HCN1

HCN1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHCN1, BCNG-1, BCNG1, EIEE24, HAC-2, hyperpolarization activated cyclic nucleotide gated potassium channel 1
External IDsMGI: 1096392 HomoloGene: 32093 GeneCards: HCN1
Gene location (Human)
Chr.Chromosome 5 (human)[1]
BandNo data availableStart45,254,950 bp[1]
End45,696,498 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

348980

15165

Ensembl

ENSG00000164588

ENSMUSG00000021730

UniProt

O60741

O88704

RefSeq (mRNA)

NM_021072

NM_010408

RefSeq (protein)

NP_066550

NP_034538

Location (UCSC)Chr 5: 45.25 – 45.7 MbChr 13: 117.6 – 117.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 is a protein that in humans is encoded by the HCN1 gene.[5][6][7][8]

Function

Hyperpolarization-activated cation channels of the HCN gene family, such as HCN1, contribute to spontaneous rhythmic activity in both heart and brain.[8]

Tissue distribution

HCN1 channel expression is found in the sinoatrial node,[9][10] the neocortex, hippocampus, cerebellar cortex, dorsal root ganglion, trigeminal ganglion and brainstem.[11][12][13][14][15]

Interactions

HCN1 has been shown to interact with HCN2.[16][17]

Epilepsy

De novo mutations in HCN1 cause epilepsy .[18]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000164588 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021730 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. PMC 25120 Freely accessible. PMID 9405696. doi:10.1073/pnas.94.26.14815.
  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. PMID 9630217. doi:10.1016/S0092-8674(00)81434-8.
  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. PMID 16382102. doi:10.1124/pr.57.4.8.
  8. 1 2 "Entrez Gene: HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1".
  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. PMC 1665484 Freely accessible. PMID 15498808. doi:10.1113/jphysiol.2004.074047.
  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. PMID 10400919. doi:10.1161/01.RES.85.1.e1.
  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. PMID 12389030. doi:10.1038/nn962.
  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. PMID 16503331. doi:10.1016/j.brainres.2006.01.019.
  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. PMID 10494850. doi:10.1515/BC.1999.121.
  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. PMID 17645513. doi:10.1111/j.1365-2591.2007.01297.x.
  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. PMC 25120 Freely accessible. PMID 9405696. doi:10.1073/pnas.94.26.14815.
  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. PMID 12928435. doi:10.1074/jbc.M306958200.
  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. PMID 12034718. doi:10.1074/jbc.M200504200.
  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". Nature Genetics. 46 (6): 640–5. PMID 24747641. doi:10.1038/ng.2952.

Further reading

  • Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. PMID 8889548. doi:10.1101/gr.6.9.791. 
  • 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. PMID 9634236. doi:10.1038/31255. 
  • 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. PMID 9921901. doi:10.1007/s004390050889. 
  • Ulens C, Tytgat J (Mar 2001). "Functional heteromerization of HCN1 and HCN2 pacemaker channels". The Journal of Biological Chemistry. 276 (9): 6069–72. PMID 11133998. doi:10.1074/jbc.C000738200. 
  • 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. PMID 12034718. doi:10.1074/jbc.M200504200. 
  • 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. 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. PMID 12668666. doi:10.1074/jbc.M302466200. 
  • 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. 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. PMID 12928435. doi:10.1074/jbc.M306958200. 
  • 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. PMID 24184323. doi:10.1016/j.pneurobio.2013.10.001. 
  • Wahl-Schott C, Fenske S, Biel M (Apr 2014). "HCN channels: new roles in sinoatrial node function". Current Opinion in Pharmacology. 15: 83–90. PMID 24441197. doi:10.1016/j.coph.2013.12.005. 

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