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P48048

- KCNJ1_HUMAN

UniProt

P48048 - KCNJ1_HUMAN

Protein

ATP-sensitive inward rectifier potassium channel 1

Gene

KCNJ1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 1 (01 Feb 1996)
      Previous versions | rss
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    Functioni

    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 regulationi

    Inhibited by WNK3.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei171 – 1711Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi223 – 2308ATPSequence Analysis

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. inward rectifier potassium channel activity Source: ProtInc
    3. phosphatidylinositol-4,5-bisphosphate binding Source: BHF-UCL

    GO - Biological processi

    1. cardiovascular system development Source: Ensembl
    2. excretion Source: ProtInc
    3. kidney development Source: Ensembl
    4. post-embryonic development Source: Ensembl
    5. potassium ion transmembrane transport Source: GOC
    6. potassium ion transport Source: ProtInc
    7. regulation of G-protein activated inward rectifier potassium channel activity Source: Ensembl
    8. renal sodium ion absorption Source: Ensembl
    9. synaptic transmission Source: Reactome
    10. tissue homeostasis Source: Ensembl

    Keywords - Molecular functioni

    Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding, Potassium

    Enzyme and pathway databases

    ReactomeiREACT_75815. Potassium transport channels.

    Protein family/group databases

    TCDBi1.A.2.1.1. inward rectifier k(+) channel (irk-c) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 1
    Alternative name(s):
    ATP-regulated potassium channel ROM-K
    Inward rectifier K(+) channel Kir1.1
    Potassium channel, inwardly rectifying subfamily J member 1
    Gene namesi
    Name:KCNJ1
    Synonyms:ROMK1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:6255. KCNJ1.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Note: Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.

    GO - Cellular componenti

    1. plasma membrane Source: Reactome
    2. voltage-gated potassium channel complex Source: ProtInc

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721V → E in BS2. 1 Publication
    VAR_001548
    Natural varianti74 – 741D → Y in BS2. 1 Publication
    VAR_001549
    Natural varianti99 – 991W → C in BS2. 1 Publication
    VAR_001550
    Natural varianti108 – 1081D → H in BS2. 1 Publication
    VAR_001551
    Natural varianti110 – 1101P → L in BS2. 1 Publication
    VAR_001552
    Natural varianti122 – 1221V → E in BS2. 1 Publication
    VAR_001553
    Natural varianti124 – 1241N → K in BS2. 1 Publication
    VAR_019724
    Natural varianti167 – 1671G → E in BS2. 1 Publication
    VAR_001554
    Natural varianti198 – 1981A → T in BS2. 1 Publication
    VAR_001555
    Natural varianti214 – 2141A → V in BS2. 1 Publication
    VAR_019725
    Natural varianti219 – 2191S → R in BS2. 1 Publication
    VAR_019726
    Natural varianti315 – 3151V → G in BS2. 1 Publication
    VAR_001556
    Natural varianti357 – 3571M → T in BS2. 1 Publication
    Corresponds to variant rs59172778 [ dbSNP | Ensembl ].
    VAR_019727

    Keywords - Diseasei

    Bartter syndrome, Disease mutation

    Organism-specific databases

    MIMi241200. phenotype.
    Orphaneti93604. Antenatal Bartter syndrome.
    PharmGKBiPA213.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 391391ATP-sensitive inward rectifier potassium channel 1PRO_0000154917Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei44 – 441Phosphoserine; by SGK11 Publication
    Glycosylationi117 – 1171N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.1 Publication

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiP48048.
    PRIDEiP48048.

    PTM databases

    PhosphoSiteiP48048.

    Expressioni

    Tissue specificityi

    In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver.1 Publication

    Gene expression databases

    BgeeiP48048.
    CleanExiHS_KCNJ1.
    GenevestigatoriP48048.

    Organism-specific databases

    HPAiHPA026962.

    Interactioni

    Subunit structurei

    Interacts with SGK1 and SLC9A3R2/NHERF2.1 Publication

    Protein-protein interaction databases

    BioGridi109960. 6 interactions.
    MINTiMINT-90062.
    STRINGi9606.ENSP00000316136.

    Structurei

    3D structure databases

    ProteinModelPortaliP48048.
    SMRiP48048. Positions 39-356.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 7777CytoplasmicBy similarityAdd
    BLAST
    Topological domaini103 – 12725ExtracellularBy similarityAdd
    BLAST
    Topological domaini147 – 1559ExtracellularBy similarity
    Topological domaini178 – 391214CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei128 – 13912Helical; Pore-forming; Name=H5By similarityAdd
    BLAST
    Intramembranei140 – 1467Pore-formingBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei78 – 10225Helical; Name=M1By similarityAdd
    BLAST
    Transmembranei156 – 17722Helical; Name=M2By similarityAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi141 – 1466Selectivity filterBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG247934.
    HOGENOMiHOG000237326.
    HOVERGENiHBG006178.
    InParanoidiP48048.
    KOiK04995.
    OMAiRYKMTIF.
    OrthoDBiEOG7XPZ5K.
    PhylomeDBiP48048.
    TreeFamiTF313676.

    Family and domain databases

    Gene3Di2.60.40.1400. 1 hit.
    InterProiIPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003268. K_chnl_inward-rec_Kir1.1.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    [Graphical view]
    PANTHERiPTHR11767. PTHR11767. 1 hit.
    PTHR11767:SF6. PTHR11767:SF6. 1 hit.
    PfamiPF01007. IRK. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005465. GIRK_kir. 1 hit.
    PRINTSiPR01321. KIR11CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMiSSF81296. SSF81296. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P48048-1) [UniParc]FASTAAdd to Basket

    Also known as: ROM-K1

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MNASSRNVFD TLIRVLTESM FKHLRKWVVT RFFGHSRQRA RLVSKDGRCN    50
    IEFGNVEAQS RFIFFVDIWT TVLDLKWRYK MTIFITAFLG SWFFFGLLWY 100
    AVAYIHKDLP EFHPSANHTP CVENINGLTS AFLFSLETQV TIGYGFRCVT 150
    EQCATAIFLL IFQSILGVII NSFMCGAILA KISRPKKRAK TITFSKNAVI 200
    SKRGGKLCLL IRVANLRKSL LIGSHIYGKL LKTTVTPEGE TIILDQININ 250
    FVVDAGNENL FFISPLTIYH VIDHNSPFFH MAAETLLQQD FELVVFLDGT 300
    VESTSATCQV RTSYVPEEVL WGYRFAPIVS KTKEGKYRVD FHNFSKTVEV 350
    ETPHCAMCLY NEKDVRARMK RGYDNPNFIL SEVNETDDTK M 391
    Length:391
    Mass (Da):44,795
    Last modified:February 1, 1996 - v1
    Checksum:iDF01C89B16BE6205
    GO
    Isoform 2 (identifier: P48048-2) [UniParc]FASTAAdd to Basket

    Also known as: 2-4-5, ROM-K2, ROM-K4, ROM-K5, ROM-K6

    The sequence of this isoform differs from the canonical sequence as follows:
         1-19: Missing.

    Show »
    Length:372
    Mass (Da):42,660
    Checksum:i31C776DE544EBC79
    GO
    Isoform 3 (identifier: P48048-3) [UniParc]FASTAAdd to Basket

    Also known as: ROM-K3

    The sequence of this isoform differs from the canonical sequence as follows:
         1-12: MNASSRNVFDTL → MPTVYLCSEQ

    Show »
    Length:389
    Mass (Da):44,611
    Checksum:i68BEB24F78327116
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61R → W.
    Corresponds to variant rs34191956 [ dbSNP | Ensembl ].
    VAR_049668
    Natural varianti72 – 721V → E in BS2. 1 Publication
    VAR_001548
    Natural varianti74 – 741D → Y in BS2. 1 Publication
    VAR_001549
    Natural varianti99 – 991W → C in BS2. 1 Publication
    VAR_001550
    Natural varianti108 – 1081D → H in BS2. 1 Publication
    VAR_001551
    Natural varianti110 – 1101P → L in BS2. 1 Publication
    VAR_001552
    Natural varianti115 – 1151S → F in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036426
    Natural varianti122 – 1221V → E in BS2. 1 Publication
    VAR_001553
    Natural varianti124 – 1241N → K in BS2. 1 Publication
    VAR_019724
    Natural varianti167 – 1671G → E in BS2. 1 Publication
    VAR_001554
    Natural varianti198 – 1981A → T in BS2. 1 Publication
    VAR_001555
    Natural varianti214 – 2141A → V in BS2. 1 Publication
    VAR_019725
    Natural varianti219 – 2191S → R in BS2. 1 Publication
    VAR_019726
    Natural varianti315 – 3151V → G in BS2. 1 Publication
    VAR_001556
    Natural varianti357 – 3571M → T in BS2. 1 Publication
    Corresponds to variant rs59172778 [ dbSNP | Ensembl ].
    VAR_019727

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1919Missing in isoform 2. CuratedVSP_002797Add
    BLAST
    Alternative sequencei1 – 1212MNASS…VFDTL → MPTVYLCSEQ in isoform 3. CuratedVSP_002798Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U12541 mRNA. Translation: AAA61712.1.
    U12542 mRNA. Translation: AAA61713.1.
    U12543 mRNA. Translation: AAA61714.1.
    U12544 mRNA. Translation: AAA61715.1.
    U12545 mRNA. Translation: AAA61716.1.
    U03884 mRNA. Translation: AAA20594.1.
    U65406 Genomic DNA. Translation: AAC51220.1.
    U65406 Genomic DNA. Translation: AAC51221.1.
    U65406 Genomic DNA. Translation: AAC51222.1.
    CH471065 Genomic DNA. Translation: EAW67724.1.
    BC074752 mRNA. Translation: AAH74752.1.
    BC136360 mRNA. Translation: AAI36361.1.
    BC136361 mRNA. Translation: AAI36362.1.
    S78737 mRNA. Translation: AAB35012.1.
    CCDSiCCDS8476.1. [P48048-1]
    CCDS8477.1. [P48048-2]
    PIRiA55119.
    RefSeqiNP_000211.1. NM_000220.4. [P48048-1]
    NP_722448.1. NM_153764.2. [P48048-2]
    NP_722449.3. NM_153765.2. [P48048-3]
    NP_722450.1. NM_153766.2. [P48048-2]
    NP_722451.1. NM_153767.3. [P48048-2]
    UniGeneiHs.527830.

    Genome annotation databases

    EnsembliENST00000324003; ENSP00000316136; ENSG00000151704.
    ENST00000324036; ENSP00000316233; ENSG00000151704. [P48048-2]
    ENST00000392664; ENSP00000376432; ENSG00000151704. [P48048-1]
    ENST00000392665; ENSP00000376433; ENSG00000151704. [P48048-2]
    ENST00000392666; ENSP00000376434; ENSG00000151704. [P48048-2]
    ENST00000440599; ENSP00000406320; ENSG00000151704. [P48048-2]
    GeneIDi3758.
    KEGGihsa:3758.
    UCSCiuc001qeo.2. human. [P48048-1]
    uc001qeq.2. human. [P48048-3]

    Polymorphism databases

    DMDMi1352479.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U12541 mRNA. Translation: AAA61712.1 .
    U12542 mRNA. Translation: AAA61713.1 .
    U12543 mRNA. Translation: AAA61714.1 .
    U12544 mRNA. Translation: AAA61715.1 .
    U12545 mRNA. Translation: AAA61716.1 .
    U03884 mRNA. Translation: AAA20594.1 .
    U65406 Genomic DNA. Translation: AAC51220.1 .
    U65406 Genomic DNA. Translation: AAC51221.1 .
    U65406 Genomic DNA. Translation: AAC51222.1 .
    CH471065 Genomic DNA. Translation: EAW67724.1 .
    BC074752 mRNA. Translation: AAH74752.1 .
    BC136360 mRNA. Translation: AAI36361.1 .
    BC136361 mRNA. Translation: AAI36362.1 .
    S78737 mRNA. Translation: AAB35012.1 .
    CCDSi CCDS8476.1. [P48048-1 ]
    CCDS8477.1. [P48048-2 ]
    PIRi A55119.
    RefSeqi NP_000211.1. NM_000220.4. [P48048-1 ]
    NP_722448.1. NM_153764.2. [P48048-2 ]
    NP_722449.3. NM_153765.2. [P48048-3 ]
    NP_722450.1. NM_153766.2. [P48048-2 ]
    NP_722451.1. NM_153767.3. [P48048-2 ]
    UniGenei Hs.527830.

    3D structure databases

    ProteinModelPortali P48048.
    SMRi P48048. Positions 39-356.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109960. 6 interactions.
    MINTi MINT-90062.
    STRINGi 9606.ENSP00000316136.

    Chemistry

    BindingDBi P48048.
    ChEMBLi CHEMBL1293292.
    DrugBanki DB00414. Acetohexamide.
    DB00672. Chlorpropamide.
    DB01016. Glibenclamide.
    DB01120. Gliclazide.
    DB00222. Glimepiride.
    DB01067. Glipizide.
    DB01382. Glycodiazine.
    DB00350. Minoxidil.
    DB00731. Nateglinide.
    DB00912. Repaglinide.
    DB00839. Tolazamide.
    DB01124. Tolbutamide.
    GuidetoPHARMACOLOGYi 429.

    Protein family/group databases

    TCDBi 1.A.2.1.1. inward rectifier k(+) channel (irk-c) family.

    PTM databases

    PhosphoSitei P48048.

    Polymorphism databases

    DMDMi 1352479.

    Proteomic databases

    PaxDbi P48048.
    PRIDEi P48048.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000324003 ; ENSP00000316136 ; ENSG00000151704 .
    ENST00000324036 ; ENSP00000316233 ; ENSG00000151704 . [P48048-2 ]
    ENST00000392664 ; ENSP00000376432 ; ENSG00000151704 . [P48048-1 ]
    ENST00000392665 ; ENSP00000376433 ; ENSG00000151704 . [P48048-2 ]
    ENST00000392666 ; ENSP00000376434 ; ENSG00000151704 . [P48048-2 ]
    ENST00000440599 ; ENSP00000406320 ; ENSG00000151704 . [P48048-2 ]
    GeneIDi 3758.
    KEGGi hsa:3758.
    UCSCi uc001qeo.2. human. [P48048-1 ]
    uc001qeq.2. human. [P48048-3 ]

    Organism-specific databases

    CTDi 3758.
    GeneCardsi GC11M128706.
    HGNCi HGNC:6255. KCNJ1.
    HPAi HPA026962.
    MIMi 241200. phenotype.
    600359. gene.
    neXtProti NX_P48048.
    Orphaneti 93604. Antenatal Bartter syndrome.
    PharmGKBi PA213.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG247934.
    HOGENOMi HOG000237326.
    HOVERGENi HBG006178.
    InParanoidi P48048.
    KOi K04995.
    OMAi RYKMTIF.
    OrthoDBi EOG7XPZ5K.
    PhylomeDBi P48048.
    TreeFami TF313676.

    Enzyme and pathway databases

    Reactomei REACT_75815. Potassium transport channels.

    Miscellaneous databases

    GeneWikii ROMK.
    GenomeRNAii 3758.
    NextBioi 14725.
    PROi P48048.
    SOURCEi Search...

    Gene expression databases

    Bgeei P48048.
    CleanExi HS_KCNJ1.
    Genevestigatori P48048.

    Family and domain databases

    Gene3Di 2.60.40.1400. 1 hit.
    InterProi IPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003268. K_chnl_inward-rec_Kir1.1.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    [Graphical view ]
    PANTHERi PTHR11767. PTHR11767. 1 hit.
    PTHR11767:SF6. PTHR11767:SF6. 1 hit.
    Pfami PF01007. IRK. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005465. GIRK_kir. 1 hit.
    PRINTSi PR01321. KIR11CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMi SSF81296. SSF81296. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel."
      Shuck M.E., Bock J.H., Benjamin C.W., Tsai T.-D., Lee K.S., Slightom J.L., Bienkowski M.J.
      J. Biol. Chem. 269:24261-24270(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
      Tissue: Kidney.
    2. "Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA."
      Yano H., Philipson L.H., Kugler J.L., Tokuyama Y., Davis E.M., le Beau M.M., Nelson D.J., Bell G.I., Takeda J.
      Mol. Pharmacol. 45:854-860(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
      Tissue: Kidney.
    3. "Nucleotide sequence analysis of the human KCNJ1 potassium channel locus."
      Bock J.H., Shuck M.E., Benjamin C.W., Chee M., Bienkowski M.J., Slightom J.L.
      Gene 188:9-16(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    6. "Isolation and chromosomal localization of a human ATP-regulated potassium channel."
      Krishnan S.N., Desai T., Ward D.C., Haddad G.G.
      Hum. Genet. 96:155-160(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 76-177, TISSUE SPECIFICITY.
      Tissue: Brain cortex.
    7. "Glycosylation of GIRK1 at Asn119 and ROMK1 at Asn117 has different consequences in potassium channel function."
      Pabon A., Chan K.W., Sui J.L., Wu X., Logothetis D.E., Thornhill W.B.
      J. Biol. Chem. 275:30677-30682(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT ASN-117.
    8. "Molecular requirements for the regulation of the renal outer medullary K(+) channel ROMK1 by the serum- and glucocorticoid-inducible kinase SGK1."
      Palmada M., Embark H.M., Yun C., Bohmer C., Lang F.
      Biochem. Biophys. Res. Commun. 311:629-634(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SGK1 AND SLC9A3R2/NHERF2.
    9. "Cell surface expression of the ROMK (Kir 1.1) channel is regulated by the aldosterone-induced kinase, SGK-1, and protein kinase A."
      Yoo D., Kim B.Y., Campo C., Nance L., King A., Maouyo D., Welling P.A.
      J. Biol. Chem. 278:23066-23075(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-44 BY SGK1, SUBCELLULAR LOCATION.
    10. "WNK3, a kinase related to genes mutated in hereditary hypertension with hyperkalaemia, regulates the K+ channel ROMK1 (Kir1.1)."
      Leng Q., Kahle K.T., Rinehart J., MacGregor G.G., Wilson F.H., Canessa C.M., Lifton R.P., Hebert S.C.
      J. Physiol. (Lond.) 571:275-286(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: ENZYME REGULATION.
    11. "Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK."
      Simon D.B., Karet F.E., Rodriguez-Soriano J., Hamdan J.H., DiPietro A., Trachtman H., Sanjad S.A., Lifton R.P.
      Nat. Genet. 14:152-156(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BS2 VAL-214; ARG-219 AND THR-357.
    12. Cited for: VARIANTS BS2 GLU-72; TYR-74; CYS-99; HIS-108; LEU-110; GLU-122; GLU-167; THR-198 AND GLY-315.
    13. "A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels."
      Derst C., Wischmeyer E., Preisig-Mueller R., Spauschus A., Konrad M., Hensen P., Jeck N., Seyberth H.W., Daut J., Karschin A.
      J. Biol. Chem. 273:23884-23891(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BS2 LYS-124.
    14. Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-115.

    Entry informationi

    Entry nameiKCNJ1_HUMAN
    AccessioniPrimary (citable) accession number: P48048
    Secondary accession number(s): B2RMR4, Q6LD67
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: February 1, 1996
    Last modified: October 1, 2014
    This is version 148 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3