T3DB: Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1

Name	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
Synonyms	BCNG-1 BCNG1 Brain cyclic nucleotide-gated channel 1
Gene Name	HCN1
Organism	Human
Amino acid sequence	>lcl\|BSEQ0008817\|Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFK VDGGGGGGGGGGGGEEPAGGFEDAEGPRRQYGFMQRQFTSMLQPGVNKFSLRMFGSQKAV EKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNV ASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVE KGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFN LIGMMLLLCHWDGCLQFLVPLLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIG YGAQAPVSMSDLWITMLSMIVGATCYAMFVGHATALIQSLDSSRRQYQEKYKQVEQYMSF HKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANAD PNFVTAMLSKLRFEVFQPGDYIIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGE ICLLTKGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSI LLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPINYPQMTTLNSTSSTTTPTSRM RTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYTTAVCSPPVQSPLAARTFHYA SPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLT REVRPLSASQPSLPHEVSTLISRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVT LFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPDAEKPRFASNL
Number of residues	890
Molecular Weight	98795.285
Theoretical pI	Not Available
GO Classification	Functions cAMP binding voltage-gated potassium channel activity intracellular cAMP activated cation channel activity voltage-gated sodium channel activity potassium channel activity Processes sodium ion transmembrane transport potassium ion transmembrane transport regulation of membrane potential cellular response to cAMP retinal cone cell development apical protein localization potassium ion transport synaptic transmission Components integral component of plasma membrane dendrite axon plasma membrane integral component of membrane
General Function	Voltage-gated sodium channel activity
Specific Function	Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli.
Pfam Domain Function	Ion_trans (PF00520 ) cNMP_binding (PF00027 ) Ion_trans_N (PF08412 )
Transmembrane Regions	147-167 174-194 220-240 249-269 301-321 372-392
GenBank Protein ID	Not Available
UniProtKB ID	O60741
UniProtKB Entry Name	HCN1_HUMAN
Cellular Location	Cell membrane
Gene sequence	>lcl\|BSEQ0017604\|Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 (HCN1) ATGGAAGGAGGCGGCAAGCCCAACTCTTCGTCTAACAGCCGGGACGATGGCAACAGCGTC TTCCCCGCCAAGGCGTCCGCGACGGGCGCGGGGCCGGCCGCGGCCGAGAAGCGCCTGGGC ACCCCGCCGGGGGGCGGCGGGGCCGGCGCGAAGGAGCACGGCAACTCCGTGTGCTTCAAG GTGGACGGCGGTGGCGGCGGTGGCGGCGGCGGCGGCGGCGGCGAGGAGCCGGCGGGGGGC TTCGAAGACGCCGAGGGGCCCCGGCGGCAGTACGGCTTCATGCAGAGGCAGTTCACCTCC ATGCTGCAGCCCGGGGTCAACAAATTCTCCCTCCGCATGTTTGGGAGCCAGAAGGCGGTG GAAAAGGAGCAGGAAAGGGTTAAAACTGCAGGCTTCTGGATTATCCACCCTTACAGTGAT TTCAGGTTTTACTGGGATTTAATAATGCTTATAATGATGGTTGGAAATCTAGTCATCATA CCAGTTGGAATCACATTCTTTACAGAGCAAACAACAACACCATGGATTATTTTCAATGTG GCATCAGATACAGTTTTCCTATTGGACCTGATCATGAATTTTAGGACTGGGACTGTCAAT GAAGACAGTTCTGAAATCATCCTGGACCCCAAAGTGATCAAGATGAATTATTTAAAAAGC TGGTTTGTGGTTGACTTCATCTCATCCATCCCAGTGGATTATATCTTTCTTATTGTAGAA AAAGGAATGGATTCTGAAGTTTACAAGACAGCCAGGGCACTTCGCATTGTGAGGTTTACA AAAATTCTCAGTCTCTTGCGTTTATTACGACTTTCAAGGTTAATTAGATACATACATCAA TGGGAAGAGATATTCCACATGACATATGATCTCGCCAGTGCAGTGGTGAGAATTTTTAAT CTCATCGGCATGATGCTGCTCCTGTGCCACTGGGATGGTTGTCTTCAGTTCTTAGTACCA CTACTGCAGGACTTCCCACCAGATTGCTGGGTGTCTTTAAATGAAATGGTTAATGATTCT TGGGGAAAGCAGTATTCATACGCACTCTTCAAAGCTATGAGTCACATGCTGTGCATTGGG TATGGAGCCCAAGCCCCAGTCAGCATGTCTGACCTCTGGATTACCATGCTGAGCATGATC GTCGGGGCCACCTGCTATGCCATGTTTGTCGGCCATGCCACCGCTTTAATCCAGTCTCTG GATTCTTCGAGGCGGCAGTATCAAGAGAAGTATAAGCAAGTGGAACAATACATGTCATTC CATAAGTTACCAGCTGATATGCGTCAGAAGATACATGATTACTATGAACACAGATACCAA GGCAAAATCTTTGATGAGGAAAATATTCTCAATGAACTCAATGATCCTCTGAGAGAGGAG ATAGTCAACTTCAACTGTCGGAAACTGGTGGCTACAATGCCTTTATTTGCTAATGCGGAT CCTAATTTTGTGACTGCCATGCTGAGCAAGTTGAGATTTGAGGTGTTTCAACCTGGAGAT TATATCATACGAGAAGGAGCCGTGGGTAAAAAAATGTATTTCATTCAACACGGTGTTGCT GGTGTCATTACAAAATCCAGTAAAGAAATGAAGCTGACAGATGGCTCTTACTTTGGAGAG ATTTGCCTGCTGACCAAAGGACGTCGTACTGCCAGTGTTCGAGCTGATACATATTGTCGT CTTTACTCACTTTCCGTGGACAATTTCAACGAGGTCCTGGAGGAATATCCAATGATGAGG AGAGCCTTTGAGACAGTTGCCATTGACCGACTAGATCGAATAGGAAAGAAAAATTCAATT CTTCTGCAAAAGTTCCAGAAGGATCTGAACACTGGTGTTTTCAACAATCAGGAGAACGAA ATCCTCAAGCAGATTGTGAAACATGACAGGGAGATGGTGCAGGCAATCGCTCCCATCAAT TATCCTCAAATGACAACCCTGAATTCCACATCGTCTACTACGACCCCGACCTCCCGCATG AGGACACAATCTCCACCGGTGTACACAGCGACCAGCCTGTCTCACAGCAACCTGCACTCC CCCAGTCCCAGCACACAGACCCCCCAGCCATCAGCCATCCTGTCACCCTGCTCCTACACC ACCGCGGTCTGCAGCCCTCCTGTACAGAGCCCTCTGGCCGCTCGAACTTTCCACTATGCC TCCCCCACCGCCTCCCAGCTGTCACTCATGCAACAGCAGCCGCAGCAGCAGGTACAGCAG TCCCAGCCGCCGCAGACTCAGCCACAGCAGCCGTCCCCGCAGCCACAGACACCTGGCAGC TCCACGCCGAAAAATGAAGTGCACAAGAGCACGCAGGCGCTTCACAACACCAACCTGACC CGGGAAGTCAGGCCACTCTCCGCCTCGCAGCCCTCGCTGCCCCATGAGGTGTCCACTCTG ATTTCCAGACCTCATCCCACTGTGGGCGAGTCCCTGGCCTCCATCCCTCAACCCGTGACG GCGGTCCCCGGAACGGGCCTTCAGGCAGGGGGCAGGAGCACTGTCCCGCAGCGCGTCACC CTCTTCCGACAGATGTCGTCGGGAGCCATCCCCCCGAACCGAGGAGTCCCTCCAGCACCC CCTCCACCAGCAGCTGCTCTTCCAAGAGAATCTTCCTCAGTCTTAAACACAGACCCAGAC GCAGAAAAGCCACGATTTGCTTCAAATTTATGA
GenBank Gene ID	Not Available
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:4845
Chromosome Location	5
Locus	Not Available
References	Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. 15372022 Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA, Tibbs GR: Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain. Cell. 1998 May 29;93(5):717-29. 9630217 Gill CH, Randall A, Bates SA, Hill K, Owen D, Larkman PM, Cairns W, Yusaf SP, Murdock PR, Strijbos PJ, Powell AJ, Benham CD, Davies CH: Characterization of the human HCN1 channel and its inhibition by capsazepine. Br J Pharmacol. 2004 Oct;143(3):411-21. Epub 2004 Sep 6. 15351778 Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cances 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: De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20. 24747641