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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3756

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

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 Set	/	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
Others	KCNH1	NCBI