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O60928

- KCJ13_HUMAN

UniProt

O60928 - KCJ13_HUMAN

Protein

Inward rectifier potassium channel 13

Gene

KCNJ13

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
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    Functioni

    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. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei149 – 1491Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity

    GO - Molecular functioni

    1. inward rectifier potassium channel activity Source: UniProtKB

    GO - Biological processi

    1. potassium ion transmembrane transport Source: GOC
    2. potassium ion transport Source: UniProtKB

    Keywords - Molecular functioni

    Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    Potassium

    Protein family/group databases

    TCDBi1.A.2.1.8. inward rectifier k(+) channel (irk-c) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Inward rectifier potassium channel 13
    Alternative name(s):
    Inward rectifier K(+) channel Kir7.1
    Potassium channel, inwardly rectifying subfamily J member 13
    Gene namesi
    Name:KCNJ13
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:6259. KCNJ13.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Snowflake vitreoretinal degeneration (SVD) [MIM:193230]: Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti162 – 1621R → W in SVD; overexpression produces a non-selective cation current that depolarizes transfected cells and increases their fragility. 1 Publication
    VAR_043509
    Leber congenital amaurosis 16 (LCA16) [MIM:614186]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti117 – 1171Q → R in LCA16. 1 Publication
    VAR_066488
    Natural varianti241 – 2411L → P in LCA16. 1 Publication
    VAR_066490

    Keywords - Diseasei

    Cataract, Disease mutation, Leber congenital amaurosis

    Organism-specific databases

    MIMi193230. phenotype.
    614186. phenotype.
    Orphaneti65. Leber congenital amaurosis.
    91496. Snowflake vitreoretinal degeneration.
    PharmGKBiPA30044.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 360360Inward rectifier potassium channel 13PRO_0000154966Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei201 – 2011Phosphoserine; by PKC1 Publication
    Modified residuei287 – 2871Phosphoserine; by PKA1 Publication

    Post-translational modificationi

    Phosphorylation at Ser-201 by PKC strongly inhibits ionic currents, while phosphorylation at Ser-287 by PKA increases them.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO60928.
    PRIDEiO60928.

    PTM databases

    PhosphoSiteiO60928.

    Expressioni

    Tissue specificityi

    Predominantly expressed in small intestine. Expression is also detected in stomach, kidney, and all central nervous system regions tested with the exception of spinal cord.

    Gene expression databases

    BgeeiO60928.
    CleanExiHS_KCNJ13.
    GenevestigatoriO60928.

    Organism-specific databases

    HPAiHPA051609.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000233826.

    Structurei

    3D structure databases

    ProteinModelPortaliO60928.
    SMRiO60928. Positions 19-326.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5353CytoplasmicBy similarityAdd
    BLAST
    Topological domaini79 – 10527ExtracellularBy similarityAdd
    BLAST
    Topological domaini125 – 1339ExtracellularBy similarity
    Topological domaini156 – 360205CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei106 – 11712Helical; Pore-forming; Name=H5By similarityAdd
    BLAST
    Intramembranei118 – 1247Pore-formingBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei54 – 7825Helical; Name=M1By similarityAdd
    BLAST
    Transmembranei134 – 15522Helical; Name=M2By similarityAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi119 – 1246Selectivity filterBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG280854.
    HOGENOMiHOG000237326.
    HOVERGENiHBG006178.
    InParanoidiO60928.
    KOiK05006.
    OMAiASFVVHW.
    OrthoDBiEOG7NW69K.
    PhylomeDBiO60928.
    TreeFamiTF313676.

    Family and domain databases

    Gene3Di2.60.40.1400. 1 hit.
    InterProiIPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    IPR008062. KCNJ13.
    [Graphical view]
    PANTHERiPTHR11767. PTHR11767. 1 hit.
    PTHR11767:SF3. PTHR11767:SF3. 1 hit.
    PfamiPF01007. IRK. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005465. GIRK_kir. 1 hit.
    PRINTSiPR01679. KIR7CHANNEL.
    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: O60928-1) [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

    MDSSNCKVIA PLLSQRYRRM VTKDGHSTLQ MDGAQRGLAY LRDAWGILMD    50
    MRWRWMMLVF SASFVVHWLV FAVLWYVLAE MNGDLELDHD APPENHTICV 100
    KYITSFTAAF SFSLETQLTI GYGTMFPSGD CPSAIALLAI QMLLGLMLEA 150
    FITGAFVAKI ARPKNRAFSI RFTDTAVVAH MDGKPNLIFQ VANTRPSPLT 200
    SVRVSAVLYQ ERENGKLYQT SVDFHLDGIS SDECPFFIFP LTYYHSITPS 250
    SPLATLLQHE NPSHFELVVF LSAMQEGTGE ICQRRTSYLP SEIMLHHCFA 300
    SLLTRGSKGE YQIKMENFDK TVPEFPTPLV SKSPNRTDLD IHINGQSIDN 350
    FQISETGLTE 360
    Length:360
    Mass (Da):40,530
    Last modified:August 1, 1998 - v1
    Checksum:i0C49D0DBC619BC50
    GO
    Isoform 2 (identifier: O60928-2) [UniParc]FASTAAdd to Basket

    Also known as: Kir7.1S

    The sequence of this isoform differs from the canonical sequence as follows:
         76-94: YVLAEMNGDLELDHDAPPE → CFCGEDCPAKKSSFFNSLY
         95-360: Missing.

    Show »
    Length:94
    Mass (Da):10,980
    Checksum:i6AAE08F28C4307FB
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti117 – 1171Q → R in LCA16. 1 Publication
    VAR_066488
    Natural varianti162 – 1621R → Q Found in a patient with autosomal recessive retinitis pigmentosa. 1 Publication
    VAR_066489
    Natural varianti162 – 1621R → W in SVD; overexpression produces a non-selective cation current that depolarizes transfected cells and increases their fragility. 1 Publication
    VAR_043509
    Natural varianti175 – 1751T → I.2 Publications
    Corresponds to variant rs1801251 [ dbSNP | Ensembl ].
    VAR_016193
    Natural varianti241 – 2411L → P in LCA16. 1 Publication
    VAR_066490
    Natural varianti276 – 2761E → A Found in a patient with autosomal recessive retinitis pigmentosa. 1 Publication
    VAR_066491
    Natural varianti290 – 2901P → Q.1 Publication
    Corresponds to variant rs17853727 [ dbSNP | Ensembl ].
    VAR_043510
    Natural varianti309 – 3091G → C.1 Publication
    Corresponds to variant rs17857137 [ dbSNP | Ensembl ].
    VAR_043511

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei76 – 9419YVLAE…DAPPE → CFCGEDCPAKKSSFFNSLY in isoform 2. 2 PublicationsVSP_042627Add
    BLAST
    Alternative sequencei95 – 360266Missing in isoform 2. 2 PublicationsVSP_042628Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ007557 mRNA. Translation: CAA07552.1.
    AF061118 mRNA. Translation: AAC15769.1.
    AY758240 mRNA. Translation: AAX08098.1.
    AY758241 mRNA. Translation: AAX08099.1.
    AB013889 mRNA. Translation: BAA28271.1.
    AB013891 mRNA. Translation: BAA28273.1.
    AJ006128 mRNA. Translation: CAA06878.1.
    AK314019 mRNA. Translation: BAG36730.1.
    AC064852 Genomic DNA. Translation: AAX93190.1.
    CH471063 Genomic DNA. Translation: EAW71019.1.
    BC037290 mRNA. Translation: AAH37290.1.
    AF082182 Genomic DNA. Translation: AAD08673.1.
    CCDSiCCDS2498.1. [O60928-1]
    CCDS54437.1. [O60928-2]
    RefSeqiNP_001165887.1. NM_001172416.1. [O60928-2]
    NP_001165888.1. NM_001172417.1.
    NP_002233.2. NM_002242.4. [O60928-1]
    UniGeneiHs.467338.

    Genome annotation databases

    EnsembliENST00000233826; ENSP00000233826; ENSG00000115474. [O60928-1]
    ENST00000409779; ENSP00000386408; ENSG00000115474. [O60928-2]
    ENST00000410029; ENSP00000386251; ENSG00000115474. [O60928-1]
    GeneIDi3769.
    KEGGihsa:3769.
    UCSCiuc002vtn.3. human. [O60928-2]
    uc002vto.3. human. [O60928-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ007557 mRNA. Translation: CAA07552.1 .
    AF061118 mRNA. Translation: AAC15769.1 .
    AY758240 mRNA. Translation: AAX08098.1 .
    AY758241 mRNA. Translation: AAX08099.1 .
    AB013889 mRNA. Translation: BAA28271.1 .
    AB013891 mRNA. Translation: BAA28273.1 .
    AJ006128 mRNA. Translation: CAA06878.1 .
    AK314019 mRNA. Translation: BAG36730.1 .
    AC064852 Genomic DNA. Translation: AAX93190.1 .
    CH471063 Genomic DNA. Translation: EAW71019.1 .
    BC037290 mRNA. Translation: AAH37290.1 .
    AF082182 Genomic DNA. Translation: AAD08673.1 .
    CCDSi CCDS2498.1. [O60928-1 ]
    CCDS54437.1. [O60928-2 ]
    RefSeqi NP_001165887.1. NM_001172416.1. [O60928-2 ]
    NP_001165888.1. NM_001172417.1.
    NP_002233.2. NM_002242.4. [O60928-1 ]
    UniGenei Hs.467338.

    3D structure databases

    ProteinModelPortali O60928.
    SMRi O60928. Positions 19-326.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000233826.

    Chemistry

    ChEMBLi CHEMBL2146349.
    GuidetoPHARMACOLOGYi 443.

    Protein family/group databases

    TCDBi 1.A.2.1.8. inward rectifier k(+) channel (irk-c) family.

    PTM databases

    PhosphoSitei O60928.

    Proteomic databases

    PaxDbi O60928.
    PRIDEi O60928.

    Protocols and materials databases

    DNASUi 3769.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000233826 ; ENSP00000233826 ; ENSG00000115474 . [O60928-1 ]
    ENST00000409779 ; ENSP00000386408 ; ENSG00000115474 . [O60928-2 ]
    ENST00000410029 ; ENSP00000386251 ; ENSG00000115474 . [O60928-1 ]
    GeneIDi 3769.
    KEGGi hsa:3769.
    UCSCi uc002vtn.3. human. [O60928-2 ]
    uc002vto.3. human. [O60928-1 ]

    Organism-specific databases

    CTDi 3769.
    GeneCardsi GC02M233630.
    GeneReviewsi KCNJ13.
    H-InvDB HIX0002929.
    HGNCi HGNC:6259. KCNJ13.
    HPAi HPA051609.
    MIMi 193230. phenotype.
    603208. gene.
    614186. phenotype.
    neXtProti NX_O60928.
    Orphaneti 65. Leber congenital amaurosis.
    91496. Snowflake vitreoretinal degeneration.
    PharmGKBi PA30044.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG280854.
    HOGENOMi HOG000237326.
    HOVERGENi HBG006178.
    InParanoidi O60928.
    KOi K05006.
    OMAi ASFVVHW.
    OrthoDBi EOG7NW69K.
    PhylomeDBi O60928.
    TreeFami TF313676.

    Miscellaneous databases

    GeneWikii KCNJ13.
    GenomeRNAii 3769.
    NextBioi 14781.
    PROi O60928.
    SOURCEi Search...

    Gene expression databases

    Bgeei O60928.
    CleanExi HS_KCNJ13.
    Genevestigatori O60928.

    Family and domain databases

    Gene3Di 2.60.40.1400. 1 hit.
    InterProi IPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    IPR008062. KCNJ13.
    [Graphical view ]
    PANTHERi PTHR11767. PTHR11767. 1 hit.
    PTHR11767:SF3. PTHR11767:SF3. 1 hit.
    Pfami PF01007. IRK. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005465. GIRK_kir. 1 hit.
    PRINTSi PR01679. KIR7CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMi SSF81296. SSF81296. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine."
      Partiseti M., Collura V., Agnel M., Culouscou J.-M., Graham D.
      FEBS Lett. 434:171-176(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-175.
      Tissue: Brain.
    2. "A novel inward rectifier K+ channel with unique pore properties."
      Krapivinsky G., Medina I., Eng L., Krapivinsky L., Yang Y., Clapham D.E.
      Neuron 20:995-1005(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    3. "Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium."
      Yang D., Swaminathan A., Zhang X., Hughes B.A.
      Exp. Eye Res. 86:81-91(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING.
      Tissue: Eye.
    4. Hirose S., Suzuki Y., Nakamura N.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Small intestine.
    5. Nakamura N., Matsuki T., Suzuki Y., Sakuta H., Ito T., Hirose S.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    6. "Unique epithelial Kir7.1 subunit defines a new subfamily of inwardly rectifying potassium channels."
      Doering F., Derst C., Wischmeyer E., Karschin C., Daut J., Karschin A.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    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] (ISOFORM 2).
      Tissue: Hippocampus.
    8. "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].
    9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    10. "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), VARIANTS ILE-175; GLN-290 AND CYS-309.
      Tissue: Brain.
    11. "Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13)."
      Derst C., Doring F., Preisig-M ueller R., Daut J., Karschin A., Jeck N., Weber S., Engel H., Grzeschik K.-H.
      Genomics 54:560-563(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 147-175.
    12. "Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and protein Kinase C."
      Zhang W., Zitron E., Bloehs R., Muller-Krebs S., Scholz E., Zeier M., Katus H., Karle C., Schwenger V.
      Biochem. Biophys. Res. Commun. 377:981-986(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-201 AND SER-287.
    13. "Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration."
      Hejtmancik J.F., Jiao X., Li A., Sergeev Y.V., Ding X., Sharma A.K., Chan C.-C., Medina I., Edwards A.O.
      Am. J. Hum. Genet. 82:174-180(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SVD TRP-162, CHARACTERIZATION OF VARIANT SVD TRP-162.
    14. "Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis."
      Sergouniotis P.I., Davidson A.E., Mackay D.S., Li Z., Yang X., Plagnol V., Moore A.T., Webster A.R.
      Am. J. Hum. Genet. 89:183-190(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LCA16 ARG-117 AND PRO-241, VARIANTS GLN-162 AND ALA-276.

    Entry informationi

    Entry nameiKCJ13_HUMAN
    AccessioniPrimary (citable) accession number: O60928
    Secondary accession number(s): A0PGH1
    , O76023, Q53SA1, Q8N3Y4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 136 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