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Aliases for KCNJ1 Gene

Aliases for KCNJ1 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 1 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 1 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 1 3 4
  • ATP-Regulated Potassium Channel ROM-K 3 4
  • Inward Rectifier K(+) Channel Kir1.1 3 4
  • ROMK1 3 4
  • Inwardly Rectifying K+ Channel 3
  • KIR1.1 3
  • ROMK 3

External Ids for KCNJ1 Gene

Previous GeneCards Identifiers for KCNJ1 Gene

  • GC11M130709
  • GC11M130220
  • GC11M128245
  • GC11M128213
  • GC11M124655
  • GC11M128706

Summaries for KCNJ1 Gene

Entrez Gene Summary for KCNJ1 Gene

  • Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNJ1 Gene

KCNJ1 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 1) is a Protein Coding gene. Diseases associated with KCNJ1 include antenatal bartter syndrome and bartter disease. Among its related pathways are Diuretics Pathway, Pharmacodynamics and Transmission across Chemical Synapses. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and ATP-activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ3.

UniProtKB/Swiss-Prot for KCNJ1 Gene

  • In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium

Tocris Summary for KCNJ1 Gene

  • The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (Kir2.x), the G-protein-activated inward-rectifier channels (Kir3.x) and the ATP-sensitive channels (Kir6.x), which combine with sulphonylurea receptors.

Gene Wiki entry for KCNJ1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ1 Gene

Genomics for KCNJ1 Gene

Regulatory Elements for KCNJ1 Gene

Genomic Location for KCNJ1 Gene

Chromosome:
11
Start:
128,836,315 bp from pter
End:
128,867,373 bp from pter
Size:
31,059 bases
Orientation:
Minus strand

Genomic View for KCNJ1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNJ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ1 Gene

Proteins for KCNJ1 Gene

  • Protein details for KCNJ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48048-KCNJ1_HUMAN
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 1
    Protein Accession:
    P48048
    Secondary Accessions:
    • B2RMR4
    • Q6LD67

    Protein attributes for KCNJ1 Gene

    Size:
    391 amino acids
    Molecular mass:
    44795 Da
    Quaternary structure:
    • Interacts with SGK1 and SLC9A3R2/NHERF2.

    Alternative splice isoforms for KCNJ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNJ1 Gene

Proteomics data for KCNJ1 Gene at MOPED

Post-translational modifications for KCNJ1 Gene

  • Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.
  • Glycosylation at Asn 117
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for KCNJ1 Gene

Domains & Families for KCNJ1 Gene

Suggested Antigen Peptide Sequences for KCNJ1 Gene

Graphical View of Domain Structure for InterPro Entry

P48048

UniProtKB/Swiss-Prot:

KCNJ1_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily.
genes like me logo Genes that share domains with KCNJ1: view

Function for KCNJ1 Gene

Molecular function for KCNJ1 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 1,ATP-regulated,expressed in the kidney in the apical membrane thick ascending limb of the loop of Henle regulating SLC12A1 functioning
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by WNK3.
UniProtKB/Swiss-Prot Function:
In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium

Gene Ontology (GO) - Molecular Function for KCNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity TAS 9015377
GO:0005524 ATP binding IEA --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 12086641
GO:0015272 ATP-activated inward rectifier potassium channel activity IBA --
genes like me logo Genes that share ontologies with KCNJ1: view
genes like me logo Genes that share phenotypes with KCNJ1: view

Animal Models for KCNJ1 Gene

MGI Knock Outs for KCNJ1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNJ1 Gene

Localization for KCNJ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ1 Gene

Cell membrane; Multi-pass membrane protein. Note=Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNJ1 Gene COMPARTMENTS Subcellular localization image for KCNJ1 gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0008076 voltage-gated potassium channel complex TAS 9015377
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with KCNJ1: view

Pathways & Interactions for KCNJ1 Gene

genes like me logo Genes that share pathways with KCNJ1: view

Pathways by source for KCNJ1 Gene

PCR Array Products

SIGNOR curated interactions for KCNJ1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for KCNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0001894 tissue homeostasis IEA --
GO:0006813 potassium ion transport TAS 9015377
GO:0007268 synaptic transmission TAS --
GO:0007588 excretion TAS 9015377
genes like me logo Genes that share ontologies with KCNJ1: view

Drugs & Compounds for KCNJ1 Gene

(28) Drugs for KCNJ1 Gene - From: NovoSeek, IUPHAR, DGIdb, HMDB, PharmGKB, DrugBank, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glyburide Approved Pharma Inhibition, Inhibitor, blocker, Target, inhibitor Kir6 (KATP) channel blocker 100
Minoxidil Approved Pharma Activator, Target, inducer Kir6 channel (KATP) opener 33
Glimepiride Approved Pharma blocker, Target, inhibitor Sulfonylurea compound 214
Glycodiazine Approved Pharma binder, Target, other/unknown 0
Tolazamide Approved Pharma blocker, Target, inhibitor 0

(6) Additional Compounds for KCNJ1 Gene - From: NovoSeek and Tocris

genes like me logo Genes that share compounds with KCNJ1: view

Transcripts for KCNJ1 Gene

Unigene Clusters for KCNJ1 Gene

Potassium inwardly-rectifying channel, subfamily J, member 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNJ1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f
SP1: - -
SP2: - - -
SP3: - - -
SP4: - -
SP5:
SP6: - - - -

Relevant External Links for KCNJ1 Gene

GeneLoc Exon Structure for
KCNJ1
ECgene alternative splicing isoforms for
KCNJ1

Expression for KCNJ1 Gene

mRNA expression in normal human tissues for KCNJ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ1 Gene

This gene is overexpressed in Kidney - Cortex (x39.8).

Protein differential expression in normal tissues from HIPED for KCNJ1 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNJ1 Gene



SOURCE GeneReport for Unigene cluster for KCNJ1 Gene Hs.527830

mRNA Expression by UniProt/SwissProt for KCNJ1 Gene

P48048-KCNJ1_HUMAN
Tissue specificity: In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver.
genes like me logo Genes that share expression patterns with KCNJ1: view

Protein tissue co-expression partners for KCNJ1 Gene

Primer Products

In Situ Assay Products

Orthologs for KCNJ1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNJ1 35
  • 90.05 (n)
  • 95.43 (a)
KCNJ1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ1 35
  • 91.67 (n)
  • 95.7 (a)
KCNJ1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj1 35
  • 86.79 (n)
  • 90.79 (a)
Kcnj1 16
Kcnj1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNJ1 35
  • 99.4 (n)
  • 98.72 (a)
KCNJ1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj1 35
  • 86.02 (n)
  • 91.05 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNJ1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ1 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNJ1 35
  • 79.69 (n)
  • 85.71 (a)
KCNJ1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj1 35
  • 72.76 (n)
  • 83.87 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnj1b 35
  • 60.64 (n)
  • 59.18 (a)
zgc63534 35
kcnj1a.1 36
  • 55 (a)
OneToMany
kcnj1a.2 36
  • 54 (a)
OneToMany
kcnj1a.3 36
  • 53 (a)
OneToMany
kcnj1a.4 36
  • 54 (a)
OneToMany
kcnj1a.5 36
  • 52 (a)
OneToMany
kcnj1a.6 36
  • 55 (a)
OneToMany
kcnj1b 36
  • 58 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.675 35
fruit fly
(Drosophila melanogaster)
Insecta Irk3 37
  • 33 (a)
Ir 36
  • 28 (a)
ManyToMany
Irk2 36
  • 32 (a)
ManyToMany
Species with no ortholog for KCNJ1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNJ1 Gene

ENSEMBL:
Gene Tree for KCNJ1 (if available)
TreeFam:
Gene Tree for KCNJ1 (if available)

Paralogs for KCNJ1 Gene

(16) SIMAP similar genes for KCNJ1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNJ1: view

Variants for KCNJ1 Gene

Sequence variations from dbSNP and Humsavar for KCNJ1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs581472 -- 128,850,536(-) ATTGC(C/T)CTCTC intron-variant
rs583352 -- 128,855,524(-) TTGCC(A/C)ACCTC intron-variant
rs592796 -- 128,858,718(-) GTCTA(C/T)GTCAC intron-variant
rs610155 -- 128,857,168(-) TAGAG(C/T)GGAGC intron-variant
rs619399 -- 128,845,226(+) GGAAA(A/C)AATGC intron-variant

Variation tolerance for KCNJ1 Gene

Residual Variation Intolerance Score: 59.59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNJ1 Gene

HapMap Linkage Disequilibrium report
KCNJ1
Human Gene Mutation Database (HGMD)
KCNJ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KCNJ1 Gene

Disorders for KCNJ1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for KCNJ1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
antenatal bartter syndrome
  • bartter syndrome, furosemide type
bartter disease
  • bartter's syndrome
bartter syndrome, type 2
  • bartter syndrome antenatal type 2
renal tubular transport disease
  • inborn renal tubular transport disorder
polyhydramnios
- elite association
Search KCNJ1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNJ1_HUMAN
  • Bartter syndrome 2 (BS2) [MIM:241200]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 2 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. {ECO:0000269 PubMed:8841184, ECO:0000269 PubMed:9002665, ECO:0000269 PubMed:9727001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for KCNJ1 Gene

Bartter syndrome characterized by an hypokalemic,hypochloremic metabolic alkalosis with hyperkaliury,hyperexcretion of prostaglandin E,hyperreninemia hyperaldosteronism with normal blood pressure,insensitivity to AGT2,and hyperplasia of juxtaglomerular apparatus,autosomal recessive. Presenting as an antenatal form with hydramnios prematurity and dehydration at birth and a classic form with failure to thrive

Relevant External Links for KCNJ1

Genetic Association Database (GAD)
KCNJ1
Human Genome Epidemiology (HuGE) Navigator
KCNJ1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ1
genes like me logo Genes that share disorders with KCNJ1: view

Publications for KCNJ1 Gene

  1. Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA. (PMID: 8190102) Yano H. … Takeda J. (Mol. Pharmacol. 1994) 2 23 67
  2. New roles for renal potassium channels. (PMID: 20091480) Wagner C.A. (J. Nephrol. 2010) 23 67
  3. Multigene kinase network, kidney transport, and salt in essential hypertension. (PMID: 20375989) Welling P.A. … Wade J.B. (Kidney Int. 2010) 23 67
  4. Neonatal diabetes mellitus: a model for personalized medicine. (PMID: 20434356) Greeley S.A. … Philipson L.H. (Trends Endocrinol. Metab. 2010) 25 26
  5. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. (PMID: 19096086) Brochard K. … Vargas-Poussou R. (Nephrol. Dial. Transplant. 2009) 23 67

Products for KCNJ1 Gene

Sources for KCNJ1 Gene

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