LOCUS       NM_000165               3083 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens gap junction protein alpha 1 (GJA1), mRNA.
ACCESSION   NM_000165
VERSION     NM_000165.5
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 3083)
  AUTHORS   Irwin,R.M., Thomas,M.A., Fahey,M.J., Mayan,M.D., Smyth,J.W. and
            Delco,M.L.
  TITLE     Connexin 43 regulates intercellular mitochondrial transfer from
            human mesenchymal stromal cells to chondrocytes
  JOURNAL   Stem Cell Res Ther 15 (1), 359 (2024)
   PUBMED   39390589
  REMARK    GeneRIF: Connexin 43 regulates intercellular mitochondrial transfer
            from human mesenchymal stromal cells to chondrocytes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3083)
  AUTHORS   Chen,J.C., Yeh,K.T., Lin,Y.M. and Cheng,Y.W.
  TITLE     Mutations of the Cx43 Gene in Non-Small Cell Lung Cancer:
            Association with Aberrant Localization of Cx43 Protein Expression
            and Tumor Progression
  JOURNAL   Medicina (Kaunas) 60 (10), 1641 (2024)
   PUBMED   39459427
  REMARK    GeneRIF: Mutations of the Cx43 Gene in Non-Small Cell Lung Cancer:
            Association with Aberrant Localization of Cx43 Protein Expression
            and Tumor Progression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3083)
  AUTHORS   Fu,Y., Sun,X., He,Q., Gu,Z., Jia,X. and Zhuang,Z.
  TITLE     Connexin 43 controls metastatic behavior in triple negative breast
            cancer through TGFbeta1-Smad3-intergin alphaV signaling axis Based
            on optical image diagnosis
  JOURNAL   SLAS Technol 29 (5), 100190 (2024)
   PUBMED   39299505
  REMARK    GeneRIF: Connexin 43 controls metastatic behavior in triple
            negative breast cancer through TGFbeta1-Smad3-intergin alphaV
            signaling axis Based on optical image diagnosis.
REFERENCE   4  (bases 1 to 3083)
  AUTHORS   Luse,M.A., Dunaway,L.S., Nyshadham,S., Carvalho,A., Sedovy,M.W.,
            Ruddiman,C.A., Tessema,R., Hirschi,K., Johnstone,S.R. and
            Isakson,B.E.
  TITLE     Endothelial-adipocyte Cx43 Mediated Gap Junctions Can Regulate
            Adiposity
  JOURNAL   Function (Oxf) 5 (5) (2024)
   PUBMED   38984993
  REMARK    GeneRIF: Endothelial-adipocyte Cx43 Mediated Gap Junctions Can
            Regulate Adiposity.
REFERENCE   5  (bases 1 to 3083)
  AUTHORS   Della Morte,E., Giannasi,C., Valenza,A., Cadelano,F., Aldegheri,A.,
            Zagra,L., Niada,S. and Brini,A.T.
  TITLE     Connexin 43 Modulation in Human Chondrocytes, Osteoblasts and
            Cartilage Explants: Implications for Inflammatory Joint Disorders
  JOURNAL   Int J Mol Sci 25 (15), 8547 (2024)
   PUBMED   39126115
  REMARK    GeneRIF: Connexin 43 Modulation in Human Chondrocytes, Osteoblasts
            and Cartilage Explants: Implications for Inflammatory Joint
            Disorders.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3083)
  AUTHORS   Britz-Cunningham,S.H., Shah,M.M., Zuppan,C.W. and Fletcher,W.H.
  TITLE     Mutations of the Connexin43 gap-junction gene in patients with
            heart malformations and defects of laterality
  JOURNAL   N Engl J Med 332 (20), 1323-1329 (1995)
   PUBMED   7715640
REFERENCE   7  (bases 1 to 3083)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   8  (bases 1 to 3083)
  AUTHORS   Fishman,G.I., Moreno,A.P., Spray,D.C. and Leinwand,L.A.
  TITLE     Functional analysis of human cardiac gap junction channel mutants
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3525-3529 (1991)
   PUBMED   1850831
REFERENCE   9  (bases 1 to 3083)
  AUTHORS   Fishman,G.I., Eddy,R.L., Shows,T.B., Rosenthal,L. and Leinwand,L.A.
  TITLE     The human connexin gene family of gap junction proteins: distinct
            chromosomal locations but similar structures
  JOURNAL   Genomics 10 (1), 250-256 (1991)
   PUBMED   1646158
REFERENCE   10 (bases 1 to 3083)
  AUTHORS   Fishman,G.I., Spray,D.C. and Leinwand,L.A.
  TITLE     Molecular characterization and functional expression of the human
            cardiac gap junction channel
  JOURNAL   J Cell Biol 111 (2), 589-598 (1990)
   PUBMED   1696265
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP226987.1, BC026329.1,
            AL139098.15 and AW664595.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 3, 2018 this sequence version replaced NM_000165.4.
            
            Summary: This gene is a member of the connexin gene family. The
            encoded protein is a component of gap junctions, which are composed
            of arrays of intercellular channels that provide a route for the
            diffusion of low molecular weight materials from cell to cell. The
            encoded protein is the major protein of gap junctions in the heart
            that are thought to have a crucial role in the synchronized
            contraction of the heart and in embryonic development. A related
            intronless pseudogene has been mapped to chromosome 5. Mutations in
            this gene have been associated with oculodentodigital dysplasia,
            autosomal recessive craniometaphyseal dysplasia and heart
            malformations. [provided by RefSeq, May 2014].
            
            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 :: SRR1660805.188866.1,
                                           SRR1660803.132563.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282561.4/ ENSP00000282561.3
            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
            1-115               BP226987.1         70-184
            116-1234            BC026329.1         1-1119
            1235-1235           AL139098.15        114037-114037
            1236-3081           BC026329.1         1121-2966
            3082-3083           AW664595.1         356-357
FEATURES             Location/Qualifiers
     source          1..3083
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.31"
     gene            1..3083
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL;
                     HLHS1; HSS; ODDD; PPKCA"
                     /note="gap junction protein alpha 1"
                     /db_xref="GeneID:2697"
                     /db_xref="HGNC:HGNC:4274"
                     /db_xref="MIM:121014"
     exon            1..187
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL;
                     HLHS1; HSS; ODDD; PPKCA"
                     /inference="alignment:Splign:2.1.0"
     exon            188..3083
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL;
                     HLHS1; HSS; ODDD; PPKCA"
                     /inference="alignment:Splign:2.1.0"
     CDS             204..1352
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL;
                     HLHS1; HSS; ODDD; PPKCA"
                     /note="gap junction 43 kDa heart protein; connexin-43; gap
                     junction protein, alpha 1, 43kDa"
                     /codon_start=1
                     /product="gap junction alpha-1 protein"
                     /protein_id="NP_000156.1"
                     /db_xref="CCDS:CCDS5123.1"
                     /db_xref="GeneID:2697"
                     /db_xref="HGNC:HGNC:4274"
                     /db_xref="MIM:121014"
                     /translation="MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESA
                     WGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRK
                     EEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISIL
                     FKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSL
                     VSLALNIIELFYVFFKGVKDRVKGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTA
                     PLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRMGQAGSTISNSHAQP
                     FDFPDDNQNSKKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI"
     regulatory      3056..3061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL;
                     HLHS1; HSS; ODDD; PPKCA"
                     /note="hexamer: AATAAA"
     polyA_site      3083
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL;
                     HLHS1; HSS; ODDD; PPKCA"
                     /note="major polyA site"
ORIGIN      
        1 aaaagctttt acgaggtatc agcacttttc tttcattagg gggaaggcgt gaggaaagta
       61 ccaaacagca gcggagtttt aaactttaaa tagacaggtc tgagtgcctg aacttgcctt
      121 ttcattttac ttcatcctcc aaggagttca atcacttggc gtgacttcac tacttttaag
      181 caaaagagtg gtgcccaggc aacatgggtg actggagcgc cttaggcaaa ctccttgaca
      241 aggttcaagc ctactcaact gctggaggga aggtgtggct gtcagtactt ttcattttcc
      301 gaatcctgct gctggggaca gcggttgagt cagcctgggg agatgagcag tctgcctttc
      361 gttgtaacac tcagcaacct ggttgtgaaa atgtctgcta tgacaagtct ttcccaatct
      421 ctcatgtgcg cttctgggtc ctgcagatca tatttgtgtc tgtacccaca ctcttgtacc
      481 tggctcatgt gttctatgtg atgcgaaagg aagagaaact gaacaagaaa gaggaagaac
      541 tcaaggttgc ccaaactgat ggtgtcaatg tggacatgca cttgaagcag attgagataa
      601 agaagttcaa gtacggtatt gaagagcatg gtaaggtgaa aatgcgaggg gggttgctgc
      661 gaacctacat catcagtatc ctcttcaagt ctatctttga ggtggccttc ttgctgatcc
      721 agtggtacat ctatggattc agcttgagtg ctgtttacac ttgcaaaaga gatccctgcc
      781 cacatcaggt ggactgtttc ctctctcgcc ccacggagaa aaccatcttc atcatcttca
      841 tgctggtggt gtccttggtg tccctggcct tgaatatcat tgaactcttc tatgttttct
      901 tcaagggcgt taaggatcgg gttaagggaa agagcgaccc ttaccatgcg accagtggtg
      961 cgctgagccc tgccaaagac tgtgggtctc aaaaatatgc ttatttcaat ggctgctcct
     1021 caccaaccgc tcccctctcg cctatgtctc ctcctgggta caagctggtt actggcgaca
     1081 gaaacaattc ttcttgccgc aattacaaca agcaagcaag tgagcaaaac tgggctaatt
     1141 acagtgcaga acaaaatcga atggggcagg cgggaagcac catctctaac tcccatgcac
     1201 agccttttga tttccccgat gataaccaga attctaaaaa actagctgct ggacatgaat
     1261 tacagccact agccattgtg gaccagcgac cttcaagcag agccagcagt cgtgccagca
     1321 gcagacctcg gcctgatgac ctggagatct agatacaggc ttgaaagcat caagattcca
     1381 ctcaattgtg gagaagaaaa aaggtgctgt agaaagtgca ccaggtgtta attttgatcc
     1441 ggtggaggtg gtactcaaca gccttattca tgaggcttag aaaacacaaa gacattagaa
     1501 tacctaggtt cactgggggt gtatggggta gatgggtgga gagggagggg ataagagagg
     1561 tgcatgttgg tatttaaagt agtggattca aagaacttag attataaata agagttccat
     1621 taggtgatac atagataagg gctttttctc cccgcaaaca cccctaagaa tggttctgtg
     1681 tatgtgaatg agcgggtggt aattgtggct aaatattttt gttttaccaa gaaactgaaa
     1741 taattctggc caggaataaa tacttcctga acatcttagg tcttttcaac aagaaaaaga
     1801 cagaggattg tccttaagtc cctgctaaaa cattccattg ttaaaatttg cactttgaag
     1861 gtaagctttc taggcctgac cctccaggtg tcaatggact tgtgctacta tattttttta
     1921 ttcttggtat cagtttaaaa ttcagacaag gcccacagaa taagattttc catgcatttg
     1981 caaatacgta tattcttttt ccatccactt gcacaatatc attaccatca ctttttcatc
     2041 attcctcagc tactactcac attcatttaa tggtttctgt aaacattttt aagacagttg
     2101 ggatgtcact taacattttt tttttgagct aaagtcaggg aatcaagcca tgcttaatat
     2161 ttaacaatca cttatatgtg tgtcgaagag tttgttttgt ttgtcatgta ttggtacaag
     2221 cagatacagt ataaactcac aaacacagat ttgaaaataa tgcacatatg gtgttcaaat
     2281 ttgaaccttt ctcatggatt tttgtggtgt gggccaatat ggtgtttaca ttatataatt
     2341 cctgctgtgg caagtaaagc acactttttt tttctcctaa aatgtttttc cctgtgtatc
     2401 ctattatgga tactggtttt gttaattatg attctttatt ttctctcctt tttttaggat
     2461 atagcagtaa tgctattact gaaatgaatt tcctttttct gaaatgtaat cattgatgct
     2521 tgaatgatag aattttagta ctgtaaacag gctttagtca ttaatgtgag agacttagaa
     2581 aaaatgctta gagtggacta ttaaatgtgc ctaaatgaat tttgcagtaa ctggtattct
     2641 tgggttttcc tacttaatac acagtaattc agaacttgta ttctattatg agtttagcag
     2701 tcttttggag tgaccagcaa ctttgatgtt tgcactaaga ttttatttgg aatgcaagag
     2761 aggttgaaag aggattcagt agtacacata caactaattt atttgaacta tatgttgaag
     2821 acatctacca gtttctccaa atgccttttt taaaactcat cacagaagat tggtgaaaat
     2881 gctgagtatg acacttttct tcttgcatgc atgtcagcta cataaacagt tttgtacaat
     2941 gaaaattact aatttgtttg acattccatg ttaaactacg gtcatgttca gcttcattgc
     3001 atgtaatgta gacctagtcc atcagatcat gtgttctgga gagtgttctt tattcaataa
     3061 agttttaatt tagtataaac ata
//
