KCNJ6

KCNJ6
사용 가능한 구조물
PDB	직교 검색: PDBe RCSB
PDB ID 코드 목록
	2E4F, 3AGW, 3AT8, 3AT9, 3ATA, 3ATB, 3ATD, 3ATD, 3ATF, 3ATF, 3AUW, 3SYA, 3SYC, 3SYO, 3SYP, 3SYQ, 3VSQ, 4KFM
식별자
별칭	KCNJ6, BIR1, GIRK-2, GIRK2, KATP-2, KATP2, KCNJ7, KIR3.2, 하이GIRK2, KPLBS, 칼륨 전압 게이트 채널 서브 패밀리 J 6, 내향적으로 정류 채널 서브 패밀리 J 멤버 6
외부 ID	OMIM: 600877 MGI: 104781 호몰로진: 1688 GeneCard: KCNJ6
유전자 위치(인간)
쳇.	21번 염색체(인간)
끝	38,195,345 bp
유전자 위치(마우스)
쳇.	16번 염색체(쥐)
끝	94,798,190 bp
RNA 표현 패턴
	표현된 상단
	중간 측두회; ; 상전두회; ; 등측 전전두피질; ; 브로드만 23구역; ; 중앙 후회; ; 본래의 해마;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	G-단백질 활성화 내부 정류기 칼륨 채널 활성; GO:0001948 단백질 결합; 내부 정류기 칼륨 채널 활성; 전압 게이트 이온 채널 활성;
셀룰러 컴포넌트	막의 적분 성분; 전압 게이트 칼륨 채널 복합체; 플라즈마 막; 골지 기구; 막으로 막다;
생물학적 과정	칼륨 이온 수송; 이온 투과형 수송의 규제; 이온 수송; 운송; 혈장 막 전체에 걸친 칼륨 이온 수입;
	출처:아미고 / 퀵고
직교체
	3763
	16522
	ENSG00000157542
	ENSMUSG00000043301
	P48051
	P48542
	NM_002240
	NM_001025584; NM_001025585; NM_001025590; NM_010606
	NP_002231
	NP_001020755; NP_001020756; NP_001020761; NP_034736
	위키다타
인간 보기/편집	마우스 보기/편집

G단백질활성화된 내부 정류기 칼륨 채널 2는 인간에서 KCNJ6 유전자에 의해 암호화된 단백질이다.^[5]^[6]^[7]KCNJ6 유전자의 돌연변이가 케펜-루빈스키 증후군(KPLBS)의 원인으로 제시됐다.^[8]

함수

칼륨 채널은 대부분의 포유류 세포에 존재하며, 그 세포들은 광범위한 생리학적 반응에 참여한다.이 유전자에 의해 인코딩된 단백질은 일체형 막 단백질과 내적정착형 칼륨 채널이다.세포 밖으로 칼륨이 흐르도록 하는 경향이 큰 인코딩 단백질은 G단백질에 의해 조절되며 포도당에 의한 인슐린 분비 조절에 관여할 수 있다.그것은 두 개의 다른 G-단백질 활성 칼륨 채널과 연계하여 이단극성 모공 형성 복합체를 형성한다.^[7]

상호작용

KCNJ6는 KCNJ9^[9]^[10] 및 DLG1과 상호작용하는 것으로 나타났다.^[11]

참고 항목

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000157542 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG000043301 - 앙상블, 2017년 5월
^ "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.
^ Sakura H, Bond C, Warren-Perry M, Horsley S, Kearney L, Tucker S, Adelman J, Turner R, Ashcroft FM (August 1995). "Characterization and variation of a human inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit". FEBS Lett. 367 (2): 193–7. doi:10.1016/0014-5793(95)00498-X. PMID 7796919. S2CID 21441896.
^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol Rev. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. S2CID 11588492.
^ ^a ^b "Entrez Gene: KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6".
^ Masotti, Andrea; Uva, Paolo; Davis-Keppen, Laura; Basel-Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan (2015-02-05). "Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6". The American Journal of Human Genetics. 96 (2): 295–300. doi:10.1016/j.ajhg.2014.12.011. ISSN 0002-9297. PMC 4320262. PMID 25620207.
^ Jelacic TM, Kennedy ME, Wickman K, Clapham DE (November 2000). "Functional and biochemical evidence for G-protein-gated inwardly rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3". J. Biol. Chem. 275 (46): 36211–6. doi:10.1074/jbc.M007087200. PMID 10956667.
^ Lavine N, Ethier N, Oak JN, Pei L, Liu F, Trieu P, Rebois RV, Bouvier M, Hebert TE, Van Tol HH (November 2002). "G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase". J. Biol. Chem. 277 (48): 46010–9. doi:10.1074/jbc.M205035200. PMID 12297500.
^ Hibino H, Inanobe A, Tanemoto M, Fujita A, Doi K, Kubo T, Hata Y, Takai Y, Kurachi Y (January 2000). "Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain". EMBO J. 19 (1): 78–83. doi:10.1093/emboj/19.1.78. PMC 1171779. PMID 10619846.

추가 읽기

Patil N, Cox DR, Bhat D, Faham M, Myers RM, Peterson AS (1995). "A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation". Nat. Genet. 11 (2): 126–9. doi:10.1038/ng1095-126. PMID 7550338. S2CID 23470275.
Ferrer J, Nichols CG, Makhina EN, Salkoff L, Bernstein J, Gerhard D, Wasson J, Ramanadham S, Permutt A (1995). "Pancreatic islet cells express a family of inwardly rectifying K+ channel subunits which interact to form G-protein-activated channels". J. Biol. Chem. 270 (44): 26086–91. doi:10.1074/jbc.270.44.26086. PMID 7592809.
Tsaur ML, Menzel S, Lai FP, Espinosa R, Concannon P, Spielman RS, Hanis CL, Cox NJ, Le Beau MM, German MS (1995). "Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM". Diabetes. 44 (5): 592–6. doi:10.2337/diabetes.44.5.592. PMID 7729621.
Lesage F, Duprat F, Fink M, Guillemare E, Coppola T, Lazdunski M, Hugnot JP (1994). "Cloning provides evidence for a family of inward rectifier and G-protein coupled K+ channels in the brain". FEBS Lett. 353 (1): 37–42. doi:10.1016/0014-5793(94)01007-2. PMID 7926018. S2CID 25180672.
Liao YJ, Jan YN, Jan LY (1996). "Heteromultimerization of G-protein-gated inwardly rectifying K+ channel proteins GIRK1 and GIRK2 and their altered expression in weaver brain". J. Neurosci. 16 (22): 7137–50. doi:10.1523/JNEUROSCI.16-22-07137.1996. PMC 6578936. PMID 8929423.
Signorini S, Liao YJ, Duncan SA, Jan LY, Stoffel M (1997). "Normal cerebellar development but susceptibility to seizures in mice lacking G protein-coupled, inwardly rectifying K+ channel GIRK2". Proc. Natl. Acad. Sci. U.S.A. 94 (3): 923–7. Bibcode:1997PNAS...94..923S. doi:10.1073/pnas.94.3.923. PMC 19615. PMID 9023358.
Ohira M, Seki N, Nagase T, Suzuki E, Nomura N, Ohara O, Hattori M, Sakaki Y, Eki T, Murakami Y, Saito T, Ichikawa H, Ohki M (1997). "Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21". Genome Res. 7 (1): 47–58. doi:10.1101/gr.7.1.47. PMID 9037601.
Huang CL, Jan YN, Jan LY (1997). "Binding of the G protein betagamma subunit to multiple regions of G protein-gated inward-rectifying K+ channels". FEBS Lett. 405 (3): 291–8. doi:10.1016/S0014-5793(97)00197-X. PMID 9108307. S2CID 44072628.
Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC, Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowski V, Fayet E, Yaspo ML, Korn B, Blouin JL, Lehrach H, Poutska A, Antonarakis SE, Sinet PM, Créau N, Delabar JM (1998). "Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome". Genomics. 48 (1): 12–23. doi:10.1006/geno.1997.5146. PMID 9503011.
Inanobe A, Horio Y, Fujita A, Tanemoto M, Hibino H, Inageda K, Kurachi Y (2000). "Molecular cloning and characterization of a novel splicing variant of the Kir3.2 subunit predominantly expressed in mouse testis". J. Physiol. 521. Pt 1: 19–30. doi:10.1111/j.1469-7793.1999.00019.x. PMC 2269641. PMID 10562331.
Hibino H, Inanobe A, Tanemoto M, Fujita A, Doi K, Kubo T, Hata Y, Takai Y, Kurachi Y (2000). "Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain". EMBO J. 19 (1): 78–83. doi:10.1093/emboj/19.1.78. PMC 1171779. PMID 10619846.
Schoots O, Wilson JM, Ethier N, Bigras E, Hebert TE, Van Tol HH (2000). "Co-expression of human Kir3 subunits can yield channels with different functional properties". Cell. Signal. 11 (12): 871–83. doi:10.1016/S0898-6568(99)00059-5. PMID 10659995.
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
Jelacic TM, Kennedy ME, Wickman K, Clapham DE (2000). "Functional and biochemical evidence for G-protein-gated inwardly rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3". J. Biol. Chem. 275 (46): 36211–6. doi:10.1074/jbc.M007087200. PMID 10956667.
Chen L, Kawano T, Bajic S, Kaziro Y, Itoh H, Art JJ, Nakajima Y, Nakajima S (2002). "A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8430–5. Bibcode:2002PNAS...99.8430C. doi:10.1073/pnas.122682899. PMC 123084. PMID 12034888.
Lavine N, Ethier N, Oak JN, Pei L, Liu F, Trieu P, Rebois RV, Bouvier M, Hebert TE, Van Tol HH (2003). "G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase". J. Biol. Chem. 277 (48): 46010–9. doi:10.1074/jbc.M205035200. PMID 12297500.
Ivanina T, Rishal I, Varon D, Mullner C, Frohnwieser-Steinecke B, Schreibmayer W, Dessauer CW, Dascal N (2003). "Mapping the Gbetagamma-binding sites in GIRK1 and GIRK2 subunits of the G protein-activated K+ channel". J. Biol. Chem. 278 (31): 29174–83. doi:10.1074/jbc.M304518200. PMID 12743112.

외부 링크

KCNJ6+단백질,+인간, 미국 국립 의학 도서관의 의학 과목 제목(MesH)
PDBe-KB에서 UniProt: P48542(Mouse G 단백질 활성화 내부 정류기 칼륨 채널 2)에 대한 PDB에서 사용할 수 있는 모든 구조 정보 개요.

이 기사는 공공영역에 있는 미국 국립 의학 도서관의 텍스트를 통합하고 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000157542 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG000043301 - 앙상블, 2017년 5월

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7796919-5] Sakura H, Bond C, Warren-Perry M, Horsley S, Kearney L, Tucker S, Adelman J, Turner R, Ashcroft FM (August 1995). "Characterization and variation of a human inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit". FEBS Lett. 367 (2): 193–7. doi:10.1016/0014-5793(95)00498-X. PMID 7796919. S2CID 21441896.

[pmid16382105-6] Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol Rev. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. S2CID 11588492.

[entrez-7] "Entrez Gene: KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6".

[8] Masotti, Andrea; Uva, Paolo; Davis-Keppen, Laura; Basel-Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan (2015-02-05). "Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6". The American Journal of Human Genetics. 96 (2): 295–300. doi:10.1016/j.ajhg.2014.12.011. ISSN 0002-9297. PMC 4320262. PMID 25620207.

[pmid10956667-9] Jelacic TM, Kennedy ME, Wickman K, Clapham DE (November 2000). "Functional and biochemical evidence for G-protein-gated inwardly rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3". J. Biol. Chem. 275 (46): 36211–6. doi:10.1074/jbc.M007087200. PMID 10956667.

[pmid12297500-10] Lavine N, Ethier N, Oak JN, Pei L, Liu F, Trieu P, Rebois RV, Bouvier M, Hebert TE, Van Tol HH (November 2002). "G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase". J. Biol. Chem. 277 (48): 46010–9. doi:10.1074/jbc.M205035200. PMID 12297500.

[pmid10619846-11] Hibino H, Inanobe A, Tanemoto M, Fujita A, Doi K, Kubo T, Hata Y, Takai Y, Kurachi Y (January 2000). "Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain". EMBO J. 19 (1): 78–83. doi:10.1093/emboj/19.1.78. PMC 1171779. PMID 10619846.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

Search

KCNJ6

네임스페이스

더

목차

함수

상호작용

참고 항목

참조

추가 읽기

외부 링크