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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:32283789-32310493 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 17.69 cM
Strain
Comparison
more
  • SNPs within 2kb
    889 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927248
 protein coding gene Chr9:32283714-32310493 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034524
 protein coding gene Chr9:30121971-30149473 (+)
A/J MGP_AJ_G0034502
 protein coding gene Chr9:29345142-29371873 (+)
AKR/J MGP_AKRJ_G0034428
 protein coding gene Chr9:29983617-30010344 (+)
BALB/cJ MGP_BALBcJ_G0034493
 protein coding gene Chr9:29238018-29265254 (+)
C3H/HeJ MGP_C3HHeJ_G0034205
 protein coding gene Chr9:30329307-30356044 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035014
 protein coding gene Chr9:31143132-31170931 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031944
 protein coding gene Chr9:28140539-28167824 (+)
CAST/EiJ MGP_CASTEiJ_G0033528
 protein coding gene Chr9:30189353-30219904 (+)
CBA/J MGP_CBAJ_G0034179
 protein coding gene Chr9:32183834-32213137 (+)
DBA/2J MGP_DBA2J_G0034336
 protein coding gene Chr9:29354195-29382401 (+)
FVB/NJ MGP_FVBNJ_G0034279
 protein coding gene Chr9:28760582-28787282 (+)
LP/J MGP_LPJ_G0034422
 protein coding gene Chr9:30333593-30362308 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034323
 protein coding gene Chr9:33798932-33826460 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035034
 protein coding gene Chr9:29973556-30000964 (+)
PWK/PhJ MGP_PWKPhJ_G0033233
 protein coding gene Chr9:29311880-29338924 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033068
 protein coding gene Chr9:30076434-30106680 (+)
WSB/EiJ MGP_WSBEiJ_G0033643
 protein coding gene Chr9:29723425-29750141 (+)



Homology
more
  • Human Ortholog
    KCNJ1, potassium inwardly rectifying channel subfamily J member 1
  • Vertebrate Orthologs
    9
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNJ1, potassium inwardly rectifying channel subfamily J member 1
  • Synonyms
    KIR1.1, ROMK, ROMK1
  • Links
    NCBI Gene ID: 3758
    neXtProt AC: NX_P48048
    UniProt: P48048

  • Chr Location
    11q24.3; chr11:128836315-128867373 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Kcnj1 mouse models; 1 with human KCNJ1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    1 images
    18 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
less
  • All GO Annotations
    28
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    781
  • Tissues
    75
  • cDNA Data
    16
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041248 Ensembl Gene Model | MGI Sequence Detail 26705 C57BL/6J ±  kb
    transcript ENSMUST00000172015 Ensembl | MGI Sequence Detail 3075 Not Applicable  
    polypeptide ENSMUSP00000131625 Ensembl | MGI Sequence Detail 392 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000001978 ATP-sensitive inward rectifier potassium channel 1
      (term hierarchy)
    • InterPro Domains
      IPR003268 FPotassium channel, inwardly rectifying, Kir1.1
      IPR014756 Immunoglobulin E-set
      IPR041647 Inward rectifier potassium channel, C-terminal
      IPR016449 Potassium channel, inwardly rectifying, Kir
      IPR013518 Potassium channel, inwardly rectifying, Kir, cytoplasmic
      IPR040445 Potassium channel, inwardly rectifying, transmembrane domain
    • GlyGen
      O88335 1 site
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 16
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 10
      Phenotypes 18
    • Earliest
      J:117427 Boim MA, et al., ROMK inwardly rectifying ATP-sensitive K+ channel. II. Cloning and distribution of alternative forms. Am J Physiol. 1995 Jun;268(6 Pt 2):F1132-40
    • Latest
      J:306107 Niborski LL, et al., Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model. Dis Model Mech. 2021 May 1;14(5):dmm047498
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory