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

Homo sapiens

Also known as EAG; EAG1; ZLS1; hEAG; TMBTS; h-eag; hEAG1; Kv10.1

Gene ID: 3756 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	11943152	GOA
enables phosphatidylinositol bisphosphate binding	IDA IDA: Inferred from direct assay	27005320	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10880439	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to calcium ion	IMP IMP: Inferred from mutant phenotype	27005320	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	22732247	GOA
involved in potassium ion transport	IDA IDA: Inferred from direct assay	11943152	GOA
involved in regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	23881642	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in early endosome membrane	IDA IDA: Inferred from direct assay	22841712	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	27005320	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	22732247	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	11943152	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

KCNH1 Protein Structure

PAS_9

Ion_trans

cNMP_binding

0
200
400
600
800
989 a.a.

Protein Preferred Names

Protein Names

potassium voltage-gated channel subfamily H member 1

EAG channel 1

KCNH1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KCNH1	O95259	SDCBP	Homo sapiens	O00560	Y2H Prey Pooling	25416956
Intra	KCNH1	O95259	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
Intra	KCNH1	O95259	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	25416956
Intra	KCNH1	O95259	FASTKD5	Homo sapiens	Q7L8L6	Validated Y2H	25416956
Intra	KCNH1	O95259	FASTKD5	Homo sapiens	Q7L8L6	Y2H Prey Pooling	25416956
Cross	KCNH1	O95259	S100B	Bos taurus	P02638	Competition Binding	20708613

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07125	KCNH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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