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KCNT1 potassium sodium-activated channel subfamily T member 1 [ Homo sapiens (human) ]

Gene ID: 57582, updated on 25-Oct-2020

Summary

Official Symbol
KCNT1provided by HGNC
Official Full Name
potassium sodium-activated channel subfamily T member 1provided by HGNC
Primary source
HGNC:HGNC:18865
See related
Ensembl:ENSG00000107147 MIM:608167
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
DEE14; ENFL5; SLACK; EIEE14; KCa4.1; Slo2.2; bA100C15.2
Summary
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Expression
Biased expression in brain (RPKM 4.3), spleen (RPKM 2.1) and 2 other tissues See more
Orthologs

Genomic context

See KCNT1 in Genome Data Viewer
Location:
9q34.3
Exon count:
38
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (135702185..135795502)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (138594031..138684993)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376317 Neighboring gene uncharacterized LOC105376318 Neighboring gene spermatogenesis and oogenesis specific basic helix-loop-helix 1 Neighboring gene Sharpr-MPRA regulatory region 14740 Neighboring gene uncharacterized LOC107987139 Neighboring gene uncharacterized LOC107987140 Neighboring gene calmodulin regulated spectrin associated protein 1 Neighboring gene Sharpr-MPRA regulatory region 8889 Neighboring gene uncharacterized LOC107987141

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?

General gene information

Markers

Homology

Clone Names

  • FLJ41282

Gene Ontology Provided by GOA

Function Evidence Code Pubs
intracellular sodium activated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
outward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
potassium channel subfamily T member 1
Names
Sequence like a calcium-activated K+ channel
potassium channel, sodium activated subfamily T, member 1
potassium channel, subfamily T, member 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.

Genomic

  1. NG_033070.1 RefSeqGene

    Range
    5001..95963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001272003.2NP_001258932.1  potassium channel subfamily T member 1 isoform 2

    See identical proteins and their annotated locations for NP_001258932.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region, uses an alternate splice site in the 5' region and contains an additional exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL158822
    Consensus CDS
    CCDS65188.1
    UniProtKB/Swiss-Prot
    Q5JUK3
    Related
    ENSP00000486374.1, ENST00000628528.2
    Conserved Domains (2) summary
    pfam03493
    Location:458553
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:252305
    Ion_trans_2; Ion channel
  2. NM_020822.3NP_065873.2  potassium channel subfamily T member 1 isoform 1

    See identical proteins and their annotated locations for NP_065873.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK127272, AL158822, BC171770, BX110871, DA095802
    Consensus CDS
    CCDS35175.2
    UniProtKB/Swiss-Prot
    Q5JUK3
    Related
    ENSP00000360822.2, ENST00000371757.7
    Conserved Domains (2) summary
    pfam03493
    Location:503598
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:277350
    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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    135702185..135795502
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518878.3XP_011517180.1  potassium channel subfamily T member 1 isoform X2

    Conserved Domains (2) summary
    pfam03493
    Location:551646
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:345398
    Ion_trans_2; Ion channel
  2. XM_011518877.3XP_011517179.1  potassium channel subfamily T member 1 isoform X1

    Related
    ENSP00000501742.1, ENST00000674572.1
    Conserved Domains (2) summary
    pfam03493
    Location:548643
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:322395
    Ion_trans_2; Ion channel
  3. XM_011518879.3XP_011517181.1  potassium channel subfamily T member 1 isoform X3

    Conserved Domains (2) summary
    pfam03493
    Location:548643
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:322395
    Ion_trans_2; Ion channel
  4. XM_011518880.1XP_011517182.1  potassium channel subfamily T member 1 isoform X5

    UniProtKB/TrEMBL
    A0A0R4J2E0
    Related
    ENSP00000263604.4, ENST00000263604.5
    Conserved Domains (2) summary
    pfam03493
    Location:470565
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:244317
    Ion_trans_2; Ion channel
  5. XM_024447618.1XP_024303386.1  potassium channel subfamily T member 1 isoform X7

    Conserved Domains (3) summary
    pfam00520
    Location:3172
    Ion_trans; Ion transport protein
    pfam03493
    Location:333428
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:127180
    Ion_trans_2; Ion channel
  6. XM_017014933.1XP_016870422.1  potassium channel subfamily T member 1 isoform X7

    Conserved Domains (3) summary
    pfam00520
    Location:3172
    Ion_trans; Ion transport protein
    pfam03493
    Location:333428
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:127180
    Ion_trans_2; Ion channel
  7. XM_017014931.1XP_016870420.1  potassium channel subfamily T member 1 isoform X4

  8. XM_017014932.1XP_016870421.1  potassium channel subfamily T member 1 isoform X6

    Related
    ENSP00000502322.1, ENST00000676421.1
  9. XM_024447617.1XP_024303385.1  potassium channel subfamily T member 1 isoform X7

    Conserved Domains (3) summary
    pfam00520
    Location:3172
    Ion_trans; Ion transport protein
    pfam03493
    Location:333428
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:127180
    Ion_trans_2; Ion channel
  10. XM_011518881.3XP_011517183.1  potassium channel subfamily T member 1 isoform X7

    Conserved Domains (3) summary
    pfam00520
    Location:3172
    Ion_trans; Ion transport protein
    pfam03493
    Location:333428
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:127180
    Ion_trans_2; Ion channel
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