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

    Gene ID: 3750, updated on 2-Nov-2024

    Summary

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    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

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    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

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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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 cellular_component ND
    No biological Data available
    more info
    		  
    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

    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.

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