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KCNJ1 Gene

protein-coding GIFtS: 63

GC11M128213

potassium inwardly-rectifying channel, subfamily J, member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
KIR1.1 ^²
Kir1.1 ^¹, ³
OTTHUMP00000045938 ^²
ROMK ^²
ROMK1 ^¹, ², ³, ⁵

Descriptions
ATP-regulated potassium channel ROM-K ^², ³
ATP-sensitive inward rectifier potassium channel 1 ^²
Potassium channel, inwardly rectifying subfamily J member 1 ^³
inwardly rectifying K+ channel ^²
potassium inwardly-rectifying channel J1 ^²
potassium inwardly-rectifying channel, subfamily J, member 1 ^²

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

Search outside databases for aliases for KCNJ1 gene

Previous GC identifers: GC11M130709 GC11M130220 GC11M128741 GC11M128245

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

EntrezGene 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]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the KCNJ1 gene

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)

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M128213: (about GC identifiers)

Start:	128,213,125 bp from pter
End:	128,242,478 bp from pter
Size:	29,354 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000011.8 NT_033899.7

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: IRK1_HUMAN, P48048 (See protein sequence)

Recommended Name: ATP-sensitive inward rectifier potassium channel 1

Size: 391 amino acids; 44795 Da

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: Q6LD67

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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (5 alternative transcripts):

NP_000211.1 NP_722448.1 NP_722449.2 NP_722450.1 NP_722451.1

ENSEMBL proteins:

ENSP00000316136 ENSP00000316233 ENSP00000376434 ENSP00000376433 ENSP00000376432

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (KCNJ1)
	Human Recombinant Proteins from Abnova (KCNJ1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008076	voltage-gated potassium channel complex	TAS	9015377
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

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Antibodies for KCNJ1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of KCNJ1
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (KCNJ1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (KCNJ1)
	Novus Biologicals Antibody for KCNJ1

Assays for KCNJ1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KCNJ1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (KCNJ1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_153764

Applied Biosystems Silencer® siRNAs for KCNJ1

Sigma-Aldrich siRNA and siRNA Panels for KCNJ1

Sigma-Aldrich shRNA Panels and shRNA for KCNJ1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for KCNJ1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_000220
Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_000220
untagged cDNA clones in CMV expression vector (see all 5): NM_000220

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000220

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

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

8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Kcnj1):

	behavior/neurological	growth/size	hematopoietic system	homeostasis/metabolism
lethality-postnatal	renal/urinary system	skin/coat/nails

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005242	inward rectifier potassium channel activity	TAS	9015377
GO:0005244	voltage-gated ion channel activity	IEA	--
GO:0005524	ATP binding	IEA	--
GO:0030955	potassium ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Gene Network Central^TM Interacting Genes and Proteins Network for KCNJ1

5/66 Interacting proteins for KCNJ1 (ENSP00000316136³) via UniProtKB, MINT, and/or STRING (see all 66 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SGK1	ENSP00000356832³	STRING (score=.992)
WNK4	ENSP00000246914³	STRING (score=.992)
SLC9A3R2	ENSP00000191922³	STRING (score=.98)
KCNA3	ENSP00000358784³	STRING (score=.972)
KCNQ1	ENSP00000370153³	STRING (score=.971)

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	IEA	--
GO:0006813	potassium ion transport	TAS	9015377
GO:0007588	excretion	TAS	9015377

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for KCNJ1:

Blocker Opener Inhibitor Ligand

Compounds for KCNJ1 available from Tocris Bioscience

Compound	Action	CAS number
Tenidap	NSAID, cyclooxygenase (COX-1) inhibitor. Also opener of KIR2.3	[120210-48-2]
Chromanol 293B	IKs blocker. Also blocks ICFTR	[163163-23-3]
PNU 37883 hydrochloride	Vascular KATP channel blocker	[57568-80-6]
Diazoxide	Blocks desensitization of AMPA receptors	[364-98-7]
(-)-[3R,4S]-Chromanol 293B	IKs blocker. Enantiomer of (Cat. No. 1412)	[163163-24-4]

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10 Novoseek chemical compound relationships for KCNJ1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
potassium	75.76	65	12547773 (4), 10793021 (2), 9002665 (2), 8861938 (1) (see all 35)
chloride	58.11	7	17872384 (1), 12920401 (1), 10561751 (1), 19096086 (1)
lysine	52.47	7	15767585 (3), 8861938 (1)
nacl	51.49	8	12684516 (1), 15998707 (1), 15283766 (1), 14604981 (1) (see all 6)
katp	46.83	5	15980413 (2), 9261988 (2), 12381730 (1)
pip2	41.31	4	10318968 (3)
sodium	32.98	4	9261995 (1), 16785747 (1), 15987778 (1)
atp	24.94	13	12381730 (4), 8710944 (2), 8770158 (2), 9707637 (1) (see all 6)
magnesium	6.84	1	7915826 (1)
tyrosine	0.00	11	11719519 (4), 15772303 (1)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KCNJ1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (KCNJ1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_153764

Sigma-Aldrich siRNA and siRNA Panels for KCNJ1

Sigma-Aldrich shRNA Panels and shRNA for KCNJ1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000220 NM_153764 NM_153765 NM_153766 NM_153767

REFSEQ mRNAs for KCNJ1 gene (5 alternative transcripts):

NM_000220.2 NM_153764.1 NM_153765.1 NM_153766.1 NM_153767.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000220 NM_153764 NM_153765 NM_153766 NM_153767

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_000220
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_000220
                                 untagged cDNA clones in CMV expression vector (see all 5): NM_000220

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 ):

AW204788 NM_153765 NM_153766 AI580376 AI474674 NM_153764 BC074752 NM_000220

BX111481 AA741359 AW611523 AI478535 U12544 NM_153767 U03884 BC063109

AW271549 AW611934 BV204251 AW271978 BF434553 AW301626 U12543 U12541

highest scoring ESTs for KCNJ1:

U03884 BC063109 BG426763 BG433987 U12542 U12543 U12544 U12545 AA741359 AI474674

Unigene Cluster for KCNJ1:

Potassium inwardly-rectifying channel, subfamily J, member 1

Hs.527830 [show with all ESTs]

Unigene Representative Sequence: BC063109

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for KCNJ1

5 Ensembl transcripts including schematic representations:

ENST00000324003 ENST00000324036 ENST00000392666 ENST00000392665 ENST00000392664

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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KCNJ1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for KCNJ1

¹ / ² / ³

5 probe-sets matching KCNJ1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36327_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	U03884	1.00	1.00	1.00	1
210402_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U03884	1.00	1.00	1.00	1
210403_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U12543	0.80	1.00	0.91	1
210402_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210403_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks KCNJ1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGTTCCTCCA

SOURCE GeneReport for Unigene cluster: Hs.527830
Expression variation in blood from EXPOLDB for KCNJ1
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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for KCNJ1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	KCNJ1¹	--	potassium inwardly-rectifying channel, subfamily J, more	91.56(n) 95.25(a)	489285 XM_546403.2 XP_546403.2
chimpanzee (Pan troglodytes)	KCNJ1¹	--	potassium inwardly-rectifying channel, subfamily J, more	99.4(n) 98.72(a)	466846 XM_522246.2 XP_522246.2
cow (Bos taurus)	KCNJ1¹	--	potassium inwardly-rectifying channel, subfamily J, more	90.05(n) 95.43(a)	539250 XM_585917.3 XP_585917.2
rat (Rattus norvegicus)	Kcnj1¹	--	potassium inwardly-rectifying channel, subfamily J, more	86.02(n) 91.05(a)	24521 NM_017023.1 NP_058719.1
mouse (Mus musculus)	Kcnj1^{1, 5}	9⁵	potassium inwardly-rectifying channel, subfamily J, more^{1, 5}	87.99(n)¹ 92.74(a)¹	56379¹ NM_019659.2¹ NP_062633.1¹ AF012834⁵ AK085262⁵ (see all 6)

About this table Species with no ortholog for KCNJ1

ENSEMBL Gene Tree for KCNJ1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for KCNJ1 gene

KCNJ16² KCNJ8² KCNJ11²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/193 NCBI SNPs in KCNJ1 are shown (see all 193 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 114)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs6590353^1,2	A,C,F,H	128217901(+)	`TAACAA/GCTGGC`	5	--	int¹ ng3¹		8	EU EA WA	838
	rs675759^1,2	A,C,F,H	128213185(-)	`CAAAGC/GTGCTT`	5	--	ut3¹ ese³		18	NS MN EU EA WA	1550
	rs1231254^1,2	A,C,F,H	128214157(-)	`AGTCAA/TCAATT`	5	--	ut3¹		9	MN EU EA WA	1008
--	rs1148059^1,2	A,C,F,H	128219054(-)	`tcctgG/Tcattc`	5	--	int¹ ng3¹		5	MN WA NA	430
	rs2855790^1,2	A,C,F,H	128242398(-)	`TCACCC/TAGCAT`	4	--	ut5¹ ese³		4	EU EA WA	420
	rs675388^1,2	A,C,F,H	128213219(-)	`CATTCC/TGAATG`	5	--	ut3¹		9	NS EU EA WA	522
	rs1148058^1,2	C,F,H	128217991(+)	`AAGATG/ACAGGT`	5	--	ng3¹ int¹		12	EA NA EU WA	2408
	rs668393^1,2	A,C,F	128217816(-)	`ATCCAT/CGCCTG`	5	--	ng3¹ int¹		5	EA NA	1626
--	rs2040361^1,2	F,H	128218649(-)	`GCACAA/GGCACA`	5	--	int¹ ng3¹		3	EA WA	268
	rs34191956^1,2	C,F	128217507(+)	`ATTCCG/AACTGG`	5	W/R	mis¹ int¹		5	NA EU EA WA	498

About this table

HapMap Linkage Disequilibrium images for KCNJ1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 600359 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

10/15 Novoseek disease relationships for KCNJ1 gene (see all 15 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
bartters syndrome	95.83	42	12589089 (3), 9848791 (3), 10878442 (2), 17401586 (2) (see all 27)
hyperprostaglandin e syndrome	95.66	6	11318951 (1), 9587066 (1), 12911542 (1), 15895241 (1) (see all 5)
bartter syndrome, classic	93.87	1	15056980 (1)
gitelman syndrome	91.30	3	15980941 (1), 12911530 (1), 15056980 (1)
pseudohypoaldosteronism	90.07	2	17401586 (1), 12589089 (1)
metabolic alkalosis	82.73	1	9261995 (1)
nephrocalcinosis	81.65	3	19096086 (2), 9519207 (1)
hypercalciuria	81.59	1	9519207 (1)
hyperkalemia	76.34	6	12640382 (2), 12589089 (2), 19096086 (2)
hypovolemia	59.98	1	12130653 (1)

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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 Gene Mutation Database: KCNJ1
Human Genome Epidemiology Navigator: KCNJ1 (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/112 PubMed articles for KCNJ1 gene (see all 112 ):

Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA. (PubMed id 8190102)^{1, 2, 3, 4} Yano H....Takeda J. (1994)
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. (PubMed id 8841184)^{1, 3, 4} 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, 3, 4} 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, 3, 4} Derst C.... Karschin A. (1998)
International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)^{2, 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)^{3, 4} Gerhard D.S....Malek J. (2004)
Nucleotide sequence analysis of the human KCNJ1 potassium channel locus. (PubMed id 9099852)^{3, 4} Bock J.H....Slightom J.L. (1997)
Isolation and chromosomal localization of a human ATP-regulated potassium channel. (PubMed id 7635463)^{3, 4} Krishnan S.N.... Haddad G.G. (1995)
Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. (PubMed id 7929082)^{3, 4} Shuck M.E.... Bienkowski M.J. (1994)
Cloning and expression of an inwardly rectifying ATP-regulated potassium channel. (PubMed id 7680431)^{2, 3} Ho K....Hebert S.C. (1993)

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

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=KCNJ1

Licensable Technologies for KCNJ1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for KCNJ1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for KCNJ1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for KCNJ1		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for KCNJ1		Small molecules for KCNJ1
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (KCNJ1)
	Antibodies (KCNJ1)
	Chimera RNAi (KCNJ1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (KCNJ1)
	Antibodies (KCNJ1)

Search OriGene for KCNJ1

Tocris compounds for KCNJ1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for KCNJ1

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
KCNJ1 Gene at Home site.
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KCNJ1 Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for KCNJ1

Summaries
for KCNJ1

Genomic Location
for KCNJ1

Proteins
for KCNJ1

Protein Domains/
Families
for KCNJ1

Gene Function
for KCNJ1

Pathways & Interactions
for KCNJ1

Drugs & Compounds
for KCNJ1

Transcripts
for KCNJ1

Expression
for KCNJ1

Orthologs
for KCNJ1

Paralogs
for KCNJ1

SNPs/Variants
for KCNJ1

Disorders & Mutations
for KCNJ1

Medical News
for KCNJ1

Publications
for KCNJ1

Search for KCNJ1

Genome Databases showing KCNJ1

Other Databases showing KCNJ1

Specialized Databases showing KCNJ1

Licensable Technologies
for KCNJ1

Services
for KCNJ1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

KCNJ1 Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor KCNJ1

Summariesfor KCNJ1

Genomic Locationfor KCNJ1

Proteinsfor KCNJ1

Protein Domains/Familiesfor KCNJ1

Gene Functionfor KCNJ1

Pathways & Interactionsfor KCNJ1

Drugs & Compoundsfor KCNJ1

Transcriptsfor KCNJ1

Expression for KCNJ1

Orthologsfor KCNJ1

Paralogsfor KCNJ1

SNPs/Variantsfor KCNJ1

Disorders & Mutationsfor KCNJ1

Medical Newsfor KCNJ1

Publicationsfor KCNJ1

Search for KCNJ1

Genome Databases showing KCNJ1

Other Databases showing KCNJ1

Specialized Databases showing KCNJ1

Licensable Technologiesfor KCNJ1

Servicesfor KCNJ1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for KCNJ1

Summaries
for KCNJ1

Genomic Location
for KCNJ1

Proteins
for KCNJ1

Protein Domains/
Families
for KCNJ1

Gene Function
for KCNJ1

Pathways & Interactions
for KCNJ1

Drugs & Compounds
for KCNJ1

Transcripts
for KCNJ1

Expression
for KCNJ1

Orthologs
for KCNJ1

Paralogs
for KCNJ1

SNPs/Variants
for KCNJ1

Disorders & Mutations
for KCNJ1

Medical News
for KCNJ1

Publications
for KCNJ1

Licensable Technologies
for KCNJ1

Services
for KCNJ1