HCN4

HCN4
사용 가능한 구조물
PDB	직교 검색: PDBe RCSB
PDB ID 코드 목록
	2MNG, 3OTF, 3U11, 4HBN, 4KL1, 4NVP
식별자
별칭	HCN4, SSS2, 초극화 활성화 사이클 뉴클레오티드 게이트 칼륨 채널 4, BRGDA8, EIG18
외부 ID	OMIM: 605206 MGI: 1298209 HomoloGene: 3997 GeneCard: HCN4
유전자 위치(인간)
쳇.	15번 염색체(인간)
끝	73,368,958 bp
유전자 위치(마우스)
쳇.	9번 염색체(쥐)
끝	58,770,458 bp
RNA 표현 패턴
	표현된 상단
	좌심실; ; 우심실; ; 고환; ; 위두근; ; 하트;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	뉴클레오티드 결합; 칼륨 채널 활성; cAMP 바인딩; 나트륨 채널 활성; 전압 게이트 이온 채널 활성; 이온 채널 활성; 세포내 cAMP로 활성화된 cation channel 활동; 동일한 단백질 결합; 전압 게이트 칼륨 채널 활성; 전압 게이트 나트륨 채널 활성; SA 노드 셀 작용 잠재적 탈극화에 관련된 전압 게이트 칼륨 채널 활성;
셀룰러 컴포넌트	막의 적분 성분; 막으로 막다; 플라즈마 막의 내적 성분; 플라즈마 막; 세포질 과핵 지역; HCN 채널 복합체;
생물학적 과정	cGMP에 대한 셀룰러; 근육 수축; 나트륨 이온 트랜섬브레인 수송; 나트륨 이온 수송; SA 노드 셀 작용 가능성; 막 전위 조절; 이온 투과형 수송의 규제; 양이온 수송; 이온 수송; 혈액 순환; 막 탈극화 규제; 심박수 조절; 칼륨 이온 수송; 트랜스엠브레인 수송; 칼륨 이온트렌브레인 수송; 심장근육수축 조절; 심장 전도에 의한 심박수 조절; cAMP에 대한 세포 반응; 심장근육세포 작용전위 중 막탈극화; SA 노드 셀 작용 전위 중 막 탈극화; 플라즈마 막 전체에 걸친 나트륨 이온 수입; 수축 조절에 관련된 심장 근육 세포 작용 잠재력 조절; 혈장 막 전체에 걸친 칼륨 이온 수입;
	출처:아미고 / 퀵고
직교체
	10021
	330953
	ENSG00000138622
	ENSMUSG00000032338
	Q9Y3Q4
	O70507
	NM_005477
	NM_001081192
	NP_005468
	NP_001074661
	위키다타
인간 보기/편집	마우스 보기/편집

칼륨/소듐 초극화 활성 주기 뉴클레오티드 게이트 채널 4는 인간에서 HCN4 유전자에 의해 인코딩되는 단백질이다.^[5]^[6]^[7]^[8]

HCN 채널은 4개다.HCN4는 포유류 심장의 페이스메이커 부위에서 두드러지게 표현된다.^[9]서맥증과 부비동 증후군을 가진 일부 인간들은 HCN4 유전자에 돌연변이를 가지고 있는 것으로 밝혀졌다.^[10]^[11]^[12]심박수의 자율 제어에서 HCN 채널의 역할은 현재 조사가 진행 중인 사안이다.^[13]^[14]^[15]^[16]

상호작용

HCN4는 HCN2와 상호작용하는 것으로 나타났다.^[17]

참고 항목

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000138622 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG000032338 - 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.
^ Ludwig A, Zong X, Stieber J, Hullin R, Hofmann F, Biel M (May 1999). "Two pacemaker channels from human heart with profoundly different activation kinetics". The EMBO Journal. 18 (9): 2323–9. doi:10.1093/emboj/18.9.2323. PMC 1171315. PMID 10228147.
^ Seifert R, Scholten A, Gauss R, Mincheva A, Lichter P, Kaupp UB (Aug 1999). "Molecular characterization of a slowly gating human hyperpolarization-activated channel predominantly expressed in thalamus, heart, and testis". Proceedings of the National Academy of Sciences of the United States of America. 96 (16): 9391–6. Bibcode:1999PNAS...96.9391S. doi:10.1073/pnas.96.16.9391. PMC 17793. PMID 10430953.
^ Hofmann F, Biel M, Kaupp UB (Dec 2005). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacological Reviews. 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID 16382102. S2CID 45853869.
^ "Entrez Gene: HCN4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4".
^ Baruscotti M, Bucchi A, Viscomi C, Mandelli G, Consalez G, Gnecchi-Rusconi T, Montano N, Casali KR, Micheloni S, Barbuti A, DiFrancesco D (Jan 2011). "Deep bradycardia and heart block caused by inducible cardiac-specific knockout of the pacemaker channel gene Hcn4". Proceedings of the National Academy of Sciences of the United States of America. 108 (4): 1705–10. Bibcode:2011PNAS..108.1705B. doi:10.1073/pnas.1010122108. PMC 3029742. PMID 21220308.
^ Jou, Chuanchau J.; Arrington, Cammon B.; Barnett, Spencer M; Shen, Jiaxiang; Cho, Scott; Sheng, Xiaoming; McCullagh, Patrick C.; Bowles, Neil E.; Pribble, Chase M.; Saarel, Elizabeth V.; Pilcher, Thomas A.; Etheridge, Susan P.; Tristani-Firouzi, Martin (2017). "A Functional Assay for Sick Sinus Syndrome Genetic Variants". Cellular Physiology and Biochemistry. 42 (5): 2021–2029. doi:10.1159/000479897. ISSN 1015-8987. PMID 28803248.
^ Schulze-Bahr E, Neu A, Friederich P, Kaupp UB, Breithardt G, Pongs O, Isbrandt D (May 2003). "Pacemaker channel dysfunction in a patient with sinus node disease". The Journal of Clinical Investigation. 111 (10): 1537–45. doi:10.1172/JCI16387. PMC 155041. PMID 12750403.
^ Laish-Farkash A, Glikson M, Brass D, Marek-Yagel D, Pras E, Dascal N, Antzelevitch C, Nof E, Reznik H, Eldar M, Luria D (Dec 2010). "A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews". Journal of Cardiovascular Electrophysiology. 21 (12): 1365–72. doi:10.1111/j.1540-8167.2010.01844.x. PMC 3005590. PMID 20662977.
^ Larsson HP (Sep 2010). "How is the heart rate regulated in the sinoatrial node? Another piece to the puzzle". The Journal of General Physiology. 136 (3): 237–41. doi:10.1085/jgp.201010506. PMC 2931147. PMID 20713549.
^ Schweizer PA, Duhme N, Thomas D, Becker R, Zehelein J, Draguhn A, Bruehl C, Katus HA, Koenen M (Oct 2010). "cAMP sensitivity of HCN pacemaker channels determines basal heart rate but is not critical for autonomic rate control". Circulation: Arrhythmia and Electrophysiology. 3 (5): 542–52. doi:10.1161/CIRCEP.110.949768. PMID 20693575.
^ Liao Z, Lockhead D, Larson ED, Proenza C (Sep 2010). "Phosphorylation and modulation of hyperpolarization-activated HCN4 channels by protein kinase A in the mouse sinoatrial node". The Journal of General Physiology. 136 (3): 247–58. doi:10.1085/jgp.201010488. PMC 2931151. PMID 20713547.
^ Nof E, Antzelevitch C, Glikson M (Jan 2010). "The Contribution of HCN4 to normal sinus node function in humans and animal models". Pacing and Clinical Electrophysiology. 33 (1): 100–6. doi:10.1111/j.1540-8159.2009.02563.x. PMC 2865562. PMID 19796353.
^ Much B, Wahl-Schott C, Zong X, Schneider A, Baumann L, Moosmang S, Ludwig A, Biel M (Oct 2003). "Role of subunit heteromerization and N-linked glycosylation in the formation of functional hyperpolarization-activated cyclic nucleotide-gated channels". The Journal of Biological Chemistry. 278 (44): 43781–6. doi:10.1074/jbc.M306958200. PMID 12928435.

추가 읽기

Qu J, Altomare C, Bucchi A, DiFrancesco D, Robinson RB (Aug 2002). "Functional comparison of HCN isoforms expressed in ventricular and HEK 293 cells". Pflügers Archiv. 444 (5): 597–601. doi:10.1007/s00424-002-0860-7. PMID 12194012. S2CID 508732.
Schulze-Bahr E, Neu A, Friederich P, Kaupp UB, Breithardt G, Pongs O, Isbrandt D (May 2003). "Pacemaker channel dysfunction in a patient with sinus node disease". The Journal of Clinical Investigation. 111 (10): 1537–45. doi:10.1172/JCI16387. PMC 155041. PMID 12750403.
Stieber J, Thomer A, Much B, Schneider A, Biel M, Hofmann F (Sep 2003). "Molecular basis for the different activation kinetics of the pacemaker channels HCN2 and HCN4". The Journal of Biological Chemistry. 278 (36): 33672–80. doi:10.1074/jbc.M305318200. PMID 12813043.
Decher N, Bundis F, Vajna R, Steinmeyer K (Sep 2003). "KCNE2 modulates current amplitudes and activation kinetics of HCN4: influence of KCNE family members on HCN4 currents". Pflügers Archiv. 446 (6): 633–40. doi:10.1007/s00424-003-1127-7. PMID 12856183. S2CID 21513896.
Much B, Wahl-Schott C, Zong X, Schneider A, Baumann L, Moosmang S, Ludwig A, Biel M (Oct 2003). "Role of subunit heteromerization and N-linked glycosylation in the formation of functional hyperpolarization-activated cyclic nucleotide-gated channels". The Journal of Biological Chemistry. 278 (44): 43781–6. doi:10.1074/jbc.M306958200. PMID 12928435.
Ueda K, Nakamura K, Hayashi T, Inagaki N, Takahashi M, Arimura T, Morita H, Higashiuesato Y, Hirano Y, Yasunami M, Takishita S, Yamashina A, Ohe T, Sunamori M, Hiraoka M, Kimura A (Jun 2004). "Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia". The Journal of Biological Chemistry. 279 (26): 27194–8. doi:10.1074/jbc.M311953200. PMID 15123648.
Michels G, Er F, Khan I, Südkamp M, Herzig S, Hoppe UC (Feb 2005). "Single-channel properties support a potential contribution of hyperpolarization-activated cyclic nucleotide-gated channels and If to cardiac arrhythmias". Circulation. 111 (4): 399–404. doi:10.1161/01.CIR.0000153799.65783.3A. PMID 15687126.
Milanesi R, Baruscotti M, Gnecchi-Ruscone T, DiFrancesco D (Jan 2006). "Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel". The New England Journal of Medicine. 354 (2): 151–7. doi:10.1056/NEJMoa052475. PMID 16407510.
Elinder F, Männikkö R, Pandey S, Larsson HP (Sep 2006). "Mode shifts in the voltage gating of the mouse and human HCN2 and HCN4 channels". The Journal of Physiology. 575 (Pt 2): 417–31. doi:10.1113/jphysiol.2006.110437. PMC 1819464. PMID 16777944.
Nof E, Luria D, Brass D, Marek D, Lahat H, Reznik-Wolf H, Pras E, Dascal N, Eldar M, Glikson M (Jul 2007). "Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia". Circulation. 116 (5): 463–70. doi:10.1161/CIRCULATIONAHA.107.706887. PMID 17646576.

외부 링크

Brugada 증후군에 대한 GeneReviews/NIH/NCBI/UW 입력
HCN4+단백질,+인간, 미국 국립 의학 도서관의 의학 과목 제목(MesH)
UCSC 게놈 브라우저에서 HCN4 인간 유전자 위치.
UCSC 게놈 브라우저의 HCN4 인간 유전자 세부 정보.

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

이 막 단백질 관련 기사는 뭉툭하다.위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000138622 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG000032338 - 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.

[pmid10228147-5] Ludwig A, Zong X, Stieber J, Hullin R, Hofmann F, Biel M (May 1999). "Two pacemaker channels from human heart with profoundly different activation kinetics". The EMBO Journal. 18 (9): 2323–9. doi:10.1093/emboj/18.9.2323. PMC 1171315. PMID 10228147.

[pmid10430953-6] Seifert R, Scholten A, Gauss R, Mincheva A, Lichter P, Kaupp UB (Aug 1999). "Molecular characterization of a slowly gating human hyperpolarization-activated channel predominantly expressed in thalamus, heart, and testis". Proceedings of the National Academy of Sciences of the United States of America. 96 (16): 9391–6. Bibcode:1999PNAS...96.9391S. doi:10.1073/pnas.96.16.9391. PMC 17793. PMID 10430953.

[pmid16382102-7] Hofmann F, Biel M, Kaupp UB (Dec 2005). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacological Reviews. 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID 16382102. S2CID 45853869.

[entrez-8] "Entrez Gene: HCN4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4".

[9] Baruscotti M, Bucchi A, Viscomi C, Mandelli G, Consalez G, Gnecchi-Rusconi T, Montano N, Casali KR, Micheloni S, Barbuti A, DiFrancesco D (Jan 2011). "Deep bradycardia and heart block caused by inducible cardiac-specific knockout of the pacemaker channel gene Hcn4". Proceedings of the National Academy of Sciences of the United States of America. 108 (4): 1705–10. Bibcode:2011PNAS..108.1705B. doi:10.1073/pnas.1010122108. PMC 3029742. PMID 21220308.

[Jou,_et_al-10] Jou, Chuanchau J.; Arrington, Cammon B.; Barnett, Spencer M; Shen, Jiaxiang; Cho, Scott; Sheng, Xiaoming; McCullagh, Patrick C.; Bowles, Neil E.; Pribble, Chase M.; Saarel, Elizabeth V.; Pilcher, Thomas A.; Etheridge, Susan P.; Tristani-Firouzi, Martin (2017). "A Functional Assay for Sick Sinus Syndrome Genetic Variants". Cellular Physiology and Biochemistry. 42 (5): 2021–2029. doi:10.1159/000479897. ISSN 1015-8987. PMID 28803248.

[11] Schulze-Bahr E, Neu A, Friederich P, Kaupp UB, Breithardt G, Pongs O, Isbrandt D (May 2003). "Pacemaker channel dysfunction in a patient with sinus node disease". The Journal of Clinical Investigation. 111 (10): 1537–45. doi:10.1172/JCI16387. PMC 155041. PMID 12750403.

[12] Laish-Farkash A, Glikson M, Brass D, Marek-Yagel D, Pras E, Dascal N, Antzelevitch C, Nof E, Reznik H, Eldar M, Luria D (Dec 2010). "A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews". Journal of Cardiovascular Electrophysiology. 21 (12): 1365–72. doi:10.1111/j.1540-8167.2010.01844.x. PMC 3005590. PMID 20662977.

[13] Larsson HP (Sep 2010). "How is the heart rate regulated in the sinoatrial node? Another piece to the puzzle". The Journal of General Physiology. 136 (3): 237–41. doi:10.1085/jgp.201010506. PMC 2931147. PMID 20713549.

[14] Schweizer PA, Duhme N, Thomas D, Becker R, Zehelein J, Draguhn A, Bruehl C, Katus HA, Koenen M (Oct 2010). "cAMP sensitivity of HCN pacemaker channels determines basal heart rate but is not critical for autonomic rate control". Circulation: Arrhythmia and Electrophysiology. 3 (5): 542–52. doi:10.1161/CIRCEP.110.949768. PMID 20693575.

[15] Liao Z, Lockhead D, Larson ED, Proenza C (Sep 2010). "Phosphorylation and modulation of hyperpolarization-activated HCN4 channels by protein kinase A in the mouse sinoatrial node". The Journal of General Physiology. 136 (3): 247–58. doi:10.1085/jgp.201010488. PMC 2931151. PMID 20713547.

[16] Nof E, Antzelevitch C, Glikson M (Jan 2010). "The Contribution of HCN4 to normal sinus node function in humans and animal models". Pacing and Clinical Electrophysiology. 33 (1): 100–6. doi:10.1111/j.1540-8159.2009.02563.x. PMC 2865562. PMID 19796353.

[pmid12928435-17] Much B, Wahl-Schott C, Zong X, Schneider A, Baumann L, Moosmang S, Ludwig A, Biel M (Oct 2003). "Role of subunit heteromerization and N-linked glycosylation in the formation of functional hyperpolarization-activated cyclic nucleotide-gated channels". The Journal of Biological Chemistry. 278 (44): 43781–6. doi:10.1074/jbc.M306958200. PMID 12928435.

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HCN4

네임스페이스

더

목차

상호작용

참고 항목

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