Human Gene KCNJ1 (uc001qeo.2) Description and Page Index
  Description: Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant 1, mRNA.
RefSeq Summary (NM_000220): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:128,707,909-128,712,429 Size: 4,521 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr11:128,709,020-128,712,312 Size: 3,293 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:128,707,909-128,712,429)mRNA (may differ from genome)Protein (391 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDHuman Cortex Gene ExpressionLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: IRK1_HUMAN
DESCRIPTION: RecName: Full=ATP-sensitive inward rectifier potassium channel 1; AltName: Full=ATP-regulated potassium channel ROM-K; AltName: Full=Inward rectifier K(+) channel Kir1.1; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 1;
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.
ENZYME REGULATION: Inhibited by WNK3.
SUBUNIT: Interacts with SGK1 and SLC9A3R2/NHERF2.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Note=Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.
TISSUE SPECIFICITY: In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver.
PTM: Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.
DISEASE: Defects in KCNJ1 are the cause of Bartter syndrome type 2 (BS2) [MIM:241200]; also termed hyperprostanglandin E syndrome 2. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS2 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of BS2 is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
SIMILARITY: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNJ1";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KCNJ1
CDC HuGE Published Literature: KCNJ1
Positive Disease Associations: Blood Pressure , Body Height , Hematocrit , Hemoglobins
Related Studies:
  1. Blood Pressure
    , , . [PubMed 0]
  2. Body Height
    , , . [PubMed 0]
  3. Hematocrit
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: KCNJ1
Diseases sorted by gene-association score: bartter syndrome, type 2* (1328), antenatal bartter syndrome* (379), bartter disease (39), gitelman syndrome (18), bartter syndrome, type 3 (16), hypokalemia (15), polyhydramnios (13), pseudohypoaldosteronism (12), nephrocalcinosis (12), pseudohyperkalemia, familial, 2, due to red cell leak (8), renal tubular transport disease (8), hypercalciuria, absorptive (7), leber congenital amaurosis 16 (7), mineral metabolism disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.55 RPKM in Kidney - Cortex
Total median expression: 36.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.20117-0.207 Picture PostScript Text
3' UTR -293.911111-0.265 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR014756 - Ig_E-set
IPR016449 - K_chnl_inward-rec_Kir
IPR003268 - K_chnl_inward-rec_Kir1.1
IPR013518 - K_chnl_inward-rec_Kir_cyto

Pfam Domains:
PF01007 - Inward rectifier potassium channel

SCOP Domains:
81296 - E set domains
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on P48048
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005242 inward rectifier potassium channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005524 ATP binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0015272 ATP-activated inward rectifier potassium channel activity

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007588 excretion
GO:0010107 potassium ion import
GO:0034765 regulation of ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC063109 - Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1, mRNA (cDNA clone IMAGE:4593616).
U03884 - Human inwardly rectifying K+ channel (ROMK1) mRNA, complete cds.
E10521 - cDNA encoding human kidney ATP-regulated potassium channel protein.
E10523 - cDNA encoding human kidney ATP-regulated potassium channel protein.
E10520 - cDNA encoding human kidney ATP-regulated potassium channel protein.
E10522 - cDNA encoding human kidney ATP-regulated potassium channel protein.
U12543 - Human ROM-K potassium channel protein isoform romk3 mRNA, complete cds.
U12542 - Human ROM-K potassium channel protein isoform romk2 mRNA, complete cds.
AK308032 - Homo sapiens cDNA, FLJ97980.
AK308033 - Homo sapiens cDNA, FLJ97981.
U12544 - Human ROM-K potassium channel protein isoform romk4 mRNA, partial cds.
U12545 - Human ROM-K potassium channel protein isoform romk5 mRNA, partial cds.
JD545464 - Sequence 526488 from Patent EP1572962.
JD062889 - Sequence 43913 from Patent EP1572962.
JD045958 - Sequence 26982 from Patent EP1572962.
JD438065 - Sequence 419089 from Patent EP1572962.
E10524 - cDNA encoding human kidney ATP-regulated potassium channel protein.
U12541 - Human ROM-K potassium channel protein isoform romk1 mRNA, complete cds.
JD139703 - Sequence 120727 from Patent EP1572962.
BC136361 - Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1, mRNA (cDNA clone MGC:167971 IMAGE:9020348), complete cds.
BC136360 - Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1, mRNA (cDNA clone MGC:167970 IMAGE:9020347), complete cds.
AK290797 - Homo sapiens cDNA FLJ76032 complete cds, highly similar to Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.
BC074752 - Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1, mRNA (cDNA clone MGC:103829 IMAGE:30915211), complete cds.
AK314267 - Homo sapiens cDNA, FLJ95019.
KJ891500 - Synthetic construct Homo sapiens clone ccsbBroadEn_00894 KCNJ1 gene, encodes complete protein.
KR712072 - Synthetic construct Homo sapiens clone CCSBHm_00035357 KCNJ1 (KCNJ1) mRNA, encodes complete protein.
KR712073 - Synthetic construct Homo sapiens clone CCSBHm_00035372 KCNJ1 (KCNJ1) mRNA, encodes complete protein.
KR712074 - Synthetic construct Homo sapiens clone CCSBHm_00035380 KCNJ1 (KCNJ1) mRNA, encodes complete protein.
KR712075 - Synthetic construct Homo sapiens clone CCSBHm_00035386 KCNJ1 (KCNJ1) mRNA, encodes complete protein.
S78737 - ATP-regulated potassium channel [human, brain, mRNA Partial, 306 nt].
JD488730 - Sequence 469754 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04960 - Aldosterone-regulated sodium reabsorption

Reactome (by CSHL, EBI, and GO)

Protein P48048 (Reactome details) participates in the following event(s):

R-HSA-1296045 Activation of Potassium transport channels
R-HSA-1296067 Potassium transport channels
R-HSA-1296065 Inwardly rectifying K+ channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: B2RMR4, IRK1_HUMAN, NM_000220, NP_722451, P48048, Q6LD67, ROMK1, uc001qeo.1
UCSC ID: uc001qeo.2
RefSeq Accession: NM_000220
Protein: P48048 (aka IRK1_HUMAN)
CCDS: CCDS8476.1, CCDS8477.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000220.4
exon count: 2CDS single in 3' UTR: no RNA size: 2409
ORF size: 1176CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2552.00frame shift in genome: no % Coverage: 99.79
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.