KCNJ10
| KCNJ10 | |||
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| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 1: 160 – 160.07 Mb | Chr 1: 172.17 – 172.2 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.[5][6][7][8]
Function
This gene encodes a member of the inward rectifier-type potassium channel family, Kir4.1, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. Kir4.1, 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.[8]
EAST syndrome
Humans with
Rett Syndrome
Rett syndrome is a neurological disorder characterized by a mutation in the MeCP2 gene. This mutation results in less MeCP2. KCNJ10 expression is upregulated by the transcription factor MeCP2.[11] MeCP2 deficiency leads to less Kir4.1 channels present on astrocytes in the brain. Since there are fewer channels allowing potassium into the cells, extracellular potassium levels are higher. Higher extracellular potassium leaves neurons more easily excitable which could contribute to the epilepsy observed in many Rett Syndrome patients.[12]
Interactions
KCNJ10 has been shown to
See also
- Inward-rectifier potassium ion channel
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000177807 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044708 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 9367690.
- PMID 8995301.
- S2CID 11588492.
- ^ a b "Entrez Gene: KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10".
- PMID 19420365.
- PMID 18218777.
- PMID 29464197.
- S2CID 195834131.
- PMID 10479680.
Further reading
- Horio Y, Hibino H, Inanobe A, Yamada M, Ishii M, Tada Y, et al. (May 1997). "Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95/SAP90". The Journal of Biological Chemistry. 272 (20): 12885–8. PMID 9148889.
- Kurschner C, Mermelstein PG, Holden WT, S2CID 36534759.
- Kurschner C, Yuzaki M (September 1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". The Journal of Neuroscience. 19 (18): 7770–80. PMID 10479680.
- Schoots O, Wilson JM, Ethier N, Bigras E, Hebert TE, Van Tol HH (December 1999). "Co-expression of human Kir3 subunits can yield channels with different functional properties". Cellular Signalling. 11 (12): 871–83. PMID 10659995.
- Fujita A, Horio Y, Higashi K, Mouri T, Hata F, Takeguchi N, Kurachi Y (April 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". The Journal of Physiology. 540 (Pt 1): 85–92. PMID 11927671.
- Farook VS, Hanson RL, Wolford JK, Bogardus C, Prochazka M (November 2002). "Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians". Diabetes. 51 (11): 3342–6. S2CID 44659955.
- Konstas AA, Korbmacher C, Tucker SJ (April 2003). "Identification of domains that control the heteromeric assembly of Kir5.1/Kir4.0 potassium channels". American Journal of Physiology. Cell Physiology. 284 (4): C910–7. S2CID 2525019.
- Casamassima M, D'Adamo MC, Pessia M, Tucker SJ (October 2003). "Identification of a heteromeric interaction that influences the rectification, gating, and pH sensitivity of Kir4.1/Kir5.1 potassium channels". The Journal of Biological Chemistry. 278 (44): 43533–40. PMID 12923169.
- Buono RJ, Lohoff FW, Sander T, Sperling MR, O'Connor MJ, Dlugos DJ, et al. (February 2004). "Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility". Epilepsy Research. 58 (2–3): 175–83. S2CID 3186905.
- Lenzen KP, Heils A, Lorenz S, Hempelmann A, Höfels S, Lohoff FW, et al. (February 2005). "Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy". Epilepsy Research. 63 (2–3): 113–8. S2CID 23643776.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. S2CID 4427026.
- Huang C, Sindic A, Hill CE, Hujer KM, Chan KW, Sassen M, et al. (March 2007). "Interaction of the Ca2+-sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function". American Journal of Physiology. Renal Physiology. 292 (3): F1073–81. PMID 17122384.
External links
- GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
- KCNJ10+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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