LOCUS       NM_153766               2539 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 1 (KCNJ1), transcript variant 4, mRNA.
ACCESSION   NM_153766
VERSION     NM_153766.3
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 2539)
  AUTHORS   Lai,X., Lu,S., Jiang,J., Zhang,H., Yang,Q., Liu,Y., Li,L., Li,S.,
            Dai,S., Chen,Y., Chen,Y., Liu,J. and Li,Y.
  TITLE     Association of polymorphisms of calcium reabsorption genes SLC12A1,
            KCNJ1 and SLC8A1 with colorectal adenoma
  JOURNAL   J Cancer Res Clin Oncol 149 (11), 8335-8344 (2023)
   PUBMED   37074453
  REMARK    GeneRIF: Association of polymorphisms of calcium reabsorption genes
            SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma.
REFERENCE   2  (bases 1 to 2539)
  AUTHORS   Krajewska,M. and Koprowski,P.
  TITLE     Solubilization, purification, and functional reconstitution of
            human ROMK potassium channel in copolymer styrene-maleic acid (SMA)
            nanodiscs
  JOURNAL   Biochim Biophys Acta Biomembr 1863 (4), 183555 (2021)
   PUBMED   33444624
  REMARK    GeneRIF: Solubilization, purification, and functional
            reconstitution of human ROMK potassium channel in copolymer
            styrene-maleic acid (SMA) nanodiscs.
REFERENCE   3  (bases 1 to 2539)
  AUTHORS   Zuo,J., Guo,W., Wang,S., Lang,Y., Wang,S., Shi,X., Zhang,R.,
            Zhao,X., Han,Y. and Shao,L.
  TITLE     Eight novel KCNJ1 variants and parathyroid hormone overaction or
            resistance in 5 probands with Bartter syndrome type 2
  JOURNAL   Clin Chim Acta 511, 248-254 (2020)
   PUBMED   33058840
  REMARK    GeneRIF: Eight novel KCNJ1 variants and parathyroid hormone
            overaction or resistance in 5 probands with Bartter syndrome type
            2.
REFERENCE   4  (bases 1 to 2539)
  AUTHORS   Laskowski,M., Augustynek,B., Bednarczyk,P., Zochowska,M.,
            Kalisz,J., O'Rourke,B., Szewczyk,A. and Kulawiak,B.
  TITLE     Single-Channel Properties of the ROMK-Pore-Forming Subunit of the
            Mitochondrial ATP-Sensitive Potassium Channel
  JOURNAL   Int J Mol Sci 20 (21), 5323 (2019)
   PUBMED   31731540
  REMARK    GeneRIF: Single-Channel Properties of the ROMK-Pore-Forming Subunit
            of the Mitochondrial ATP-Sensitive Potassium Channel.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2539)
  AUTHORS   Nandakumar,P., Morrison,A.C., Grove,M.L., Boerwinkle,E. and
            Chakravarti,A.
  TITLE     Contributions of rare coding variants in hypotension syndrome genes
            to population blood pressure variation
  JOURNAL   Medicine (Baltimore) 97 (33), e11865 (2018)
   PUBMED   30113482
  REMARK    GeneRIF: We replicated the methods in a previous study to detect
            rare and potentially loss-of-function variants in SLC12A3, SLC12A1,
            and KCNJ1 reducing blood pressure in variant carriers as compared
            with noncarriers using whole exome sequencing data. Our study
            confirmed that SLC12A3, SLC12A1, and KCNJ1 are indeed genes
            protective of hypertension in the general population.
REFERENCE   6  (bases 1 to 2539)
  AUTHORS   Xu,Z.C., Yang,Y. and Hebert,S.C.
  TITLE     Phosphorylation of the ATP-sensitive, inwardly rectifying K+
            channel, ROMK, by cyclic AMP-dependent protein kinase
  JOURNAL   J Biol Chem 271 (16), 9313-9319 (1996)
   PUBMED   8621594
REFERENCE   7  (bases 1 to 2539)
  AUTHORS   Krishnan,S.N., Desai,T., Ward,D.C. and Haddad,G.G.
  TITLE     Isolation and chromosomal localization of a human ATP-regulated
            potassium channel
  JOURNAL   Hum Genet 96 (2), 155-160 (1995)
   PUBMED   7635463
REFERENCE   8  (bases 1 to 2539)
  AUTHORS   Shuck,M.E., Bock,J.H., Benjamin,C.W., Tsai,T.D., Lee,K.S.,
            Slightom,J.L. and Bienkowski,M.J.
  TITLE     Cloning and characterization of multiple forms of the human kidney
            ROM-K potassium channel
  JOURNAL   J Biol Chem 269 (39), 24261-24270 (1994)
   PUBMED   7929082
REFERENCE   9  (bases 1 to 2539)
  AUTHORS   Yano,H., Philipson,L.H., Kugler,J.L., Tokuyama,Y., Davis,E.M., Le
            Beau,M.M., Nelson,D.J., Bell,G.I. and Takeda,J.
  TITLE     Alternative splicing of human inwardly rectifying K+ channel ROMK1
            mRNA
  JOURNAL   Mol Pharmacol 45 (5), 854-860 (1994)
   PUBMED   8190102
REFERENCE   10 (bases 1 to 2539)
  AUTHORS   Ho,K., Nichols,C.G., Lederer,W.J., Lytton,J., Vassilev,P.M.,
            Kanazirska,M.V. and Hebert,S.C.
  TITLE     Cloning and expression of an inwardly rectifying ATP-regulated
            potassium channel
  JOURNAL   Nature 362 (6415), 31-38 (1993)
   PUBMED   7680431
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U12542.1, U03884.1, BC063109.1
            and AW611934.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_153766.2.
            
            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. It is activated by
            internal ATP and probably plays an important role in potassium
            homeostasis. The encoded protein has a greater tendency to allow
            potassium to flow into a cell rather than out of a cell. Mutations
            in this gene have been associated with antenatal Bartter syndrome,
            which is characterized by salt wasting, hypokalemic alkalosis,
            hypercalciuria, and low blood pressure. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4, also known as rom-k4) differs
            in the 5' UTR and coding region compared to variant 1. The
            resulting isoform (b) is shorter at the N-terminus than isoform a.
            Variants 2, 4 and 5 all encode isoform b but differ in their 5'
            UTRs.
            
            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 :: SRR14038197.124489.1, DA623682.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392666.6/ ENSP00000376434.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 U12542.1           78-80
            4-124               U03884.1           28-148
            125-2537            BC063109.1         336-2748
            2538-2539           AW611934.1         12-13               c
FEATURES             Location/Qualifiers
     source          1..2539
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.3"
     gene            1..2539
                     /gene="KCNJ1"
                     /gene_synonym="KIR1.1; ROMK; ROMK1"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 1"
                     /db_xref="GeneID:3758"
                     /db_xref="HGNC:HGNC:6255"
                     /db_xref="MIM:600359"
     exon            1..124
                     /gene="KCNJ1"
                     /gene_synonym="KIR1.1; ROMK; ROMK1"
                     /inference="alignment:Splign:2.1.0"
     exon            125..294
                     /gene="KCNJ1"
                     /gene_synonym="KIR1.1; ROMK; ROMK1"
                     /inference="alignment:Splign:2.1.0"
     exon            295..2539
                     /gene="KCNJ1"
                     /gene_synonym="KIR1.1; ROMK; ROMK1"
                     /inference="alignment:Splign:2.1.0"
     CDS             316..1434
                     /gene="KCNJ1"
                     /gene_synonym="KIR1.1; ROMK; ROMK1"
                     /note="isoform b is encoded by transcript variant 4;
                     ATP-regulated potassium channel ROM-K; potassium
                     voltage-gated channel subfamily J member 1; inwardly
                     rectifying K+ channel; ATP-sensitive inward rectifier
                     potassium channel 1; inward rectifier K(+) channel Kir1.1;
                     potassium channel, inwardly rectifying subfamily J member
                     1"
                     /codon_start=1
                     /product="ATP-sensitive inward rectifier potassium channel
                     1 isoform b"
                     /protein_id="NP_722450.1"
                     /db_xref="CCDS:CCDS8477.1"
                     /db_xref="GeneID:3758"
                     /db_xref="HGNC:HGNC:6255"
                     /db_xref="MIM:600359"
                     /translation="MFKHLRKWVVTRFFGHSRQRARLVSKDGRCNIEFGNVEAQSRFI
                     FFVDIWTTVLDLKWRYKMTIFITAFLGSWFFFGLLWYAVAYIHKDLPEFHPSANHTPC
                     VENINGLTSAFLFSLETQVTIGYGFRCVTEQCATAIFLLIFQSILGVIINSFMCGAIL
                     AKISRPKKRAKTITFSKNAVISKRGGKLCLLIRVANLRKSLLIGSHIYGKLLKTTVTP
                     EGETIILDQININFVVDAGNENLFFISPLTIYHVIDHNSPFFHMAAETLLQQDFELVV
                     FLDGTVESTSATCQVRTSYVPEEVLWGYRFAPIVSKTKEGKYRVDFHNFSKTVEVETP
                     HCAMCLYNEKDVRARMKRGYDNPNFILSEVNETDDTKM"
     regulatory      2520..2525
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ1"
                     /gene_synonym="KIR1.1; ROMK; ROMK1"
                     /note="hexamer: AGTAAA"
     polyA_site      2539
                     /gene="KCNJ1"
                     /gene_synonym="KIR1.1; ROMK; ROMK1"
                     /note="major polyA site"
ORIGIN      
        1 acctagcata tccaaactct tgcatcaaag gtgcagggac ttgctcacat cgagaatctg
       61 gttgctttct tggagaccaa gaaaatgagt ttttgtttct acatttactc cagcaatcca
      121 tgaggtttct tctctactgt gccttcatcc ccatcctggg ccctgacaaa gacagtgtga
      181 caagttctga gccccacagg tggaatccca aaccaagcag ctcttgctgg tcaccccaag
      241 atctacttat acatgaagtt ttgaaaatca tctcctgaac ctcttctgac agagatcagg
      301 gtgttgacag aaagtatgtt caaacatctt cggaaatggg tcgtcactcg cttttttggg
      361 cattctcggc aaagagcaag gctagtctcc aaagatggaa ggtgcaacat agaatttggc
      421 aatgtggagg cacagtcaag gtttatattc tttgtggaca tctggacaac ggtacttgac
      481 ctcaagtgga gatacaaaat gaccattttc atcacagcct tcttggggag ttggtttttc
      541 tttggtctcc tgtggtatgc agtagcgtac attcacaaag acctcccgga attccatcct
      601 tctgccaatc acactccctg tgtggagaat attaatggct tgacctcagc ttttctgttt
      661 tctctggaga ctcaagtgac cattggatat ggattcaggt gtgtgacaga acagtgtgcc
      721 actgccattt ttctgcttat ctttcagtct atacttggag ttataatcaa ttctttcatg
      781 tgtggggcca tcttagccaa gatctccagg cccaaaaaac gtgccaagac cattacgttc
      841 agcaagaacg cagtgatcag caaacgggga gggaagcttt gcctcctaat ccgagtggct
      901 aatctcagga agagccttct tattggcagt cacatttatg gaaagcttct gaagaccaca
      961 gtcactcctg aaggagagac cattattttg gaccagatca atatcaactt tgtagttgac
     1021 gctgggaatg aaaatttatt cttcatctcc ccattgacaa tttaccatgt cattgatcac
     1081 aacagccctt tcttccacat ggcagcggag acccttctcc agcaggactt tgaattagtg
     1141 gtgtttttag atggcacagt ggagtccacc agtgctacct gccaagtccg gacatcctat
     1201 gtcccagagg aggtgctttg gggctaccgt tttgctccca tagtatccaa gacaaaggaa
     1261 gggaaatacc gagtggattt ccataacttt agcaagacag tggaagtgga gacccctcac
     1321 tgtgccatgt gcctttataa tgagaaagat gttagagcca ggatgaagag aggctatgac
     1381 aaccccaact tcatcttgtc agaagtcaat gaaacagatg acaccaaaat gtaacagtgg
     1441 cttttcaacg ggagtaaagc aaagtctcta aagctcctag tacctagaag cattatgaag
     1501 cagtcaacaa tttaggggta cgaaagtagg atgagagcct tcaaagtcta ccagcacaaa
     1561 gacccctgag ccccgcaatt gtgatcccac aagacatgca tctccacaag gctactgtat
     1621 tagaacgtgc aatgcattta tatgaaactg gtgtatggaa gacataggtg ctctcttgaa
     1681 atcttaaata tgattatttg agctcatata aggtggattg gagcagataa aattatcaaa
     1741 agtttcatga acaggccaaa caaaatattt tttaaagttt ccttaaagaa gttatgaact
     1801 ttagaaagga tcaggggaca ataataatct cattttgatt ctactgataa gaatgactcc
     1861 acttttaatg tggactttta ctcatggaaa aattgtctcc taatttgggg agatgaacca
     1921 accaatcaat gacaagaaaa cgcttacaca aagaacaatt tgaggctcta agcttctcat
     1981 gtggtacgtt tagacagagg ctaaatctgc acactagaat cttgatgata ccttcctgca
     2041 agacagaatg ctttagttaa aagtggtgat gatatttctt tcaatctgta ttggatggct
     2101 taaagggcta taaatctgtt tataaagagc atttcctgct cttcgaagac agcaatgagg
     2161 agttggaagg tgcaaagtca gtagagaagg gaatgtatca ttaatgcacc tgagaagaaa
     2221 cagtttcatg tgttcctcca cctagagttt gtactggaat gctatttcta aagaagaagt
     2281 gggaaagaga gaggaatggg atggagcccc acagtcagaa tgttactatg tctttctttc
     2341 cctgacagcc catcttccta aaagggacca gcttatggaa ggctcgacct tgaggggaaa
     2401 gttttactgt gaaagtcttc ttcagatccc cacctgcatc attccgaatg tgtcctggaa
     2461 aaaaactggt actcaaagct gcttaggaat caaaatgttt tcagtgtgtt gattaatata
     2521 gtaaatttct gaaactgtg
//
