Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kcnj1provided by MGI
Official Full Name: potassium inwardly-rectifying channel, subfamily J, member 1provided by MGI
Primary source: MGI:MGI:1927248
See related: Ensembl:ENSMUSG00000041248 AllianceGenome:MGI:1927248
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ROMK; Romk2; Kir1.1
Summary: Predicted to enable several functions, including ATP-activated inward rectifier potassium channel activity; anion binding activity; and potassium ion binding activity. Acts upstream of or within several processes, including regulation of G-protein activated inward rectifier potassium channel activity; renal sodium ion absorption; and tissue homeostasis. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Is expressed in heart and metanephros. Used to study Bartter disease type 2. Human ortholog(s) of this gene implicated in Bartter disease type 2. Orthologous to human KCNJ1 (potassium inwardly rectifying channel subfamily J member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward kidney adult (RPKM 24.3) See more
Orthologs: human all
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Genomic context

Location:: 9 A4; 9 17.69 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (32283714..32310493)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (32372418..32399197)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Global knockout of ROMK potassium channel worsens cardiac ischemia-reperfusion injury but cardiomyocyte-specific knockout does not: Implications for the identity of mitoKATP.
Title: Global knockout of ROMK potassium channel worsens cardiac ischemia-reperfusion injury but cardiomyocyte-specific knockout does not: Implications for the identity of mitoKATP.
WNK1, but not WNK4, is required for high potassium intake-induced stimulation of ROMK activity in convoluted kidney tubules.
Title: Role of WNK4 and kidney-specific WNK1 in mediating the effect of high dietary K(+) intake on ROMK channel in the distal convoluted tubule.
ROMK is expressed in the urinary tract at both protein and mRNA levels. Significant enlargement and hypertrophy of the bladder may contribute to hydronephrosis in male ROMK KO mice.
Title: Urinary bladder hypertrophy characteristic of male ROMK Bartter's mice does not occur in female mice.
The results provide evidence that NHERF1 mediates K(+) current activity through acceleration of the surface expression of ROMK1 K(+) channels in M-1 cells.
Title: Na(+)/H(+) exchange regulatory factor 1 is required for ROMK1 K(+) channel expression in the surface membrane of cultured M-1 cortical collecting duct cells.
ENaC and ROMK channel activity in kidney tubules are inhibited in TgWnk4(pseudoaldosteronism type II) mice. Wnk4(PHAII)-induced inhibition of ENaC and ROMK may contribute to the suppression of K(+) secretion in the tubules.
Title: ENaC and ROMK activity are inhibited in the DCT2/CNT of TgWnk4(PHAII) mice.
The differential regulation of ROMK, large-conductance Ca(2+)-activated K(+) (BK) channel, BK-alpha and NKCC2 between female and male mice, at least, were partly mediated via WNK1 pathway, which may contribute to the sexual dimorphism of plasma K(+) and blood pressure control.
Title: Involvement of WNK1-mediated potassium channels in the sexual dimorphism of blood pressure.
Suggest that the hyperkalemia in knock-in mouse with the CUL3(Delta403-459) mutation is not caused by reduced ROMK expression in the distal nephron.
Title: ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3Δ403-459 mutation.
animal knockouts of ROMK1 do not produce Bartter phenotype. ROMK1 is critical in response to high K intake-stimulated K+ secretion in the collecting tubule.
Title: Romk1 Knockout Mice Do Not Produce Bartter Phenotype but Exhibit Impaired K Excretion.
Lovastatin stimulates ROMK1 channels by inducing PI(4,5)P2 synthesis, suggesting that the drug could reduce cyclosporine-induced nephropathy.
Title: Lovastatin-Induced Phosphatidylinositol-4-Phosphate 5-Kinase Diffusion from Microvilli Stimulates ROMK Channels.
ROMK1 protein abundance and activity are down-regulated by SPAK and OSR1
Title: SPAK and OSR1 dependent down-regulation of murine renal outer medullary K channel ROMK1.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP-activated inward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-activated inward rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
enables inward rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables peptide binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables potassium ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellular response to magnesium ion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within circulatory system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of G-protein activated inward rectifier potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within renal sodium ion absorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tissue homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ATP-sensitive inward rectifier potassium channel 1

Names: ATP-regulated potassium channel ROM-K; inward rectifier K(+) channel Kir1.1; inwardly rectifying potassium channel ROMK-2; potassium channel, inwardly rectifying subfamily J member 1

NCBI Reference Sequences (RefSeq)

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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)

NM_001168354.1 → NP_001161826.1 ATP-sensitive inward rectifier potassium channel 1 isoform 1

See identical proteins and their annotated locations for NP_001161826.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC132114

Consensus CDS

CCDS52751.1

UniProtKB/TrEMBL

G3UWE7

Related

ENSMUSP00000131625.2, ENSMUST00000172015.3

Conserved Domains (1) summary

pfam01007
Location:44 → 372

IRK; Inward rectifier potassium channel
NM_019659.3 → NP_062633.1 ATP-sensitive inward rectifier potassium channel 1 isoform 2

See identical proteins and their annotated locations for NP_062633.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC132114, CF168846

Consensus CDS

CCDS22953.1

UniProtKB/Swiss-Prot

O88335

Related

ENSMUSP00000046793.9, ENSMUST00000047334.10

Conserved Domains (2) summary

pfam01007
Location:24 → 166

IRK; Inward rectifier potassium channel

pfam17655
Location:173 → 345

IRK_C; Inward rectifier potassium channel C-terminal domain