1. Gene
  2. HCN1 - hyperpolarization activated cyclic nucleotide gated potassium channel 1 Gene

HCN1 - hyperpolarization activated cyclic nucleotide gated potassium channel 1 Gene

Homo sapiens

Also known as BCNG1; DEE24; HAC-2; BCNG-1; EIEE24; GEFSP10

Gene ID: 348980 | Gene type: protein coding

About HCN1

Cytogenetic location: 5p12 Genomic coordinates (GRCh38): 5:45,254,948-45,696,380 (from NCBI)

This gene has 6 transcripts (splice variants), 222 orthologues, 17 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 4.9), heart (RPKM 0.8) and 1 other tissue.

Summary

The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a Potassium Channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]

HCN1 Products(1)

mRNA Protein Name
NM_021072.4 NP_066550.2 potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1

HCN1 Protein Structure

Ion_trans_N

Ion_trans_N: Ion transport protein N-terminal (97 - 173)

Ion_trans

Ion_trans: Ion transport protein (177 - 391)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (494 - 577)

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  • 890 a.a.
Protein Preferred Names Protein Names

potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1

brain cyclic nucleotide-gated channel 1

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 24

DEE24

Epileptic Encephalopathy, Early Infantile, 24

Eiee24

Developmental And Epileptic Encephalopathy, 24

Early Infantile Epileptic Encephalopathy 24

Encephalopathy, Epileptic, Early Infantile, Type 24

Generalized Epilepsy With Febrile Seizures Plus, Type 10

GEFSP10

Gefs+10

Gefs+, Type 10

Generalized Epilepsy With Febrile Seizures Plus 10

Generalised Epilepsy With Febrile Seizures Plus 10

Generalised Epilepsy With Febrile Seizures Plus Type 10

Generalized Epilepsy With Febrile Seizures Plus Type 10

Color Blindness

Color Vision Defect

Blindness Color

Colour Blindness

Colour Vision Deficiency

Color Vision Deficiency

Color Vision Defects

Defective Color Vision

Vision Defect, Color

Color-Vision Disease

Dyschromatopsia

Febrile Seizures

Febrile Seizure

Febrile Convulsions

Seizures Febrile

Ohtahara Syndrome
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus HCN1 VGNC VGNC:102223
Macaca mulatta HCN1 VGNC VGNC:110459
Bos taurus HCN1 VGNC VGNC:29776
Canis familiaris HCN1 VGNC VGNC:41620
Rattus norvegicus HCN1 RGD RGD:620688
Mus musculus HCN1 MGD MGI:1096392