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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cAMP binding	IDA IDA: Inferred from direct assay	28086084	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26966193	GOA
enables voltage-gated monoatomic cation channel activity	IDA IDA: Inferred from direct assay	28086084	GOA
enables voltage-gated potassium channel activity	IMP IMP: Inferred from mutant phenotype	22748890	GOA
enables voltage-gated sodium channel activity	IMP IMP: Inferred from mutant phenotype	22748890	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to cAMP	IDA IDA: Inferred from direct assay	22748890	GOA
involved in cellular response to cAMP	IMP IMP: Inferred from mutant phenotype	28086084	GOA
involved in potassium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	22748890	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	28086084	GOA
involved in regulation of membrane potential	IMP IMP: Inferred from mutant phenotype	22748890	GOA
involved in sodium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	22748890	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of HCN channel complex	IDA IDA: Inferred from direct assay	28086084	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	22748890	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HCN1 Protein Structure

Ion_trans_N

Ion_trans

cNMP_binding

0
200
400
600
800
890 a.a.

Protein Preferred Names

Protein Names

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

brain cyclic nucleotide-gated channel 1

HCN1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HCN1	O60741	SEMA4C	Homo sapiens	Q9C0C4	Anti Bait CoIP	37207277
Intra	HCN1	O60741	PYGB	Homo sapiens	P11216	Anti Bait CoIP	37207277
Intra	HCN1	O60741	AKAP11	Homo sapiens	Q9UKA4	Anti Bait CoIP	37207277
Intra	HCN1	O60741	HCN4	Homo sapiens	Q9Y3Q4	Anti Bait CoIP	37207277
Intra	HCN1	O60741	HCN4	Homo sapiens	Q9Y3Q4	Anti Tag CoIP	33961781
Intra	HCN1	O60741	PCDHA2	Homo sapiens	Q9Y5H9	Anti Bait CoIP	37207277
Intra	HCN1	O60741	SYNGAP1	Homo sapiens	Q96PV0	Anti Bait CoIP	37207277
Intra	HCN1	O60741	HNRNPA2B1	Homo sapiens	P22626	Anti Bait CoIP	37207277
Intra	HCN1	O60741	PARP1	Homo sapiens	P09874	Anti Bait CoIP	37207277
Intra	HCN1	O60741	INA	Homo sapiens	Q16352	Anti Bait CoIP	37207277
Intra	HCN1	O60741	FMR1	Homo sapiens	Q06787	Anti Bait CoIP	37207277
Intra	HCN1	O60741	ARID3B	Homo sapiens	Q8IVW6	Anti Bait CoIP	37207277
Intra	HCN1	O60741	SRPK2	Homo sapiens	P78362	Anti Bait CoIP	37207277
Intra	HCN1	O60741	MARK3	Homo sapiens	P27448	Anti Bait CoIP	37207277
Intra	HCN1	O60741	C3	Homo sapiens	P01024	Anti Tag CoIP	33961781
Intra	HCN1	O60741	C3	Homo sapiens	P01024	Anti Bait CoIP	37207277

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-18940	Cilobradine		/	Phase 1

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13422	Zatebradine hydrochloride	Antagonist	99.06%	Unkown
HY-13422A	Zatebradine	Antagonist	99.27%	Unkown
HY-160505	RO-275	Inhibitor	≥99.0%	Unkown
HY-163455	pan-HCN-IN-1	Inhibitor	/	Unkown
HY-RS06046	HCN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

Name
Email *

	Sorry, but the email address you supplied was invalid.