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P48544

- KCNJ5_HUMAN

UniProt

P48544 - KCNJ5_HUMAN

Protein

G protein-activated inward rectifier potassium channel 4

Gene

KCNJ5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    This potassium channel is controlled by G proteins. 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. Can be blocked by external barium.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei179 – 1791Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity

    GO - Molecular functioni

    1. G-protein activated inward rectifier potassium channel activity Source: UniProtKB
    2. protein binding Source: BHF-UCL

    GO - Biological processi

    1. potassium ion transmembrane transport Source: GOC
    2. potassium ion transport Source: ProtInc
    3. synaptic transmission Source: Reactome

    Keywords - Molecular functioni

    Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    Potassium

    Enzyme and pathway databases

    ReactomeiREACT_25004. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits.
    REACT_75831. Activation of G protein gated Potassium channels.

    Protein family/group databases

    TCDBi1.A.2.1.3. inward rectifier k(+) channel (irk-c) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    G protein-activated inward rectifier potassium channel 4
    Short name:
    GIRK-4
    Alternative name(s):
    Cardiac inward rectifier
    Short name:
    CIR
    Heart KATP channel
    Inward rectifier K(+) channel Kir3.4
    Short name:
    IRK-4
    KATP-1
    Potassium channel, inwardly rectifying subfamily J member 5
    Gene namesi
    Name:KCNJ5
    Synonyms:GIRK4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:6266. KCNJ5.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Long QT syndrome 13 (LQT13) [MIM:613485]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti387 – 3871G → R in LQT13. 1 Publication
    Corresponds to variant rs199830292 [ dbSNP | Ensembl ].
    VAR_063766
    Familial hyperaldosteronism 3 (FH3) [MIM:613677]: A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with familial hyperaldosteronism type 1 (glucocorticoid-remediable aldosteronism), patients with FH3 present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti151 – 1511G → E in FH3; results in a profound alteration of channel function with loss of channel selectivity and membrane depolarization. 2 Publications
    VAR_067090
    Natural varianti151 – 1511G → R in FH3 and APA; detected as germline mutation in a kindred with severe primary aldosteronism and adrenocortical hyperplasia; recurrent mutation in APA; somatic mutation; results in loss of channel selectivity and membrane depolarization. 5 Publications
    VAR_065930
    Natural varianti158 – 1581T → A in FH3; also found in aldosterone-producing adrenal adenoma. 2 Publications
    VAR_065931
    Somatic mutations in KCNJ5 have been found in aldosterone-producing adrenal adenomas (APA) and can be responsible for aldosteronism associated with cell autonomous proliferation. APAs are typically solitary, well circumscribed tumors diagnosed between ages 30 and 70. They come to medical attention due to new or worsening hypertension, often with hypokalemia. The precise role of KCNJ5 mutations in APA is under debate. They produce increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation. However, they may not be causative of APA development but may be a consequence of tumorigenesis, playing only a contributory role toward aldosterone overproduction and tumor growth (PubMed:22275527). Somatic mutations in KCNJ5 have not been found in non-aldosterone secreting adrenal adenomas suggesting that they are specifically associated with APA (PubMed:22275527 and PubMed:22848660).1 Publication

    Keywords - Diseasei

    Disease mutation, Long QT syndrome

    Organism-specific databases

    MIMi613485. phenotype.
    613677. phenotype.
    Orphaneti85142. Aldosterone-producing adenoma.
    251274. Familial hyperaldosteronism type 3.
    101016. Romano-Ward syndrome.
    PharmGKBiPA216.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 419419G protein-activated inward rectifier potassium channel 4PRO_0000154934Add
    BLAST

    Proteomic databases

    PaxDbiP48544.
    PRIDEiP48544.

    PTM databases

    PhosphoSiteiP48544.

    Expressioni

    Tissue specificityi

    Islets, exocrine pancreas and heart. Expressed in the adrenal cortex, particularly the zona glomerulosa.1 Publication

    Gene expression databases

    ArrayExpressiP48544.
    BgeeiP48544.
    CleanExiHS_KCNJ5.
    GenevestigatoriP48544.

    Organism-specific databases

    HPAiCAB022569.
    HPA014722.
    HPA017353.

    Interactioni

    Subunit structurei

    May associate with GIRK1 and GIRK2 to form a G-protein-activated heteromultimer pore-forming unit. The resulting inward current is much larger By similarity.By similarity

    Protein-protein interaction databases

    BioGridi109964. 4 interactions.
    MINTiMINT-90031.
    STRINGi9606.ENSP00000339960.

    Structurei

    3D structure databases

    ProteinModelPortaliP48544.
    SMRiP48544. Positions 51-370.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8686CytoplasmicBy similarityAdd
    BLAST
    Topological domaini112 – 13524ExtracellularBy similarityAdd
    BLAST
    Topological domaini155 – 1639ExtracellularBy similarity
    Topological domaini186 – 419234CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei136 – 14712Helical; Pore-forming; Name=H5By similarityAdd
    BLAST
    Intramembranei148 – 1547Pore-formingBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei87 – 11125Helical; Name=M1By similarityAdd
    BLAST
    Transmembranei164 – 18522Helical; Name=M2By similarityAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi149 – 1546Selectivity filterBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG72812.
    HOGENOMiHOG000237325.
    HOVERGENiHBG006178.
    InParanoidiP48544.
    KOiK04999.
    OMAiQARSSYM.
    OrthoDBiEOG7XPZ5K.
    PhylomeDBiP48544.
    TreeFamiTF313676.

    Family and domain databases

    Gene3Di2.60.40.1400. 1 hit.
    InterProiIPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003277. K_chnl_inward-rec_Kir3.4.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    [Graphical view]
    PANTHERiPTHR11767. PTHR11767. 1 hit.
    PfamiPF01007. IRK. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005465. GIRK_kir. 1 hit.
    PRINTSiPR01330. KIR34CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMiSSF81296. SSF81296. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    P48544-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAGDSRNAMN QDMEIGVTPW DPKKIPKQAR DYVPIATDRT RLLAEGKKPR    50
    QRYMEKSGKC NVHHGNVQET YRYLSDLFTT LVDLKWRFNL LVFTMVYTVT 100
    WLFFGFIWWL IAYIRGDLDH VGDQEWIPCV ENLSGFVSAF LFSIETETTI 150
    GYGFRVITEK CPEGIILLLV QAILGSIVNA FMVGCMFVKI SQPKKRAETL 200
    MFSNNAVISM RDEKLCLMFR VGDLRNSHIV EASIRAKLIK SRQTKEGEFI 250
    PLNQTDINVG FDTGDDRLFL VSPLIISHEI NQKSPFWEMS QAQLHQEEFE 300
    VVVILEGMVE ATGMTCQARS SYMDTEVLWG HRFTPVLTLE KGFYEVDYNT 350
    FHDTYETNTP SCCAKELAEM KREGRLLQYL PSPPLLGGCA EAGLDAEAEQ 400
    NEEDEPKGLG GSREARGSV 419
    Length:419
    Mass (Da):47,668
    Last modified:May 18, 2010 - v2
    Checksum:i7C14A6B0B7EA0FD4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti35 – 351I → T in AAB07045. (PubMed:10659995)Curated
    Sequence conflicti388 – 3881G → R in CAA58565. (PubMed:8047164)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391R → H.1 Publication
    VAR_065929
    Natural varianti145 – 1451E → Q Found in aldosterone-producing adrenal adenoma samples; somatic mutation. 1 Publication
    VAR_069182
    Natural varianti151 – 1511G → E in FH3; results in a profound alteration of channel function with loss of channel selectivity and membrane depolarization. 2 Publications
    VAR_067090
    Natural varianti151 – 1511G → R in FH3 and APA; detected as germline mutation in a kindred with severe primary aldosteronism and adrenocortical hyperplasia; recurrent mutation in APA; somatic mutation; results in loss of channel selectivity and membrane depolarization. 5 Publications
    VAR_065930
    Natural varianti158 – 1581T → A in FH3; also found in aldosterone-producing adrenal adenoma. 2 Publications
    VAR_065931
    Natural varianti168 – 1681L → R in APA; somatic mutation; recurrent mutation; results in loss of channel selectivity and membrane depolarization. 4 Publications
    VAR_065932
    Natural varianti210 – 2101M → I.1 Publication
    Corresponds to variant rs138295501 [ dbSNP | Ensembl ].
    VAR_065933
    Natural varianti282 – 2821Q → E.6 Publications
    Corresponds to variant rs7102584 [ dbSNP | Ensembl ].
    VAR_063107
    Natural varianti387 – 3871G → R in LQT13. 1 Publication
    Corresponds to variant rs199830292 [ dbSNP | Ensembl ].
    VAR_063766

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U39195 mRNA. Translation: AAB53093.1.
    X83582 mRNA. Translation: CAA58565.1.
    L47208 mRNA. Translation: AAB07269.1.
    U52154 mRNA. Translation: AAB07045.1.
    D50134 mRNA. Translation: BAA08814.1.
    AP000920 Genomic DNA. No translation available.
    AK312837 mRNA. Translation: BAG35691.1.
    BC069571 mRNA. Translation: AAH69571.1.
    BC074838 mRNA. Translation: AAH74838.2.
    BC069386 mRNA. Translation: AAH69386.1.
    BC069482 mRNA. Translation: AAH69482.1.
    BC069499 mRNA. Translation: AAH69499.1.
    BC074839 mRNA. Translation: AAH74839.2.
    CCDSiCCDS8479.1.
    PIRiG02232.
    RefSeqiNP_000881.3. NM_000890.3.
    XP_005271600.1. XM_005271543.1.
    UniGeneiHs.444595.
    Hs.632109.

    Genome annotation databases

    EnsembliENST00000338350; ENSP00000339960; ENSG00000120457.
    ENST00000529694; ENSP00000433295; ENSG00000120457.
    ENST00000533599; ENSP00000434266; ENSG00000120457.
    GeneIDi3762.
    KEGGihsa:3762.
    UCSCiuc001qet.3. human.

    Polymorphism databases

    DMDMi296434543.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U39195 mRNA. Translation: AAB53093.1 .
    X83582 mRNA. Translation: CAA58565.1 .
    L47208 mRNA. Translation: AAB07269.1 .
    U52154 mRNA. Translation: AAB07045.1 .
    D50134 mRNA. Translation: BAA08814.1 .
    AP000920 Genomic DNA. No translation available.
    AK312837 mRNA. Translation: BAG35691.1 .
    BC069571 mRNA. Translation: AAH69571.1 .
    BC074838 mRNA. Translation: AAH74838.2 .
    BC069386 mRNA. Translation: AAH69386.1 .
    BC069482 mRNA. Translation: AAH69482.1 .
    BC069499 mRNA. Translation: AAH69499.1 .
    BC074839 mRNA. Translation: AAH74839.2 .
    CCDSi CCDS8479.1.
    PIRi G02232.
    RefSeqi NP_000881.3. NM_000890.3.
    XP_005271600.1. XM_005271543.1.
    UniGenei Hs.444595.
    Hs.632109.

    3D structure databases

    ProteinModelPortali P48544.
    SMRi P48544. Positions 51-370.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109964. 4 interactions.
    MINTi MINT-90031.
    STRINGi 9606.ENSP00000339960.

    Chemistry

    ChEMBLi CHEMBL3038488.
    DrugBanki DB01016. Glibenclamide.
    GuidetoPHARMACOLOGYi 437.

    Protein family/group databases

    TCDBi 1.A.2.1.3. inward rectifier k(+) channel (irk-c) family.

    PTM databases

    PhosphoSitei P48544.

    Polymorphism databases

    DMDMi 296434543.

    Proteomic databases

    PaxDbi P48544.
    PRIDEi P48544.

    Protocols and materials databases

    DNASUi 3762.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000338350 ; ENSP00000339960 ; ENSG00000120457 .
    ENST00000529694 ; ENSP00000433295 ; ENSG00000120457 .
    ENST00000533599 ; ENSP00000434266 ; ENSG00000120457 .
    GeneIDi 3762.
    KEGGi hsa:3762.
    UCSCi uc001qet.3. human.

    Organism-specific databases

    CTDi 3762.
    GeneCardsi GC11P128760.
    GeneReviewsi KCNJ5.
    HGNCi HGNC:6266. KCNJ5.
    HPAi CAB022569.
    HPA014722.
    HPA017353.
    MIMi 600734. gene.
    613485. phenotype.
    613677. phenotype.
    neXtProti NX_P48544.
    Orphaneti 85142. Aldosterone-producing adenoma.
    251274. Familial hyperaldosteronism type 3.
    101016. Romano-Ward syndrome.
    PharmGKBi PA216.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG72812.
    HOGENOMi HOG000237325.
    HOVERGENi HBG006178.
    InParanoidi P48544.
    KOi K04999.
    OMAi QARSSYM.
    OrthoDBi EOG7XPZ5K.
    PhylomeDBi P48544.
    TreeFami TF313676.

    Enzyme and pathway databases

    Reactomei REACT_25004. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits.
    REACT_75831. Activation of G protein gated Potassium channels.

    Miscellaneous databases

    GeneWikii KCNJ5.
    GenomeRNAii 3762.
    NextBioi 14751.
    PROi P48544.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P48544.
    Bgeei P48544.
    CleanExi HS_KCNJ5.
    Genevestigatori P48544.

    Family and domain databases

    Gene3Di 2.60.40.1400. 1 hit.
    InterProi IPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003277. K_chnl_inward-rec_Kir3.4.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    [Graphical view ]
    PANTHERi PTHR11767. PTHR11767. 1 hit.
    Pfami PF01007. IRK. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005465. GIRK_kir. 1 hit.
    PRINTSi PR01330. KIR34CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMi SSF81296. SSF81296. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Chan K.W., Langan M.N., Sui J., Kozak A., Pabon A., Ladias J.A.A., Logothetis D.E.
      Submitted (OCT-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLU-282.
      Tissue: Pancreas.
    2. "Cloning and functional expression of a rat heart KATP channel."
      Ashford M.L.J., Bond C.T., Blair T.A., Adelman J.P.
      Nature 370:456-459(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLU-282.
    3. Cited for: RETRACTION.
    4. "A G-protein-activated inwardly rectifying K+ channel (GIRK4) from human hippocampus associates with other GIRK channels."
      Spauschus A., Lentes K.U., Wischmeyer E., Dissmann E., Karschin C., Karschin A.
      J. Neurosci. 16:930-938(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLU-282.
    5. "Co-expression of human Kir3 subunits can yield channels with different functional properties."
      Schoots O., Wilson J.M., Ethier N., Bigras E., Hebert T.E., Van Tol H.H.M.
      Cell. Signal. 11:871-883(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLU-282.
      Tissue: Pituitary.
    6. "Functional characterization and localization of a cardiac-type inwardly rectifying K+ channel."
      Iizuka M., Kubo Y., Tsunenari I., Pan C.X., Akiba I., Kono T.
      Recept. Channels 3:299-315(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLU-282.
      Tissue: Heart.
    7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Thymus.
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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], VARIANT GLU-282.
      Tissue: Lung.
    10. Cited for: TISSUE SPECIFICITY, VARIANT FH3 ALA-158, VARIANTS APA ARG-151 AND ARG-168, CHARACTERIZATION OF VARIANTS APA ARG-151 AND ARG-168, VARIANTS HIS-39 AND ILE-210.
    11. Cited for: VARIANT LQT13 ARG-387.
    12. Cited for: VARIANTS APA ARG-151 AND ARG-168, VARIANTS FH3 GLU-151 AND ALA-158, CHARACTERIZATION OF VARIANT FH3 GLU-151.
    13. Cited for: VARIANTS APA ARG-151 AND ARG-168.
    14. Cited for: VARIANTS APA ARG-151 AND ARG-168, VARIANT GLN-145.
    15. "Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5."
      Scholl U.I., Nelson-Williams C., Yue P., Grekin R., Wyatt R.J., Dillon M.J., Couch R., Hammer L.K., Harley F.L., Farhi A., Wang W.H., Lifton R.P.
      Proc. Natl. Acad. Sci. U.S.A. 109:2533-2538(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FH3 ARG-151 AND GLU-151.

    Entry informationi

    Entry nameiKCNJ5_HUMAN
    AccessioniPrimary (citable) accession number: P48544
    Secondary accession number(s): B2R744
    , Q6DK13, Q6DK14, Q92807
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 147 of the entry and version 2 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