HCN1
entrez
348980
canonical
uniprot
O60741
canonical
ensembl
ENSG00000164588
resolver
ensp
ENSP00000307342
resolver
enst
ENST00000303230
resolver
genesymbol
HCN1
resolver
genesymbol_syn
BCNG1
resolver
hgnc
HGNC:4845
resolver
uniprot
Q86WJ6
resolver
uniprot_entry
HCN1_HUMAN
resolver
uniprot_entry
Q86WJ6_HUMAN
resolver
activity_regulation
ACTIVITY REGULATION: Activated by cAMP, and at 10-100 times higher concentrations, also by cGMP. cAMP binding promotes tetramerization and formation of an active channel. Compared to other family members, cAMP has less stimulatory effect on HCN1 because part of the molecules already contain bound cAMP and form homotetramers when cAMP levels are low, this inherent tetramerization in HCN1 results in a weaker response to increased cAMP. Inhibited by Cs(1+), zatebradine, capsazepine and ZD7288. {ECO:0000269|PubMed:15351778, ECO:0000269|PubMed:28086084}.
uniprot
proteins
amino_acid_sequence
MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGGEEPAGGFEDAEGPRRQYGFMQRQFTSMLQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNVASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVEKGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFNLIGMMLLLCHWDGCLQFLVPLLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIGYGAQAPVSMSDLWITMLSMIVGATCYAMFVGHATALIQSLDSSRRQYQEKYKQVEQYMSFHKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANADPNFVTAMLSKLRFEVFQPGDYIIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGEICLLTKGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSILLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPINYPQMTTLNSTSSTTTPTSRMRTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYTTAVCSPPVQSPLAARTFHYASPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLTREVRPLSASQPSLPHEVSTLISRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVTLFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPDAEKPRFASNL
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871]: A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals. {ECO:0000269|PubMed:24747641, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:30351409}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482]: An autosomal dominant neurologic disorder with incomplete penetrance, characterized by variable types of seizures including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Some patients have normal neurologic development. Others have mild-to-moderate intellectual disability or autism spectrum disorder. {ECO:0000269|PubMed:29936235, ECO:0000269|PubMed:30351409}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Hyperpolarization-activated ion channel that are permeable to sodium and potassium ions (PubMed:15351778, PubMed:28086084). Displays lower selectivity for K(+) over Na(+) ions (PubMed:28086084). Contributes to the native pacemaker currents in heart (If) and in the generation of the I(h) current which controls neuron excitability (PubMed:29936235, PubMed:30351409). Participates in cerebellar mechanisms of motor learning (By similarity). May mediate responses to sour stimuli (By similarity). {ECO:0000250|UniProtKB:O88704, ECO:0000269|PubMed:15351778, ECO:0000269|PubMed:28086084, ECO:0000269|PubMed:29936235, ECO:0000269|PubMed:30351409}.
uniprot
proteins
mass_dalton
98796
uniprot
proteins
protein_family
Potassium channel HCN family
uniprot
proteins
pubmed
15351778
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
24747641
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
28086084
uniprot
proteins
pubmed
29936235
uniprot
proteins
pubmed
30351409
uniprot
proteins
pubmed
31787376
uniprot
proteins
pubmed
34621433
uniprot
proteins
pubmed
9630217
uniprot
proteins
sequence_length
890
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15351778, ECO:0000269|PubMed:28086084, ECO:0000269|PubMed:30351409}; Multi-pass membrane protein {ECO:0000269|PubMed:28086084, ECO:0000269|PubMed:31787376}.
uniprot
proteins
transmembrane_region
TRANSMEM 143..164; /note="Helical; Name=Segment S1"; /evidence="ECO:0000269|PubMed:28086084, ECO:0000269|PubMed:31787376, ECO:0007744|PDB:5U6O, ECO:0007744|PDB:5U6P, ECO:0007744|PDB:6UQF, ECO:0007744|PDB:6UQG"; TRANSMEM 174..194; /note="Helical; Name=Segment S2"; /evidence="ECO:0000269|PubMed:28086084, ECO:0000269|PubMed:31787376, ECO:0007744|PDB:5U6O, ECO:0007744|PDB:5U6P, ECO:0007744|PDB:6UQF, ECO:0007744|PDB:6UQG"; TRANSMEM 216..236; /note="Helical; Name=Segment S3"; /evidence="ECO:0000269|PubMed:28086084, ECO:0000269|PubMed:31787376, ECO:0007744|PDB:5U6O, ECO:0007744|PDB:5U6P, ECO:0007744|PDB:6UQF, ECO:0007744|PDB:6UQG"; TRANSMEM 261..281; /note="Helical; Voltage-sensor; Name=Segment S4"; /evidence="ECO:0000269|PubMed:28086084, ECO:0000269|PubMed:31787376, ECO:0007744|PDB:5U6O, ECO:0007744|PDB:5U6P, ECO:0007744|PDB:6UQF, ECO:0007744|PDB:6UQG"; TRANSMEM 296..318; /note="Helical; Name=Segment S5"; /evidence="ECO:0007744|PDB:5U6O, ECO:0007744|PDB:5U6P, ECO:0007744|PDB:6UQF, ECO:0007744|PDB:6UQG"; TRANSMEM 372..392; /note="Helical; Name=Segment S6"; /evidence="ECO:0000269|PubMed:28086084, ECO:0000269|PubMed:31787376, ECO:0007744|PDB:5U6O, ECO:0007744|PDB:5U6P, ECO:0007744|PDB:6UQF, ECO:0007744|PDB:6UQG
uniprot
proteins