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Kcnj1
Gene Detail
 Symbol
Name
ID
Kcnj1
potassium inwardly-rectifying channel, subfamily J, member 1
MGI:1927248
Synonyms Kir1.1, ROMK, ROMK-2
Feature Type protein coding gene
Genetic Map
Chromosome 9
17.69 cM
Detailed Genetic Map ± 1 cM

Sequence Map
Chr9:32372418-32399192 bp, + strand
From Ensembl annotation of GRCm38

  26775 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56764  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: G protein-activated inward rectifier potassium channel
Gene Tree: Kcnj1

Human
homologs
Human Homolog KCNJ1, potassium inwardly-rectifying channel, subfamily J, member 1
NCBI Gene ID 3758
neXtProt AC  NX_P48048
Human Synonyms  KIR1.1, ROMK, ROMK1
Human Chr (Location)  11q24; chr11:128838014-128867373 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human KCNJ1
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Most homozygotes for a null mutation die before weaning with impaired electrolyte, acid-base, and fluid-volume homeostasis, reduced NaCl absorption in the thick ascending limb, and abnormal tubuloglomerular feedback. A colony of mutants with extended suvival serves as a model for Bartter's syndrome.
 
Human Diseases Modeled Using Mouse Kcnj1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Kcnj1 interacts with 235 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process cardiovascular system development, cellular response to magnesium ion, ...
Component integral component of membrane, membrane, ...
Function ATP-activated inward rectifier potassium channel activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (75)    Tissues (75)    Images (3)
Theiler Stages: 23, 25, 26, 27, 28
Assay TypeResults
RNA in situ 73
RT-PCR 2
cDNA source data(15)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(16) cDNA(15) Primer pair(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000041248 (Evidence)
Entrez Gene56379 (Evidence)
UniGene390168
DFCITC1585425, TC1625093
DoTSDT.101722314, DT.87068148, DT.97347301
NIA Mouse Gene IndexU010226
Consensus CDS ProjectCCDS22953.1, CCDS52751.1
International Mouse Knockout Project StatusKcnj1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000041248 Ensembl Gene Model | MGI Sequence Detail 26775 C57BL/6J ±  kb
transcript ENSMUST00000172015 Ensembl | MGI Sequence Detail 3070 Not Applicable 
polypeptide ENSMUSP00000131625 Ensembl | MGI Sequence Detail 392 Not Applicable 

For the selected sequences
All sequences(22) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(342 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR014756 Immunoglobulin E-set
InterPro IPR016449 Potassium channel, inwardly rectifying, Kir
InterPro IPR003268 Potassium channel, inwardly rectifying, Kir1.1
InterPro IPR013518 Potassium channel, inwardly rectifying, Kir, cytoplasmic
Protein Ontology PR:000001978 ATP-sensitive inward rectifier potassium channel 1
References (Earliest) J:79353 Lu M, et al., Absence of small conductance K+ channel (SK) activity in apical membranes of thick ascending limb and cortical collecting duct in ROMK (Bartter's) knockout mice. J Biol Chem. 2002 Oct 4;277(40):37881-7
(Latest) J:198739 Rossier BC, et al., Genetic dissection of sodium and potassium transport along the aldosterone-sensitive distal nephron: Importance in the control of blood pressure and hypertension. FEBS Lett. 2013 Jun 27;587(13):1929-41
All references(44)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory