LOCUS       NM_001358410            1288 bp    mRNA    linear   PRI 29-JUL-2024
DEFINITION  Homo sapiens gap junction protein epsilon 1 (GJE1), mRNA.
ACCESSION   NM_001358410
VERSION     NM_001358410.2
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 1288)
  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: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 1288)
  AUTHORS   Sonntag,S., Sohl,G., Dobrowolski,R., Zhang,J., Theis,M.,
            Winterhager,E., Bukauskas,F.F. and Willecke,K.
  TITLE     Mouse lens connexin23 (Gje1) does not form functional gap junction
            channels but causes enhanced ATP release from HeLa cells
  JOURNAL   Eur J Cell Biol 88 (2), 65-77 (2009)
   PUBMED   18849090
COMMENT     INFERRED REFSEQ: This record is predicted by genome sequence
            analysis and is not yet supported by experimental evidence. The
            reference sequence was derived from AL033522.1.
            
            On Jun 7, 2021 this sequence version replaced NM_001358410.1.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000450456.3/ ENSP00000455469.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-273               AL033522.1         23739-24011
            274-468             AL033522.1         24664-24858
            469-1288            AL033522.1         25353-26172
FEATURES             Location/Qualifiers
     source          1..1288
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.1"
     gene            1..1288
                     /gene="GJE1"
                     /gene_synonym="CX23"
                     /note="gap junction protein epsilon 1"
                     /db_xref="GeneID:100126572"
                     /db_xref="HGNC:HGNC:33251"
     exon            1..273
                     /gene="GJE1"
                     /gene_synonym="CX23"
                     /inference="alignment:Splign:2.1.0"
     CDS             235..852
                     /gene="GJE1"
                     /gene_synonym="CX23"
                     /note="connexin-23; gap junction protein, epsilon 1,
                     23kDa"
                     /codon_start=1
                     /product="putative gap junction epsilon-1 protein"
                     /protein_id="NP_001345339.1"
                     /db_xref="CCDS:CCDS87449.1"
                     /db_xref="GeneID:100126572"
                     /db_xref="HGNC:HGNC:33251"
                     /translation="MSLNYIKNFYEGCVKPPTVIGQFHTLFFGSIRIFFLGVLGFAVY
                     GNEALHFICDPDKREVNLFCYNQFRPITPQVSFSALQLVIVLVPGALFHLYAACKSIN
                     QECILQKPIYTIIYILSVLLRISLAAIAFWLQIYLFGFQVKSLYLCDARSLGENMIIR
                     CMVPEHFEKTIFLIAINTFTTITILLFVAEIFEIIFRRLYFPFRQ"
     exon            274..468
                     /gene="GJE1"
                     /gene_synonym="CX23"
                     /inference="alignment:Splign:2.1.0"
     exon            469..1288
                     /gene="GJE1"
                     /gene_synonym="CX23"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 tgctctctgc ttttgtttct ttgtttttgt tttgttttgg gacagagata ggaaggttga
       61 atggggcccc agagatctaa gagtaaagga ggaggggaga gaaatttgta gtgatgagtg
      121 ttttctgctg taagagtcct gagagaatgt aagagtttga ttctggcaga agcaaactgg
      181 caatgtgggt caagaattaa ccaacaggaa tgccaggata acatctcctg agacatgtct
      241 ctaaattaca tcaaaaactt ctatgaagga tgtgttaaac ctccaactgt gattggtcaa
      301 ttccacaccc ttttctttgg atcgatccga atattcttcc tcggggtgct aggctttgca
      361 gtttatggga atgaggcctt gcacttcatt tgcgatccag acaaaagaga agtaaacctc
      421 ttctgttaca atcagttcag gccaatcact ccacaagtaa gtttttctgc attacaacta
      481 gttattgtcc tggttcctgg agctcttttc cacctttatg ctgcatgtaa aagcatcaat
      541 caagaatgca ttcttcaaaa gcctatctac actataattt atatactctc tgttttatta
      601 agaattagtc tagcggcaat agcattctgg cttcagattt acctctttgg tttccaagta
      661 aaatctcttt acctgtgtga tgctagatct cttggggaaa acatgattat aagatgcatg
      721 gttccagaac actttgaaaa aaccattttt ctcattgcaa taaatacatt tacaacaatt
      781 acaattttat tatttgttgc tgagattttt gagatcatat ttagaagatt atactttcca
      841 ttcagacaat gaccaaataa ttacctattg tcatgctgca gttatttatc atttttattt
      901 agttttatct tactcagtga gtacaatttc aaaacaaact tacttcaatg tgtctgaaat
      961 ttttgtctac tataaaatat agtgcctggt tgtaaggtaa ggattcttga agaaatattt
     1021 cattttaatt ttgatcactt ttattagaaa atatacacag aactactgtt aatttatttt
     1081 taaacagtgc ttttacagag ttctctcaca tacatgttaa ttgatcagtt tttctgtggc
     1141 cagagaaact tttattgtct ttttttacga agtggaaaat tgatgctcat gagggttaat
     1201 ttaggtggtc aaagtcataa tccagatatt tatatttccc tttctgtgga actatacagt
     1261 tttaaatttg agggtgtaat tattttgc
//
