LOCUS       NP_722450                372 aa            linear   PRI 29-APR-2025
DEFINITION  ATP-sensitive inward rectifier potassium channel 1 isoform b [Homo
            sapiens].
ACCESSION   NP_722450
VERSION     NP_722450.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 372)
  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  (residues 1 to 372)
  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  (residues 1 to 372)
  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  (residues 1 to 372)
  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  (residues 1 to 372)
  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  (residues 1 to 372)
  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  (residues 1 to 372)
  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  (residues 1 to 372)
  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  (residues 1 to 372)
  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 (residues 1 to 372)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..372
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.3"
     Protein         1..372
                     /product="ATP-sensitive inward rectifier potassium channel
                     1 isoform b"
                     /note="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"
                     /calculated_mol_wt=42529
     Region          24..166
                     /region_name="IRK"
                     /note="Inward rectifier potassium channel transmembrane
                     domain; pfam01007"
                     /db_xref="CDD:460023"
     Region          173..345
                     /region_name="IRK_C"
                     /note="Inward rectifier potassium channel C-terminal
                     domain; pfam17655"
                     /db_xref="CDD:465439"
     CDS             1..372
                     /gene="KCNJ1"
                     /gene_synonym="KIR1.1; ROMK; ROMK1"
                     /coded_by="NM_153766.3:316..1434"
                     /note="isoform b is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS8477.1"
                     /db_xref="GeneID:3758"
                     /db_xref="HGNC:HGNC:6255"
                     /db_xref="MIM:600359"
ORIGIN      
        1 mfkhlrkwvv trffghsrqr arlvskdgrc niefgnveaq srfiffvdiw ttvldlkwry
       61 kmtifitafl gswfffgllw yavayihkdl pefhpsanht pcveninglt saflfsletq
      121 vtigygfrcv teqcataifl lifqsilgvi insfmcgail akisrpkkra ktitfsknav
      181 iskrggklcl lirvanlrks lligshiygk llkttvtpeg etiildqini nfvvdagnen
      241 lffispltiy hvidhnspff hmaaetllqq dfelvvfldg tvestsatcq vrtsyvpeev
      301 lwgyrfapiv sktkegkyrv dfhnfsktve vetphcamcl ynekdvrarm krgydnpnfi
      361 lsevnetddt km
//
