HCN1 - hyperpolarization activated cyclic nucleotide gated potassium channel 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 348980

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

HCN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811250	HCN1 Antibody	WB, IHC-P	Human, Mouse

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
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-18940	Cilobradine		/	Phase 2
HY-W040555	Norquetiapine dihydrochloride		99.91%	Phase 1

Pre-clinical Phase

Bioactive Molecules (17)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-160505	RO-275	Inhibitor	99.95%	Unkown
HY-13422A	Zatebradine	Antagonist	99.27%	Unkown
HY-13422	Zatebradine hydrochloride	Antagonist	99.87%	Unkown
HY-W052508	Norquetiapine		99.95%	Unkown
HY-163455	pan-HCN-IN-1	Inhibitor	99.84%	Unkown
HY-108574	CP 339818 hydrochloride	Inhibitor	99.61%	Unkown
HY-W052508S	Norquetiapine-d8		/	Unkown
HY-114540	CP-339818	Inhibitor	/	Unkown
HY-182459	Org 34167 (freebase)	Modulator	/	Unkown
HY-186057	HCN2-IN-5	Inhibitor	/	Unkown
HY-186059	HCN2 modulator-4	Inhibitor	/	Unkown
HY-186059A	HCN2 modulator-5	Inhibitor	/	Unkown
HY-186060	HCN2 modulator-6	Inhibitor	/	Unkown
HY-186061A	HCN2 modulator-8	Inhibitor	/	Unkown
HY-RS06046	HCN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22198	Hcn1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28720	Hcn1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	HCN1	NCBI