HCN1

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
HCN1
5u6p.jpg
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHCN1, BCNG-1, BCNG1, EIEE24, HAC-2, hyperpolarization activated cyclic nucleotide gated potassium channel 1, GEFSP10
External IDsOMIM: 602780 MGI: 1096392 HomoloGene: 32093 GeneCards: HCN1
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for HCN1
Genomic location for HCN1
Band5p12Start45,254,948 bp[1]
End45,696,498 bp[1]
RNA expression pattern
PBB GE HCN1 gnf1h06726 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021072

NM_010408

RefSeq (protein)

NP_066550

NP_034538

Location (UCSC)Chr 5: 45.25 – 45.7 Mbn/a
PubMed search[2][3]
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.[4][5][6][7]

Function[edit]

Hyperpolarization-activated cation channels of the HCN gene family, such as HCN1, contribute to spontaneous rhythmic activity in both heart and brain.[7]

Tissue distribution[edit]

HCN1 channel expression is found in the sinoatrial node,[8][9] the neocortex, hippocampus, cerebellar cortex, dorsal root ganglion, trigeminal ganglion and brainstem.[10][11][12][13][14]

Interactions[edit]

HCN1 has been shown to interact with HCN2.[15][16]

Epilepsy[edit]

De novo mutations in HCN1 cause epilepsy.[17]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164588 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ 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. doi:10.1073/pnas.94.26.14815. PMC 25120. PMID 9405696.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1".
  8. ^ 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.
  9. ^ 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.
  10. ^ 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.
  11. ^ 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.
  12. ^ 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.
  13. ^ 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.
  14. ^ 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. doi:10.1073/pnas.94.26.14815. PMC 25120. PMID 9405696.
  15. ^ 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.
  16. ^ 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.
  17. ^ 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.

Further reading[edit]

External links[edit]

  • HCN1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
  • Overview of all the structural information available in the PDB for UniProt: O60741 (Human Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1) at the PDBe-KB.
  • Overview of all the structural information available in the PDB for UniProt: O88704 (Mouse Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1) at the PDBe-KB.

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