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P48549

- KCNJ3_HUMAN

UniProt

P48549 - KCNJ3_HUMAN

Protein

G protein-activated inward rectifier potassium channel 1

Gene

KCNJ3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 1 (01 Feb 1996)
      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. This receptor plays a crucial role in regulating the heartbeat.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei173 – 1731Role 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: ProtInc
    2. protein binding Source: BHF-UCL

    GO - Biological processi

    1. potassium ion transmembrane transport Source: GOC
    2. potassium ion transport Source: ProtInc
    3. response to electrical stimulus Source: Ensembl
    4. 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.2.1.12. inward rectifier k(+) channel (irk-c) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    G protein-activated inward rectifier potassium channel 1
    Short name:
    GIRK-1
    Alternative name(s):
    Inward rectifier K(+) channel Kir3.1
    Potassium channel, inwardly rectifying subfamily J member 3
    Gene namesi
    Name:KCNJ3
    Synonyms:GIRK1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:6264. KCNJ3.

    Subcellular locationi

    GO - Cellular componenti

    1. external side of plasma membrane Source: Ensembl
    2. plasma membrane Source: Reactome
    3. T-tubule Source: Ensembl
    4. voltage-gated potassium channel complex Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA215.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 501501G protein-activated inward rectifier potassium channel 1PRO_0000154938Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi119 – 1191N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP48549.
    PRIDEiP48549.

    PTM databases

    PhosphoSiteiP48549.

    Expressioni

    Gene expression databases

    ArrayExpressiP48549.
    BgeeiP48549.
    CleanExiHS_KCNJ3.
    GenevestigatoriP48549.

    Organism-specific databases

    HPAiHPA024231.

    Interactioni

    Subunit structurei

    Associates with GIRK2, GIRK3 or GIRK4 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

    BioGridi109962. 8 interactions.
    STRINGi9606.ENSP00000295101.

    Structurei

    3D structure databases

    ProteinModelPortaliP48549.
    SMRiP48549. Positions 41-370.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8080CytoplasmicBy similarityAdd
    BLAST
    Topological domaini106 – 12924ExtracellularBy similarityAdd
    BLAST
    Topological domaini149 – 1579ExtracellularBy similarity
    Topological domaini180 – 501322CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei130 – 14112Helical; Pore-forming; Name=H5By similarityAdd
    BLAST
    Intramembranei142 – 1487Pore-formingBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei81 – 10525Helical; Name=M1By similarityAdd
    BLAST
    Transmembranei158 – 17922Helical; Name=M2By similarityAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi143 – 1486Selectivity filterBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG280776.
    HOGENOMiHOG000237325.
    HOVERGENiHBG006178.
    InParanoidiP48549.
    KOiK04997.
    OMAiSMQSEQF.
    OrthoDBiEOG7XPZ5K.
    PhylomeDBiP48549.
    TreeFamiTF313676.

    Family and domain databases

    Gene3Di2.60.40.1400. 1 hit.
    InterProiIPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003274. K_chnl_inward-rec_Kir3.1.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    [Graphical view]
    PANTHERiPTHR11767. PTHR11767. 1 hit.
    PfamiPF01007. IRK. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005465. GIRK_kir. 1 hit.
    PRINTSiPR01327. KIR31CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMiSSF81296. SSF81296. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P48549-1) [UniParc]FASTAAdd to Basket

    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

    MSALRRKFGD DYQVVTTSSS GSGLQPQGPG QDPQQQLVPK KKRQRFVDKN    50
    GRCNVQHGNL GSETSRYLSD LFTTLVDLKW RWNLFIFILT YTVAWLFMAS 100
    MWWVIAYTRG DLNKAHVGNY TPCVANVYNF PSAFLFFIET EATIGYGYRY 150
    ITDKCPEGII LFLFQSILGS IVDAFLIGCM FIKMSQPKKR AETLMFSEHA 200
    VISMRDGKLT LMFRVGNLRN SHMVSAQIRC KLLKSRQTPE GEFLPLDQLE 250
    LDVGFSTGAD QLFLVSPLTI CHVIDAKSPF YDLSQRSMQT EQFEIVVILE 300
    GIVETTGMTC QARTSYTEDE VLWGHRFFPV ISLEEGFFKV DYSQFHATFE 350
    VPTPPYSVKE QEEMLLMSSP LIAPAITNSK ERHNSVECLD GLDDITTKLP 400
    SKLQKITGRE DFPKKLLRMS STTSEKAYSL GDLPMKLQRI SSVPGNSEEK 450
    LVSKTTKMLS DPMSQSVADL PPKLQKMAGG AARMEGNLPA KLRKMNSDRF 500
    T 501
    Length:501
    Mass (Da):56,603
    Last modified:February 1, 1996 - v1
    Checksum:i825A28ACE2873269
    GO
    Isoform 2 (identifier: P48549-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         235-235: S → G
         236-501: Missing.

    Show »
    Length:235
    Mass (Da):26,829
    Checksum:i3F44F6C322DAC98B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti271 – 2711C → R in AAH22495. (PubMed:15489334)Curated
    Sequence conflicti291 – 2911E → K in AAH22495. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401K → R.
    Corresponds to variant rs16838016 [ dbSNP | Ensembl ].
    VAR_049669

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei235 – 2351S → G in isoform 2. 2 PublicationsVSP_045432
    Alternative sequencei236 – 501266Missing in isoform 2. 2 PublicationsVSP_045433Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U39196 mRNA. Translation: AAB53094.1.
    U50964 mRNA. Translation: AAB42176.1.
    GU074515 mRNA. Translation: ADB11081.1.
    AK293824 mRNA. Translation: BAG57228.1.
    AC061961 Genomic DNA. No translation available.
    AC093633 Genomic DNA. No translation available.
    AC107060 Genomic DNA. No translation available.
    BC022495 mRNA. Translation: AAH22495.1.
    CCDSiCCDS2200.1. [P48549-1]
    CCDS58733.1. [P48549-2]
    PIRiG02468.
    RefSeqiNP_001247437.1. NM_001260508.1. [P48549-2]
    NP_001247438.1. NM_001260509.1.
    NP_001247439.1. NM_001260510.1.
    NP_002230.1. NM_002239.3. [P48549-1]
    UniGeneiHs.591606.

    Genome annotation databases

    EnsembliENST00000295101; ENSP00000295101; ENSG00000162989. [P48549-1]
    ENST00000544049; ENSP00000438410; ENSG00000162989. [P48549-2]
    GeneIDi3760.
    KEGGihsa:3760.
    UCSCiuc002tyv.2. human. [P48549-1]
    uc010zce.2. human.

    Polymorphism databases

    DMDMi1352482.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U39196 mRNA. Translation: AAB53094.1 .
    U50964 mRNA. Translation: AAB42176.1 .
    GU074515 mRNA. Translation: ADB11081.1 .
    AK293824 mRNA. Translation: BAG57228.1 .
    AC061961 Genomic DNA. No translation available.
    AC093633 Genomic DNA. No translation available.
    AC107060 Genomic DNA. No translation available.
    BC022495 mRNA. Translation: AAH22495.1 .
    CCDSi CCDS2200.1. [P48549-1 ]
    CCDS58733.1. [P48549-2 ]
    PIRi G02468.
    RefSeqi NP_001247437.1. NM_001260508.1. [P48549-2 ]
    NP_001247438.1. NM_001260509.1.
    NP_001247439.1. NM_001260510.1.
    NP_002230.1. NM_002239.3. [P48549-1 ]
    UniGenei Hs.591606.

    3D structure databases

    ProteinModelPortali P48549.
    SMRi P48549. Positions 41-370.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109962. 8 interactions.
    STRINGi 9606.ENSP00000295101.

    Chemistry

    ChEMBLi CHEMBL3038489.
    DrugBanki DB01159. Halothane.
    GuidetoPHARMACOLOGYi 434.

    Protein family/group databases

    TCDBi 1.A.2.1.12. inward rectifier k(+) channel (irk-c) family.

    PTM databases

    PhosphoSitei P48549.

    Polymorphism databases

    DMDMi 1352482.

    Proteomic databases

    PaxDbi P48549.
    PRIDEi P48549.

    Protocols and materials databases

    DNASUi 3760.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295101 ; ENSP00000295101 ; ENSG00000162989 . [P48549-1 ]
    ENST00000544049 ; ENSP00000438410 ; ENSG00000162989 . [P48549-2 ]
    GeneIDi 3760.
    KEGGi hsa:3760.
    UCSCi uc002tyv.2. human. [P48549-1 ]
    uc010zce.2. human.

    Organism-specific databases

    CTDi 3760.
    GeneCardsi GC02P155555.
    HGNCi HGNC:6264. KCNJ3.
    HPAi HPA024231.
    MIMi 601534. gene.
    neXtProti NX_P48549.
    PharmGKBi PA215.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG280776.
    HOGENOMi HOG000237325.
    HOVERGENi HBG006178.
    InParanoidi P48549.
    KOi K04997.
    OMAi SMQSEQF.
    OrthoDBi EOG7XPZ5K.
    PhylomeDBi P48549.
    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 KCNJ3.
    GenomeRNAii 3760.
    NextBioi 14741.
    PROi P48549.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P48549.
    Bgeei P48549.
    CleanExi HS_KCNJ3.
    Genevestigatori P48549.

    Family and domain databases

    Gene3Di 2.60.40.1400. 1 hit.
    InterProi IPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003274. K_chnl_inward-rec_Kir3.1.
    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 PR01327. KIR31CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMi SSF81296. SSF81296. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "A recombinant inwardly rectifying potassium channel coupled to GTP-binding proteins."
      Chan K.W., Langan M.N., Sui J., Kozak A., Pabon A., Ladias J.A.A., Logothetis D.E.
      J. Gen. Physiol. 107:381-397(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Cloning of a G protein-activated inwardly rectifying potassium channel from human cerebellum."
      Schoots O., Yue K.T., Macdonald J.F., Hampson D.R., Nobrega J.N., Dixon L.M., van Tol H.H.M.
      Brain Res. Mol. Brain Res. 39:23-30(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Splice variant hGIRK1d from human breast cancer cells."
      Wagner V., Gorischek A., Bauernhofer T., Schreibmayer W.
      Submitted (OCT-2009) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    4. "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] (ISOFORM 2).
      Tissue: Cerebellum.
    5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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).
      Tissue: Brain.
    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-119.

    Entry informationi

    Entry nameiKCNJ3_HUMAN
    AccessioniPrimary (citable) accession number: P48549
    Secondary accession number(s): B4DEW7, Q8TBI0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: February 1, 1996
    Last modified: October 1, 2014
    This is version 133 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 2
      Human chromosome 2: 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