LOCUS       NM_181538               1119 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens gap junction protein gamma 3 (GJC3), mRNA.
ACCESSION   NM_181538
VERSION     NM_181538.3
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 1119)
  AUTHORS   Javadikooshesh,S., Zaimkohan,H., Pourghorban,P., Bahramim,F. and
            Ebadi,N.
  TITLE     Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in
            GJC2 Gene: A Case Report
  JOURNAL   Iran J Med Sci 46 (6), 493-497 (2021)
   PUBMED   34840390
  REMARK    GeneRIF: Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel
            Mutation in GJC2 Gene: A Case Report.
REFERENCE   2  (bases 1 to 1119)
  AUTHORS   Adadey,S.M., Esoh,K.K., Quaye,O., Amedofu,G.K., Awandare,G.A. and
            Wonkam,A.
  TITLE     GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana
  JOURNAL   Exp Biol Med (Maywood) 245 (15), 1355-1367 (2020)
   PUBMED   32524838
  REMARK    GeneRIF: GJB4 and GJC3 variants in non-syndromic hearing impairment
            in Ghana.
REFERENCE   3  (bases 1 to 1119)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1119)
  AUTHORS   Wong,S.H., Wang,W.H., Chen,P.H., Li,S.Y. and Yang,J.J.
  TITLE     Functional analysis of a nonsyndromic hearing loss-associated
            mutation in the transmembrane II domain of the GJC3 gene
  JOURNAL   Int J Med Sci 14 (3), 246-256 (2017)
   PUBMED   28367085
  REMARK    GeneRIF: Based on these findings, we suggest that p.W77S mutant has
            a dominant negative effect on the formation and function of the gap
            junction. These results give a novel molecular elucidation for the
            mutation of GJC3 in the development of hearing loss.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1119)
  AUTHORS   Hong,H.M., Yang,J.J., Su,C.C., Chang,J.Y., Li,T.C. and Li,S.Y.
  TITLE     A novel mutation in the connexin 29 gene may contribute to
            nonsyndromic hearing loss
  JOURNAL   Hum Genet 127 (2), 191-199 (2010)
   PUBMED   19876648
  REMARK    GeneRIF: Data show that the p.E269D missense mutation resulted in
            accumulation of the Cx29 mutant protein in the endoplasmic
            reticulum rather than in the cytoplasmic membrane.
REFERENCE   6  (bases 1 to 1119)
  AUTHORS   Wang,W.H., Yang,J.J., Lin,Y.C., Yang,J.T., Chan,C.H. and Li,S.Y.
  TITLE     Identification of novel variants in the Cx29 gene of nonsyndromic
            hearing loss patients using buccal cells and restriction fragment
            length polymorphism method
  JOURNAL   Audiol Neurootol 15 (2), 81-87 (2010)
   PUBMED   19657183
  REMARK    GeneRIF: We suggest that the c.[43C-->G(+)230G-->C] compound
            heterozygous variant of Cx29 may be a risk factor for the
            development of hearing loss in Taiwanese.
REFERENCE   7  (bases 1 to 1119)
  AUTHORS   Sargiannidou,I., Ahn,M., Enriquez,A.D., Peinado,A., Reynolds,R.,
            Abrams,C., Scherer,S.S. and Kleopa,K.A.
  TITLE     Human oligodendrocytes express Cx31.3: function and interactions
            with Cx32 mutants
  JOURNAL   Neurobiol Dis 30 (2), 221-233 (2008)
   PUBMED   18353664
  REMARK    GeneRIF: Cx31.3 is localized to the gray matter along small
            myelinated fibers and is co-expressed with Cx32 in
            oligodendrocytes.
REFERENCE   8  (bases 1 to 1119)
  AUTHORS   Kleopa,K.A., Orthmann,J.L., Enriquez,A., Paul,D.L. and Scherer,S.S.
  TITLE     Unique distributions of the gap junction proteins connexin29,
            connexin32, and connexin47 in oligodendrocytes
  JOURNAL   Glia 47 (4), 346-357 (2004)
   PUBMED   15293232
REFERENCE   9  (bases 1 to 1119)
  AUTHORS   Sohl,G., Nielsen,P.A., Eiberger,J. and Willecke,K.
  TITLE     Expression profiles of the novel human connexin genes hCx30.2,
            hCx40.1, and hCx62 differ from their putative mouse orthologues
  JOURNAL   Cell Commun Adhes 10 (1), 27-36 (2003)
   PUBMED   12881038
REFERENCE   10 (bases 1 to 1119)
  AUTHORS   Altevogt,B.M., Kleopa,K.A., Postma,F.R., Scherer,S.S. and Paul,D.L.
  TITLE     Connexin29 is uniquely distributed within myelinating glial cells
            of the central and peripheral nervous systems
  JOURNAL   J Neurosci 22 (15), 6458-6470 (2002)
   PUBMED   12151525
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY297109.1, BC043381.1 and
            AC011904.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_181538.2.
            
            Summary: This gene encodes a gap junction protein. The encoded
            protein, also known as a connexin, plays a role in formation of gap
            junctions, which provide direct connections between neighboring
            cells. Mutations in this gene have been reported to be associated
            with nonsyndromic hearing loss.[provided by RefSeq, Feb 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 :: AY297109.1, AF503615.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312891.3/ ENSP00000325775.2
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-840               AY297109.1         1-840
            841-1116            BC043381.1         485-760
            1117-1119           AC011904.3         9798-9800
FEATURES             Location/Qualifiers
     source          1..1119
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..1119
                     /gene="GJC3"
                     /gene_synonym="CX29; CX30.2; CX31.3; GJE1"
                     /note="gap junction protein gamma 3"
                     /db_xref="GeneID:349149"
                     /db_xref="HGNC:HGNC:17495"
                     /db_xref="MIM:611925"
     CDS             1..840
                     /gene="GJC3"
                     /gene_synonym="CX29; CX30.2; CX31.3; GJE1"
                     /note="connexin 29; connexin-30.2; connexin-31.3; gap
                     junction epsilon-1 protein; gap junction protein, gamma 3,
                     30.2kDa"
                     /codon_start=1
                     /product="gap junction gamma-3 protein precursor"
                     /protein_id="NP_853516.1"
                     /db_xref="CCDS:CCDS34697.1"
                     /db_xref="GeneID:349149"
                     /db_xref="HGNC:HGNC:17495"
                     /db_xref="MIM:611925"
                     /translation="MCGRFLRRLLAEESRRSTPVGRLLLPVLLGFRLVLLAASGPGVY
                     GDEQSEFVCHTQQPGCKAACFDAFHPLSPLRFWVFQVILVAVPSALYMGFTLYHVIWH
                     WELSGKGKEEETLIQGREGNTDVPGAGSLRLLWAYVAQLGARLVLEGAALGLQYHLYG
                     FQMPSSFACRREPCLGSITCNLSRPSEKTIFLKTMFGVSGFCLLFTFLELVLLGLGRW
                     WRTWKHKSSSSKYFLTSESTRRHKKATDSLPVVETKEQFQEAVPGRSLAQEKQRPVGP
                     RDA"
     exon            1..781
                     /gene="GJC3"
                     /gene_synonym="CX29; CX30.2; CX31.3; GJE1"
                     /inference="alignment:Splign:2.1.0"
     exon            782..1119
                     /gene="GJC3"
                     /gene_synonym="CX29; CX30.2; CX31.3; GJE1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1095..1100
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJC3"
                     /gene_synonym="CX29; CX30.2; CX31.3; GJE1"
                     /note="hexamer: AATAAA"
     polyA_site      1119
                     /gene="GJC3"
                     /gene_synonym="CX29; CX30.2; CX31.3; GJE1"
                     /note="major polyA site"
ORIGIN      
        1 atgtgtggca ggttcctgcg gcggctgctg gcggaggaga gccggcgctc cacccccgtg
       61 gggcgcctct tgcttcccgt gctcctggga ttccgccttg tgctgctggc tgccagtggg
      121 cctggagtct atggtgatga gcagagtgaa ttcgtgtgtc acacccagca gccgggctgc
      181 aaggctgcct gcttcgatgc cttccacccc ctctccccgc tgcgtttctg ggtcttccag
      241 gtcatcttgg tggctgtacc cagcgccctc tatatgggtt tcactctgta tcacgtgatc
      301 tggcactggg aattatcagg aaaggggaag gaggaggaga ccctgatcca gggacgggag
      361 ggcaacacag atgtcccagg ggctggaagc ctcaggctgc tctgggctta tgtggctcag
      421 ctgggggctc ggcttgtcct ggagggggca gccctggggt tgcagtacca cctgtatggg
      481 ttccagatgc ccagctcctt tgcatgtcgc cgagaacctt gccttggtag tataacctgc
      541 aatctgtccc gcccctctga gaagaccatt ttcctaaaga ccatgtttgg agtcagcggt
      601 ttctgtctct tgtttacttt tttggagctt gtgcttctgg gtttggggag atggtggagg
      661 acctggaagc acaaatcttc ctcttctaaa tacttcctaa cttcagagag caccagaaga
      721 cacaagaaag caaccgatag cctcccagtg gtggaaacca aagagcaatt tcaagaagca
      781 gttccaggaa gaagcttagc ccaggaaaaa caaagaccag ttggacccag agatgcctga
      841 gttggagatg aactttggcc aactttcctc atcaccatac ttaaaatcct gtccaaggag
      901 gagcttattc accattttct atacatgtga catatgtagc agcataaccg acaactggga
      961 ctgcgctgcc ttgactccac ctctacatac aatgactcag ctaaccagac taataaaagc
     1021 catgtttgca ccattgctca gggaggcatt gctttgggga attattccca gtgtcctcct
     1081 tacttatcgc aagtaataaa atccccctgg gaaatcctc
//
