KCND1 potassium voltage-gated channel subfamily D member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCND1provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily D member 1provided by HGNC
Primary source: HGNC:HGNC:6237
See related: Ensembl:ENSG00000102057 MIM:300281; AllianceGenome:HGNC:6237
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KV4.1
Summary: This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction. [provided by RefSeq, Aug 2013]
Expression: Ubiquitous expression in gall bladder (RPKM 1.4), brain (RPKM 1.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (48961380..48971844, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (48371842..48382307, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (48818641..48828251, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Title: Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Calbindin regulates Kv4.1 trafficking and excitability in dentate granule cells via CaMKII-dependent phosphorylation.
Title: Calbindin regulates Kv4.1 trafficking and excitability in dentate granule cells via CaMKII-dependent phosphorylation.
S-glutathionylation of an auxiliary subunit confers redox sensitivity to Kv4 channel inactivation.
Title: S-glutathionylation of an auxiliary subunit confers redox sensitivity to Kv4 channel inactivation.
reflected in the immunoblotting data KV4.1 receptors were detected at higher levels of expression in patient with cortical dysplasia with intractable epilepsy.
Title: Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy.
These results demonstrated that Kv4.1 plays a role in proliferation of tumorigenic human mammary epithelial cells.
Title: Silencing of Kv4.1 potassium channels inhibits cell proliferation of tumorigenic human mammary epithelial cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93281 (e-PCR)
- UniSTS:86810

RH91735 (e-PCR)
- UniSTS:92021

STS-Z38762 (e-PCR)
- UniSTS:77953

KCND1_1329 (e-PCR)
- UniSTS:277413

KCND1_v412 (e-PCR)
- UniSTS:277413

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables A-type (transient outward) potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables A-type (transient outward) potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: A-type voltage-gated potassium channel KCND1

Names: Shal-type potassium channel; potassium channel, voltage gated Shal related subfamily D, member 1; potassium voltage-gated channel, Shal-related subfamily, member 1; shal-type potassium channel KCND1; voltage-gated potassium channel subunit Kv4.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012515.2 RefSeqGene

Range

4996..15460

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004979.6 → NP_004970.3 A-type voltage-gated potassium channel KCND1

See identical proteins and their annotated locations for NP_004970.3

Status: REVIEWED

Source sequence(s)

AC233294, AJ005898, AK094431, BC045659

Consensus CDS

CCDS14314.1

UniProtKB/Swiss-Prot

A6NEF1, B2RCG0, O75671, Q9NSA2

Related

ENSP00000218176.3, ENST00000218176.4

Conserved Domains (4) summary

pfam11601
Location:3 → 28

Shal-type; Shal-type voltage-gated potassium channels, N-terminal

pfam00520
Location:185 → 417

Ion_trans; Ion transport protein

pfam02214
Location:42 → 131

BTB_2; BTB/POZ domain

pfam11879
Location:447 → 550

DUF3399; Domain of unknown function (DUF3399)