LOCUS       NM_030772               2281 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens gap junction protein alpha 9 (GJA9), mRNA.
ACCESSION   NM_030772
VERSION     NM_030772.5
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 2281)
  AUTHORS   Sohl,G., Joussen,A., Kociok,N. and Willecke,K.
  TITLE     Expression of connexin genes in the human retina
  JOURNAL   BMC Ophthalmol 10, 27 (2010)
   PUBMED   20979653
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2281)
  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   3  (bases 1 to 2281)
  AUTHORS   Lu,C., Zhang,H., Deng,H., Xia,K., Pan,Q. and Xia,J.
  TITLE     [Molecular cloning of the human CX 58 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 19 (2), 95-99 (2002)
   PUBMED   11941580
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK312811.1, AF271261.1, BU689816.1 and AL139260.19.
            
            On May 17, 2019 this sequence version replaced NM_030772.4.
            
            Summary: Connexins, such as GJA9, 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 :: AK312811.1, DB084502.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357771.5/ ENSP00000350415.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1159              AK312811.1         1-1159
            1160-1899           AF271261.1         1162-1901
            1900-2019           BU689816.1         283-402             c
            2020-2020           AL139260.19        90431-90431         c
            2021-2281           BU689816.1         21-281              c
FEATURES             Location/Qualifiers
     source          1..2281
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..2281
                     /gene="GJA9"
                     /gene_synonym="CX58; CX59; GJA10"
                     /note="gap junction protein alpha 9"
                     /db_xref="GeneID:81025"
                     /db_xref="HGNC:HGNC:19155"
                     /db_xref="MIM:611923"
     exon            1..156
                     /gene="GJA9"
                     /gene_synonym="CX58; CX59; GJA10"
                     /inference="alignment:Splign:2.1.0"
     exon            157..2281
                     /gene="GJA9"
                     /gene_synonym="CX58; CX59; GJA10"
                     /inference="alignment:Splign:2.1.0"
     CDS             252..1799
                     /gene="GJA9"
                     /gene_synonym="CX58; CX59; GJA10"
                     /note="connexin 59; gap junction alpha 10; connexin-58;
                     gap junction protein, alpha 9, 59kDa"
                     /codon_start=1
                     /product="gap junction alpha-9 protein"
                     /protein_id="NP_110399.2"
                     /db_xref="CCDS:CCDS432.1"
                     /db_xref="GeneID:81025"
                     /db_xref="HGNC:HGNC:19155"
                     /db_xref="MIM:611923"
                     /translation="MGDWNLLGDTLEEVHIHSTMIGKIWLTILFIFRMLVLGVAAEDV
                     WNDEQSGFICNTEQPGCRNVCYDQAFPISLIRYWVLQVIFVSSPSLVYMGHALYRLRV
                     LEEERQRMKAQLRVELEEVEFEMPRDRRRLEQELCQLEKRKLNKAPLRGTLLCTYVIH
                     IFTRSVVEVGFMIGQYLLYGFHLEPLFKCHGHPCPNIIDCFVSRPTEKTIFLLFMQSI
                     ATISLFLNILEIFHLGFKKIKRGLWGKYKLKKEHNEFHANKAKQNVAKYQSTSANSLK
                     RLPSAPDYNLLVEKQTHTAVYPSLNSSSVFQPNPDNHSVNDEKCILDEQETVLSNEIS
                     TLSTSCSHFQHISSNNNKDTHKIFGKELNGNQLMEKRETEGKDSKRNYYSRGHRSIPG
                     VAIDGENNMRQSPQTVFSLPANCDWKPRWLRATWGSSTEHENRGSPPKGNLKGQFRKG
                     TVRTLPPSQGDSQSLDIPNTADSLGGLSFEPGLVRTCNNPVCPPNHVVSLTNNLIGRR
                     VPTDLQI"
     regulatory      2264..2269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJA9"
                     /gene_synonym="CX58; CX59; GJA10"
                     /note="hexamer: AATAAA"
     polyA_site      2281
                     /gene="GJA9"
                     /gene_synonym="CX58; CX59; GJA10"
                     /note="major polyA site"
ORIGIN      
        1 atggatttta gttgatggat gactcactca ctacattcaa ctgaactgaa tctgctctat
       61 accagcaaag ggacaaattc agaaaataaa ttgaagatgg ccatgctgta acttctaaac
      121 atggtttgct tctcagattt acctaaacta agaaaggttt gctttaagaa atagtgctcc
      181 cttcagaatg gaagaattta tctgcctctt atttgatgtg gatcagagct aagatggctg
      241 actaaataaa catgggggac tggaatctcc ttggagatac tctggaggaa gttcacatcc
      301 actccaccat gattggaaag atctggctca ccatcctgtt catatttcga atgcttgttc
      361 tgggtgtagc agctgaagat gtctggaatg atgagcagtc tggcttcatc tgcaatacag
      421 aacaaccagg ctgcagaaat gtatgctacg accaggcctt tcctatctcc ctcattagat
      481 actgggttct gcaggtgata tttgtgtctt caccatccct ggtctacatg ggccatgcat
      541 tgtaccgact gagagttctt gaggaagaga ggcaaaggat gaaagctcag ttaagagtag
      601 aactggagga ggtagagttt gaaatgccta gggatcggag gagattggag caagagcttt
      661 gtcagctgga gaaaaggaaa ctaaataaag ctccactcag aggaaccttg ctttgcactt
      721 atgtgataca cattttcact cgctctgtgg ttgaagttgg attcatgatt ggacagtacc
      781 ttttatatgg atttcactta gagccgctat ttaagtgcca tggccacccg tgtccaaata
      841 taatcgactg ttttgtctca agaccaacag aaaagacaat attcctatta tttatgcaat
      901 ctatagccac tatttcactt ttcttaaaca ttcttgaaat tttccaccta ggttttaaaa
      961 agattaaaag agggctttgg ggaaaataca agttgaagaa ggaacataat gaattccatg
     1021 caaacaaggc aaaacaaaat gtagccaaat accagagcac atctgcaaat tcactgaagc
     1081 gactcccttc tgcccctgat tataatctgt tagtggaaaa gcaaacacac actgcagtgt
     1141 accctagttt aaattcatct tctgtattcc agccaaatcc tgacaatcat agtgtaaatg
     1201 atgagaaatg cattttggat gaacaggaaa ctgtactttc taatgagatt tccacactta
     1261 gtactagttg tagtcatttt caacacatca gttcaaacaa taacaaagac actcataaaa
     1321 tatttggaaa agaacttaat ggtaaccagt taatggaaaa aagagaaact gaaggcaaag
     1381 acagcaaaag gaactactac tctagaggtc accgttctat tccaggtgtt gctatagatg
     1441 gagagaacaa catgaggcag tcaccccaaa cagttttctc cttgccagct aactgcgatt
     1501 ggaaaccgcg gtggcttaga gctacatggg gttcctctac agaacatgaa aaccgggggt
     1561 cacctcctaa aggtaacctc aagggccagt tcagaaaggg cacagtcaga acccttcctc
     1621 cttcacaagg agattctcaa tcacttgaca ttccaaacac tgctgattct ttgggagggc
     1681 tgtcctttga gccagggttg gtcagaacct gtaataatcc tgtttgtcct ccaaatcacg
     1741 tagtgtccct aacgaacaat ctcattggta ggcgggttcc cacagatctt cagatctaaa
     1801 cagcggttgg cttttagaca ttatatatat tatcagagaa gtagcctagt ggtcgtgggg
     1861 cacagaaaaa atagataggg gcagctctaa agaccagctg ttaagacaga caactgcaaa
     1921 ctcatttaag caagagaaaa acagctctaa ttcgagattg tgaagcaaca cttctaaatt
     1981 caaagacata gagttgtcaa atcaggattt tttttttttt aaatgatatc ctttcgaatg
     2041 taactgattt tgggaaaatc acatgttcag aattgaggct aaatggtttg atcaggtttt
     2101 ctctttgaag agaccacagc cttaggaaat ggttcttgat ctatacaatt ccaccttgga
     2161 cactgggtta attctgtttg cccctggaac acaatcacgt aagtttcctt ctagactggc
     2221 atcctgatgt gtcttgagta taatcacatg ttgctaccta gtaaataaaa tcttaagaag
     2281 a
//
