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 Type	Results
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 Model	ENSMUSG00000041248 (Evidence)
Entrez Gene	56379 (Evidence)
UniGene	390168
DFCI	TC1585425, TC1625093
DoTS	DT.101722314, DT.87068148, DT.97347301
NIA Mouse Gene Index	U010226
Consensus CDS Project	CCDS22953.1, CCDS52751.1
International Mouse Knockout Project Status	Kcnj1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000041248	Ensembl Gene Model | MGI Sequence Detail	26775	C57BL/6J
transcript	ENSMUST00000172015	Ensembl | MGI Sequence Detail	3070	Not Applicable
polypeptide	ENSMUSP00000131625	Ensembl | MGI Sequence Detail	392	Not Applicable

All sequences(22) RefSeq(4) UniProt(2)

Polymorphisms

SNPs(53 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)