LOCUS       NM_004983               4202 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 9 (KCNJ9), mRNA.
ACCESSION   NM_004983
VERSION     NM_004983.3
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 4202)
  AUTHORS   Kochetkova,T.O., Maslennikov,D.N., Tolmacheva,E.R., Shubina,J.,
            Bolshakova,A.S., Suvorova,D.I., Degtyareva,A.V., Orlovskaya,I.V.,
            Kuznetsova,M.V., Rachkova,A.A., Sukhikh,G.T., Rebrikov,D.V. and
            Trofimov,D.Y.
  TITLE     De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal
            Seizures
  JOURNAL   Genes (Basel) 14 (2), 366 (2023)
   PUBMED   36833293
  REMARK    GeneRIF: De Novo Variant in the KCNJ9 Gene as a Possible Cause of
            Neonatal Seizures.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4202)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4202)
  AUTHORS   Lu,Q., Gong,L., Xu,H., Zhang,T., Yan,X., Zhao,J., Zhang,Z., Wang,Y.
            and Han,Y.
  TITLE     Identification of GIRK2-4 subunits in human esophageal smooth
            muscle cells
  JOURNAL   Mol Med Rep 4 (5), 941-945 (2011)
   PUBMED   21637918
  REMARK    GeneRIF: This study is the first to identify the expression of
            GIRK2-4 subunits in human esophageal smooth muscle cells.
REFERENCE   4  (bases 1 to 4202)
  AUTHORS   Kleene,R., Cassens,C., Bahring,R., Theis,T., Xiao,M.F.,
            Dityatev,A., Schafer-Nielsen,C., Doring,F., Wischmeyer,E. and
            Schachner,M.
  TITLE     Functional consequences of the interactions among the neural cell
            adhesion molecule NCAM, the receptor tyrosine kinase TrkB, and the
            inwardly rectifying K+ channel KIR3.3
  JOURNAL   J Biol Chem 285 (37), 28968-28979 (2010)
   PUBMED   20610389
  REMARK    GeneRIF: a decisive role for the neuronal K(+) channel in
            regulating NCAM-dependent neurite outgrowth and attribute a
            physiologically meaningful role to the functional interplay of
            Kir3.3, NCAM, and TrkB in ontogeny
REFERENCE   5  (bases 1 to 4202)
  AUTHORS   Kilic,G., Ismail Kucukali,C., Orhan,N., Ozkok,E., Zengin,A.,
            Aydin,M. and Kara,I.
  TITLE     Are GRIK3 (T928G) gene variants in schizophrenia patients different
            from those in their first-degree relatives?
  JOURNAL   Psychiatry Res 175 (1-2), 43-46 (2010)
   PUBMED   19995671
  REMARK    GeneRIF: The frequencies of GRIK3 (T928G) genotype distributions in
            the patients with schizophrenia were similar to those of their
            relatives.
REFERENCE   6  (bases 1 to 4202)
  AUTHORS   Jelacic,T.M., Kennedy,M.E., Wickman,K. and Clapham,D.E.
  TITLE     Functional and biochemical evidence for G-protein-gated inwardly
            rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3
  JOURNAL   J Biol Chem 275 (46), 36211-36216 (2000)
   PUBMED   10956667
REFERENCE   7  (bases 1 to 4202)
  AUTHORS   Vaughn,J., Wolford,J.K., Prochazka,M. and Permana,P.A.
  TITLE     Genomic structure and expression of human KCNJ9 (Kir3.3/GIRK3)
  JOURNAL   Biochem Biophys Res Commun 274 (2), 302-309 (2000)
   PUBMED   10913335
REFERENCE   8  (bases 1 to 4202)
  AUTHORS   Schoots,O., Wilson,J.M., Ethier,N., Bigras,E., Hebert,T.E. and Van
            Tol,H.H.
  TITLE     Co-expression of human Kir3 subunits can yield channels with
            different functional properties
  JOURNAL   Cell Signal 11 (12), 871-883 (1999)
   PUBMED   10659995
REFERENCE   9  (bases 1 to 4202)
  AUTHORS   Jelacic,T.M., Sims,S.M. and Clapham,D.E.
  TITLE     Functional expression and characterization of G-protein-gated
            inwardly rectifying K+ channels containing GIRK3
  JOURNAL   J Membr Biol 169 (2), 123-129 (1999)
   PUBMED   10341034
REFERENCE   10 (bases 1 to 4202)
  AUTHORS   Lesage,F., Fink,M., Barhanin,J., Lazdunski,M. and Mattei,M.G.
  TITLE     Assignment of human G-protein-coupled inward rectifier K+ channel
            homolog GIRK3 gene to chromosome 1q21-q23
  JOURNAL   Genomics 29 (3), 808-809 (1995)
   PUBMED   8575783
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121987.34.
            
            On Nov 26, 2018 this sequence version replaced NM_004983.2.
            
            Summary: Potassium channels are present in most mammalian cells,
            where they participate in a wide range of physiologic responses.
            The protein encoded by this gene is an integral membrane protein
            and inward-rectifier type potassium channel. The encoded protein,
            which has a greater tendency to allow potassium to flow into a cell
            rather than out of a cell, is controlled by G-proteins. It
            associates with another G-protein-activated potassium channel to
            form a heteromultimeric pore-forming complex. [provided by RefSeq,
            Jul 2008].
            
            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 :: U52152.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368088.4/ ENSP00000357067.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               AL121987.34        36311-36470
            161-1124            AL121987.34        38690-39653
            1125-4202           AL121987.34        42259-45336
FEATURES             Location/Qualifiers
     source          1..4202
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..4202
                     /gene="KCNJ9"
                     /gene_synonym="GIRK3; KIR3.3"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 9"
                     /db_xref="GeneID:3765"
                     /db_xref="HGNC:HGNC:6270"
                     /db_xref="MIM:600932"
     exon            1..160
                     /gene="KCNJ9"
                     /gene_synonym="GIRK3; KIR3.3"
                     /inference="alignment:Splign:2.1.0"
     exon            161..1124
                     /gene="KCNJ9"
                     /gene_synonym="GIRK3; KIR3.3"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..1456
                     /gene="KCNJ9"
                     /gene_synonym="GIRK3; KIR3.3"
                     /note="G protein-coupled inward rectifier potassium
                     channel; inwardly rectifier K+ channel KIR3.3; inward
                     rectifier K(+) channel Kir3.3; potassium channel, inwardly
                     rectifying subfamily J member 9; potassium voltage-gated
                     channel subfamily J member 9"
                     /codon_start=1
                     /product="G protein-activated inward rectifier potassium
                     channel 3"
                     /protein_id="NP_004974.2"
                     /db_xref="CCDS:CCDS1194.1"
                     /db_xref="GeneID:3765"
                     /db_xref="HGNC:HGNC:6270"
                     /db_xref="MIM:600932"
                     /translation="MAQENAAFSPGQEEPPRRRGRQRYVEKDGRCNVQQGNVRETYRY
                     LTDLFTTLVDLQWRLSLLFFVLAYALTWLFFGAIWWLIAYGRGDLEHLEDTAWTPCVN
                     NLNGFVAAFLFSIETETTIGYGHRVITDQCPEGIVLLLLQAILGSMVNAFMVGCMFVK
                     ISQPNKRAATLVFSSHAVVSLRDGRLCLMFRVGDLRSSHIVEASIRAKLIRSRQTLEG
                     EFIPLHQTDLSVGFDTGDDRLFLVSPLVISHEIDAASPFWEASRRALERDDFEIVVIL
                     EGMVEATGMTCQARSSYLVDEVLWGHRFTSVLTLEDGFYEVDYASFHETFEVPTPSCS
                     ARELAEAAARLDAHLYWSIPSRLDEKVEEEGAGEGAGGEAGADKEQNGCLPPPESESK
                     V"
     exon            1125..4202
                     /gene="KCNJ9"
                     /gene_synonym="GIRK3; KIR3.3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4178..4183
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ9"
                     /gene_synonym="GIRK3; KIR3.3"
                     /note="hexamer: AATAAA"
     polyA_site      4202
                     /gene="KCNJ9"
                     /gene_synonym="GIRK3; KIR3.3"
                     /note="major polyA site"
ORIGIN      
        1 acagatagca agtcctagtc agagctgccg ctacatttag gagaaacagc ggtgtctgcg
       61 gctcccaccc ttcggggggc ccgtgggggg ggcggtgtca ggggcatgga cgccaccccc
      121 caggggtctc tgctgccggc tactctcctc tccacgtgct cccctccagg acccccgacg
      181 ccgcctaggc gcccagcgac gcgcggcagg tggcagcagc tcgggccccc gccgcactcc
      241 aggcgcccgc agcgctcgcc ctgacgcggc cgccatggcg caggagaacg cggccttctc
      301 gcccgggcag gaggagccgc cgcggcgccg cggccgccag cgctacgtgg agaaggatgg
      361 ccggtgcaac gtgcagcagg gcaacgtgcg cgagacatac cgctacctga cggacctgtt
      421 caccacgctg gtggacctgc agtggcgcct cagcctgttg ttcttcgtcc tggcctacgc
      481 gctcacctgg ctcttcttcg gcgccatctg gtggctgatc gcctacggcc gcggcgacct
      541 ggagcacctg gaggacaccg cgtggacgcc gtgcgtcaac aacctcaacg gcttcgtggc
      601 cgccttcctc ttctccatcg agaccgagac caccatcggc tacgggcacc gcgtcatcac
      661 cgaccagtgc cccgagggca tcgtgctgct gctgctgcag gccatcctgg gctccatggt
      721 gaacgccttc atggtgggct gcatgttcgt caagatctcg cagcccaaca agcgcgcagc
      781 cacgctcgtc ttctcctcgc acgccgtggt gtcgctgcgc gacgggcgcc tctgcctcat
      841 gttccgcgtg ggcgacttgc gctcctcaca catagtggag gcctccatcc gcgccaagct
      901 catccgctcg cgccagacgc tggagggcga gttcatcccg ctgcaccaga ccgacctcag
      961 cgtgggcttc gacacgggag acgaccgcct cttcctcgtc tcgccgctgg ttatcagcca
     1021 cgagatcgac gccgccagcc ccttctggga ggcgtcgcgc cgtgccctcg agagggacga
     1081 cttcgagatc gtcgttatcc tcgagggcat ggtggaagcc acgggaatga catgccaagc
     1141 tcggagctcc tacctggtag acgaggtgct gtggggccac cgcttcacgt cagtgctgac
     1201 tctggaggac ggcttctacg aagtggacta tgccagcttt cacgagactt ttgaggtgcc
     1261 cacaccttcg tgcagtgctc gagagctggc agaggctgcc gcccgccttg atgcccatct
     1321 ctactggtcc atccccagcc ggctggatga gaaggtggag gaggaggggg cgggggaggg
     1381 ggcgggtggg gaagctgggg ctgacaagga gcagaatggc tgcctgccac ccccagagag
     1441 tgagtccaag gtgtgaccag cttcctccag acccctgtgg cagaccgggg gccagacaca
     1501 gatacatggg gaactgcata tcggaggtgg tggaggagga ggaggaggag gaaggcaaag
     1561 cccctggaaa tgtgctaaag ttggaaagtc cccgtccccc agaacctcaa gtctagaaac
     1621 cagtatggaa gggaggggtc ctgatttcag ggaaatggag ggtggggccg ggtgaaaatg
     1681 ccagtctgtg tttgaccttc acatttgttc atgagtggat ggatggacag aatgatggac
     1741 ttttgggggt tggatgggaa gatggtagca gataaagaca gctgacagat acatagatgg
     1801 accagtagac aactggtcca ctcagggctg ccactaacct gtagaacacc cctgtgcaaa
     1861 ttttaaaaag gaaccctttt cctccagaca gatacagccc caaaccaggg tgcatggctt
     1921 ggggagcaga gtataggatg gattgcagtc cccagtcacc tcttctgcca gcctccccac
     1981 atatggcaca actgtctaat gacacggtag gccaagctga agtgaaggag aaaggagccg
     2041 gaccaagatg ggcacatgag gagggtgccc tcctagctcc accctcacca ggatgaaggc
     2101 gtgcaagggg ctcagcaagg tgtgaatgac cttagtccgc aagttcaggg aagcaggcag
     2161 agcggggagg tgcctgagct ggggcctgga gaggggcctg ggaaaggaaa accagggata
     2221 gctattttct tacagtggag tgagatctta caggtatcag gcacaggcag gaagagagag
     2281 agagaggttc tggggaggaa gggccaggag agagatctag aaagtgggtt cactagagct
     2341 gggaaacagg gagcccctag gaaagcagtg tgtccttggg gcacagtcat tcacatcact
     2401 gattgggtgc catgtggagt ggacattcaa aaacctggtt cctgtcctca aaataagggg
     2461 cacctgggaa aacagaggaa tctacctgtg gtgactgaac gagggataat tcaaactgac
     2521 aacctgtgca gtcccgtgga gggtagggga gtgtgggtga tcagaaggct ggggccagtg
     2581 taaggcatag ggaatatgta agtcaggagt tagaaatctc cagtgtgcgt tggaatcacc
     2641 tggagggctt ggtaaaacac agatttttgg gctccactcc aagggtttct gacccaagag
     2701 gtggggacca aaaccatgca ttcctaagaa gtccccaggt catgctgctg ttgctggact
     2761 gaggaccaca ctttgagaac ctgtgctcta agtgaatact tggaagtcgt ttcaggacat
     2821 ggggcataga aactgaggag tagctgagag gaagatgaag agaagctgag aagaagctga
     2881 ggatcctcac aggagcagac agagaaatgt gaagggtggg gttttatgtg tgggaaaggg
     2941 acccgaagcc caggctgaag agtttaactt tgggcccaga aactcaacca tcaatggaaa
     3001 cagggcagtg acaagtggag ggggtgtctg gaagctgagc aggcccgaca gagagatgaa
     3061 gccatcagaa ggacttgagg gggctcctgg ggaggtcggg gggaggtgga gcaggaagag
     3121 ttttaggggc aaaggacaga accccttgta ggactggagg caagattgaa tgtgggagaa
     3181 aatcggagag aagcgatagg agttagaaca tctggatgtg tctgcagcct gctgtcagcc
     3241 caattgggcc agggggtccc aaagacgcat attctcaccc cacctccacc tgcttcctga
     3301 tcacatccca gtcaccagcg gcagcttcct ggatagtgag ggagaacaac tgcaagttga
     3361 gagaggcaga ggggtggaag ggacctgaag ctggcctgga gaaaagcata ggcccaggag
     3421 agcctgccct gggacagcgc ctgtctccca cacagcagca ctggcccagc aaggacctcc
     3481 tcccttggcc ctggccacat cccactcctg ccctttcata agccccctgg ggaaagcact
     3541 ccagtcttct ctgttccagg ctgggcagat agggtcctat ggggcacagc cagggtccta
     3601 tgggcatagc cagggcccta tgggtcctct ggaagcaaga aagggggcca tggaagcagc
     3661 ccagacagct ggggttcact cagagaggac ccaagtccca gtcccttcct ttcagtcaaa
     3721 acacggatat ctttgcctca ggtcacaggg ccactggggc cctgtcatca aagatgagat
     3781 tcctgaagcc tggcattgac tggtccccta agaacagatg ttgggatgga gaatggggat
     3841 tcatttgggt ttcagtaaaa caggggggtc tggacaagag cgggtgggct acttggtatc
     3901 cacacacacg cactcacaca ggagccaacc cattgcagct gaacaagcag agaaactcag
     3961 tctggaaagg cccctcctgc ctgctgaagt cactgagacc ctgccacacc tctcctcgcc
     4021 actgtcacca ctcagggcac cactgtacag tgcaacaagt caggagacct aggtcctact
     4081 cctgacactt gctaattagc tctatgactc tgggcaaatc gcatatctgg gcctcagttt
     4141 cctcatctgt aaaaatgaca gcaaactcgt aatgctcaat aaatgtttaa ataacaactg
     4201 aa
//
