HCN1

HCN1
사용 가능한 구조물
PDB	직교 검색: PDBe RCSB
PDB ID 코드 목록
	3U0Z
식별자
별칭	HCN1, BCNG-1, BCNG1, EIEE24, HAC-2, 초극화 활성화 사이클 뉴클레오티드 게이트 칼륨 채널 1, GEFSP10, DE24
외부 ID	OMIM: 602780 MGI: 1096392 HomoloGene: 32093 GeneCard: HCN1
유전자 위치(인간)
쳇.	5번 염색체(인간)
끝	45,696,498 bp
유전자 위치(마우스)
쳇.	13번 염색체(쥐)
끝	118,123,954 bp
RNA 표현 패턴
	표현된 상단
	두정엽; ; 브로드만 23구역; ; 등측 전전두피질; ; 후두엽; ; 삼위일체; ; 대뇌피질; ; 브로드만 구역 46; ; 중간 측두회;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	뉴클레오티드 결합; 세포내 cAMP로 활성화된 cation channel 활동; 동일한 단백질 결합; 전압 게이트 나트륨 채널 활성; 이온 채널 활성; 칼륨 채널 활성; 나트륨 채널 활성; 전압 게이트 이온 채널 활성; 전압 게이트 칼륨 채널 활성; 전압 게이트 채널 활동; cAMP 바인딩; GO:0001948 단백질 결합;
셀룰러 컴포넌트	액손; 막으로 막다; 덴드라이트; 플라즈마 막; 막의 적분 성분; HCN 채널 복합체; 플라스마 막의 적분 성분;
생물학적 과정	트랜스엠브레인 수송; 망막 원추 세포 발달; 이온 투과형 수송의 규제; 단백질의 지방화; 이온 수송; 나트륨 이온 수송; 막 전위 조절; 나트륨 이온 트랜섬브레인 수송; 칼륨 이온트렌브레인 수송; 칼륨 이온 수송; 단백질 균질화; cAMP에 대한 세포 반응;
	출처:아미고 / 퀵고
직교체
	348980
	15165
	ENSG00000164588
	ENSMUSG00000021730
	O60741
	O88704
	NM_021072
	NM_010408
	NP_066550
	NP_034538
	위키다타
인간 보기/편집	마우스 보기/편집

칼륨/소듐 초극화 활성 주기 뉴클레오티드 게이트 채널 1은 인간에서 HCN1 유전자에 의해 인코딩되는 단백질이다.^[5]^[6]^[7]^[8]

함수

HCN1과 같은 HCN 유전자 계열의 초극화 활성 양이온 채널은 심장과 뇌 모두에서 자발적인 리듬 활동에 기여한다.^[8]

조직 분포

HCN1 채널 표현은 신피질,^[9]^[10] 신피질, 해마, 소뇌피질, 등근성 갱년기, 삼차성 갱년기 및 뇌계에서 발견된다.^[11]^[12]^[13]^[14]^[15]

상호작용

HCN1은 HCN2와 상호작용하는 것으로 나타났다.^[16]^[17]

뇌전증

HCN1의 데 노보 돌연변이는 간질을 유발한다.^[18]

참고 항목

순환 뉴클레오티드 게이트 이온 채널

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000164588 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG000021730 - 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.
^ Santoro B, Grant SG, Bartsch D, Kandel ER (Dec 1997). "Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to eag and cyclic nucleotide-gated channels". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14815–20. Bibcode:1997PNAS...9414815S. doi:10.1073/pnas.94.26.14815. PMC 25120. PMID 9405696.
^ Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA, Tibbs GR (May 1998). "Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain". Cell. 93 (5): 717–29. doi:10.1016/S0092-8674(00)81434-8. PMID 9630217.
^ 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.
^ ^a ^b "Entrez Gene: HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1".
^ Marionneau C, Couette B, Liu J, Li H, Mangoni ME, Nargeot J, Lei M, Escande D, Demolombe S (Jan 2005). "Specific pattern of ionic channel gene expression associated with pacemaker activity in the mouse heart". The Journal of Physiology. 562 (Pt 1): 223–34. doi:10.1113/jphysiol.2004.074047. PMC 1665484. PMID 15498808.
^ Shi W, Wymore R, Yu H, Wu J, Wymore RT, Pan Z, Robinson RB, Dixon JE, McKinnon D, Cohen IS (Jul 1999). "Distribution and prevalence of hyperpolarization-activated cation channel (HCN) mRNA expression in cardiac tissues". Circulation Research. 85 (1): e1–6. doi:10.1161/01.RES.85.1.e1. PMID 10400919.
^ Lörincz A, Notomi T, Tamás G, Shigemoto R, Nusser Z (Nov 2002). "Polarized and compartment-dependent distribution of HCN1 in pyramidal cell dendrites". Nature Neuroscience. 5 (11): 1185–93. doi:10.1038/nn962. PMID 12389030. S2CID 18132966.
^ Milligan CJ, Edwards IJ, Deuchars J (Apr 2006). "HCN1 ion channel immunoreactivity in spinal cord and medulla oblongata". Brain Research. 1081 (1): 79–91. doi:10.1016/j.brainres.2006.01.019. PMID 16503331. S2CID 30929772.
^ Moosmang S, Biel M, Hofmann F, Ludwig A (1999). "Differential distribution of four hyperpolarization-activated cation channels in mouse brain". Biological Chemistry. 380 (7–8): 975–80. doi:10.1515/BC.1999.121. PMID 10494850. S2CID 22722872.
^ Wells JE, Rowland KC, Proctor EK (Sep 2007). "Hyperpolarization-activated channels in trigeminal ganglia innervating healthy and pulp-exposed teeth". International Endodontic Journal. 40 (9): 715–21. doi:10.1111/j.1365-2591.2007.01297.x. PMID 17645513.
^ Santoro B, Grant SG, Bartsch D, Kandel ER (Dec 1997). "Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to eag and cyclic nucleotide-gated channels". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14815–20. Bibcode:1997PNAS...9414815S. doi:10.1073/pnas.94.26.14815. PMC 25120. PMID 9405696.
^ 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.
^ Proenza C, Tran N, Angoli D, Zahynacz K, Balcar P, Accili EA (Aug 2002). "Different roles for the cyclic nucleotide binding domain and amino terminus in assembly and expression of hyperpolarization-activated, cyclic nucleotide-gated channels". The Journal of Biological Chemistry. 277 (33): 29634–42. doi:10.1074/jbc.M200504200. PMID 12034718.
^ Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP, Haaf T, LeGuern E, Depienne C (Jun 2014). "De novo mutations in HCN1 cause early infantile epileptic encephalopathy" (PDF). Nature Genetics. 46 (6): 640–5. doi:10.1038/ng.2952. PMID 24747641. S2CID 861414.

추가 읽기

Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Ludwig A, Zong X, Jeglitsch M, Hofmann F, Biel M (Jun 1998). "A family of hyperpolarization-activated mammalian cation channels". Nature. 393 (6685): 587–91. Bibcode:1998Natur.393..587L. doi:10.1038/31255. PMID 9634236. S2CID 4429453.
Kleiderlein JJ, Nisson PE, Jessee J, Li WB, Becker KG, Derby ML, Ross CA, Margolis RL (Dec 1998). "CCG repeats in cDNAs from human brain". Human Genetics. 103 (6): 666–73. doi:10.1007/s004390050889. PMID 9921901. S2CID 23696667.
Ulens C, Tytgat J (Mar 2001). "Functional heteromerization of HCN1 and HCN2 pacemaker channels". The Journal of Biological Chemistry. 276 (9): 6069–72. doi:10.1074/jbc.C000738200. PMID 11133998.
Proenza C, Tran N, Angoli D, Zahynacz K, Balcar P, Accili EA (Aug 2002). "Different roles for the cyclic nucleotide binding domain and amino terminus in assembly and expression of hyperpolarization-activated, cyclic nucleotide-gated channels". The Journal of Biological Chemistry. 277 (33): 29634–42. doi:10.1074/jbc.M200504200. PMID 12034718.
Chaplan SR, Guo HQ, Lee DH, Luo L, Liu C, Kuei C, Velumian AA, Butler MP, Brown SM, Dubin AE (Feb 2003). "Neuronal hyperpolarization-activated pacemaker channels drive neuropathic pain". The Journal of Neuroscience. 23 (4): 1169–78. doi:10.1523/JNEUROSCI.23-04-01169.2003. PMC 6742242. PMID 12598605.
Lesso H, Li RA (Jun 2003). "Helical secondary structure of the external S3-S4 linker of pacemaker (HCN) channels revealed by site-dependent perturbations of activation phenotype". The Journal of Biological Chemistry. 278 (25): 22290–7. doi:10.1074/jbc.M302466200. PMID 12668666.
Bender RA, Soleymani SV, Brewster AL, Nguyen ST, Beck H, Mathern GW, Baram TZ (Jul 2003). "Enhanced expression of a specific hyperpolarization-activated cyclic nucleotide-gated cation channel (HCN) in surviving dentate gyrus granule cells of human and experimental epileptic hippocampus". The Journal of Neuroscience. 23 (17): 6826–36. doi:10.1523/JNEUROSCI.23-17-06826.2003. PMC 3100807. PMID 12890777.
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.
He C, Chen F, Li B, Hu Z (Jan 2014). "Neurophysiology of HCN channels: from cellular functions to multiple regulations". Progress in Neurobiology. 112: 1–23. doi:10.1016/j.pneurobio.2013.10.001. PMID 24184323. S2CID 37519503.
Wahl-Schott C, Fenske S, Biel M (Apr 2014). "HCN channels: new roles in sinoatrial node function". Current Opinion in Pharmacology. 15: 83–90. doi:10.1016/j.coph.2013.12.005. PMID 24441197.

외부 링크

HCN1+단백질,+인간, 미국 국립 의학 도서관의 의학 과목 제목(MesH)
PDBe-KB에서 UniProt: O60741(휴먼 칼륨/소듐 초극화 활성화 사이클 뉴클레오티드 게이트 채널 1)에 대한 PDB의 모든 구조 정보 개요.
PDBe-KB에서 UniProt: O88704(마우스 칼륨/소듐 초극화 활성화 사이클 뉴클레오티드 게이트 채널 1)에 대한 PDB의 모든 구조 정보 개요.

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: ENSG00000164588 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG000021730 - 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.

[pmid9405696-5] Santoro B, Grant SG, Bartsch D, Kandel ER (Dec 1997). "Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to eag and cyclic nucleotide-gated channels". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14815–20. Bibcode:1997PNAS...9414815S. doi:10.1073/pnas.94.26.14815. PMC 25120. PMID 9405696.

[pmid9630217-6] Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA, Tibbs GR (May 1998). "Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain". Cell. 93 (5): 717–29. doi:10.1016/S0092-8674(00)81434-8. PMID 9630217.

[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: HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1".

[MarionneauCouette2005-9] Marionneau C, Couette B, Liu J, Li H, Mangoni ME, Nargeot J, Lei M, Escande D, Demolombe S (Jan 2005). "Specific pattern of ionic channel gene expression associated with pacemaker activity in the mouse heart". The Journal of Physiology. 562 (Pt 1): 223–34. doi:10.1113/jphysiol.2004.074047. PMC 1665484. PMID 15498808.

[ShiWymore1999-10] Shi W, Wymore R, Yu H, Wu J, Wymore RT, Pan Z, Robinson RB, Dixon JE, McKinnon D, Cohen IS (Jul 1999). "Distribution and prevalence of hyperpolarization-activated cation channel (HCN) mRNA expression in cardiac tissues". Circulation Research. 85 (1): e1–6. doi:10.1161/01.RES.85.1.e1. PMID 10400919.

[LörinczNotomi2002-11] Lörincz A, Notomi T, Tamás G, Shigemoto R, Nusser Z (Nov 2002). "Polarized and compartment-dependent distribution of HCN1 in pyramidal cell dendrites". Nature Neuroscience. 5 (11): 1185–93. doi:10.1038/nn962. PMID 12389030. S2CID 18132966.

[MilliganEdwards2006-12] Milligan CJ, Edwards IJ, Deuchars J (Apr 2006). "HCN1 ion channel immunoreactivity in spinal cord and medulla oblongata". Brain Research. 1081 (1): 79–91. doi:10.1016/j.brainres.2006.01.019. PMID 16503331. S2CID 30929772.

[MoosmangBiel1999-13] Moosmang S, Biel M, Hofmann F, Ludwig A (1999). "Differential distribution of four hyperpolarization-activated cation channels in mouse brain". Biological Chemistry. 380 (7–8): 975–80. doi:10.1515/BC.1999.121. PMID 10494850. S2CID 22722872.

[WellsRowland2007-14] Wells JE, Rowland KC, Proctor EK (Sep 2007). "Hyperpolarization-activated channels in trigeminal ganglia innervating healthy and pulp-exposed teeth". International Endodontic Journal. 40 (9): 715–21. doi:10.1111/j.1365-2591.2007.01297.x. PMID 17645513.

[15] Santoro B, Grant SG, Bartsch D, Kandel ER (Dec 1997). "Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to eag and cyclic nucleotide-gated channels". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14815–20. Bibcode:1997PNAS...9414815S. doi:10.1073/pnas.94.26.14815. PMC 25120. PMID 9405696.

[pmid12928435-16] 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.

[pmid12034718-17] Proenza C, Tran N, Angoli D, Zahynacz K, Balcar P, Accili EA (Aug 2002). "Different roles for the cyclic nucleotide binding domain and amino terminus in assembly and expression of hyperpolarization-activated, cyclic nucleotide-gated channels". The Journal of Biological Chemistry. 277 (33): 29634–42. doi:10.1074/jbc.M200504200. PMID 12034718.

[pmid24747641-18] Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP, Haaf T, LeGuern E, Depienne C (Jun 2014). "De novo mutations in HCN1 cause early infantile epileptic encephalopathy" (PDF). Nature Genetics. 46 (6): 640–5. doi:10.1038/ng.2952. PMID 24747641. S2CID 861414.

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