Entity Details

Primary name KCNH1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95259
EntryNameKCNH1_HUMAN
FullNamePotassium voltage-gated channel subfamily H member 1
TaxID9606
Evidenceevidence at protein level
Length989
SequenceStatuscomplete
DateCreated2002-11-28
DateModified2021-06-02

Ontological Relatives

GenesKCNH1

GO terms

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GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005516 calmodulin binding
GO:0005637 nuclear inner membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006813 potassium ion transport
GO:0007520 myoblast fusion
GO:0008076 voltage-gated potassium channel complex
GO:0030424 axon
GO:0030425 dendrite
GO:0031901 early endosome membrane
GO:0034765 regulation of ion transmembrane transport
GO:0042127 regulation of cell population proliferation
GO:0042391 regulation of membrane potential
GO:0042734 presynaptic membrane
GO:0043204 perikaryon
GO:0043231 intracellular membrane-bounded organelle
GO:0048015 phosphatidylinositol-mediated signaling
GO:0071277 cellular response to calcium ion
GO:0071805 potassium ion transmembrane transport
GO:0098839 postsynaptic density membrane
GO:1902936 phosphatidylinositol bisphosphate binding

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cell projection
Early endosome membrane
Nucleus inner membrane
Perikaryon

Domains

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DomainNameCategoryType
IPR000014 PAS domainDomainDomain
IPR000595 Cyclic nucleotide-binding domainDomainDomain
IPR000700 PAS-associated, C-terminalDomainDomain
IPR001610 PAC motifRepeatRepeat
IPR003938 Potassium channel, voltage-dependent, EAG/ELK/ERGFamilyFamily
IPR003949 Potassium channel, voltage-dependent, EAGFamilyFamily
IPR005821 Ion transport domainDomainDomain
IPR014710 RmlC-like jelly roll foldFamilyHomologous superfamily
IPR018490 Cyclic nucleotide-binding-likeFamilyHomologous superfamily
IPR030170 Potassium voltage-gated channel subfamily H member 1FamilyFamily
IPR035965 PAS domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
135500 OMIMZimmermann-Laband syndrome 1 (ZLS1)A 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. The disease is caused by variants affecting the gene represented in this entry.
611816 OMIMTemple-Baraitser syndrome (TMBTS)A 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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00228 EnfluraneDrugbanksmall molecule
DB00458 ImipramineDrugbanksmall molecule
DB00637 AstemizoleDrugbanksmall molecule
DB01069 PromethazineDrugbanksmall molecule
DB01110 MiconazoleDrugbanksmall molecule