             Location/Qualifiers
     source          1..5214
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.11"
     gene            1..5214
                     /gene="GJA3"
                     /gene_synonym="CTRCT14; CX46; CZP3"
                     /note="gap junction protein alpha 3"
                     /db_xref="GeneID:2700"
                     /db_xref="HGNC:HGNC:4277"
                     /db_xref="MIM:121015"
     exon            1..163
                     /gene="GJA3"
                     /gene_synonym="CTRCT14; CX46; CZP3"
                     /inference="alignment:Splign:2.1.0"
     exon            164..5214
                     /gene="GJA3"
                     /gene_synonym="CTRCT14; CX46; CZP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             181..1488
                     /gene="GJA3"
                     /gene_synonym="CTRCT14; CX46; CZP3"
                     /note="connexin-46; gap junction alpha 3; gap junction
                     protein, alpha 3, 46kDa"
                     /codon_start=1
                     /product="gap junction alpha-3 protein"
                     /protein_id="NP_068773.2"
                     /db_xref="CCDS:CCDS9289.1"
                     /db_xref="GeneID:2700"
                     /db_xref="HGNC:HGNC:4277"
                     /db_xref="MIM:121015"
                     /translation="MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDV
                     WGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWALQIIFVSTPTLIYLGHVLHIVRM
                     EEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFE
                     VGFIAGQYFLYGFELKPLYRCDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLN
                     MLEIYHLGWKKLKQGVTSRLGPDASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTA
                     APLGQARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHHLLMTEQNWANQAAE
                     RQPPALKAYPAASTPAAPSPVGSSSPPLAHEAEAGAAPLLLDGSGSSLEGSALAGTPE
                     EEEQAVTTAAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI"
     regulatory      5191..5196
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJA3"
                     /gene_synonym="CTRCT14; CX46; CZP3"
                     /note="hexamer: AATAAA"
     polyA_site      5214
                     /gene="GJA3"
                     /gene_synonym="CTRCT14; CX46; CZP3"
                     /note="major polyA site"
ORIGIN      
        1 gcacactggg gctgcaggga tggcgatcag ggcggggagg tcgggccctg gcgcggggcg
       61 cacgcgtgaa gcagcaccgc acgtgtgaaa ggaattcttt tcagagcggc cgggagccct
      121 gctccggagg aacgcacccg ggtcgccgcc gcggcagagc ggggttagga atctgaagca
      181 atgggcgact ggagctttct gggaagactc ttagaaaatg cacaggagca ctccacggtc
      241 atcggcaagg tttggctgac cgtgctgttc atcttccgca tcttggtgct gggggccgcg
      301 gcggaggacg tgtggggcga tgagcagtca gacttcacct gcaacaccca gcagccgggc
      361 tgcgagaacg tctgctacga cagggccttc cccatctccc acatccgctt ctgggcgctg
      421 cagatcatct tcgtgtccac gcccaccctc atctacctgg gccacgtgct gcacatcgtg
      481 cgcatggaag agaagaagaa agagagggag gaggaggagc agctgaagag agagagcccc
      541 agccccaagg agccaccgca ggacaatccc tcgtcgcggg acgaccgcgg cagggtgcgc
      601 atggccgggg cgctgctgcg gacctacgtc ttcaacatca tcttcaagac gctgttcgag
      661 gtgggcttca tcgccggcca gtactttctg tacggcttcg agctgaagcc gctctaccgc
      721 tgcgaccgct ggccctgccc caacacggtg gactgcttca tctccaggcc cacggagaag
      781 accatcttca tcatcttcat gctggcggtg gcctgcgcgt ccctgctgct caacatgctg
      841 gagatctacc acctgggctg gaagaagctc aagcagggcg tgaccagccg cctcggcccg
      901 gacgcctccg aggccccgct ggggacagcc gatcccccgc ccctgccccc cagctcccgg
      961 ccgcccgccg ttgccatcgg gttcccaccc tactatgcgc acaccgctgc gcccctggga
     1021 caggcccgcg ccgtgggcta ccccggggcc ccgccaccag ccgcggactt caaactgcta
     1081 gccctgaccg aggcgcgcgg aaagggccag tccgccaagc tctacaacgg ccaccaccac
     1141 ctgctgatga ctgagcagaa ctgggccaac caggcggccg agcggcagcc cccggcgctc
     1201 aaggcttacc cggcagcgtc cacgcctgca gcccccagcc ccgtcggcag cagctccccg
     1261 ccactcgcgc acgaggctga ggcgggcgcg gcgcccctgc tgctggatgg gagcggcagc
     1321 agtctggagg ggagcgccct ggcagggacc cccgaggagg aggagcaggc cgtgaccacc
     1381 gcggcccaga tgcaccagcc gcccttgccc ctcggagacc caggtcgggc cagcaaggcc
     1441 agcagggcca gcagcgggcg ggccagaccg gaggacttgg ccatctagtg cccgggtgcc
     1501 tgcctccaga cagctgtgta gtgatctttt tcttagaaac caaaaccaaa gtgcacttcc
     1561 caccagcaga tagaacctga aagtcccagg aggtgggagc gactggagtc ccaggaggtg
     1621 gacgatggag gagagatcag gtttccgtgt tcaatgcttg ctgttcttag cactgtgagt
     1681 tacagtgggg ataactccca ctttctgagt ttgggggtgg cggggacaag ggttgtgggc
     1741 ctttaagatc ttcacagcag cccagaaatc tggtcgctga gggctgtctc tgggggtaac
     1801 tgttctgtag tggtaaagca acaggtatcc tgcagtccct ttagctcctg ggcaattggg
     1861 tttgctattc ctaagctctc cagagcctct gggcggccca gagggtctta gctctgggcc
     1921 agagcactta gctctatctc tttgatactt ttaacttaga gttgaatttc atttgggata
     1981 tttgccaaac tgcactaaaa aaagatttac agcaagtcta tgtagtgtca tttgagtttc
     2041 cgaaattgca tgtgaagccc aggatatcaa gcttcaggcc tcatgacaag tgacaaagag
     2101 cagttgccct ccagaggcag gctcagtggg caagggcccc agaggttgct ggcagaaggc
     2161 aggtggaaac gcagccacgc ctgaggccat ttttaaacag ttgaggaaat tgacataaaa
     2221 gtgtgtcggg tatgccgtag gtatttattt tctaaatgat tattttgtgc tttgaatggt
     2281 gcagctatgc ctattttctc ccactttctt tcaggaaaaa tgaaagaaaa atagtgtttt
     2341 tctttcttta aatactgtta gaatgattgc tgaccaagac agtgctaatt tgccctaatg
     2401 catgctacta gcatctttac taaagatttt gaactttctt gtaaaagaaa ttctttaatt
     2461 tcatgagtca cctaattata atgagaatgt attatataaa acaaaagcag gggaaagttt
     2521 taagtgcatt caaatagaag ttctgaagat tttgaatggg aagtgaaaag tgaactactg
     2581 ttgccaggaa aattatttat acagatgaat ctatgacaat ctacactttt aaaaagtaca
     2641 gaataaaaca cttcaagctt cctaatcatt ctttgtgggc agcctgtttg ctttctccag
     2701 tgtaaataat ataagtgtct ggggatccct gcctggggga gggcgcgtgc tcatgcaggc
     2761 tgtatgcccc attctgcctc cacaccagag ctgtcctgac agggaaggct atttatgtgt
     2821 gtgggcatgg ctggaagacg gcagaatttt ctgtcctgca cacacagctg tagtatcttg
     2881 gtcaccattt gtttataaaa tgaacgatgg tcatgttgag cctgtttcta ctcacacttt
     2941 tcacctccaa cttctactga gtatcattag cccttgttca gcgagaccaa tgtaatacat
     3001 ttctttttat aaattaactt ctcgatgatg catttgggac cacactccaa acatactttc
     3061 tgttttctat cataaagggt gctccactaa caatctgatg aaaggaatgc aatttccaag
     3121 tctcagattc ttgcatgcaa ctagtttttc atgtcagtca aacacaaaga atttgttagt
     3181 acattctgct tgctgtagga tgcactggac aggctcctag gcttgaaaaa tgctaacttt
     3241 tccatacgtc tcctcagaga ctttctcaac cagattgaca agagagaaat tagccctttg
     3301 gaaaactgtg agtgactttc tcactcctct ccaggctggt gcataactac agccattcta
     3361 gatgcataac ttctctccga agttcactca ttacatgcag tgtatgccat aggcctaggg
     3421 cagcaggact tagttcttgt gagtgataag ggctgctaga agatcctagt gtgagaagca
     3481 ttccgataaa aagctttggc cattttagaa aatgcaatag caatcatcca agagcacaag
     3541 tacagctcaa gtacaagtgg atgtcaatac ttggttcttt aagttctacc ataataaatg
     3601 ttcataacag taacaagctt cttatttacc cacaatttga ttttgagtgg ggttggagat
     3661 gagcatgaga actcaaattg tatctagttt ttacatttta aaattgaatt tagtcacaat
     3721 atgtttatgg aaatgccagt attgtaccat tgaccatagt ctagtgggtc catttagagt
     3781 ggataggagt gtagaattag attcacctac ttgaaaatca ctaatctata aagaagtgag
     3841 gttttgcaat agaacagtgc ctgtggtgtt ttttcaggtt agcatactga tttcagttca
     3901 tgtaagaaat gaacgcatgt ttcacatcct tttgctcttt gaggtatcca tgattctaaa
     3961 ggctgggtcc ttctctctca ggcagtgtgg aattgttctc tactcaacta gtcctttaag
     4021 acattgaaac atgcaataaa aatagaaatt gcctctctct gtgggcaaga ttccagacct
     4081 atttttttct agcctggaaa tttcactgaa actattttgt tcttgattca ttagaaagtt
     4141 ttaaaaaatc tctaagccta ttttaaaact caaatgctat acctatagca tttgagtatt
     4201 atatttacat acatggtttt taagctgctg tatacaatta cttcttatat ccctgttttt
     4261 ataaaatgtt aaacatcact atagttacag taccaaaaat cattttttaa attctaaaac
     4321 tattacttat attatcactc actttctcct ttttaaactt ttaatggtta ttcttgtatt
     4381 ttttaataaa attgacacga ataaatcctt aaatttacaa aagaaaaata gcaagccagc
     4441 atctttctca tttatcctgg atttcttcgg ctctggacaa gtaagtggat aggtcataga
     4501 attcctacac aagaatacct ggactaataa ctatgaatat aatttaaaca tcactttaca
     4561 aaaaattaat ccaatagggt ttaggtctcc tttcacgtta ggctttttaa aaagtattat
     4621 taacactttc tttattttgt attactgaat aaactccttt tttctgaatt ttttgaactt
     4681 ctgatatttg taacactaat tcatgaatct ccaccaaaat aaatacttat agagagtatt
     4741 gcatgattta agagagtaaa tgtgttttcc aaagatgaat agagtcctgc caccatcacc
     4801 acccgccacc cctacaaatt gaggatatcc taaataacct ttaatatagc atatggacat
     4861 tgtacattta aggtcaggga aggcactttt cttcctaatt ttatattaca gtgcaaatct
     4921 tgggttgact cactttaagg tttctgactg cccaaaatat tttttcccct ttacgttaca
     4981 gaacattata ataaggcaaa caagttaggg atttgaataa cactcaaagc aacaaactgt
     5041 ttccagaaag taccatattt gaagctgttt ggtgtgtaaa tgttcattta gctcatgtat
     5101 ttacaaaact cttactaaaa cttaattttt gtgccataac agtgtctttc ctggattaca
     5161 ttgtaactgg aagtaagcat tttctaaaat aataaaagtg cccttaagtt taaa
//
