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KCNS1 potassium voltage-gated channel modifier subfamily S member 1 [ Homo sapiens (human) ]

Gene ID: 3787, updated on 22-Aug-2020

Summary

Official Symbol
KCNS1provided by HGNC
Official Full Name
potassium voltage-gated channel modifier subfamily S member 1provided by HGNC
Primary source
HGNC:HGNC:6300
See related
Ensembl:ENSG00000124134 MIM:602905
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
Kv9.1
Summary
Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 2.8), gall bladder (RPKM 1.3) and 3 other tissues See more
Orthologs

Genomic context

See KCNS1 in Genome Data Viewer
Location:
20q13.12
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45091214..45101127, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43720950..43729753, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene STK4 antisense RNA 1 (head to head) Neighboring gene serine/threonine kinase 4 Neighboring gene WAP four-disulfide core domain 5 Neighboring gene WAP four-disulfide core domain 12

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
A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
GeneReviews: Not available

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
potassium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated 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 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of delayed rectifier potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
potassium voltage-gated channel subfamily S member 1
Names
delayed-rectifier K(+) channel alpha subunit 1
potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1
voltage-gated potassium channel subunit Kv9.1

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.

mRNA and Protein(s)

  1. NM_001322799.2NP_001309728.1  potassium voltage-gated channel subfamily S member 1

    Status: REVIEWED

    Source sequence(s)
    AK289735, CA449742, Z93016
    Consensus CDS
    CCDS13342.1
    UniProtKB/Swiss-Prot
    Q96KK3
    UniProtKB/TrEMBL
    A2RUL8
    Related
    ENSP00000445595.1, ENST00000537075.3
    Conserved Domains (4) summary
    smart00225
    Location:54156
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:269468
    Ion_trans; Ion transport protein
    pfam02214
    Location:52151
    BTB_2; BTB/POZ domain
    pfam07885
    Location:378462
    Ion_trans_2; Ion channel
  2. NM_002251.5NP_002242.2  potassium voltage-gated channel subfamily S member 1

    See identical proteins and their annotated locations for NP_002242.2

    Status: REVIEWED

    Source sequence(s)
    AF043473, CA449742, Z93016
    Consensus CDS
    CCDS13342.1
    UniProtKB/Swiss-Prot
    Q96KK3
    UniProtKB/TrEMBL
    A2RUL8
    Related
    ENSP00000307694.1, ENST00000306117.5
    Conserved Domains (4) summary
    smart00225
    Location:54156
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:269468
    Ion_trans; Ion transport protein
    pfam02214
    Location:52151
    BTB_2; BTB/POZ domain
    pfam07885
    Location:378462
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    45091214..45101127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027846.1XP_016883335.1  potassium voltage-gated channel subfamily S member 1 isoform X1

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