LOCUS       NM_152219               4086 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens gap junction protein delta 3 (GJD3), mRNA.
ACCESSION   NM_152219
VERSION     NM_152219.4
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 4086)
  AUTHORS   Mannino,G., Vicario,N., Parenti,R., Giuffrida,R. and Lo Furno,D.
  TITLE     Connexin expression decreases during adipogenic differentiation of
            human adipose-derived mesenchymal stem cells
  JOURNAL   Mol Biol Rep 47 (12), 9951-9958 (2020)
   PUBMED   33141287
  REMARK    GeneRIF: Connexin expression decreases during adipogenic
            differentiation of human adipose-derived mesenchymal stem cells.
REFERENCE   2  (bases 1 to 4086)
  AUTHORS   Kreuzberg,M.M., Liebermann,M., Segschneider,S., Dobrowolski,R.,
            Dobrzynski,H., Kaba,R., Rowlinson,G., Dupont,E., Severs,N.J. and
            Willecke,K.
  TITLE     Human connexin31.9, unlike its orthologous protein connexin30.2 in
            the mouse, is not detectable in the human cardiac conduction system
  JOURNAL   J Mol Cell Cardiol 46 (4), 553-559 (2009)
   PUBMED   19168070
  REMARK    GeneRIF: Cx31.9 protein, unlike its counterpart in the mouse, is
            not expressed in detectable quantities and is thus unlikely to
            contribute to the impulse generation and conduction system or the
            working myocardium of the human heart.
REFERENCE   3  (bases 1 to 4086)
  AUTHORS   Gemel,J., Lin,X., Collins,R., Veenstra,R.D. and Beyer,E.C.
  TITLE     Cx30.2 can form heteromeric gap junction channels with other
            cardiac connexins
  JOURNAL   Biochem Biophys Res Commun 369 (2), 388-394 (2008)
   PUBMED   18291099
  REMARK    GeneRIF: Our data suggest that connexin30.2 can form heteromers
            with the other cardiac connexins.
REFERENCE   4  (bases 1 to 4086)
  AUTHORS   Unsworth,H.C., Aasen,T., McElwaine,S. and Kelsell,D.P.
  TITLE     Tissue-specific effects of wild-type and mutant connexin 31: a role
            in neurite outgrowth
  JOURNAL   Hum Mol Genet 16 (2), 165-172 (2007)
   PUBMED   17142249
  REMARK    GeneRIF: Exogenous Cx31 expression induced neurite outgrowth in
            human neuronal cell lines, but not differentiation in primary human
            keratinocytes.
REFERENCE   5  (bases 1 to 4086)
  AUTHORS   Bukauskas,F.F., Kreuzberg,M.M., Rackauskas,M., Bukauskiene,A.,
            Bennett,M.V., Verselis,V.K. and Willecke,K.
  TITLE     Properties of mouse connexin 30.2 and human connexin 31.9
            hemichannels: implications for atrioventricular conduction in the
            heart
  JOURNAL   Proc Natl Acad Sci U S A 103 (25), 9726-9731 (2006)
   PUBMED   16772377
  REMARK    GeneRIF: Hemichannels formed of mCx30.2 and hCx31.9 may slow
            propagation of excitation in the sinoatrial and atrioventricular
            nodes by shortening the space constant and depolarizing the
            excitable membrane
REFERENCE   6  (bases 1 to 4086)
  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
  REMARK    GeneRIF: expression patterns differ from mouse orthologs [Cx30.2;
            Cx40.1]
REFERENCE   7  (bases 1 to 4086)
  AUTHORS   Nielsen,P.A., Beahm,D.L., Giepmans,B.N., Baruch,A., Hall,J.E. and
            Kumar,N.M.
  TITLE     Molecular cloning, functional expression, and tissue distribution
            of a novel human gap junction-forming protein, connexin-31.9.
            Interaction with zona occludens protein-1
  JOURNAL   J Biol Chem 277 (41), 38272-38283 (2002)
   PUBMED   12154091
  REMARK    GeneRIF: Connexin 31.9 represents a novel connexin gene that in
            vivo generates a protein with unique voltage gating properties.
REFERENCE   8  (bases 1 to 4086)
  AUTHORS   White,T.W., Srinivas,M., Ripps,H., Trovato-Salinaro,A.,
            Condorelli,D.F. and Bruzzone,R.
  TITLE     Virtual cloning, functional expression, and gating analysis of
            human connexin31.9
  JOURNAL   Am J Physiol Cell Physiol 283 (3), C960-C970 (2002)
   PUBMED   12176752
REFERENCE   9  (bases 1 to 4086)
  AUTHORS   Belluardo,N., White,T.W., Srinivas,M., Trovato-Salinaro,A.,
            Ripps,H., Mudo,G., Bruzzone,R. and Condorelli,D.F.
  TITLE     Identification and functional expression of HCx31.9, a novel gap
            junction gene
  JOURNAL   Cell Commun Adhes 8 (4-6), 173-178 (2001)
   PUBMED   12064584
  REMARK    GeneRIF: Results describe the identification of a novel human gap
            junction gene that encodes a protein designated HCx31.9 (connexin
            31.9).
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC080112.15.
            
            On May 17, 2019 this sequence version replaced NM_152219.3.
            
            Summary: This gene is a member of the large family of connexins
            that are required for the formation of gap junctions. Six connexin
            monomers form a hemichannel, or connexon, on the cell surface. This
            connexon can interact with a connexon from a neighboring cell, thus
            forming a channel linking the cytoplasm of the 2 cells. [provided
            by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: DRR138518.655719.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000578689.2/ ENSP00000463752.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-44                AC080112.15        58961-59004
            45-4086             AC080112.15        59005-63046
FEATURES             Location/Qualifiers
     source          1..4086
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..4086
                     /gene="GJD3"
                     /gene_synonym="Cx30.2; CX31.9; GJA11; GJC1"
                     /note="gap junction protein delta 3"
                     /db_xref="GeneID:125111"
                     /db_xref="HGNC:HGNC:19147"
                     /db_xref="MIM:607425"
     exon            1..4086
                     /gene="GJD3"
                     /gene_synonym="Cx30.2; CX31.9; GJA11; GJC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             923..1807
                     /gene="GJD3"
                     /gene_synonym="Cx30.2; CX31.9; GJA11; GJC1"
                     /note="gap junction alpha-11 protein; connexin-31.9; gap
                     junction chi-1 protein; gap junction protein, delta 3,
                     31.9kDa"
                     /codon_start=1
                     /product="gap junction delta-3 protein"
                     /protein_id="NP_689343.3"
                     /db_xref="CCDS:CCDS58547.1"
                     /db_xref="GeneID:125111"
                     /db_xref="HGNC:HGNC:19147"
                     /db_xref="MIM:607425"
                     /translation="MGEWAFLGSLLDAVQLQSPLVGRLWLVVMLIFRILVLATVGGAV
                     FEDEQEEFVCNTLQPGCRQTCYDRAFPVSHYRFWLFHILLLSAPPVLFVVYSMHRAGK
                     EAGGAEAAAQCAPGLPEAQCAPCALRARRARRCYLLSVALRLLAELTFLGGQALLYGF
                     RVAPHFACAGPPCPHTVDCFVSRPTEKTVFVLFYFAVGLLSALLSVAELGHLLWKGRP
                     RAGERDNRCNRAHEEAQKLLPPPPPPPPPPALPSRRPGPEPCAPPAYAHPAPASLREC
                     GSGRGKASPATGRRDLAI"
     regulatory      4058..4063
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJD3"
                     /gene_synonym="Cx30.2; CX31.9; GJA11; GJC1"
                     /note="hexamer: ATTAAA"
     regulatory      4066..4071
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJD3"
                     /gene_synonym="Cx30.2; CX31.9; GJA11; GJC1"
                     /note="hexamer: AGTAAA"
     polyA_site      4081
                     /gene="GJD3"
                     /gene_synonym="Cx30.2; CX31.9; GJA11; GJC1"
     polyA_site      4086
                     /gene="GJD3"
                     /gene_synonym="Cx30.2; CX31.9; GJA11; GJC1"
                     /note="major polyA site"
ORIGIN      
        1 agccatcctg tcctgtcctc catcctggcc aaatccgaaa gggaaaatga aagagggagc
       61 aggaggcgcc ggtcccagcc acctcccaag gtccctggct cagctctgac accccagtcc
      121 cggccccagg gtgagtgggg ttgggtggcg gtttaggggc accaggggcg tgtggggacc
      181 tgtgtaagtg tggggtgggg aggatctcag gagatgtgga ggctggaggc acaggaggcc
      241 agggaggagg gagaagcctg gcgtcgcact cccaccacgc tggggtagga gggcagggac
      301 acctccgaca aaggaccctg tgagagttat gaaagcggag ttgcctctgt accagccccc
      361 caccctgaga ggagttcact gcagtaaaaa tggtgagaga aatggtgggc caagaaagga
      421 gtggtctcgc tgcctctgcc actcccactc ctcccatggg caccaaattg ggtctagcgt
      481 ctcgggttcg aggctccact cttcccacag catccttgac agctaagggc accgctgggt
      541 ttccgcttcc gaaaccaggc aagtcagggg ctggtccagc tgatctccaa ggtccttcct
      601 aagaatctgg gatctggagg atcccagggt cgaacggaga cggctcaggg ggtgcggcta
      661 aaatgcaaat gggggatcct ccccagcacc catcggtccc aaagagaagg taacccatag
      721 ctgagcgtcg cctgctcccc tcgggccctc ccgtggccct ccgtttcata ctggtctcat
      781 cgctaaaccc gggcctctcc tacctcacga ctcaccctga agtcagagaa ggtccaacgg
      841 accccacccc gataggcttg gaaggggcag gggtccctga cttgccccat cccctgactc
      901 cccgccccgc gtccccagcg ccatggggga gtgggcgttc ctgggctcgc tgctggacgc
      961 cgtgcagctg cagtcgccgc tcgtgggccg cctctggctg gtggtcatgc tgatcttccg
     1021 catcctggtg ctggccacgg tgggcggcgc cgtgttcgag gacgagcaag aggagttcgt
     1081 gtgcaacacg ctgcagccgg gctgtcgcca gacctgctac gaccgcgcct tcccggtctc
     1141 ccactaccgc ttctggctct tccacatcct gctgctctcg gcgcccccgg tgctgttcgt
     1201 cgtctactcc atgcaccggg caggcaagga ggcgggcggc gctgaggcgg cggcgcagtg
     1261 cgcccccgga ctgcccgagg cccagtgcgc gccgtgcgcc ctgcgcgccc gccgcgcgcg
     1321 ccgctgctac ctgctgagcg tggcgctgcg cctgctggcc gagctgacct tcctgggcgg
     1381 ccaggcgctg ctctacggct tccgcgtggc cccgcacttc gcgtgcgccg gtccgccctg
     1441 cccgcacacg gtcgactgct tcgtgagccg gcccaccgag aagaccgtct tcgtgctctt
     1501 ctatttcgcg gtggggctgc tgtcggcgct gctcagcgta gccgagctgg gccacctgct
     1561 ctggaagggc cgcccgcgcg ccggggagcg tgacaaccgc tgcaaccgtg cacacgaaga
     1621 ggcgcagaag ctgctcccgc cgccgccgcc gccacctccg ccaccggccc tgccctcccg
     1681 gcgccccggc cccgagccgt gcgccccgcc ggcctatgcg cacccggcgc cggccagcct
     1741 ccgcgagtgc ggcagcggcc gcggcaaggc gtcaccggcc accggccgcc gagatctggc
     1801 catctagggg cgggcaccgc ctcgcgcgga ctggacggcg agggccggac cccgccacct
     1861 ccgcccgcac cgcagaagcc ggaagctgct tccaccagag ctgtcgcggg acctgccccg
     1921 gcaggagacg cgttgtgggg acggcccgcg ggcggcatcg cacttgcctc gtactgcctc
     1981 ccagtggctg ccggcggcac ctggggcagg ccgggctggg ggcggagaat gaactcaggc
     2041 aggtcctgga tgccaccacc caggtggaaa ggaaggagac caggaccctg agagagagtg
     2101 gacccgaggg ggagaacaga gcggaaggtg gagagtggtt gttttactgg ggacaaaaac
     2161 aactgtgatg ccagcattct caggcactct ctgtgttcag agagagagtg gtccccctgt
     2221 gggctctctg cgagtgtgca tacacggaca cataagcact gtgagctgtg tgcacgcgca
     2281 cctgtacacc ctgtgtgagc gctgtgcatg tgcgcgcatg tgtacaccct gcgtgaggcc
     2341 cacttgtgca cacagacaca cgtaaccctc ccgggtgagc tgtgtgcaca tgcacacaga
     2401 aacatatgcc ccttgagagc tgtgtactca catccctgtg agctttgtgt gagtgcattg
     2461 tgcacacacg cacatgtcca ttctgtgtgg gctgcgtgtg cacacctgta cacagaaaca
     2521 tccttgtgcg ctatgtgtgc atgtgtacat ccggcgtgac ctctgtgtgt gcacgcgtgt
     2581 gtgtgtgatc tctgatatgc actgcggggg tggccaggat ccgatgccag ctgcagccac
     2641 aatggctccc tccctaccac cctaacccag cccacctgcc agggcatcac aggaggtctg
     2701 tccccccctc ccaagagacc ccgcccaggg agggaagagg aggagaggct ccctttcccc
     2761 gggcaggcct caatcctcgg gagcctatga gcaacatcct cacagtaccc cttgtggcga
     2821 ggcgggggct gggcgctttc atggaggtgg ggtgggggtg ggcggcgggc cagagggcaa
     2881 cccagacgtg tgttatgcct ccctcctcca tcttcatcct ccccgccgct actgctcccc
     2941 caggctataa acgggaaagt cccttctgtc ctcaggagaa agctcccaaa acacacgcgc
     3001 tcccggccct gccttccctt ccaaccaccc ccttcttcct acttgcgggc attcgaagag
     3061 ctgctgccta tgcagcgcat ccccctcctg tgtctcccct cccgtctgcc ctcccccttc
     3121 accagccagt gggctgctct ccataagatc acccaggacc taagcgagaa atccaggggc
     3181 cgtcatcgga ctgcaccttg cgggcctcac cgcatcctgc ctaccaggct gtgcgttccc
     3241 cgccatcacc ccaccctgtc cttctgagtt cctggcgtct ttctcagctc tcctgtgccc
     3301 cacacagcag tgggaggtgt ttctgaatag cgccccccac ttaaacccgg gactgagggc
     3361 agcacccctg ccctcagggt gagtcaagcg ccttcacaaa gcttccttct gaagccctgc
     3421 ccctgtcagg ccttcgactc cacagcaccg gcttccaggt gtgctcagaa ccatagggaa
     3481 ttttctcttc taacaagcac cagacctgct tgctgccaag cgtttgaacg tgctgttcct
     3541 ttgcccagag tagccgctgc ttcctgcagc cttctcctcc cctagctaat gcccacccac
     3601 ctattgttgt cacttgggaa gaaaacagac accttcaagg agagggctcc cctggtagcc
     3661 cccaccccaa gacagagctg gatgcccctc gcttccgtag ggaaagcact tctcctgcag
     3721 gatggcattg ctctctcccc ttccatggca cgtagtatgt gctcagtaaa tatgtgttgg
     3781 atgagaaact gaaggtgtcc ccaggcctac accactgcca tgcccgaaca ctatccatgc
     3841 tatggtgggc accatctctc tgatgacagt tctgtgtcca caacccagac ccctccacac
     3901 aaacccagat ggggctgtgc cgctgttttc cagatgtatt cattcaacaa atatttgtag
     3961 ggtacctact gtgtgtcaga agatgttcaa gatcagcatc atccgatgga aatagcatat
     4021 gagccatgta tgtagtttca agtttttcat tagccacatt aaaaaagtaa aaggaaacaa
     4081 atgaaa
//
