HCN1

From Wikipedia, the free encyclopedia
  (Redirected from HCN1 (gene))
Jump to: navigation, search
Hyperpolarization activated cyclic nucleotide-gated potassium channel 1
Protein HCN1 PDB 1q3e.png
PDB rendering based on 1q3e.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols HCN1 ; BCNG-1; BCNG1; EIEE24; HAC-2
External IDs OMIM602780 MGI1096392 HomoloGene32093 IUPHAR: HCN1 ChEMBL: 1795171 GeneCards: HCN1 Gene
RNA expression pattern
PBB GE HCN1 gnf1h06726 at tn.png
More reference expression data
Orthologs
Species Human Mouse
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:
45.26 – 45.7 Mb
Chr 13:
117.6 – 117.98 Mb
PubMed search [1] [2]

Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 is a protein that in humans is encoded by the HCN1 gene.[1][2][3][4]

Function[edit]

Hyperpolarization-activated cation channels of the HCN gene family, such as HCN1, contribute to spontaneous rhythmic activity in both heart and brain.[4]

Interactions[edit]

HCN1 has been shown to interact with HCN2.[5][6]

Epilespy[edit]

De novo mutations in HCN1 cause epilepsy .[7]

See also[edit]

References[edit]

  1. ^ Santoro B, Grant SG, Bartsch D, Kandel ER (Feb 1998). "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". Proc Natl Acad Sci U S A 94 (26): 14815–20. doi:10.1073/pnas.94.26.14815. PMC 25120. PMID 9405696. 
  2. ^ Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA, Tibbs GR (Jul 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. 
  3. ^ Hofmann F, Biel M, Kaupp UB (Dec 2005). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacol Rev 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID 16382102. 
  4. ^ a b "Entrez Gene: HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1". 
  5. ^ 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". J. Biol. Chem. 278 (44): 43781–6. doi:10.1074/jbc.M306958200. PMID 12928435. 
  6. ^ 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". J. Biol. Chem. 277 (33): 29634–42. doi:10.1074/jbc.M200504200. PMID 12034718. 
  7. ^ 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 (2014). "De novo mutations in HCN1 cause early infantile epileptic encephalopathy". Nat. Genet. 46 (6): 640–5. doi:10.1038/ng.2952. PMID 24747641. 

Further reading[edit]

  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
  • Ludwig A, Zong X, Jeglitsch M, et al. (1998). "A family of hyperpolarization-activated mammalian cation channels.". Nature 393 (6685): 587–91. doi:10.1038/31255. PMID 9634236. 
  • Kleiderlein JJ, Nisson PE, Jessee J, et al. (1999). "CCG repeats in cDNAs from human brain.". Hum. Genet. 103 (6): 666–73. doi:10.1007/s004390050889. PMID 9921901. 
  • Ulens C, Tytgat J (2001). "Functional heteromerization of HCN1 and HCN2 pacemaker channels.". J. Biol. Chem. 276 (9): 6069–72. doi:10.1074/jbc.C000738200. PMID 11133998. 
  • Proenza C, Tran N, Angoli D, et al. (2002). "Different roles for the cyclic nucleotide binding domain and amino terminus in assembly and expression of hyperpolarization-activated, cyclic nucleotide-gated channels.". J. Biol. Chem. 277 (33): 29634–42. doi:10.1074/jbc.M200504200. PMID 12034718. 
  • Chaplan SR, Guo HQ, Lee DH, et al. (2003). "Neuronal hyperpolarization-activated pacemaker channels drive neuropathic pain.". J. Neurosci. 23 (4): 1169–78. PMID 12598605. 
  • Lesso H, Li RA (2003). "Helical secondary structure of the external S3-S4 linker of pacemaker (HCN) channels revealed by site-dependent perturbations of activation phenotype.". J. Biol. Chem. 278 (25): 22290–7. doi:10.1074/jbc.M302466200. PMID 12668666. 
  • Bender RA, Soleymani SV, Brewster AL, et al. (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.". J. Neurosci. 23 (17): 6826–36. PMID 12890777. 
  • Much B, Wahl-Schott C, Zong X, et al. (2003). "Role of subunit heteromerization and N-linked glycosylation in the formation of functional hyperpolarization-activated cyclic nucleotide-gated channels.". J. Biol. Chem. 278 (44): 43781–6. doi:10.1074/jbc.M306958200. PMID 12928435. 

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.