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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; 7 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; chr11:128707915-128737268 (-)  GRCh37.p10
Disease Associations  (1) Diseases Associated with Human KCNJ1
Alleles
and
phenotypes 		All alleles(5) : Targeted(5)
 
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)
Gene Ontology
(GO)
classifications 		All GO classifications: (23 annotations)
Process cardiovascular system development, ion transmembrane transport, ...
Component integral to membrane, membrane, ...
Function ATP-activated inward rectifier potassium channel activity, ATP binding, ...
External Resources: FuncBase
Expression Literature Summary: (4 records)
Data Summary: Results (2)    Tissues (2)   
Theiler Stages: 25, 28
Assay TypeResults
RT-PCR 2
cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents 		All nucleic(15) cDNA(14) 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(53 from dbSNP Build 128)
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:172408 Wade JB, et al., Differential regulation of ROMK (Kir1.1) in distal nephron segments by dietary potassium. Am J Physiol Renal Physiol. 2011 Jun;300(6):F1385-93
All references(40)
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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Send questions and comments to User Support. 		last database update
06/05/2013
MGI 5.13 		The Jackson Laboratory