Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
We will be switching to the new UniProt website soon. Please explore and share your feedback. Take me to the new website.

UniProtKB - O95259 (KCNH1_HUMAN)

Entry version 202 (23 Feb 2022)
Sequence version 1 (01 May 1999)
Previous versions | rss
Add a publicationFeedback
Protein

Potassium voltage-gated channel subfamily H member 1

Gene

KCNH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:9738473, PubMed:11943152, PubMed:10880439, PubMed:22732247, PubMed:25556795, PubMed:27325704, PubMed:27005320, PubMed:27618660).

Channel properties are modulated by subunit assembly (PubMed:11943152).

Mediates IK(NI) current in myoblasts (PubMed:9738473).

Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed:23881642).

9 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Channel activity is inhibited by interaction with Ca2+-bound calmodulin (PubMed:10880439, PubMed:27325704, PubMed:27005320, PubMed:27618660). Interaction of a single pore-forming alpha subunit with a calmodulin chain is sufficient to promote channel closure (PubMed:10880439). Channel activity is not regulated by cyclic nucleotides (By similarity). Channel activity is inhibited by binding intracellular phosphatidylinositol-3,5-bisphosphate and phosphatidylinositol-4,5-bisphosphate (PIP2), but is not inhibited by phosphatidylinositol 4-phosphate (PubMed:27005320). Inhibited by the spider kappa-theraphotoxin-Aa1a and mu/kappa-theraphotoxin-Ap1a (PubMed:30149017).By similarity4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalmodulin-binding, Ion channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandLipid-binding, Potassium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O95259

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1296072, Voltage gated Potassium channels

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O95259

Protein family/group databases

Transport Classification Database

More...TCDBi		1.I.1.1.3, the nuclear pore complex (npc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily H member 1
Alternative name(s):
Ether-a-go-go potassium channel 11 Publication
Short name:
EAG channel 12 Publications
Short name:
h-eag
Short name:
hEAG12 Publications
Voltage-gated potassium channel subunit Kv10.1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KCNH1
Synonyms:EAG1 Publication, EAG12 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6250, KCNH1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603305, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O95259

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000143473

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 220CytoplasmicBy similarityAdd BLAST220
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei221 – 241Helical; Name=Segment S1By similarityAdd BLAST21
Topological domaini242 – 248ExtracellularBy similarity7
Transmembranei249 – 269Helical; Name=Segment S2By similarityAdd BLAST21
Topological domaini270 – 290CytoplasmicBy similarityAdd BLAST21
Transmembranei291 – 309Helical; Name=Segment S3By similarityAdd BLAST19
Topological domaini310 – 345ExtracellularBy similarityAdd BLAST36
Transmembranei346 – 368Helical; Voltage-sensor; Name=Segment S4By similarityAdd BLAST23
Topological domaini369 – 377CytoplasmicBy similarity9
Transmembranei378 – 399Helical; Name=Segment S5By similarityAdd BLAST22
Topological domaini400 – 448ExtracellularBy similarityAdd BLAST49
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei449 – 470Pore-forming; Name=Segment H5By similarityAdd BLAST22
Topological domaini471 – 477ExtracellularBy similarity7
Transmembranei478 – 498Helical; Name=Segment S6By similarityAdd BLAST21
Topological domaini499 – 989CytoplasmicBy similarityAdd BLAST491

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Endosome, Membrane, Nucleus, Postsynaptic cell membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Temple-Baraitser syndrome (TMBTS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_072612217K → N in TMBTS; gain-of-function mutation resulting in a decreased threshold of channel activation and slower deactivation compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs727502822EnsemblClinVar.1
Natural variantiVAR_072613489L → F in TMBTS; gain-of-function mutation resulting in a decreased threshold of channel activation and slower deactivation compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs1553345948EnsemblClinVar.1
Natural variantiVAR_072614494I → V in TMBTS and ZLS1; gain-of-function effect; resulting in a decreased threshold of channel activation and slower deactivation. 2 PublicationsCorresponds to variant dbSNP:rs727502819EnsemblClinVar.1
Natural variantiVAR_072615503Q → R in TMBTS; gain-of-function mutation resulting in a decreased threshold of channel activation and slower deactivation compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs727502821EnsemblClinVar.1
Zimmermann-Laband syndrome 1 (ZLS1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS1 inheritance is autosomal dominant.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073957352S → Y in ZLS1; gain-of-function effect; accelerated channel activation and slower deactivation; associated in cis with L-383. 1 PublicationCorresponds to variant dbSNP:rs730882172EnsemblClinVar.1
Natural variantiVAR_073958375G → R in ZLS1; gain-of-function effect; accelerated channel activation and slower deactivation. 1 PublicationCorresponds to variant dbSNP:rs730882174EnsemblClinVar.1
Natural variantiVAR_073959379L → V in ZLS1. 1 PublicationCorresponds to variant dbSNP:rs730882176EnsemblClinVar.1
Natural variantiVAR_073960383V → L in ZLS1; gain-of-function effect; accelerated channel activation and slower deactivation; associated in cis with Y-352. 1 PublicationCorresponds to variant dbSNP:rs730882173EnsemblClinVar.1
Natural variantiVAR_072614494I → V in TMBTS and ZLS1; gain-of-function effect; resulting in a decreased threshold of channel activation and slower deactivation. 2 PublicationsCorresponds to variant dbSNP:rs727502819EnsemblClinVar.1
Natural variantiVAR_073961496G → R in ZLS1; gain-of-function effect; increased conductance at negative potentials. 1 PublicationCorresponds to variant dbSNP:rs730882175EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi699 – 701YNL → ANA: Shifts the voltage-dependence of channel gating and decreases the rate of channel opening. 1 Publication3
Mutagenesisi737V → S: Abolishes inhibition of channel activity by elevated cytoplasmic Ca(2+). 1 Publication1
Mutagenesisi740L → S: Abolishes inhibition of channel activity by elevated cytoplasmic Ca(2+). 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		3756

MalaCards human disease database

More...MalaCardsi		KCNH1
MIMi135500, phenotype
611816, phenotype

Open Targets

More...OpenTargetsi		ENSG00000143473

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		420561, Temple-Baraitser syndrome
3473, Zimmermann-Laband syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30037

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O95259, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3841

Drug and drug target database

More...DrugBanki		DB00637, Astemizole
DB00228, Enflurane
DB00458, Imipramine
DB01110, Miconazole
DB01069, Promethazine

DrugCentral

More...DrugCentrali		O95259

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		570

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KCNH1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000539941 – 989Potassium voltage-gated channel subfamily H member 1Add BLAST989

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi415N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi433N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei974PhosphoserineBy similarity1
Modified residuei978PhosphoserineBy similarity1
Modified residuei981PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Channel activity is regulated via tyrosine phosphorylation/dephosphorylation by SRC and PTPN6 (PubMed:24587194).1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O95259

MaxQB - The MaxQuant DataBase

More...MaxQBi		O95259

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O95259

PeptideAtlas

More...PeptideAtlasi		O95259

PRoteomics IDEntifications database

More...PRIDEi		O95259

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		50755 [O95259-1]
50756 [O95259-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O95259, 3 sites, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O95259

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O95259

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues. Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in normal epithelial cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000143473, Expressed in prefrontal cortex and 80 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O95259, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O95259, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000143473, Group enriched (brain, choroid plexus)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The potassium channel is composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH5/EAG2 (PubMed:11943152).

Interacts with ALG10B (By similarity).

Interacts with RABEP1 (By similarity).

Interacts (via C-terminus) with CTTN (PubMed:23144454).

Interacts (via C-terminal cytoplasmic region) with Ca2+-bound calmodulin (PubMed:10880439, PubMed:27325704, PubMed:27618660).

Interacts with the spider kappa-theraphotoxin-Aa1a and mu/kappa-theraphotoxin-Ap1a (PubMed:30149017).

By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109958, 10 interactors

Protein interaction database and analysis system

More...IntActi		O95259, 11 interactors

Molecular INTeraction database

More...MINTi		O95259

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000271751

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O95259

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O95259, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1989
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O95259

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini14 – 94PASPROSITE-ProRule annotationAdd BLAST81
Domaini93 – 145PACPROSITE-ProRule annotationAdd BLAST53

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni151 – 162Required for phosphatidylinositol bisphosphate binding1 PublicationAdd BLAST12
Regioni673 – 770Calmodulin-binding1 PublicationAdd BLAST98
Regioni699 – 701Interaction with cyclic nucleotide-binding pocketBy similarity3
Regioni855 – 886DisorderedSequence analysisAdd BLAST32
Regioni924 – 964CAD (involved in subunit assembly)By similarityAdd BLAST41
Regioni962 – 989DisorderedSequence analysisAdd BLAST28

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi463 – 468Selectivity filterBy similarity6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi855 – 874Basic and acidic residuesSequence analysisAdd BLAST20

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.By similarity
The C-terminal region interacts with the cyclic nucleotide-binding domain and contributes to regulate channel gating.By similarity
The PAS and PAC domain interact with the cyclic nucleotide-binding domain and contribute to the regulation of channel gating (PubMed:27325704). Calmodulin binding clamps together the PAS and PAC domain with the cyclic nucleotide-binding domain from a neighboring subunit and causes a conformation change that leads to channel closure.By similarity1 Publication
The cyclic nucleotide-binding domain lacks residues that are essential for nucleotide-binding and cannot bind cyclic nucleotides. Instead, residues from the C-terminal domain (the so-called intrinsic ligand) bind in the cavity that would be expected to bind cyclic nucleotides. Interaction with the C-terminal region hinders interaction with CALM and reduces the affinity for CALM.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0501, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155793

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005746_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O95259

Identification of Orthologs from Complete Genome Data

More...OMAi		CGKAEDW

Database of Orthologous Groups

More...OrthoDBi		464006at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O95259

TreeFam database of animal gene trees

More...TreeFami		TF313130

Family and domain databases

Conserved Domains Database

More...CDDi		cd00038, CAP_ED, 1 hit
cd00130, PAS, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.120.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR018490, cNMP-bd-like
IPR000595, cNMP-bd_dom
IPR030170, EAG1
IPR005821, Ion_trans_dom
IPR003949, K_chnl_volt-dep_EAG
IPR003938, K_chnl_volt-dep_EAG/ELK/ERG
IPR001610, PAC
IPR000014, PAS
IPR000700, PAS-assoc_C
IPR035965, PAS-like_dom_sf
IPR014710, RmlC-like_jellyroll

The PANTHER Classification System

More...PANTHERi		PTHR10217:SF530, PTHR10217:SF530, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00027, cNMP_binding, 1 hit
PF00520, Ion_trans, 1 hit
PF13426, PAS_9, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01463, EAGCHANLFMLY
PR01464, EAGCHANNEL

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00100, cNMP, 1 hit
SM00086, PAC, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51206, SSF51206, 1 hit
SSF55785, SSF55785, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00229, sensory_box, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50042, CNMP_BINDING_3, 1 hit
PS50113, PAC, 1 hit
PS50112, PAS, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: O95259-1) [UniParc]FASTAAdd to basket
Also known as: hEAGB

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTMAGGRRGL VAPQNTFLEN IVRRSNDTNF VLGNAQIVDW PIVYSNDGFC 
        60         70         80         90        100
KLSGYHRAEV MQKSSTCSFM YGELTDKDTI EKVRQTFENY EMNSFEILMY 
       110        120        130        140        150
KKNRTPVWFF VKIAPIRNEQ DKVVLFLCTF SDITAFKQPI EDDSCKGWGK 
       160        170        180        190        200
FARLTRALTS SRGVLQQLAP SVQKGENVHK HSRLAEVLQL GSDILPQYKQ 
       210        220        230        240        250
EAPKTPPHII LHYCVFKTTW DWIILILTFY TAILVPYNVS FKTRQNNVAW 
       260        270        280        290        300
LVVDSIVDVI FLVDIVLNFH TTFVGPAGEV ISDPKLIRMN YLKTWFVIDL 
       310        320        330        340        350
LSCLPYDVIN AFENVDEVSA FMGDPGKIGF ADQIPPPLEG RESQGISSLF 
       360        370        380        390        400
SSLKVVRLLR LGRVARKLDH YIEYGAAVLV LLVCVFGLAA HWMACIWYSI 
       410        420        430        440        450
GDYEIFDEDT KTIRNNSWLY QLAMDIGTPY QFNGSGSGKW EGGPSKNSVY 
       460        470        480        490        500
ISSLYFTMTS LTSVGFGNIA PSTDIEKIFA VAIMMIGSLL YATIFGNVTT 
       510        520        530        540        550
IFQQMYANTN RYHEMLNSVR DFLKLYQVPK GLSERVMDYI VSTWSMSRGI 
       560        570        580        590        600
DTEKVLQICP KDMRADICVH LNRKVFKEHP AFRLASDGCL RALAMEFQTV 
       610        620        630        640        650
HCAPGDLIYH AGESVDSLCF VVSGSLEVIQ DDEVVAILGK GDVFGDVFWK 
       660        670        680        690        700
EATLAQSCAN VRALTYCDLH VIKRDALQKV LEFYTAFSHS FSRNLILTYN 
       710        720        730        740        750
LRKRIVFRKI SDVKREEEER MKRKNEAPLI LPPDHPVRRL FQRFRQQKEA 
       760        770        780        790        800
RLAAERGGRD LDDLDVEKGN VLTEHASANH SLVKASVVTV RESPATPVSF 
       810        820        830        840        850
QAASTSGVPD HAKLQAPGSE CLGPKGGGGD CAKRKSWARF KDACGKSEDW 
       860        870        880        890        900
NKVSKAESME TLPERTKASG EATLKKTDSC DSGITKSDLR LDNVGEARSP 
       910        920        930        940        950
QDRSPILAEV KHSFYPIPEQ TLQATVLEVR HELKEDIKAL NAKMTNIEKQ 
       960        970        980 
LSEILRILTS RRSSQSPQEL FEISRPQSPE SERDIFGAS
Length:989
Mass (Da):111,423
Last modified:May 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCAA8CB251300C7E5
GO
Isoform 1 (identifier: O95259-2) [UniParc]FASTAAdd to basket
Also known as: hEAG

The sequence of this isoform differs from the canonical sequence as follows:
     318-344: Missing.

Show »
Length:962
Mass (Da):108,597
Checksum:i9CC995AFF156582D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PPA2A0A1W2PPA2_HUMAN
Potassium voltage-gated channel sub...
KCNH1
605Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0S1TJ81A0A0S1TJ81_HUMAN
Potassium voltage-gated channel sub...
KCNH1
454Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PNI2A0A1W2PNI2_HUMAN
Potassium voltage-gated channel sub...
KCNH1
940Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1X7SBS6A0A1X7SBS6_HUMAN
Potassium voltage-gated channel sub...
KCNH1
913Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PP68A0A1W2PP68_HUMAN
Potassium voltage-gated channel sub...
KCNH1
354Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRV9A0A1W2PRV9_HUMAN
Potassium voltage-gated channel sub...
KCNH1
327Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRD8A0A1W2PRD8_HUMAN
Potassium voltage-gated channel sub...
KCNH1
208Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRZ5A0A1W2PRZ5_HUMAN
Potassium voltage-gated channel sub...
KCNH1
427Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072612217K → N in TMBTS; gain-of-function mutation resulting in a decreased threshold of channel activation and slower deactivation compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs727502822EnsemblClinVar.1
Natural variantiVAR_073957352S → Y in ZLS1; gain-of-function effect; accelerated channel activation and slower deactivation; associated in cis with L-383. 1 PublicationCorresponds to variant dbSNP:rs730882172EnsemblClinVar.1
Natural variantiVAR_073958375G → R in ZLS1; gain-of-function effect; accelerated channel activation and slower deactivation. 1 PublicationCorresponds to variant dbSNP:rs730882174EnsemblClinVar.1
Natural variantiVAR_073959379L → V in ZLS1. 1 PublicationCorresponds to variant dbSNP:rs730882176EnsemblClinVar.1
Natural variantiVAR_073960383V → L in ZLS1; gain-of-function effect; accelerated channel activation and slower deactivation; associated in cis with Y-352. 1 PublicationCorresponds to variant dbSNP:rs730882173EnsemblClinVar.1
Natural variantiVAR_072613489L → F in TMBTS; gain-of-function mutation resulting in a decreased threshold of channel activation and slower deactivation compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs1553345948EnsemblClinVar.1
Natural variantiVAR_072614494I → V in TMBTS and ZLS1; gain-of-function effect; resulting in a decreased threshold of channel activation and slower deactivation. 2 PublicationsCorresponds to variant dbSNP:rs727502819EnsemblClinVar.1
Natural variantiVAR_073961496G → R in ZLS1; gain-of-function effect; increased conductance at negative potentials. 1 PublicationCorresponds to variant dbSNP:rs730882175EnsemblClinVar.1
Natural variantiVAR_072615503Q → R in TMBTS; gain-of-function mutation resulting in a decreased threshold of channel activation and slower deactivation compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs727502821EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000964318 – 344Missing in isoform 1. 2 PublicationsAdd BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AJ001366 mRNA Translation: CAA04700.1
AF078741 mRNA Translation: AAC68668.1
AF078742 mRNA Translation: AAC68669.1
AC092017 Genomic DNA No translation available.
AC096636 Genomic DNA No translation available.
AC099755 Genomic DNA No translation available.
AL590132 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93424.1
CH471100 Genomic DNA Translation: EAW93425.1
BC113709 mRNA Translation: AAI13710.1
BC143599 mRNA Translation: AAI43600.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1496.1 [O95259-1]
CCDS31015.1 [O95259-2]

NCBI Reference Sequences

More...RefSeqi		NP_002229.1, NM_002238.3 [O95259-2]
NP_758872.1, NM_172362.2 [O95259-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000271751; ENSP00000271751; ENSG00000143473
ENST00000638960; ENSP00000492302; ENSG00000143473 [O95259-2]
ENST00000639952; ENSP00000492697; ENSG00000143473 [O95259-2]
ENST00000640528; ENSP00000491725; ENSG00000143473 [O95259-2]
ENST00000640710; ENSP00000492513; ENSG00000143473 [O95259-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3756

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3756

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000271751.10; ENSP00000271751.4; NM_172362.3; NP_758872.1

UCSC genome browser

More...UCSCi		uc001hib.3, human [O95259-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ001366 mRNA Translation: CAA04700.1
AF078741 mRNA Translation: AAC68668.1
AF078742 mRNA Translation: AAC68669.1
AC092017 Genomic DNA No translation available.
AC096636 Genomic DNA No translation available.
AC099755 Genomic DNA No translation available.
AL590132 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93424.1
CH471100 Genomic DNA Translation: EAW93425.1
BC113709 mRNA Translation: AAI13710.1
BC143599 mRNA Translation: AAI43600.1
CCDSiCCDS1496.1 [O95259-1]
CCDS31015.1 [O95259-2]
RefSeqiNP_002229.1, NM_002238.3 [O95259-2]
NP_758872.1, NM_172362.2 [O95259-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J7EX-ray1.90A/B/C/D/E/F1-146[»]
SMRiO95259
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109958, 10 interactors
IntActiO95259, 11 interactors
MINTiO95259
STRINGi9606.ENSP00000271751

Chemistry databases

BindingDBiO95259
ChEMBLiCHEMBL3841
DrugBankiDB00637, Astemizole
DB00228, Enflurane
DB00458, Imipramine
DB01110, Miconazole
DB01069, Promethazine
DrugCentraliO95259
GuidetoPHARMACOLOGYi570

Protein family/group databases

TCDBi1.I.1.1.3, the nuclear pore complex (npc) family

PTM databases

GlyGeniO95259, 3 sites, 1 O-linked glycan (1 site)
iPTMnetiO95259
PhosphoSitePlusiO95259

Genetic variation databases

BioMutaiKCNH1

Proteomic databases

MassIVEiO95259
MaxQBiO95259
PaxDbiO95259
PeptideAtlasiO95259
PRIDEiO95259
ProteomicsDBi50755 [O95259-1]
50756 [O95259-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		20707, 229 antibodies from 28 providers

The DNASU plasmid repository

More...DNASUi		3756

Genome annotation databases

EnsembliENST00000271751; ENSP00000271751; ENSG00000143473
ENST00000638960; ENSP00000492302; ENSG00000143473 [O95259-2]
ENST00000639952; ENSP00000492697; ENSG00000143473 [O95259-2]
ENST00000640528; ENSP00000491725; ENSG00000143473 [O95259-2]
ENST00000640710; ENSP00000492513; ENSG00000143473 [O95259-2]
GeneIDi3756
KEGGihsa:3756
MANE-SelectiENST00000271751.10; ENSP00000271751.4; NM_172362.3; NP_758872.1
UCSCiuc001hib.3, human [O95259-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3756
DisGeNETi3756

GeneCards: human genes, protein and diseases

More...GeneCardsi		KCNH1
HGNCiHGNC:6250, KCNH1
HPAiENSG00000143473, Group enriched (brain, choroid plexus)
MalaCardsiKCNH1
MIMi135500, phenotype
603305, gene
611816, phenotype
neXtProtiNX_O95259
OpenTargetsiENSG00000143473
Orphaneti420561, Temple-Baraitser syndrome
3473, Zimmermann-Laband syndrome
PharmGKBiPA30037
VEuPathDBiHostDB:ENSG00000143473

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0501, Eukaryota
GeneTreeiENSGT00940000155793
HOGENOMiCLU_005746_3_1_1
InParanoidiO95259
OMAiCGKAEDW
OrthoDBi464006at2759
PhylomeDBiO95259
TreeFamiTF313130

Enzyme and pathway databases

PathwayCommonsiO95259
ReactomeiR-HSA-1296072, Voltage gated Potassium channels
SignaLinkiO95259

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3756, 3 hits in 1040 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		KCNH1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KCNH1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		3756
PharosiO95259, Tclin

Protein Ontology

More...PROi		PR:O95259
RNActiO95259, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000143473, Expressed in prefrontal cortex and 80 other tissues
ExpressionAtlasiO95259, baseline and differential
GenevisibleiO95259, HS

Family and domain databases

CDDicd00038, CAP_ED, 1 hit
cd00130, PAS, 1 hit
Gene3Di2.60.120.10, 1 hit
InterProiView protein in InterPro
IPR018490, cNMP-bd-like
IPR000595, cNMP-bd_dom
IPR030170, EAG1
IPR005821, Ion_trans_dom
IPR003949, K_chnl_volt-dep_EAG
IPR003938, K_chnl_volt-dep_EAG/ELK/ERG
IPR001610, PAC
IPR000014, PAS
IPR000700, PAS-assoc_C
IPR035965, PAS-like_dom_sf
IPR014710, RmlC-like_jellyroll
PANTHERiPTHR10217:SF530, PTHR10217:SF530, 1 hit
PfamiView protein in Pfam
PF00027, cNMP_binding, 1 hit
PF00520, Ion_trans, 1 hit
PF13426, PAS_9, 1 hit
PRINTSiPR01463, EAGCHANLFMLY
PR01464, EAGCHANNEL
SMARTiView protein in SMART
SM00100, cNMP, 1 hit
SM00086, PAC, 1 hit
SUPFAMiSSF51206, SSF51206, 1 hit
SSF55785, SSF55785, 1 hit
TIGRFAMsiTIGR00229, sensory_box, 1 hit
PROSITEiView protein in PROSITE
PS50042, CNMP_BINDING_3, 1 hit
PS50113, PAC, 1 hit
PS50112, PAS, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKCNH1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95259
Secondary accession number(s): B1AQ26, O76035, Q14CL3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: May 1, 1999
Last modified: February 23, 2022
This is version 202 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again