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

Gene ID: 3782, updated on 17-Jun-2019

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; 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

Genomic context

See KCNN3 in Genome Data Viewer
Location:
1q21.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (154697455..154870281, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154669938..154842754, 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 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common variants in KCNN3 are associated with lone atrial fibrillation.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

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

Pathways from BioSystems

  • Ca2+ activated K+ channels, organism-specific biosystem (from REACTOME)
    Ca2+ activated K+ channels, organism-specific biosystemCa2+ activated potassium channels are expressed in neuronal and non-neuronal tissue such as smooth muscle, epithelial cell and sensory cells. Ca2+ activated potassium channels are activated when the ...
  • Insulin secretion, organism-specific biosystem (from KEGG)
    Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
small conductance calcium-activated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    5001..177817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204087.1NP_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, 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
    Conserved Domains (4) summary
    pfam02888
    Location:248320
    CaMBD; Calmodulin binding domain
    pfam03530
    Location:167
    SK_channel; Calcium-activated SK potassium channel
    pfam07885
    Location:155234
    Ion_trans_2; Ion channel
    cl09111
    Location:282360
    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 Annotation Release 109

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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