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    KCNJ1 potassium inwardly-rectifying channel, subfamily J, member 1 [ Homo sapiens ]

    Gene ID: 3758, updated on 11-May-2012
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    Summary

    Official Symbol
    KCNJ1provided by HGNC
    Official Full Name
    potassium inwardly-rectifying channel, subfamily J, member 1provided by HGNC
    Primary source
    HGNC:6255
    See related
    Ensembl:ENSG00000151704; HPRD:08981; MIM:600359; Vega:OTTHUMG00000048247
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ROMK; ROMK1; KIR1.1
    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]
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    Genomic context

    Location :
    11q24
    Sequence :
    Chromosome: 11; NC_000011.9 (128707915..128737268, complement)
    See KCNJ1 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) Neighboring gene uncharacterized LOC100507392 Neighboring gene Friend leukemia virus integration 1 Neighboring gene chromosome 11 open reading frame 45 Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 5 Neighboring gene tumor protein p53 regulated apoptosis inducing protein 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening. Urbanová M, et al. Folia Biol (Praha), 2011. PMID 21631963.
    2. Activation of PI3-kinase stimulates endocytosis of ROMK via Akt1/SGK1-dependent phosphorylation of WNK1. Cheng CJ, et al. J Am Soc Nephrol, 2011 Mar. PMID 21355052.
    3. Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. Renigunta A, et al. J Biol Chem, 2011 Jan 21. PMID 21081491.
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.
    5. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. Yokoyama K, et al. Nephron Clin Pract, 2010. PMID 20424473.

    See all (45) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. no mutation in the KCNJ1 gene, among patients suffering from bartter and Gitelman syndromes
      Title: DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.
    2. PI3K-activating hormones inhibit ROMK by enhancing its endocytosis via a mechanism that involves phosphorylation of WNK1 by Akt1 and SGK1.
      Title: Activation of PI3-kinase stimulates endocytosis of ROMK via Akt1/SGK1-dependent phosphorylation of WNK1.
    3. THGP modulation of ROMK function confers a new role of THGP on renal ion transport and may contribute to salt wasting observed in FJHN/MCKD-2/GCKD patients.
      Title: Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function.
    4. KCNJ1 mutations are associated with Bartter syndrome.
      Title: Long-term follow-up of patients with Bartter syndrome type I and II.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. POSH inhibits ROMK channels by enhancing dynamin-dependent and clathrin-independent endocytosis and by stimulating ubiquitination of ROMK channels.
      Title: POSH stimulates the ubiquitination and the clathrin-independent endocytosis of ROMK1 channels.
    8. c-Src inhibits SGK1-mediated phosphorylation hereby restoring the WNK4-mediated inhibition of ROMK channels thus suppressing K secretion.
      Title: Src family protein tyrosine kinase (PTK) modulates the effect of SGK1 and WNK4 on ROMK channels.
    9. In a large cohort of ante/neonatal Bartter syndrome, deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively.
      Title: Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
    10. Regulation of renal outer medullary potassium channel and renal K(+) excretion by Klotho.
      Title: Regulation of renal outer medullary potassium channel and renal K(+) excretion by Klotho.
    Submit: New GeneRIF Correction See all (27)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Bartter syndrome, type 2

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000211.1 NP_004243.1 SLC9A3R1    BIND  PubMed An unspecified isoform of ROMK interacts with NHERF-1. This interaction was modeled on a demonstrated interaction between Rat ROMK2 and Human NHERF-1. 
    NP_000211.1 NP_004776.1 SLC9A3R2    BIND  PubMed ROMK interacts with NHERF-2. This interaction was modeled on a demonstrated interaction between rat ROMK2, and human NHERF-2. 
    P48048 Q08378 GOLGA3    HPRD  PubMed  
    P48048 Q05655 PRKCD    HPRD  PubMed  
    P48048 O00141 SGK1    HPRD  PubMed  
    P48048 O14745 SLC9A3R1    HPRD  PubMed  
    P48048 Q15599 SLC9A3R2    HPRD  PubMed  
    BioGRID:109960 BioGRID:107506 CFTR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109960 BioGRID:109816 IL16    BioGRID  PubMed Two-hybrid 
    BioGRID:109960 BioGRID:121673 SH3RF1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:109960 BioGRID:114769 SLC9A3R1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:109960 BioGRID:114754 SLC9A3R2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:109960 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Aldosterone-regulated sodium reabsorption, organism-specific biosystem (from KEGG)
      Aldosterone-regulated sodium reabsorption, organism-specific biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
    • Aldosterone-regulated sodium reabsorption, conserved biosystem (from KEGG)
      Aldosterone-regulated sodium reabsorption, conserved biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
    • Gastric acid secretion, organism-specific biosystem (from KEGG)
      Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Gastric acid secretion, conserved biosystem (from KEGG)
      Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Inwardly rectifying K+ channels, organism-specific biosystem (from REACTOME)
      Inwardly rectifying K+ channels, organism-specific biosystemInwardly rectifying K+ channels (Kir channels) show an inward rather than outward (like the voltage gated K+ channels) flow of K+ thereby contributing to maintenance of resting membrane potential an...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Potassium Channels, organism-specific biosystem (from REACTOME)
      Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
    • Potassium transport channels, organism-specific biosystem (from REACTOME)
      Potassium transport channels, organism-specific biosystemInwardly rectifying potassium transport are tetrameric channels that are found in kidney in the nephron. Kir 1.1 works as a homotetramer, however, Kir 4.1 and 5.1 work as heterotetramers. These chann...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    inward rectifier potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    excretion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    voltage-gated potassium channel complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    ATP-sensitive inward rectifier potassium channel 1
    Names
    ATP-sensitive inward rectifier potassium channel 1
    inwardly rectifying K+ channel
    inward rectifier K(+) channel Kir1.1
    ATP-regulated potassium channel ROM-K
    potassium channel, inwardly rectifying subfamily J member 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009379.1 RefSeqGene

      Range
      5001..34354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000220.2 → NP_000211.1  ATP-sensitive inward rectifier potassium channel 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (rom-k1) encodes the longer isoform (a).
      Source sequence(s)
      BE466312, U03884, U12541
      Consensus CDS
      CCDS8476.1
      UniProtKB/Swiss-Prot
      P48048
      Related
      ENSP00000376432, OTTHUMP00000230984, ENST00000392664, OTTHUMT00000386233
      Conserved Domains (1) summary
      cl11596
      Location:43 – 380
      Blast Score: 1385
      Ion_trans_2; Ion channel

    2. NM_153764.1 → NP_722448.1  ATP-sensitive inward rectifier potassium channel 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (rom-k2) 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 rom-k2, rom-k3, rom-k4, and rom-k5 all encode isoform b but differ in their 5' UTRs.
      Source sequence(s)
      BE466312, U03884, U12542
      Consensus CDS
      CCDS8477.1
      UniProtKB/Swiss-Prot
      P48048
      Related
      ENSP00000376433, OTTHUMP00000230982, ENST00000392665, OTTHUMT00000386231
      Conserved Domains (1) summary
      cl11596
      Location:24 – 361
      Blast Score: 1385
      Ion_trans_2; Ion channel

    3. NM_153765.1 → NP_722449.2  ATP-sensitive inward rectifier potassium channel 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (rom-k3) 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 rom-k2, rom-k3, rom-k4, and rom-k5 all encode isoform b but differ in their 5' UTRs.
      Source sequence(s)
      BE466312, U03884, U12542
      Consensus CDS
      CCDS8477.1
      UniProtKB/Swiss-Prot
      P48048
      Related
      ENSP00000406320, OTTHUMP00000230983, ENST00000440599, OTTHUMT00000386232
      Conserved Domains (1) summary
      cl11596
      Location:24 – 361
      Blast Score: 1385
      Ion_trans_2; Ion channel

    4. NM_153766.1 → NP_722450.1  ATP-sensitive inward rectifier potassium channel 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (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 rom-k2, rom-k3, rom-k4, and rom-k5 all encode isoform b but differ in their 5' UTRs.
      Source sequence(s)
      BE466312, U03884, U12542, U12544
      Consensus CDS
      CCDS8477.1
      UniProtKB/Swiss-Prot
      P48048
      Related
      ENSP00000376434, ENST00000392666
      Conserved Domains (1) summary
      cl11596
      Location:24 – 361
      Blast Score: 1385
      Ion_trans_2; Ion channel

    5. NM_153767.2 → NP_722451.1  ATP-sensitive inward rectifier potassium channel 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (rom-k5) 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 rom-k2, rom-k3, rom-k4, and rom-k5 all encode isoform b but differ in their 5' UTRs.
      Source sequence(s)
      BE466312, U03884, U12542, U12545
      Consensus CDS
      CCDS8477.1
      UniProtKB/Swiss-Prot
      P48048
      Related
      ENSP00000316233, OTTHUMP00000045938, ENST00000324036, OTTHUMT00000109747
      Conserved Domains (1) summary
      cl11596
      Location:24 – 361
      Blast Score: 1385
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p5 Primary Assembly

      Range
      128707915..128737268, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      124655625..124684981, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AP000920.4 (29710..31154) None
    genomic AP001122.5 (189484..217392) None
    genomic CH471065.1 EAW67721.1
      EAW67722.1
      EAW67723.1
      EAW67724.1
      EAW67725.1
    genomic U65406.1 AAC51220.1
      AAC51221.1
      AAC51222.1
    mRNA AK290797.1 BAF83486.1
    mRNA AK308032.1 None
    mRNA AK308033.1 None
    mRNA AK314267.1 None
    mRNA BC063109.1 None
    mRNA BC074752.2 AAH74752.1
    mRNA BC136360.1 AAI36361.1
    mRNA BC136361.1 AAI36362.1
    mRNA BE466312.1 None
    mRNA S78737.1 AAB35012.1
    mRNA U03884.1 AAA20594.1
    mRNA U12541.1 AAA61712.1
    mRNA U12542.1 AAA61713.1
    mRNA U12543.1 AAA61714.1
    mRNA U12544.1 AAA61715.1
    mRNA U12545.1 AAA61716.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48048.1 GenPept UniProtKB/Swiss-Prot:P48048
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
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