LOCUS       NM_004982               2274 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 8 (KCNJ8), mRNA.
ACCESSION   NM_004982
VERSION     NM_004982.4
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 2274)
  AUTHORS   Sung,M.W., Yang,Z., Driggers,C.M., Patton,B.L., Mostofian,B.,
            Russo,J.D., Zuckerman,D.M. and Shyng,S.L.
  TITLE     Vascular KATP channel structural dynamics reveal regulatory
            mechanism by Mg-nucleotides
  JOURNAL   Proc Natl Acad Sci U S A 118 (44) (2021)
   PUBMED   34711681
  REMARK    GeneRIF: Vascular KATP channel structural dynamics reveal
            regulatory mechanism by Mg-nucleotides.
REFERENCE   2  (bases 1 to 2274)
  AUTHORS   Yin,B., Zhang,Y., Wei,X., Pang,C., Hou,T., Yang,C., Ning,Y. and
            Fu,X.
  TITLE     The expression of ATP-sensitive potassium channels in human
            umbilical arteries with severe pre-eclampsia
  JOURNAL   Sci Rep 11 (1), 7955 (2021)
   PUBMED   33846486
  REMARK    GeneRIF: The expression of ATP-sensitive potassium channels in
            human umbilical arteries with severe pre-eclampsia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2274)
  AUTHORS   Chihara,M., Asahina,A. and Itoh,M.
  TITLE     A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of
            an ATP-sensitive potassium channel in a Japanese patient with Cantu
            syndrome
  JOURNAL   J Eur Acad Dermatol Venereol 34 (9), e476-e478 (2020)
   PUBMED   32215968
  REMARK    GeneRIF: A novel mutation in the KCNJ8 gene encoding the Kir6.1
            subunit of an ATP-sensitive potassium channel in a Japanese patient
            with Cantu syndrome.
            Erratum:[J Eur Acad Dermatol Venereol. 2021 Jan;35(1):263. doi:
            10.1111/jdv.17015.. PMID: 33617015]
REFERENCE   4  (bases 1 to 2274)
  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   5  (bases 1 to 2274)
  AUTHORS   Surah-Narwal,S., Xu,S.Z., McHugh,D., McDonald,R.L., Hough,E.,
            Cheong,A., Partridge,C., Sivaprasadarao,A. and Beech,D.J.
  TITLE     Block of human aorta Kir6.1 by the vascular KATP channel inhibitor
            U37883A
  JOURNAL   Br J Pharmacol 128 (3), 667-672 (1999)
   PUBMED   10516647
REFERENCE   6  (bases 1 to 2274)
  AUTHORS   Erginel-Unaltuna,N., Yang,W.P. and Blanar,M.A.
  TITLE     Genomic organization and expression of KCNJ8/Kir6.1, a gene
            encoding a subunit of an ATP-sensitive potassium channel
  JOURNAL   Gene 211 (1), 71-78 (1998)
   PUBMED   9573340
REFERENCE   7  (bases 1 to 2274)
  AUTHORS   Suzuki,M., Kotake,K., Fujikura,K., Inagaki,N., Suzuki,T., Gonoi,T.,
            Seino,S. and Takata,K.
  TITLE     Kir6.1: a possible subunit of ATP-sensitive K+ channels in
            mitochondria
  JOURNAL   Biochem Biophys Res Commun 241 (3), 693-697 (1997)
   PUBMED   9434770
REFERENCE   8  (bases 1 to 2274)
  AUTHORS   Inagaki,N., Inazawa,J. and Seino,S.
  TITLE     cDNA sequence, gene structure, and chromosomal localization of the
            human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8)
  JOURNAL   Genomics 30 (1), 102-104 (1995)
   PUBMED   8595887
REFERENCE   9  (bases 1 to 2274)
  AUTHORS   Grange,D.K., Nichols,C.G. and Singh,G.K.
  TITLE     Cantu Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25275207
REFERENCE   10 (bases 1 to 2274)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL546327.3, D50312.1 and
            BQ003792.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004982.3.
            
            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. Defects in
            this gene may be a cause of J-wave syndromes and sudden infant
            death syndrome (SIDS). [provided by RefSeq, May 2012].
            
            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 :: SRR1803611.245201.1,
                                           SRR1803611.65273.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000240662.3/ ENSP00000240662.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-426               AL546327.3         116-541
            427-1708            D50312.1           466-1747
            1709-2274           BQ003792.1         18-583              c
FEATURES             Location/Qualifiers
     source          1..2274
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..2274
                     /gene="KCNJ8"
                     /gene_synonym="KIR6.1; uKATP-1"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 8"
                     /db_xref="GeneID:3764"
                     /db_xref="HGNC:HGNC:6269"
                     /db_xref="MIM:600935"
     exon            1..161
                     /gene="KCNJ8"
                     /gene_synonym="KIR6.1; uKATP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            162..605
                     /gene="KCNJ8"
                     /gene_synonym="KIR6.1; uKATP-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             232..1506
                     /gene="KCNJ8"
                     /gene_synonym="KIR6.1; uKATP-1"
                     /note="inwardly rectifying potassium channel KIR6.1;
                     inward rectifier K(+) channel Kir6.1; potassium channel,
                     inwardly rectifying subfamily J member 8; potassium
                     voltage-gated channel subfamily J member 8"
                     /codon_start=1
                     /product="ATP-sensitive inward rectifier potassium channel
                     8"
                     /protein_id="NP_004973.1"
                     /db_xref="CCDS:CCDS8692.1"
                     /db_xref="GeneID:3764"
                     /db_xref="HGNC:HGNC:6269"
                     /db_xref="MIM:600935"
                     /translation="MLARKSIIPEEYVLARIAAENLRKPRIRDRLPKARFIAKSGACN
                     LAHKNIREQGRFLQDIFTTLVDLKWRHTLVIFTMSFLCSWLLFAIMWWLVAFAHGDIY
                     AYMEKSGMEKSGLESTVCVTNVRSFTSAFLFSIEVQVTIGFGGRMMTEECPLAITVLI
                     LQNIVGLIINAVMLGCIFMKTAQAHRRAETLIFSRHAVIAVRNGKLCFMFRVGDLRKS
                     MIISASVRIQVVKKTTTPEGEVVPIHQLDIPVDNPIESNNIFLVAPLIICHVIDKRSP
                     LYDISATDLANQDLEVIVILEGVVETTGITTQARTSYIAEEIQWGHRFVSIVTEEEGV
                     YSVDYSKFGNTVKVAAPRCSARELDEKPSILIQTLQKSELSHQNSLRKRNSMRRNNSM
                     RRNNSIRRNNSSLMVPKVQFMTPEGNQNTSES"
     exon            606..2274
                     /gene="KCNJ8"
                     /gene_synonym="KIR6.1; uKATP-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1661..1666
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ8"
                     /gene_synonym="KIR6.1; uKATP-1"
                     /note="hexamer: AATAAA"
     polyA_site      1680
                     /gene="KCNJ8"
                     /gene_synonym="KIR6.1; uKATP-1"
                     /note="major polyA site"
     regulatory      2255..2260
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ8"
                     /gene_synonym="KIR6.1; uKATP-1"
                     /note="hexamer: ATTAAA"
     polyA_site      2274
                     /gene="KCNJ8"
                     /gene_synonym="KIR6.1; uKATP-1"
ORIGIN      
        1 attattttaa ctcttctcct taggacacgc agcccccaat ttgtccctcc ggcctgggcg
       61 gcccctggtc ccgcgcgcca gcatgggaga gcgagggacc tgcccgcggc ccgccggcgt
      121 gtgcaaggag gtccagccgc cgcgcccgct acccggagtc tgaggacggg tgtccaggga
      181 cggagaggca ggtgagaggg aggtggctaa gctggctatg gtgacaggac gatgttggcc
      241 agaaagagta tcatcccgga ggagtatgtg ctggcgcgca tcgccgcaga gaacctgcgc
      301 aagccgcgca tccgagaccg cctccccaaa gcccgcttca tcgccaagag cggggcctgc
      361 aacctggcgc ataagaacat ccgtgagcaa ggacgctttc tacaggacat cttcaccacc
      421 ttggtggacc tgaaatggcg ccacacgctg gtcatcttta ccatgtcctt cctctgcagc
      481 tggctgctct tcgctatcat gtggtggctg gtggcctttg cccatgggga catctatgct
      541 tacatggaga aaagtggaat ggagaaaagt ggtttggagt ccactgtgtg tgtgactaat
      601 gtcaggtctt tcacttctgc ttttctcttc tccattgaag ttcaagttac cattgggttt
      661 ggagggagga tgatgacaga ggaatgccct ttggccatca cggttttgat tctccagaat
      721 attgtgggtt tgatcatcaa tgcagtcatg ttaggctgca ttttcatgaa aacagctcag
      781 gctcacagaa gggcagaaac tttgattttc agccgccatg ctgtgattgc cgtccgaaat
      841 ggcaagctgt gcttcatgtt ccgagtgggt gacctgagga aaagcatgat cattagtgcc
      901 tctgtgcgca tccaggtggt caagaaaaca actacacctg aaggggaggt ggttcctatt
      961 caccaactgg acattcctgt tgataaccca atcgagagca ataacatttt tctggtggcc
     1021 cctttgatca tctgccacgt gattgacaag cgcagtcccc tgtatgacat ctcagcaact
     1081 gacctggcca accaagactt ggaggtcata gttattctgg aaggagtggt tgaaactact
     1141 ggcatcacca cacaagcacg aacctcctac attgctgagg agatccaatg gggccaccgc
     1201 tttgtgtcca ttgtgactga ggaagaagga gtgtattctg tggattactc caaatttggc
     1261 aacactgtta aagtagctgc tccacggtgc agtgcccgag agctggatga gaaaccttcc
     1321 atccttattc agaccctcca aaagagtgaa ctgtctcatc aaaattctct gaggaagcgc
     1381 aactccatga gaagaaacaa ttccatgagg aggaacaatt ctatccgaag gaacaattct
     1441 tccctcatgg taccaaaggt gcaatttatg actccagaag gaaatcaaaa cacatcggaa
     1501 tcatgacagc aagataaccc caagacagtc ttttatcaag ttttgacggt ttatgctggg
     1561 cactgccaga ctgaaccaga gctggaacac aataatgtgt ccttctacat tttattacac
     1621 taaatgatat tcatattcaa gcaacagcac tttctgtagt aataaaaagt aacacaccaa
     1681 gtggaggatt catggcttat gcttgtttca tacatgtaga attcgcagtg atatacttaa
     1741 gttatgtgca ggggtgggta tgctcgtttc tctcaatttg aaacacaaga attacactaa
     1801 tagtaacagg ccttgagcac aaaatttggt caagaaatga gtctgtttga aatgcttagt
     1861 tggtgaaacc cagatcgctg tgttactaat gatcactctg gaaatgcaaa tagaatagga
     1921 ggggaaaaaa caaaatcatg ttaatgcgtt ttgtacatca gccttctcct gtctccatga
     1981 taactgcatt tggtaggaag cctgaggcaa aaactgctta agtggatctg tttgtaagtg
     2041 gattcagttc attcgctttg tctgtcggtg actcctgaag gtttcctggt ccatctcatt
     2101 gcggcctgtt gggcagagct ggacaaggtg tctttgaagg aaagctaagt cttgtctcat
     2161 ttaggactgg gttccccaca gtgacagtca cttccttcag catctcactt cttcttctag
     2221 aatccccaca gggaaatact gtattgaata ttttattaaa acattttctt tgta
//
