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

HCN1 - hyperpolarization activated cyclic nucleotide gated potassium channel 1 Gene

中文名称:超极化激活环核苷酸门控钾通道 1

种属: Homo sapiens

同用名: BCNG1; DEE24; HAC-2; BCNG-1; EIEE24; GEFSP10

基因 ID: 348980 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的膜蛋白是一种超极化激活的阳离子通道,有助于心脏和神经元中的天然起搏器电流。编码的蛋白质可以与其他成孔亚基同二聚化或异二聚化形成钾通道。这个通道可以作为酸味的受体。[RefSeq 提供,2011 年 10 月]

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 基因产物(1)

mRNA Protein Name
NM_021072.4 NP_066550.2 potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cAMP binding IDA
IDA: 通过直接分析推断
28086084 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
26966193 GOA
enables voltage-gated monoatomic cation channel activity IDA
IDA: 通过直接分析推断
28086084 GOA
enables voltage-gated potassium channel activity IMP
IMP: 通过突变表型推断
22748890 GOA
enables voltage-gated sodium channel activity IMP
IMP: 通过突变表型推断
22748890 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to cAMP IDA
IDA: 通过直接分析推断
22748890 GOA
involved in cellular response to cAMP IMP
IMP: 通过突变表型推断
28086084 GOA
involved in potassium ion transmembrane transport IMP
IMP: 通过突变表型推断
22748890 GOA
involved in protein homotetramerization IDA
IDA: 通过直接分析推断
28086084 GOA
involved in regulation of membrane potential IMP
IMP: 通过突变表型推断
22748890 GOA
involved in sodium ion transmembrane transport IMP
IMP: 通过突变表型推断
22748890 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of HCN channel complex IDA
IDA: 通过直接分析推断
28086084 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
22748890 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

HCN1 蛋白结构

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 890 a.a.
蛋白主名 其他名称

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

brain cyclic nucleotide-gated channel 1

HCN1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
HCN1 O60741 SEMA4C Homo sapiens Q9C0C4 37207277
种属内
HCN1 O60741 PYGB Homo sapiens P11216 37207277
种属内
HCN1 O60741 AKAP11 Homo sapiens Q9UKA4 37207277
种属内
HCN1 O60741 HCN4 Homo sapiens Q9Y3Q4 37207277
种属内
HCN1 O60741 HCN4 Homo sapiens Q9Y3Q4 33961781
种属内
HCN1 O60741 PCDHA2 Homo sapiens Q9Y5H9 37207277
种属内
HCN1 O60741 SYNGAP1 Homo sapiens Q96PV0 37207277
种属内
HCN1 O60741 HNRNPA2B1 Homo sapiens P22626 37207277
种属内
HCN1 O60741 PARP1 Homo sapiens P09874 37207277
种属内
HCN1 O60741 INA Homo sapiens Q16352 37207277
种属内
HCN1 O60741 FMR1 Homo sapiens Q06787 37207277
种属内
HCN1 O60741 ARID3B Homo sapiens Q8IVW6 37207277
种属内
HCN1 O60741 SRPK2 Homo sapiens P78362 37207277
种属内
HCN1 O60741 MARK3 Homo sapiens P27448 37207277
种属内
HCN1 O60741 C3 Homo sapiens P01024 33961781
种属内
HCN1 O60741 C3 Homo sapiens P01024 37207277
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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