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

Gene ID: 56379, updated on 8-Dec-2022

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
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Genomic context

See Kcnj1 in Genome Data Viewer
Location:
9; 9 A4
Exon count:
3
Annotation release Status Assembly Chr Location
109 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_000075.7Genomic Context describing neighboring genes Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 5 Neighboring gene predicted gene, 39317 Neighboring gene predicted gene, 31755 Neighboring gene Friend leukemia integration 1 Neighboring gene predicted gene, 22060 Neighboring gene predicted gene, 31871

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

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
PubMed 
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
 
enables voltage-gated monoatomic ion channel activity IEA
Inferred from Electronic Annotation
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 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
PubMed 
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
PubMed 
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
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

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)

  1. NM_001168354.1NP_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:44372
    IRK; Inward rectifier potassium channel
  2. NM_019659.3NP_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
    UniProtKB/TrEMBL
    A0A6P5QGD8
    Related
    ENSMUSP00000046793.9, ENSMUST00000047334.10
    Conserved Domains (2) summary
    pfam01007
    Location:24166
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:173345
    IRK_C; Inward rectifier potassium channel C-terminal domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    32283714..32310493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)