• Gene id: 57582

Gene Summary

• Gene Symbol: KCNT1   Gene   UCSC   Ensembl
• Aliases: EIEE14, ENFL5, KCa4.1, SLACK, Slo2.2, bA100C15.2
• Gene name: potassium sodium-activated channel subfamily T member 1
• Alternate names: potassium channel subfamily T member 1, Sequence like a calcium-activated K+ channel, potassium channel, sodium activated subfamily T, member 1, potassium channel, subfamily T, member 1,
• Gene location: 9q34.3 (135702184: 135795501)     Exons: 38     NC_000009.12
• Gene summary(Entrez): 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, e
• OMIM: 618597

Protein Summary

• Protein general information: Q5JUK3  
  • Name: Potassium channel subfamily T member 1 (KCa4.1)
  • Length: 1230  
  • Mass: 138343
  • Tissue specificity: Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle. {ECO
• Sequence:

  MARAKLPRSPSEGKAGPGGAPAGAAAPEEPHGLSPLLPARGGGSVGSDVGQRLPVEDFSLDSSLSQVQVEFYVNE
  NTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDPALGIGCWGCPKQNYSFNDSSSEINWAPILW
  VERKMTLWAIQVIVAIISFLETMLLIYLSYKGNIWEQIFRVSFVLEMINTLPFIITIFWPPLRNLFIPVFLNCWL
  AKHALENMINDFHRAILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENLSLLTSFYFCIVTFSTVGYGD
  VTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSRHRAQTEKHVVLCVSSLKIDLLMDFLNEFY
  AHPRLQDYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKDQDLMRAKMDNGEACFILSSRNEVDRTAADH
  QTILRAWAVKDFAPNCPLYVQILKPENKFHVKFADHVVCEEECKYAMLALNCICPATSTLITLLVHTSRGQEGQE
  SPEQWQRMYGRCSGNEVYHIRMGDSKFFREYEGKSFTYAAFHAHKKYGVCLIGLKREDNKSILLNPGPRHILAAS
  DTCFYINITKEENSAFIFKQEEKRKKRAFSGQGLHEGPARLPVHSIIASMGTVAMDLQGTEHRPTQSGGGGGGSK
  LALPTENGSGSRRPSIAPVLELADSSALLPCDLLSDQSEDEVTPSDDEGLSVVEYVKGYPPNSPYIGSSPTLCHL
  LPVKAPFCCLRLDKGCKHNSYEDAKAYGFKNKLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDH
  HFLEAICCFPMVYYMEGSVDNLDSLLQCGIIYADNLVVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITT
  ELTHPSNMRFMQFRAKDSYSLALSKLEKRERENGSNLAFMFRLPFAAGRVFSISMLDTLLYQSFVKDYMITITRL
  LLGLDTTPGSGYLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIGIYRTESHVFSTSESQISVNVEDCEDTREVK
  GPWGSRAGTGGSSQGRHTGGGDPAEHPLLRRKSLQWARRLSRKAPKQAGRAAAAEWISQQRLSLYRRSERQELSE
  LVKNRMKHLGLPTTGYEDVANLTASDVMNRVNLGYLQDEMNDHQNTLSYVLINPPPDTRLEPSDIVYLIRSDPLA
  HVASSSQSRKSSCSHKLSSCNPETRDETQL

• Structural information:
  • Protein Domains: (475..59-)
    (/note="RCK-N-terminal")
  • Interpro: IPR003929  IPR013099  
  • STRING: ENSP00000360822
• Other Databases: GeneCards:  KCNT1  Malacards:  KCNT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0015271	outward rectifier potassium channel activity	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
GO:0005228	intracellular sodium activated potassium channel activity	IBA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005267	potassium channel activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Nocturnal frontal lobe epilepsy	KEGG:H00807
Nocturnal frontal lobe epilepsy	KEGG:H00807
Malignant migrating partial seizures in infancy	KEGG:H01815
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray