U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 3750, updated on 14-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See KCND1 in Genome Data Viewer
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_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48780780-48781287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48781288-48781794 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:48784732-48785370 Neighboring gene OTU deubiquitinase 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:48794231-48795004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29623 Neighboring gene CRISPRi-validated PIM2 and PQBP1 regulatory elements GRCh37_chrX:48797400-48798550 and GRCh37_chrX:48797725-48798225 Neighboring gene CRISPRi-validated PIM2 and PQBP1 regulatory elements GRCh37_chrX:48798640-48799830 and GRCh37_chrX:48798965-48799505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29625 Neighboring gene Sharpr-MPRA regulatory region 12141 Neighboring gene RNA, U6 small nuclear 722, pseudogene Neighboring gene GRIP1 associated protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48840212-48840468 Neighboring gene Sharpr-MPRA regulatory region 9113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29627 Neighboring gene CRISPRi-FlowFISH-validated HDAC6 regulatory element 4 Neighboring gene Sharpr-MPRA regulatory region 2669 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48900209-48901072 Neighboring gene transcription factor binding to IGHM enhancer 3

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity. Kalm T, et al. Am J Hum Genet, 2024 Jun 6. PMID 38772379, Free PMC Article
  2. Endogenous Kv channels in human embryonic kidney (HEK-293) cells. Jiang B, et al. Mol Cell Biochem, 2002 Sep. PMID 12349911
  3. Electrophysiological properties of human adipose tissue-derived stem cells. Bai X, et al. Am J Physiol Cell Physiol, 2007 Nov. PMID 17687001
  4. Involvement of Kv4.1 K(+) channels in gastric cancer cell proliferation. Kim HJ, et al. Biol Pharm Bull, 2010. PMID 20930388
  5. Volume regulation in the human airway epithelial cell line Calu-3. Harron SA, et al. Can J Physiol Pharmacol, 2009 May. PMID 19448731

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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

  1. NG_012515.2 RefSeqGene

    Range
    4996..15460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    48961380..48971844 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791820.1 Reference GRCh38.p14 PATCHES

    Range
    120215..130679 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    48371842..48382307 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NSA2.2 GenPept UniProtKB/Swiss-Prot:Q9NSA2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous