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    KCNN3 potassium calcium-activated channel subfamily N member 3 [ Homo sapiens (human) ]

    Gene ID: 3782, updated on 8-Jul-2021

    Summary

    Official Symbol
    KCNN3provided by HGNC
    Official Full Name
    potassium calcium-activated channel subfamily N member 3provided by HGNC
    Primary source
    HGNC:HGNC:6292
    See related
    Ensembl:ENSG00000143603 MIM:602983
    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
    SK3; ZLS3; hSK3; SKCA3; KCa2.3
    Summary
    Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
    Expression
    Broad expression in brain (RPKM 8.1), endometrium (RPKM 1.9) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNN3 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (154697455..154870281, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154669931..154842757, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985206 Neighboring gene cholinergic receptor nicotinic beta 2 subunit Neighboring gene adenosine deaminase RNA specific Neighboring gene Sharpr-MPRA regulatory region 6464 Neighboring gene Sharpr-MPRA regulatory region 4766 Neighboring gene uncharacterized LOC105371449 Neighboring gene phosphomevalonate kinase

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Common variants in KCNN3 are associated with lone atrial fibrillation.
    GeneReviews: Not available
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    GeneReviews: Not available
    Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
    GeneReviews: Not available
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available
    Zimmermann-laband syndrome 3
    MedGen: C5231447 OMIM: 618658 GeneReviews: Not available
    not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 from both CCR5- and CXCR4-tropic HIV-1 strains opens calcium-activated potassium (K(Ca)), chloride, and calcium-permeant nonselective cation channels in macrophages; these signals are mediated by CCR5 and CXCR4 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    small conductance calcium-activated potassium channel protein 3
    Names
    SKCa 3
    potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
    potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3
    small conductance calcium-activated potassium channel 3

    NCBI Reference Sequences (RefSeq)

    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_016807.2 RefSeqGene

      Range
      4998..177824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001204087.2NP_001191016.1  small conductance calcium-activated potassium channel protein 3 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an additional in-frame coding exon compared to variant 1, resulting in a longer isoform (c, also known as SK3-ex4) containing a 15 aa protein segment that is not found in isoform a. This variant does not have independent transcript support; it was based on a publication (PMID:14978258) that reports that this variant is widely expressed in different tissues, and the encoded isoform is active, but exhibits different pharmacological properties compared to isoform a.
      Source sequence(s)
      AJ251016, AL390204, AL606500, AW135188, BC042147
      Consensus CDS
      CCDS72928.1
      UniProtKB/Swiss-Prot
      Q9UGI6
      UniProtKB/TrEMBL
      A0A087WYJ0
      Related
      ENSP00000481848.1, ENST00000618040.4
      Conserved Domains (4) summary
      pfam02888
      Location:576648
      CaMBD; Calmodulin binding domain
      pfam03530
      Location:273380
      SK_channel; Calcium-activated SK potassium channel
      pfam07885
      Location:508562
      Ion_trans_2; Ion channel
      cl09111
      Location:610688
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    2. NM_001365837.1NP_001352766.1  small conductance calcium-activated potassium channel protein 3 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL390204, AL606500, AL954342
      Conserved Domains (4) summary
      pfam02888
      Location:263335
      CaMBD; Calmodulin binding domain
      pfam03530
      Location:167
      SK_channel; Calcium-activated SK potassium channel
      pfam07885
      Location:195249
      Ion_trans_2; Ion channel
      cl09111
      Location:297375
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    3. NM_001365838.1NP_001352767.1  small conductance calcium-activated potassium channel protein 3 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL390204, AL606500, AL954342
      Related
      ENSP00000351295.2, ENST00000358505.2
      Conserved Domains (4) summary
      smart01053
      Location:248323
      CaMBD; Calmodulin binding domain
      pfam03530
      Location:167
      SK_channel; Calcium-activated SK potassium channel
      pfam07885
      Location:155234
      Ion_trans_2; Ion channel
      cl09111
      Location:288360
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    4. NM_002249.6NP_002240.3  small conductance calcium-activated potassium channel protein 3 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a (also known as SK3).
      Source sequence(s)
      AJ251016, AL390204, AL606500, AW135188, BC042147
      Consensus CDS
      CCDS30880.1
      UniProtKB/Swiss-Prot
      Q9UGI6
      UniProtKB/TrEMBL
      A0A0A0MQW9
      Related
      ENSP00000271915.3, ENST00000271915.9
      Conserved Domains (4) summary
      pfam02888
      Location:561633
      CaMBD; Calmodulin binding domain
      pfam03530
      Location:273380
      SK_channel; Calcium-activated SK potassium channel
      pfam07885
      Location:468547
      Ion_trans_2; Ion channel
      cl09111
      Location:595673
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    5. NM_170782.3NP_740752.1  small conductance calcium-activated potassium channel protein 3 isoform b

      See identical proteins and their annotated locations for NP_740752.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1, resulting in translation initiation from a different start codon, and a shorter isoform (b) with a distinct N-terminus compared to isoform a. This isoform lacks the two CAG repeat regions.
      Source sequence(s)
      AA284005, AL390204, AL606500, AW135188, BC042147
      Consensus CDS
      CCDS1072.1
      UniProtKB/Swiss-Prot
      Q9UGI6
      Related
      ENSP00000354764.4, ENST00000361147.8
      Conserved Domains (4) summary
      pfam02888
      Location:256328
      CaMBD; Calmodulin binding domain
      pfam03530
      Location:675
      SK_channel; Calcium-activated SK potassium channel
      pfam07885
      Location:163242
      Ion_trans_2; Ion channel
      cl09111
      Location:290368
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      154697455..154870281 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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