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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNJ1 Gene

protein-coding   GIFtS: 67
GCID: GC11M128706

Potassium Inwardly-Rectifying Channel, Subfamily J, Member...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 11 2     KIR1.12
ROMK12 3 5     ROMK2
Inward Rectifier K(+) Channel Kir1.12 3     ATP-Sensitive Inward Rectifier Potassium Channel 12
Potassium Channel, Inwardly Rectifying Subfamily J Member 12 3     Inwardly Rectifying K+ Channel2
ATP-Regulated Potassium Channel ROM-K2 3     

External Ids:    HGNC: 62551   Entrez Gene: 37582   Ensembl: ENSG000001517047   OMIM: 6003595   UniProtKB: P480483   

Export aliases for KCNJ1 gene to outside databases

Previous GC identifers: GC11M130709 GC11M130220 GC11M128741 GC11M128245 GC11M128213 GC11M124655


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNJ1 Gene:
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)

GeneCards Summary for KCNJ1 Gene: 
KCNJ1 (potassium inwardly-rectifying channel, subfamily J, member 1) is a protein-coding gene. Diseases associated with KCNJ1 include bartter disease, and bartter syndrome antenatal type 2, and among its related super-pathways are Activation of G protein gated Potassium channels and Transmission across Chemical Synapses. GO annotations related to this gene include inward rectifier potassium channel activity and ATP binding. An important paralog of this gene is KCNJ4.

UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048
Function: In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels
are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their
voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised,
the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due
to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be
blocked by external barium

summary for KCNJ1 Gene:
The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong
inward-rectifier channels (KIR2.x), the G-protein-activated inward-rectifier channels (KIR3.x) and the
ATP-sensitive channels (KIR6.x, which combine with sulphonylurea receptors (SUR)). Structurally, the
pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two
membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each
subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within
subfamilies, e.g. KIR3.2 with KIR3.3.

Gene Wiki entry for KCNJ1 (ROMK) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNJ1 gene promoter:
         MZF-1   GR   Pax-6   GR-beta   IRF-1   GR-alpha   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNJ1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNJ1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q24   Ensembl cytogenetic band:  11q24.3   HGNC cytogenetic band: 11q24

KCNJ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M128706:  view genomic region     (about GC identifiers)

Start:
128,706,210 bp from pter      End:
128,737,268 bp from pter
Size:
31,059 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048 (See protein sequence)
Recommended Name: ATP-sensitive inward rectifier potassium channel 1  
Size: 391 amino acids; 44795 Da
Subunit: Interacts with SGK1 and SLC9A3R2/NHERF2
Subcellular location: Cell membrane; Multi-pass membrane protein. Note=Phosphorylation at Ser-44 by SGK1 is
necessary for its expression at the cell membrane
Secondary accessions: B2RMR4 Q6LD67
Alternative splicing: 3 isoforms:  P48048-1   P48048-2   P48048-3   

Explore the universe of human proteins at neXtProt for KCNJ1: NX_P48048

Explore proteomics data for KCNJ1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48048

  • KCNJ1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNJ1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000211.1  NP_722448.1  NP_722449.3  NP_722450.1  NP_722451.1  

    ENSEMBL proteins: 
     ENSP00000376433   ENSP00000406320   ENSP00000316233   ENSP00000376432   ENSP00000316136  
     ENSP00000376434  
    Reactome Protein details: P48048
    Human Recombinant Protein Products for KCNJ1: 
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    Cloud-Clone Corp. Proteins for KCNJ1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex TAS9015377
    GO:0016021integral to membrane ----

    KCNJ1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KCN: Potassium channels
    KCNJ: Voltage-gated ion channels / Potassium channels, Inwardly rectifying

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kir1.1 
    Inwardly rectifying potassium channels

    4 InterPro protein domains:
     IPR003268 K_chnl_inward-rec_Kir1.1
     IPR014756 Ig_E-set
     IPR013518 K_chnl_inward-rec_Kir_cyto
     IPR016449 K_chnl_inward-rec_Kir

    Graphical View of Domain Structure for InterPro Entry P48048

    ProtoNet protein and cluster: P48048

    2 Blocks protein domains:
    IPB001838 Inward rectifier K+ channel superfamily signature
    IPB003268 Kir1.1 inward rectifier K+ channel signature


    UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048
    Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily


    KCNJ1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IRK1_HUMAN, P48048
    Function: In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels
    are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their
    voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised,
    the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due
    to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be
    blocked by external barium
    Enzyme regulation: Inhibited by WNK3

         Genatlas biochemistry entry for KCNJ1:
    potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 1,ATP-regulated,expressed in the kidney
    in the apical membrane thick ascending limb of the loop of Henle regulating SLC12A1 functioning

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity IEA--
    GO:0005524ATP binding IEA--
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IDA12086641
         
    KCNJ1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNJ1:
     Increased circadian period len 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnj1):
     behavior/neurological  cardiovascular system  growth/size  hematopoietic system  homeostasis/metabolism 
     integument  mortality/aging  renal/urinary system 

    KCNJ1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KCNJ1: Kcnj1tm1Ges Kcnj1tm1Lex

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    hsa-miR-145* hsa-miR-548t hsa-miR-27a hsa-miR-936 hsa-miR-624* hsa-miR-27b hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidKCNJ1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNJ1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Inwardly rectifying K+ channels
    Inwardly rectifying K+ channels0.81
    2Transmission across Chemical Synapses
    Neuronal System0.67
    3Potassium Channels
    Potassium Channels0.43
    4Gastric acid secretion
    Gastric acid secretion0.34
    5Potassium transporters: inward current
    Potassium transporters: inward current

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KCNJ1
        Potassium transporters- inward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNJ1
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    4        Reactome Pathways for KCNJ1
        Potassium Channels
    Potassium transport channels
    Neuronal System
    Inwardly rectifying K+ channels

    1 PharmGKB Pathway for KCNJ1
        Diuretics Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for KCNJ1):
        Aldosterone-regulated sodium reabsorption
    Gastric acid secretion


    KCNJ1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNJ1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/10 Interacting proteins for KCNJ1 (P480483 ENSP000003161364) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC9A3R1O147453, ENSP000002626134I2D: score=3 STRING: ENSP00000262613
    CFTRP135693, ENSP000000030844I2D: score=1 STRING: ENSP00000003084
    GOLGA3Q083783, ENSP000002047264I2D: score=1 STRING: ENSP00000204726
    IL16Q140053, ENSP000003029354I2D: score=1 STRING: ENSP00000302935
    PRKCDQ056553, ENSP000003316024I2D: score=1 STRING: ENSP00000331602
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:0001894tissue homeostasis IEA--
    GO:0006813potassium ion transport TAS9015377
    GO:0007268synaptic transmission TAS--
    GO:0007588excretion TAS9015377

    KCNJ1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNJ1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNJ1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    LevcromakalimKir6 (KATP) channel opener. Active enantiomer of cromakalim (Cat. No. 1377)[94535-50-9]
    DiazoxideBlocks desensitization of AMPA receptors[364-98-7]
    GlibenclamideKir6 (KATP) channel blocker[10238-21-8]
    P1075Potent Kir6 (KATP) channel opener[60559-98-0]
    Tertiapin-QSelective blocker of inward-rectifier K+ channels[252198-49-5]

    2 HMDB Compounds for KCNJ1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    PotassiumK+ (see all 16)7440-09-7--

    9 DrugBank Compounds for KCNJ1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GlycodiazineGlidiazine (see all 2)339-44-6targetother/unknown17139284 16263802 17016423 20434356 134717 17015627 16470247
    MinoxidilMinossidile [Italian] (see all 2)38304-91-5targetinducer1601843 9579735 16169954 17139284 17016423 9646008 18602898
    GlimepirideGlimepirid (see all 4)93479-97-1targetinhibitor12703060 17139284 17016423 12475777
    Tolazamide-- 1156-19-0targetinhibitor10354277 17139284 8799949 17016423
    Tolbutamide-- 64-77-7targetinhibitor9647478 10455193 11226127
    Acetohexamide-- 968-81-0targetinhibitor17139284 17016423
    BethanidineBetanidine (see all 2)55-73-2targetinhibitor3167688 2157221
    GlyburideApo-Glibenclamide (see all 4)10238-21-8targetinhibitor16263802 16470247
    Agmatine-- 306-60-5targetantagonist8922740

    1 IUPHAR Ligand for KCNJ1 (Kir1.1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    Ba2+
    Pore BlockerAntagonist7929082

    10/14 Novoseek inferred chemical compound relationships for KCNJ1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 76.6 85 12547773 (4), 19710010 (3), 10793021 (2), 19458126 (2) (see all 41)
    chloride 56.2 7 17872384 (1), 12920401 (1), 10561751 (1), 19096086 (1)
    nacl 52.7 10 12684516 (1), 19587141 (1), 15998707 (1), 20375989 (1) (see all 8)
    lysine 52.5 7 15767585 (3), 8861938 (1)
    katp 44.9 5 15980413 (2), 9261988 (2), 12381730 (1)
    sodium 40.6 5 9261995 (1), 16785747 (1), 15987778 (1), 19706730 (1)
    pip2 39.6 4 10318968 (3)
    biotin 27.7 5 11719519 (2), 12221079 (1), 15767585 (1)
    atp 22.6 13 12381730 (4), 8710944 (2), 8770158 (2), 9707637 (1) (see all 6)
    serine 9.87 7 12221079 (4), 8683463 (1)

    Search CenterWatch for drugs/clinical trials and news about KCNJ1 / IRK1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for KCNJ1 gene (5 alternative transcripts): 
    NM_000220.4  NM_153764.2  NM_153765.2  NM_153766.2  NM_153767.3  

    Unigene Cluster for KCNJ1:

    Potassium inwardly-rectifying channel, subfamily J, member 1
    Hs.527830  [show with all ESTs]
    Unigene Representative Sequence: BC063109
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392665 ENST00000440599(uc001qeq.1) ENST00000324036 ENST00000392664
    ENST00000324003 ENST00000531562 ENST00000392666(uc001qeo.1 uc001qep.1 uc001qer.1 uc001qes.1)

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    Additional mRNA sequence: 

    AK290797.1 AK308032.1 AK308033.1 AK314267.1 BC063109.1 BC074752.2 BC136360.1 BC136361.1 
    S78737.1 U03884.1 U12541.1 U12542.1 U12543.1 U12544.1 U12545.1 

    5 DOTS entries:

    DT.92421395  DT.98131927  DT.92421389  DT.87046667  DT.95170907 

    24/45 AceView cDNA sequences (see all 45):

    U12544 NM_153765 AA741359 NM_153766 AI580376 NM_153767 NM_000220 NM_153764 
    BX111481 AW611523 AW204788 AI474674 U03884 AI478535 BC063109 BC074752 
    BV199124 BE552450 BX499089 AI795925 BE466312 AW271978 AI580319 U12543 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ1 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f
    SP1:                    -           -                                       
    SP2:              -     -           -                                       
    SP3:                    -     -     -                                       
    SP4:              -                 -                                       
    SP5:                                                                        


    ECgene alternative splicing isoforms for KCNJ1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNJ1 expression in normal human tissues (normalized intensities)      KCNJ1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTCCTCCA
    KCNJ1 Expression
    About this image


    KCNJ1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Kidney (Urinary System)
             Loop of Henle Cells Loop of Henle

    See KCNJ1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNJ1

    SOURCE GeneReport for Unigene cluster: Hs.527830

    UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048
    Tissue specificity: In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain,
    heart and liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including KCNJ1: 
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              Osmotic Stress in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCNJ1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnj11 , 5 potassium inwardly-rectifying channel, subfamily J, more1, 5 86.79(n)1
    90.79(a)1
      9 (17.69 cM)5
    563791  NM_001168354.11  NP_001161826.11 
     323724185 
    chicken
    (Gallus gallus)
    Aves KCNJ11 potassium inwardly-rectifying channel, subfamily J, more 79.69(n)
    85.71(a)
      428236  XM_425795.2  XP_425795.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNJ16
    Uncharacterized protein
    80(a)
    1 ↔ 1
    GL343197.1(4325581-4326765)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635342 similar to potassium inwardly-rectifying channel, subfamily more 74.03(n)   394010  AY394568.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Irk33 inward rectifier potassium channel 33(a)   37A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea irk-26
    irk-16
    Protein IRK-1
    31(a)
    25(a)
    many ↔ many
    many ↔ many
    X(702974-710007)
    X(6766579-6772946)


    ENSEMBL Gene Tree for KCNJ1 (if available)
    TreeFam Gene Tree for KCNJ1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNJ1 gene
    KCNJ42  KCNJ92  KCNJ162  KCNJ82  KCNJ122  KCNJ152  KCNJ52  KCNJ62  
    KCNJ22  KCNJ102  KCNJ142  KCNJ32  KCNJ112  
    16 SIMAP similar genes for KCNJ1 using alignment to 1 protein entry:     IRK1_HUMAN:
    KCNJ15    KCNJ10    KCNJ3    KCNJ11    KCNJ5    KCNJ6
    KCNJ12    KCNJ8    KCNJ18    KCNJ9    kcnj12x    KCNJ14
    KCNJ4    KCNJ16    KCNJ2    KCNJ13

    KCNJ1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/866 SNPs in KCNJ1 are shown (see all 866)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0015504
    Bartter syndrome 2 (BS2)4--see VAR_0015502 W C mis40--------
    VAR_0197264
    Bartter syndrome 2 (BS2)4--see VAR_0197262 S R mis40--------
    VAR_0015564
    Bartter syndrome 2 (BS2)4--see VAR_0015562 V G mis40--------
    VAR_0015534
    Bartter syndrome 2 (BS2)4--see VAR_0015532 V E mis40--------
    VAR_0015514
    Bartter syndrome 2 (BS2)4--see VAR_0015512 D H mis40--------
    VAR_0197244
    Bartter syndrome 2 (BS2)4--see VAR_0197242 N K mis40--------
    VAR_0364264
    A breast cancer sample4--see VAR_0364262 S F mis40--------
    VAR_0015524
    Bartter syndrome 2 (BS2)4--see VAR_0015522 P L mis40--------
    VAR_0197254
    Bartter syndrome 2 (BS2)4--see VAR_0197252 A V mis40--------
    VAR_0015484
    Bartter syndrome 2 (BS2)4--see VAR_0015482 V E mis40--------

    HapMap Linkage Disequilibrium report for KCNJ1 (128706210 - 128737268 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KCNJ1: --

    Human Gene Mutation Database (HGMD): KCNJ1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNJ1
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNJ1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600359   
    OMIM disorders: 241200  
    UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048
  • Bartter syndrome 2 (BS2) [MIM:241200]: An autosomal recessive disorder characterized by impaired salt
    reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis,
    and varying degrees of hypercalciuria. Bartter syndrome type 2 is a life-threatening condition beginning in
    utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a
    marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for KCNJ1:    About MalaCards
    bartter disease    bartter syndrome antenatal type 2    bartter syndrome, type 2    gitelman syndrome
    hypokalemia    pseudohypoaldosteronism type ii    nephrocalcinosis    pseudohypoaldosteronism
    polyhydramnios    hyperaldosteronism    nephrolithiasis    cystic fibrosis
    hyperparathyroidism    essential hypertension    hypertension    pancreatitis
    neuronitis

    7 diseases from the University of Copenhagen DISEASES database for KCNJ1:
    Bartter disease     Gitelman syndrome     Pseudohypoaldosteronism     Hypokalemia
    Polyhydramnios     Nephrocalcinosis     Hyperaldosteronism

    KCNJ1 for disorders           About GeneDecksing

    10/16 Novoseek inferred disease relationships for KCNJ1 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bartters syndrome 95.7 45 12589089 (3), 9848791 (3), 10878442 (2), 17401586 (2) (see all 29)
    hyperprostaglandin e syndrome 95.4 6 11318951 (1), 9587066 (1), 12911542 (1), 15895241 (1) (see all 5)
    bartter syndrome, classic 93.2 1 15056980 (1)
    gitelman syndrome 90.6 3 15980941 (1), 12911530 (1), 15056980 (1)
    pseudohypoaldosteronism 90.6 3 17401586 (1), 12589089 (1), 19448535 (1)
    metabolic alkalosis 81.6 1 9261995 (1)
    nephrocalcinosis 80.5 3 19096086 (2), 9519207 (1)
    hypercalciuria 80.5 1 9519207 (1)
    hyperkalemia 78 10 12640382 (2), 12589089 (2), 19448535 (2), 19096086 (2) (see all 5)
    hypokalemia 70.2 1 19448535 (1)

    Genatlas disease: KCNJ1
    Bartter syndrome characterized by an hypokalemic,hypochloremic metabolic alkalosis with
    hyperkaliury,hyperexcretion of prostaglandin E,hyperreninemia hyperaldosteronism with normal blood
    pressure,insensitivity to AGT2,and hyperplasia of juxtaglomerular apparatus,autosomal recessive. Presenting as an
    antenatal form with hydramnios prematurity and dehydration at birth and a classic form with failure to thrive

    Genetic Association Database (GAD): KCNJ1
    Human Genome Epidemiology (HuGE) Navigator: KCNJ1 (7 documents)

    Export disorders for KCNJ1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KCNJ1 gene, integrated from 9 sources (see all 157):
    (articles sorted by number of sources associating them with KCNJ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA. (PubMed id 8190102)1, 2, 3, 9 Yano H.... Takeda J. (1994)
    2. Cell surface expression of the ROMK (Kir 1.1) channel is regulated by the aldosterone-induced kinase, SGK-1, and protein kinase A. (PubMed id 12684516)1, 2, 9 Yoo D....Welling P.A. (2003)
    3. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. (PubMed id 8841184)1, 2, 9 Simon D.B.... Lifton R.P. (1996)
    4. Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. (PubMed id 18443236)1, 4, 9 Tobin M.D....Samani N.J. (2008)
    5. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. (PubMed id 9002665)1, 2, 9 Karolyi L....Hebert S.C. (1997)
    6. A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. (PubMed id 9727001)1, 2, 9 Derst C.... Karschin A. (1998)
    7. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. (PubMed id 18391953)1, 4 Ji W....Lifton R.P. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3758 HGNC: 6255 AceView: KCNJ1 Ensembl:ENSG00000151704 euGenes: HUgn3758
    ECgene: KCNJ1 Kegg: 3758 H-InvDB: KCNJ1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNJ1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNJ1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNJ1 gene:
    Search GeneIP for patents involving KCNJ1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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