LOCUS       NM_153368               1649 bp    mRNA    linear   PRI 19-MAR-2024
DEFINITION  Homo sapiens gap junction protein delta 4 (GJD4), mRNA.
ACCESSION   NM_153368
VERSION     NM_153368.3
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 1649)
  AUTHORS   Cea,L.A., Bevilacqua,J.A., Arriagada,C., Cardenas,A.M., Bigot,A.,
            Mouly,V., Saez,J.C. and Caviedes,P.
  TITLE     The absence of dysferlin induces the expression of functional
            connexin-based hemichannels in human myotubes
  JOURNAL   BMC Cell Biol 17 Suppl 1 (Suppl 1), 15 (2016)
   PUBMED   27229680
  REMARK    GeneRIF: Human deltoid muscle biopsies of 5 Chilean dysferlinopathy
            patients exhibited the presence of muscular connexins (Cx40.1, Cx43
            and Cx45).
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1649)
  AUTHORS   Vaiyapuri,S., Moraes,L.A., Sage,T., Ali,M.S., Lewis,K.R.,
            Mahaut-Smith,M.P., Oviedo-Orta,E., Simon,A.M. and Gibbins,J.M.
  TITLE     Connexin40 regulates platelet function
  JOURNAL   Nat Commun 4, 2564 (2013)
   PUBMED   24096827
  REMARK    GeneRIF: Connexin40 regulates platelet function.
REFERENCE   3  (bases 1 to 1649)
  AUTHORS   Gemel,J., Nelson,T.K., Burt,J.M. and Beyer,E.C.
  TITLE     Inducible coexpression of connexin37 or connexin40 with connexin43
            selectively affects intercellular molecular transfer
  JOURNAL   J Membr Biol 245 (5-6), 231-241 (2012)
   PUBMED   22729648
  REMARK    GeneRIF: The data show that induced expression of either Cx37 or
            Cx40 in Cx43-expressing cells can selectively alter the
            intercellular exchange of some molecules without affecting the
            transfer of others.
REFERENCE   4  (bases 1 to 1649)
  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]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL121749.14, AK074504.1 and AJ414564.1.
            
            On May 17, 2019 this sequence version replaced NM_153368.2.
            
            Summary: Connexins, such as GJD4, are involved in the formation of
            gap junctions, intercellular conduits that directly connect the
            cytoplasms of contacting cells. Each gap junction channel is formed
            by docking of 2 hemichannels, each of which contains 6 connexin
            subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM,
            Mar 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074504.1, AJ414564.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321660.2/ ENSP00000315070.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-69                AL121749.14        95514-95582
            70-839              AK074504.1         1-770
            840-1340            AJ414564.1         613-1113
            1341-1649           AK074504.1         1272-1580
FEATURES             Location/Qualifiers
     source          1..1649
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.21"
     gene            1..1649
                     /gene="GJD4"
                     /gene_synonym="CX40.1"
                     /note="gap junction protein delta 4"
                     /db_xref="GeneID:219770"
                     /db_xref="HGNC:HGNC:23296"
                     /db_xref="MIM:611922"
     exon            1..291
                     /gene="GJD4"
                     /gene_synonym="CX40.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             228..1340
                     /gene="GJD4"
                     /gene_synonym="CX40.1"
                     /note="connexin40.1; connexin-40.1; gap junction protein,
                     delta 4, 40.1kDa"
                     /codon_start=1
                     /product="gap junction delta-4 protein"
                     /protein_id="NP_699199.2"
                     /db_xref="CCDS:CCDS7191.1"
                     /db_xref="GeneID:219770"
                     /db_xref="HGNC:HGNC:23296"
                     /db_xref="MIM:611922"
                     /translation="MEGVDLLGFLIITLNCNVTMVGKLWFVLTMLLRMLVIVLAGRPV
                     YQDEQERFVCNTLQPGCANVCYDVFSPVSHLRFWLIQGVCVLLPSAVFSVYVLHRGAT
                     LAALGPRRCPDPREPASGQRRCPRPFGERGGLQVPDFSAGYIIHLLLRTLLEAAFGAL
                     HYFLFGFLAPKKFPCTRPPCTGVVDCYVSRPTEKSLLMLFLWAVSALSFLLGLADLVC
                     SLRRRMRRRPGPPTSPSIRKQSGASGHAEGRRTDEEGGREEEGAPAPPGARAGGEGAG
                     SPRRTSRVSGHTKIPDEDESEVTSSASEKLGRQPRGRPHREAAQDPRGSGSEEQPSAA
                     PSRLAAPPSCSSLQPPDPPASSSGAPHLRARKSEWV"
     exon            292..1649
                     /gene="GJD4"
                     /gene_synonym="CX40.1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggtcactgca gttgtcagga atgtttcgcc tcagaggcaa acggcttagg gccgtctcaa
       61 cttggagaca gaaaaaccca cctcctactc ctggctcaga cctttgcttt cttatctcca
      121 gctcacacct ttaagtctta tgtagttaaa ggacatttat ccgcctcctt ggagaacaca
      181 gccctccagt gtctcctgca gcctggagcc tgggacattc tggaagcatg gaaggcgtgg
      241 acttgctagg gtttctcatc atcacattaa actgcaacgt gaccatggtg ggaaagctct
      301 ggttcgtcct cacgatgctg ctgcggatgc tggtgattgt cttggcgggg cgacccgtct
      361 accaggacga gcaggagagg tttgtctgca acacgctgca gccgggatgc gccaatgttt
      421 gctacgacgt cttctccccc gtgtctcacc tgcggttctg gctgatccag ggcgtgtgcg
      481 tcctcctccc ctccgccgtc ttcagcgtct atgtcctgca ccgaggagcc acgctcgccg
      541 cgctgggccc ccgccgctgc cccgaccccc gggagccggc ctccgggcag agacgctgcc
      601 cgcggccatt cggggagcgc ggcggcctcc aggtgcccga cttttcggcc ggctacatca
      661 tccacctcct cctccggacc ctgctggagg cagccttcgg ggccttgcac tactttctct
      721 ttggattcct ggccccgaag aagttccctt gcacgcgccc tccgtgcacg ggcgtggtgg
      781 actgctacgt gtcgcggccc acagagaagt ccctgctgat gctgttcctc tgggcggtca
      841 gcgcgctgtc ttttctgctg ggcctcgccg acctggtctg cagcctgcgg cggcggatgc
      901 gcaggaggcc gggacccccc acaagcccct ccatccggaa gcagagcgga gcctcaggcc
      961 acgcggaggg acgccggact gacgaggagg gtgggcggga ggaagagggg gcaccggcgc
     1021 ccccgggtgc acgcgccgga ggggaggggg ctggcagccc caggcgtaca tccagggtgt
     1081 cagggcacac gaagattccg gatgaggatg agagtgaggt gacatcctcc gccagcgaaa
     1141 agctgggcag acagccccgg ggcaggcccc accgagaggc cgcccaggac cccaggggct
     1201 caggatccga ggagcagccc tcagcagccc ccagccgcct ggccgcgccc ccttcctgca
     1261 gcagcctgca gccccctgac ccgcctgcca gctccagtgg tgctccccac ctgagagcca
     1321 ggaagtctga gtgggtgtga aaaaaacagc acctggcggt gccccggggc tcacgcctgt
     1381 aatcccaaca ctttgggagg cccaggcagg aggatcgttt gagaatatat ctccttgccc
     1441 aagagtttga gaccagcctg gacaacataa tgagaccctc gtctctacaa aatatctaaa
     1501 aattagctgg gcacagtggc tccctcctgt agtcccagct acttgggagg ctgagatggg
     1561 aggaccattt gagcctggga gatcgaggct gcagtgagcc aagatcacgg cactgcgctg
     1621 cagcctgggc aacacagtga gaccctgtc
//
