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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCNJ1 Gene

protein-coding GIFtS: 65
GCID: GC11M128706

potassium inwardly-rectifying channel, subfamily J, member...

Explore 18 diseases affiliated with
KCNJ1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 1¹ ²		Kir1.1¹
ROMK1¹ ² ³ ⁵		KIR1.1²
Inward Rectifier K(+) Channel Kir1.1² ³		ROMK²
Potassium Channel, Inwardly Rectifying Subfamily J Member 1² ³		ATP-Sensitive Inward Rectifier Potassium Channel 1²
ATP-Regulated Potassium Channel ROM-K² ³		Inwardly Rectifying K+ Channel²

External Ids:	HGNC: 6255¹	Entrez Gene: 3758²	Ensembl: ENSG00000151704⁷	OMIM: 600359⁵	UniProtKB: P48048³

Export aliases for KCNJ1 gene to outside databases

Previous GC identifers: GC11M130709 GC11M130220 GC11M128741 GC11M128245 GC11M128213 GC11M124655

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNJ1:

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)

UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048

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

summary for KCNJ1:

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 (SUR)). Structurally, the

pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two

membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each

subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within

subfamilies, e.g. KIR3.2 with KIR3.3.

Gene Wiki entry for KCNJ1 (ROMK)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KCNJ1 gene promoter:
MZF-1 GR Pax-6 GR-beta IRF-1 GR-alpha C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNJ1 promoter sequence

Search SABiosciences Chromatin IP Primers for KCNJ1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q24 Ensembl cytogenetic band: 11q24.3 HGNC cytogenetic band: 11q24

KCNJ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M128706: view genomic region (about GC identifiers)

Start:	128,706,210 bp from pter	End:	128,737,268 bp from pter
Size:	31,059 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048 (See protein sequence)

Recommended Name: ATP-sensitive inward rectifier potassium channel 1

Size: 391 amino acids; 44795 Da

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

Secondary accessions: B2RMR4 Q6LD67

Alternative splicing: 3 isoforms: P48048-1 P48048-2 P48048-3

Explore the universe of human proteins at neXtProt for KCNJ1: NX_P48048

Post-translational modifications:

Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P48048

KCNJ1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_000211.1 NP_722448.1 NP_722449.3 NP_722450.1 NP_722451.1

ENSEMBL proteins:

ENSP00000376433 ENSP00000406320 ENSP00000316233 ENSP00000376432 ENSP00000316136

ENSP00000376434

Reactome Protein details: P48048
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	Uscn Proteins for KCNJ1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0008076	voltage-gated potassium channel complex	TAS	9015377

KCNJ1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KCNJ1 for domains About GeneDecksing

4 InterPro domains/families:

IPR003268 K_chnl_inward-rec_Kir1.1

IPR014756 Ig_E-set

IPR013518 K_chnl_inward-rec_Kir_cyto

IPR016449 K_chnl_inward-rec_Kir

Graphical View of Domain Structure for InterPro Entry P48048

ProtoNet protein and cluster: P48048

2 Blocks protein families:

IPB001838 Inward rectifier K+ channel superfamily signature

IPB003268 Kir1.1 inward rectifier K+ channel signature

UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048

Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048

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

Genatlas biochemistry entry for KCNJ1:

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

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005242	inward rectifier potassium channel activity	IEA	--
GO:0005524	ATP binding	IEA	--

KCNJ1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for KCNJ1:

Increased circadian period len

Animal Models:
Mouse knock-outs for KCNJ1: Kcnj1^tm1Ges Kcnj1^tm1Lex
8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Kcnj1):

behavior/neurological	cardiovascular system	growth/size	hematopoietic system	homeostasis/metabolism
integument	mortality/aging	renal/urinary system

KCNJ1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Potassium Channels

Potassium Channels

1.00

Potassium transport channels

Potassium transport channels

1.00

Diuretics Pathway, Pharmacodynamics

Diuretics Pathway, Pharmacodynamics

1.00

Potassium transporters: inward current

Potassium transporters: inward current

1.00

Dopamine-DARPP32 Feedback onto cAMP Pathway

Dopamine-DARPP32 Feedback onto cAMP Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for KCNJ1

Potassium transporters- inward current

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNJ1

Dopamine-DARPP32 Feedback onto cAMP Pathway

4 Reactome Pathways for KCNJ1

	Potassium Channels
	Potassium transport channels
	Neuronal System
	Inwardly rectifying K+ channels

1 PharmGKB Pathway for KCNJ1

Diuretics Pathway, Pharmacodynamics

2 Kegg Pathways (Kegg details for KCNJ1):

	Aldosterone-regulated sodium reabsorption
	Gastric acid secretion

KCNJ1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KCNJ1

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/10 Interacting proteins for KCNJ1 (P48048³ ENSP00000316136⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC9A3R1	O14745³, ENSP00000262613⁴	I2D: score=3 STRING: ENSP00000262613
CFTR	P13569³, ENSP00000003084⁴	I2D: score=1 STRING: ENSP00000003084
GOLGA3	Q08378³, ENSP00000204726⁴	I2D: score=1 STRING: ENSP00000204726
IL16	Q14005³, ENSP00000302935⁴	I2D: score=1 STRING: ENSP00000302935
PRKCD	Q05655³, ENSP00000331602⁴	I2D: score=1 STRING: ENSP00000331602

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

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

KCNJ1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KCNJ1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for KCNJ1 available from Tocris Bioscience About this table

Compound	Action	CAS #
VU 591 hydrochloride	Selective ROMK inhibitor	--
Tertiapin-Q	Selective blocker of inward-rectifier K+ channels	[252198-49-5]

2 HMDB Compounds for KCNJ1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Magnesium	Magnesium (see all 2)	7439-95-4	--
Potassium	K+ (see all 16)	7440-09-7	--

8 DrugBank Compounds for KCNJ1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Glycodiazine	Glidiazine (see all 2)	339-44-6	target	other/unknown	17139284 16263802 17016423 20434356 134717 17015627 16470247
Minoxidil	Minossidile [Italian] (see all 2)	38304-91-5	target	inducer	1601843 9579735 16169954 17139284 17016423 9646008 18602898
Glimepiride	Glimepirid (see all 4)	93479-97-1	target	inhibitor	12703060 17139284 17016423 12475777
Tolazamide	--	1156-19-0	target	inhibitor	10354277 17139284 8799949 17016423
Tolbutamide	--	64-77-7	target	inhibitor	9647478 10455193 11226127
Acetohexamide	--	968-81-0	target	inhibitor	17139284 17016423
Bethanidine	Betanidine (see all 2)	55-73-2	target	inhibitor	3167688 2157221
Glyburide	Apo-Glibenclamide (see all 4)	10238-21-8	target	inhibitor	16263802 16470247

10/14 Novoseek chemical compound relationships for KCNJ1 gene (see all 14) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
potassium	76.6	85	12547773 (4), 19710010 (3), 10793021 (2), 19458126 (2) (see all 41)
chloride	56.2	7	17872384 (1), 12920401 (1), 10561751 (1), 19096086 (1)
nacl	52.7	10	12684516 (1), 19587141 (1), 15998707 (1), 20375989 (1) (see all 8)
lysine	52.5	7	15767585 (3), 8861938 (1)
katp	44.9	5	15980413 (2), 9261988 (2), 12381730 (1)
sodium	40.6	5	9261995 (1), 16785747 (1), 15987778 (1), 19706730 (1)
pip2	39.6	4	10318968 (3)
biotin	27.7	5	11719519 (2), 12221079 (1), 15767585 (1)
atp	22.6	13	12381730 (4), 8710944 (2), 8770158 (2), 9707637 (1) (see all 6)
serine	9.87	7	12221079 (4), 8683463 (1)

Search CenterWatch for drugs/clinical trials and news about KCNJ1 / IRK1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KCNJ1 gene (5 alternative transcripts):

NM_000220.4 NM_153764.2 NM_153765.2 NM_153766.2 NM_153767.3

Unigene Cluster for KCNJ1:

Potassium inwardly-rectifying channel, subfamily J, member 1

Hs.527830 [show with all ESTs]

Unigene Representative Sequence: BC063109

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000392665 ENST00000440599(uc001qeq.1) ENST00000324036 ENST00000392664

ENST00000324003 ENST00000531562 ENST00000392666(uc001qeo.1 uc001qep.1 uc001qer.1 uc001qes.1)

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Additional cDNA sequence:

AK290797.1 AK308032.1 AK308033.1 AK314267.1 BC063109.1 BC074752.2 BC136360.1 BC136361.1

S78737.1 U03884.1 U12541.1 U12542.1 U12543.1 U12544.1 U12545.1

5 DOTS entries:

DT.92421395 DT.98131927 DT.92421389 DT.87046667 DT.95170907

24/45 AceView cDNA sequences (see all 45):

AI474674 AA741359 NM_153767 NM_153766 BX111481 U12544 AW204788 AI478535

AI580376 NM_000220 NM_153765 AW611523 NM_153764 BC074752 BC063109 U03884

BV199124 BF115032 U12541 BE466312 AI580319 AW271549 BF592103 BV204251

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ1 (see all 6) About this scheme

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

ECgene alternative splicing isoforms for KCNJ1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KCNJ1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTTCCTCCA

About this image

KCNJ1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Loop of Henle

Loop of Henle Cells

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KCNJ1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNJ1

SOURCE GeneReport for Unigene cluster: Hs.527830

UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048

Tissue specificity: In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain,

heart and liver

SABiosciences Expression via Pathway-Focused PCR Arrays including KCNJ1:

Neuronal Ion Channels in human mouse rat

Osmotic Stress in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KCNJ1 gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KCNJ1¹	potassium inwardly-rectifying channel, subfamily J, more	79.69(n) 85.71(a)		428236 XM_425795.2 XP_425795.2
lizard (Anolis carolinensis)	Reptilia	KCNJ1⁶	--	80(a)	1 ↔ 1	GL343197.1(4325581-4326765)
zebrafish (Danio rerio)	Actinopterygii	zgc63534²	similar to potassium inwardly-rectifying channel, subfamily more	74.03(n)		394010 AY394568.1
worm (Caenorhabditis elegans)	Secernentea	irk-3⁶	Inward Rectifying K (potassium) channel family mem...	29(a)	possible ortholog	X(14353239-14358995)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for KCNJ1 gene

KCNJ4² KCNJ9² KCNJ16² KCNJ8² KCNJ12² KCNJ15² KCNJ5² KCNJ6²

KCNJ2² KCNJ10² KCNJ14² KCNJ3² KCNJ11²

16 SIMAP similar genes for KCNJ1 using alignment to 1 protein entry: IRK1_HUMAN:

KCNJ15 KCNJ10 KCNJ3 KCNJ11 KCNJ5 KCNJ6

KCNJ12 KCNJ8 KCNJ18 KCNJ9 kcnj12x KCNJ14

KCNJ4 KCNJ16 KCNJ2 KCNJ13

KCNJ1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs59172778^1,2	C,F,	pathogenic	124656836(+)	`GGCACA/GTGGCA`	10	T M	mis¹		4		NA EU	7139
rs104894245^1,2	C	pathogenic	124657249(-)	`AAGAGC/GCTTCT`	10	S R	mis¹		0	--	--	--	--
rs104894253^1,2	C	pathogenic	124657314(-)	`AGAACA/GCAGTG`	10	T A	mis¹		0	--	--	--	--
rs104894254^1,2	C	pathogenic	124657406(-)	`ACTTGA/GAGTTA`	10	E G	mis¹		0	--	--	--	--
rs104894251^1,2	C	pathogenic	124657534(-)	`GAGAAA/TATTAA`	10	K N	mis¹		0	--	--	--	--
rs104894250^1,2	C	pathogenic	124657584(-)	`ACAAAC/GACCTC`	10	H D	mis¹		0	--	--	--	--
rs104894244^1,2	C	pathogenic	124657669(-)	`AGATAC/GAAAAT`	10	Y *	stg¹		0	--	--	--	--
rs58862180^1,2	F,	--	124655184(+)	`ATTGTG/AGTGCC`	5	--	ds500¹		1		WA	118
rs79284095^1,2	C,F,	--	124655266(+)	`GTGTGC/TAACCC`	5	--	ds500¹		1		WA	118
rs7117664^1,2	C,	--	124655929(+)	`TGGAGG/AAACAC`	5	--	ut3¹		1		CSA	2

HapMap Linkage Disequilibrium report for KCNJ1 (128706210 - 128737268 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KCNJ1: --
Human Gene Mutation Database (HGMD): KCNJ1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNJ1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KCNJ1 for disorders           About GeneDecksing

OMIM gene information: 600359
OMIM disorders: 241200
UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048

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

18 diseases for KCNJ1: About MalaCards

hypercalciuria bartter syndrome, type 2 pseudohypoaldosteronism type ii pseudohypoaldosteronism

gitelman syndrome nephrocalcinosis hypokalemia bartter disease

cystic fibrosis polyhydramnios hyperaldosteronism essential hypertension

nephrolithiasis fibrosis aldosteronism hypertension

pancreatitis neuronitis

7 diseases from the University of Copenhagen DISEASES database for KCNJ1:

Bartter disease Gitelman syndrome Pseudohypoaldosteronism Hypokalemia

Polyhydramnios Nephrocalcinosis Hyperaldosteronism

10/16 Novoseek disease relationships for KCNJ1 gene (see all 16) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bartters syndrome	95.7	45	12589089 (3), 9848791 (3), 10878442 (2), 17401586 (2) (see all 29)
hyperprostaglandin e syndrome	95.4	6	11318951 (1), 9587066 (1), 12911542 (1), 15895241 (1) (see all 5)
bartter syndrome, classic	93.2	1	15056980 (1)
gitelman syndrome	90.6	3	15980941 (1), 12911530 (1), 15056980 (1)
pseudohypoaldosteronism	90.6	3	17401586 (1), 12589089 (1), 19448535 (1)
metabolic alkalosis	81.6	1	9261995 (1)
nephrocalcinosis	80.5	3	19096086 (2), 9519207 (1)
hypercalciuria	80.5	1	9519207 (1)
hyperkalemia	78	10	12640382 (2), 12589089 (2), 19448535 (2), 19096086 (2) (see all 5)
hypokalemia	70.2	1	19448535 (1)

Genatlas disease: KCNJ1

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

Human Genome Epidemiology (HuGE) Navigator: KCNJ1 (7 documents)

Export disorders for KCNJ1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for KCNJ1 gene, integrated from 9 sources (see all 154):
(articles sorted by number of sources associating them with KCNJ1)

Utopia: connect your pdf to the dynamic
world of online information

Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA. (PubMed id 8190102)^{1, 2, 3, 9} Yano H.... Takeda J. (1994)
Cell surface expression of the ROMK (Kir 1.1) channel is regulated by the aldosterone-induced kinase, SGK-1, and protein kinase A. (PubMed id 12684516)^{1, 2, 9} Yoo D....Welling P.A. (2003)
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. (PubMed id 8841184)^{1, 2, 9} Simon D.B.... Lifton R.P. (1996)
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. (PubMed id 9002665)^{1, 2, 9} Karolyi L....Hebert S.C. (1997)
A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. (PubMed id 9727001)^{1, 2, 9} Derst C.... Karschin A. (1998)
International Union of Pharmacology. LIV. Nomenclatur e and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)^{1, 3} Kubo Y....Vandenberg C.A. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Nucleotide sequence analysis of the human KCNJ1 potassium channel locus. (PubMed id 9099852)^{1, 2} Bock J.H....Slightom J.L. (1997)
Isolation and chromosomal localization of a human ATP-regulated potassium channel. (PubMed id 7635463)^{1, 2} Krishnan S.N.... Haddad G.G. (1995)
Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. (PubMed id 7929082)^{1, 2} Shuck M.E.... Bienkowski M.J. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3758	HGNC: 6255	AceView: KCNJ1	Ensembl:ENSG00000151704	euGenes: HUgn3758
ECgene: KCNJ1	Kegg: 3758	H-InvDB: KCNJ1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KCNJ1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNJ1

Intellectual Property for KCNJ1 gene
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Patent Information for KCNJ1 gene:
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GeneCards and IP:
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