KCNH1 - potassium voltage-gated channel subfamily H member 1 Gene

中文名称：钾电压门控通道亚家族 H 成员 1

种属: Homo sapiens

同用名: EAG; EAG1; ZLS1; hEAG; TMBTS; h-eag; hEAG1; Kv10.1

基因 ID: 3756 | 基因类型: protein coding

关于 KCNH1

Cytogenetic location: 1q32.2 Genomic coordinates (GRCh38): 1:210,678,314-211,134,148 (from NCBI)

This gene has 19 transcripts (splice variants), 270 orthologues, 17 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 4.3), adrenal (RPKM 0.4) and 3 other tissues.

功能概要

从功能和结构的角度来看，电压门控钾 (Kv) 通道代表了最复杂的一类电压门控离子通道。它们的不同功能包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质转运、平滑肌收缩和细胞体积。该基因编码电压门控钾通道 H 亚科成员。该成员是电压门控非失活延迟整流钾通道的成孔 (α) 亚基。它在成肌细胞分化开始时被激活。该基因在大脑和成肌细胞中高度表达。该基因的过度表达可能赋予癌细胞生长优势并有利于肿瘤细胞增殖。该基因的可变剪接导致编码不同亚型的两个转录变体。[RefSeq 提供，2008 年 7 月]

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, Insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the Potassium Channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier Potassium Channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to Cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

KCNH1 基因产物(2)

mRNA	Protein	Name
NM_002238.4	NP_002229.1	potassium voltage-gated channel subfamily H member 1 isoform 2
NM_172362.3	NP_758872.1	potassium voltage-gated channel subfamily H member 1 isoform 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 delayed rectifier potassium channel activity	IDA IDA: 通过直接分析推断	11943152	GOA
enables phosphatidylinositol bisphosphate binding	IDA IDA: 通过直接分析推断	27005320	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10880439	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to calcium ion	IMP IMP: 通过突变表型推断	27005320	GOA
involved in potassium ion transmembrane transport	IDA IDA: 通过直接分析推断	22732247	GOA
involved in potassium ion transport	IDA IDA: 通过直接分析推断	11943152	GOA
involved in regulation of cell population proliferation	IMP IMP: 通过突变表型推断	23881642	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in early endosome membrane	IDA IDA: 通过直接分析推断	22841712	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	27005320	GOA
located in plasma membrane	IMP IMP: 通过突变表型推断	22732247	GOA
part of voltage-gated potassium channel complex	IDA IDA: 通过直接分析推断	11943152	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

KCNH1 蛋白结构

PAS_9

Ion_trans

cNMP_binding

0
200
400
600
800
989 a.a.

蛋白主名

其他名称

potassium voltage-gated channel subfamily H member 1

EAG channel 1

KCNH1 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	KCNH1	O95259	SDCBP	Homo sapiens	O00560	Y2H Prey Pooling	25416956
种属内	KCNH1	O95259	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
种属内	KCNH1	O95259	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	25416956
种属内	KCNH1	O95259	FASTKD5	Homo sapiens	Q7L8L6	Validated Y2H	25416956
种属内	KCNH1	O95259	FASTKD5	Homo sapiens	Q7L8L6	Y2H Prey Pooling	25416956
种属间	KCNH1	O95259	S100B	Bos taurus	P02638	Competition Binding	20708613

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

Temple-Baraitser Syndrome

TMBTS	Severe Intellectual Disability-Aplasia/Hypoplasia Of Thumb And Hallux Syndrome
Mental Retardation, Severe, And Absent Nails Of Hallux And Pollex	Tbs

Zimmermann-Laband Syndrome 1

Laband Syndrome	ZLS1
Fibromatosis, Gingival, With Abnormal Fingers, Fingernails, Nose, And Ears, And Splenomegaly	Zimmerman Laband Syndrome
Fibromatosis Gingival, Hepatosplenomegaly Other Anomalies	Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose And Ears, And Splenomegaly
Zls	Zimmerman-Laband Syndrome
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose And Ears And Splenomegaly	Zimmermann Laband Syndrome

Zimmermann-Laband Syndrome

Gingival Fibromatosis-Hepatosplenomegaly-Other Anomalies Syndrome	Laband Syndrome
Zimmerman Laband Syndrome

Bronchus Cancer

Malignant Neoplasm Of Bronchus And Lung	Bronchus Carcinoma
Bronchogenic Carcinoma	Malignant Neoplasm Of Bronchus Or Lung
Bc - Bronchogenic Carcinoma	Carcinoma, Bronchogenic
Bronchial Neoplasms

Clark-Baraitser Syndrome

CLABARS	Baraitser Syndrome
Autosomal Dominant Intellectual Disability 49	Mental Retardation, Autosomal Dominant 49, Formerly
Mrd49, Formerly	Intellectual Developmental Disorder, Autosomal Dominant 49
Autosomal Dominant Mental Retardation 49	Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features
Mrd49	Progeria Short Stature Pigmented Nevi

Hypertrichosis

Spermatogenic Failure 11

SPGF11

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Diamond-Blackfan Anemia 3

DBA3	Anemia, Diamond-Blackfan, 3
Rps24-Related Diamond-Blackfan Anemia	Anemia Diamond-Blackfan 3
Anemia, Diamond-Blackfan, Type 3

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

Progressive Familial Heart Block, Type Ii

PFHB2	Pfhbii
Progressive Familial Heart Block Type Ii	Progressive Familial Heart Block Type 2
Heart Block Progressive Familial Type 2

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation	Autosomal Dominant Non-Syndromic Mental Retardation
Autosomal Dominant Non-Syndromic Intellectual Disability	Mental Retardation, Autosomal Dominant

Cardiomyopathy, Dilated, 1d

Dilated Cardiomyopathy 1d	CMD1D
Left Ventricular Noncompaction 6, Included	Lvnc6, Included
Left Ventricular Noncompaction 6	Cardiomyopathy, Dilated 1d

Gingival Hypertrophy

Hypertrophy Of Gingivae

Cantu Syndrome

Hypertrichotic Osteochondrodysplasia	Hypertrichotic Osteochondrodysplasia Cantu Type
Cantú Syndrome	Craniofaciocardioskeletal Syndrome
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome	Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum
Congenital Hypertrichosis-Coarse Facial Features Spectrum	HTOCD
Osteochondrodysplasia, Hypertrichotic

Long Qt Syndrome 2

LQT2	Long Qt Syndrome, Acquired, Reduced Susceptibility To
Long Qt Syndrome 1/2	Long Qt Syndrome 2/3
Long Qt Syndrome 2/5	Long Qt Syndrome 2, Acquired, Susceptibility To
Long Qt Syndrome, Acquired, Reduced	Long Qt Syndrome Type 2
Long Qt Syndrome 2/9	Lqt1/2
Lqt2/3	Lqt2/5
Lqt2/9	Susceptibility To Acquired Long Qt Syndrome 2
Long Qt Syndrome-2	Qt Syndrome, Long, Type 2
Long Qt Syndrome 1-2	Long Qt Syndrome 2-3
Long Qt Syndrome 2-5	Long Qt Syndrome 9

Gingival Fibromatosis

Hereditary Gingival Fibromatosis	Hereditary Gingival Hyperplasia
Autosomal Dominant Gingival Fibromatosis	Autosomal Dominant Gingival Hyperplasia
Fibromatosis, Gingival, Hereditary	Fibromatosis, Gingival

Long Qt Syndrome 1

Romano-Ward Syndrome	LQT1
Ward-Romano Syndrome	Rws
Ventricular Fibrillation With Prolonged Qt Interval	Wrs
Long Qt Syndrome 1, Acquired, Susceptibility To	Long Qt Syndrome 1, Acquired
Romano-Ward Long Qt Syndrome	Long Qt Syndrome Type 1
Long Qt Syndrome-1	Acquired Susceptibility To Long Qt Syndrome 1
Qt Syndrome, Long, Type 1

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07125	KCNH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	KCNH1	MGD	MGI:1341721
Bos taurus	KCNH1	VGNC	VGNC:50204
Rattus norvegicus	KCNH1	RGD	RGD:68398
Canis familiaris	KCNH1	VGNC	VGNC:53616
Macaca mulatta	KCNH1	VGNC	VGNC:97779

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