• Gene id: 3758

Gene Summary

• Gene Symbol: KCNJ1   Gene   UCSC   Ensembl
• Aliases: KIR1.1, ROMK, ROMK1
• Gene name: potassium inwardly rectifying channel subfamily J member 1
• Alternate names: ATP-sensitive inward rectifier potassium channel 1, ATP-regulated potassium channel ROM-K, inward rectifier K(+) channel Kir1.1, inwardly rectifying K+ channel, potassium channel, inwardly rectifying subfamily J member 1, potassium voltage-gated channel subfam,
• Gene location: 11q24.3 (128867295: 128838019)     Exons: 5     NC_000011.10
• Gene summary(Entrez): Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by inter
• OMIM: 600150

SNPs

rs7811653

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.46362671C>A
NC_000007.13   g.46402269C>A|SEQ=[C/A]

Protein Summary

• Protein general information: P48048  
  • Name: ATP sensitive inward rectifier potassium channel 1 (ATP regulated potassium channel ROM K) (Inward rectifier K(+) channel Kir1.1) (Potassium channel, inwardly rectifying subfamily J member 1)
  • Length: 391  
  • Mass: 44795
  • Tissue specificity: In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver. {ECO
• Sequence:

  MNASSRNVFDTLIRVLTESMFKHLRKWVVTRFFGHSRQRARLVSKDGRCNIEFGNVEAQSRFIFFVDIWTTVLDL
  KWRYKMTIFITAFLGSWFFFGLLWYAVAYIHKDLPEFHPSANHTPCVENINGLTSAFLFSLETQVTIGYGFRCVT
  EQCATAIFLLIFQSILGVIINSFMCGAILAKISRPKKRAKTITFSKNAVISKRGGKLCLLIRVANLRKSLLIGSH
  IYGKLLKTTVTPEGETIILDQININFVVDAGNENLFFISPLTIYHVIDHNSPFFHMAAETLLQQDFELVVFLDGT
  VESTSATCQVRTSYVPEEVLWGYRFAPIVSKTKEGKYRVDFHNFSKTVEVETPHCAMCLYNEKDVRARMKRGYDN
  PNFILSEVNETDDTKM

• Structural information:
  • Interpro: IPR014756  IPR041647  IPR016449  IPR003268  IPR013518   IPR040445  
  • STRING: ENSP00000376432
• Other Databases: GeneCards:  KCNJ1  Malacards:  KCNJ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005524	ATP binding	ISS	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0015272	ATP-activated inward rectifier potassium channel activity	IBA	molecular function
GO:0034765	regulation of ion transmembrane transport	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0005242	inward rectifier potassium channel activity	IBA	molecular function
GO:0005242	inward rectifier potassium channel activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005242	inward rectifier potassium channel activity	TAS	molecular function
GO:0006813	potassium ion transport	TAS	biological process
GO:0008076	voltage-gated potassium channel complex	TAS	cellular component
GO:0007588	excretion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04971	Gastric acid secretion
hsa04960	Aldosterone-regulated sodium reabsorption

Diseases

Associated diseases	References
Bartter syndrome	KEGG:H00239
Bartter syndrome	KEGG:H00239
Cryptorchidism	MIK: 28606200

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