KCNJ10
From Wikipedia, the free encyclopedia
Potassium inwardly-rectifying channel, subfamily J, member 10
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Identifiers | ||||||||||||||
Symbol(s) | KCNJ10; BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1 | |||||||||||||
External IDs | OMIM: 602208 MGI: 1194504 HomoloGene: 1689 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 3766 | 16513 | ||||||||||||
Ensembl | ENSG00000177807 | n/a | ||||||||||||
Uniprot | P78508 | n/a | ||||||||||||
Refseq | NM_002241 (mRNA) NP_002232 (protein) |
NM_001039484 (mRNA) NP_001034573 (protein) |
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Location | Chr 1: 158.27 - 158.31 Mb | n/a | ||||||||||||
Pubmed search | [1] | [2] |
Potassium inwardly-rectifying channel, subfamily J, member 10, also known as KCNJ10 or Kir4.1, is a human gene.[1]
This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes.[1]
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[edit] See also
[edit] References
[edit] Further reading
- Kubo Y, Adelman JP, Clapham DE, et al. (2006). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels.". Pharmacol. Rev. 57 (4): 509-26. doi: . PMID 16382105.
- Shuck ME, Piser TM, Bock JH, et al. (1997). "Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3).". J. Biol. Chem. 272 (1): 586-93. PMID 8995301.
- Horio Y, Hibino H, Inanobe A, et al. (1997). "Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95/SAP90.". J. Biol. Chem. 272 (20): 12885-8. PMID 9148889.
- Tada Y, Horio Y, Takumi T, et al. (1998). "Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1.". Genomics 45 (3): 629-30. doi: . PMID 9367690.
- Kurschner C, Mermelstein PG, Holden WT, Surmeier DJ (1998). "CIPP, a novel multivalent PDZ domain protein, selectively interacts with Kir4.0 family members, NMDA receptor subunits, neurexins, and neuroligins.". Mol. Cell. Neurosci. 11 (3): 161-72. doi: . PMID 9647694.
- Kurschner C, Yuzaki M (1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein.". J. Neurosci. 19 (18): 7770-80. PMID 10479680.
- Schoots O, Wilson JM, Ethier N, et al. (2000). "Co-expression of human Kir3 subunits can yield channels with different functional properties.". Cell. Signal. 11 (12): 871-83. PMID 10659995.
- Fujita A, Horio Y, Higashi K, et al. (2002). "Specific localization of an inwardly rectifying K(+) channel, Kir4.1, at the apical membrane of rat gastric parietal cells; its possible involvement in K(+) recycling for the H(+)-K(+)-pump.". J. Physiol. (Lond.) 540 (Pt 1): 85-92. PMID 11927671.
- Farook VS, Hanson RL, Wolford JK, et al. (2002). "Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians.". Diabetes 51 (11): 3342-6. PMID 12401729.
- Konstas AA, Korbmacher C, Tucker SJ (2003). "Identification of domains that control the heteromeric assembly of Kir5.1/Kir4.0 potassium channels.". Am. J. Physiol., Cell Physiol. 284 (4): C910-7. doi: . PMID 12456399.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi: . PMID 12477932.
- Casamassima M, D'Adamo MC, Pessia M, Tucker SJ (2003). "Identification of a heteromeric interaction that influences the rectification, gating, and pH sensitivity of Kir4.1/Kir5.1 potassium channels.". J. Biol. Chem. 278 (44): 43533-40. doi: . PMID 12923169.
- Buono RJ, Lohoff FW, Sander T, et al. (2004). "Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.". Epilepsy Res. 58 (2-3): 175-83. doi: . PMID 15120748.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi: . PMID 15489334.
- Lenzen KP, Heils A, Lorenz S, et al. (2005). "Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy.". Epilepsy Res. 63 (2-3): 113-8. doi: . PMID 15725393.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173-8. doi: . PMID 16189514.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315-21. doi: . PMID 16710414.
- Huang C, Sindic A, Hill CE, et al. (2007). "Interaction of the Ca2+-sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function.". Am. J. Physiol. Renal Physiol. 292 (3): F1073-81. doi: . PMID 17122384.
[edit] External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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