Gene

kcnh1a

ID

ZDB-GENE-061226-1

Name

potassium voltage-gated channel, subfamily H (eag-related), member 1a

Symbol

kcnh1a Nomenclature History

Previous Names

kcnh1

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Exhibits voltage-gated potassium channel activity. Involved in hindbrain formation and somitogenesis. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in colorectal adenocarcinoma. Is expressed in heart; nervous system; pleuroperitoneal region; and trunk. Orthologous to human KCNH1 (potassium voltage-gated channel subfamily H member 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Stengel et al., 2012

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Stengel et al., 2012
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With kcnh1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Temple-Baraitser syndrome	611816
		Zimmermann-Laband syndrome 1	135500

Associated With kcnh1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000014	PAS domain
Domain	IPR000595	Cyclic nucleotide-binding domain
Domain	IPR000700	PAS-associated, C-terminal
Domain	IPR005821	Ion transport domain
Family	IPR003949	Potassium channel, voltage-dependent, EAG
Homologous_superfamily	IPR014710	RmlC-like jelly roll fold
Homologous_superfamily	IPR018490	Cyclic nucleotide-binding domain superfamily
Homologous_superfamily	IPR035965	PAS domain superfamily
Repeat	IPR001610	PAC motif

Domain Details Per Protein

Protein	Length	Cyclic nucleotide-binding domain	Cyclic nucleotide-binding domain superfamily	Ion transport domain	PAC motif	PAS-associated, C-terminal	PAS domain	PAS domain superfamily	Potassium channel, voltage-dependent, EAG	RmlC-like jelly roll fold
UniProtKB:Q108P3 InterPro	959
UniProtKB:A0A8M3AJ13 InterPro	968
UniProtKB:A0A8M3ARE9 InterPro	977
UniProtKB:A0A8M9PEA3 InterPro	476
UniProtKB:A0A8M3B2G4 InterPro	968