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Kcnj1 Gene Detail
Summary
  • Symbol
    Kcnj1
  • Name
    potassium inwardly-rectifying channel, subfamily J, member 1
  • Synonyms
    Kir1.1, ROMK, ROMK-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927248
    NCBI Gene: 56379
  • Gene Overview
    MyGene.info: KCNJ1
Location & Maps
more
  • Sequence Map
    Chr9:32372418-32399192 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      26775 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 17.69 cM
Homology
more
  • Human Ortholog
    KCNJ1, potassium voltage-gated channel subfamily J member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KCNJ1, potassium voltage-gated channel subfamily J member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    KIR1.1, ROMK, ROMK1
  • Links
    NCBI Gene ID: 3758
    neXtProt AC: NX_P48048

  • Chr Location
    11q24; chr11:128838014-128867373 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Kcnj1 mouse models; 1 with human KCNJ1 associations

Human Disease Mouse Models
       Bartter Syndrome, Type 2, Antenatal; BARTS2   OMIM: 241200 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    1 images
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    341 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000001978 ATP-sensitive inward rectifier potassium channel 1
  • InterPro Domains
    IPR014756 Immunoglobulin E-set
    IPR016449 Potassium channel, inwardly rectifying, Kir
    IPR003268 Potassium channel, inwardly rectifying, Kir1.1
    IPR013518 Potassium channel, inwardly rectifying, Kir, cytoplasmic
Molecular
Reagents
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  • All nucleic 16
    cDNA 15
    Primer pair 1

    Microarray probesets 4
References
more
  • Summaries
    All 40
    Developmental Gene Expression 5
    Diseases 2
    Gene Ontology 7
    Phenotypes 12
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory