Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3758
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium inwardly rectifying channel subfamily J member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNJ1
Synonyms (NCBI Gene) Gene synonyms aliases	KIR1.1, ROMK, ROMK1
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q24.3
Summary Summary of gene provided in NCBI Entrez 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 inter

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs59172778	A>G	Benign, pathogenic	Coding sequence variant, missense variant
rs104894244	G>A,C	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs104894245	G>C	Pathogenic	Missense variant, coding sequence variant
rs104894246	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs104894250	C>G	Pathogenic	Missense variant, coding sequence variant
rs104894251	A>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs104894253	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104894254	C>T	Pathogenic	Missense variant, coding sequence variant
rs185212943	T>A,C	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs201707868	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs377205432	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs746509804	G>T	Pathogenic	Stop gained, coding sequence variant
rs768286324	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs769554073	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(41)

miRTarBase ID	miRNA	Experiments	Reference
MIRT527653	hsa-miR-5195-5p	PAR-CLIP	22012620
MIRT527652	hsa-miR-5196-3p	PAR-CLIP	22012620
MIRT527651	hsa-miR-4793-5p	PAR-CLIP	22012620
MIRT527650	hsa-miR-5009-3p	PAR-CLIP	22012620
MIRT527649	hsa-miR-126-3p	PAR-CLIP	22012620
MIRT527647	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT527653	hsa-miR-5195-5p	PAR-CLIP	22012620
MIRT527652	hsa-miR-5196-3p	PAR-CLIP	22012620
MIRT527651	hsa-miR-4793-5p	PAR-CLIP	22012620
MIRT527650	hsa-miR-5009-3p	PAR-CLIP	22012620
MIRT527649	hsa-miR-126-3p	PAR-CLIP	22012620
MIRT527647	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT1081355	hsa-miR-1197	CLIP-seq
MIRT1081356	hsa-miR-1303	CLIP-seq
MIRT1081357	hsa-miR-1587	CLIP-seq
MIRT1081358	hsa-miR-1911	CLIP-seq
MIRT1081359	hsa-miR-3153	CLIP-seq
MIRT1081360	hsa-miR-3180-5p	CLIP-seq
MIRT1081361	hsa-miR-3617	CLIP-seq
MIRT1081362	hsa-miR-3655	CLIP-seq
MIRT1081363	hsa-miR-4270	CLIP-seq
MIRT1081364	hsa-miR-4328	CLIP-seq
MIRT1081365	hsa-miR-4436a	CLIP-seq
MIRT1081366	hsa-miR-4441	CLIP-seq
MIRT1081367	hsa-miR-4492	CLIP-seq
MIRT1081368	hsa-miR-4498	CLIP-seq
MIRT1081369	hsa-miR-4656	CLIP-seq
MIRT1081370	hsa-miR-4675	CLIP-seq
MIRT1081371	hsa-miR-4741	CLIP-seq
MIRT1081372	hsa-miR-509-3p	CLIP-seq
MIRT1081373	hsa-miR-578	CLIP-seq
MIRT1081374	hsa-miR-616	CLIP-seq
MIRT1081375	hsa-miR-641	CLIP-seq
MIRT1081376	hsa-miR-642b	CLIP-seq
MIRT1081377	hsa-miR-646	CLIP-seq
MIRT1081378	hsa-miR-665	CLIP-seq
MIRT1081379	hsa-miR-762	CLIP-seq
MIRT1081362	hsa-miR-3655	CLIP-seq
MIRT1081372	hsa-miR-509-3p	CLIP-seq
MIRT1081373	hsa-miR-578	CLIP-seq
MIRT1081374	hsa-miR-616	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IBA	21873635
GO:0005524	Function	ATP binding	ISS
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	12086641
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006813	Process	Potassium ion transport	TAS	9015377
GO:0007588	Process	Excretion	TAS	9015377
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	9015377
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	IBA	21873635
GO:0034765	Process	Regulation of ion transmembrane transport	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635

MIM	HGNC	e!Ensembl
600359	6255	ENSG00000151704

Protein

UniProt ID

P48048

Protein name

ATP-sensitive inward rectifier potassium channel 1 (ATP-regulated potassium channel ROM-K) (Inward rectifier K(+) channel Kir1.1) (Potassium channel, inwardly rectifying subfamily J member 1)

Protein function

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 potass

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01007	IRK	43 → 185	Inward rectifier potassium channel transmembrane domain	Domain
PF17655	IRK_C	192 → 365	Inward rectifier potassium channel C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver. {ECO:0000269|PubMed:7635463}.

Sequence

MNASSRNVFDTLIRVLTESMFKHLRKWVVTRFFGHSRQRARLVSKDGRCNIEFGNVEAQS
RFIFFVDIWTTVLDLKWRYKMTIFITAFLGSWFFFGLLWYAVAYIHKDLPEFHPSANHTP
CVENINGLTSAFLFSLETQVTIGYGFRCVTEQCATAIFLLIFQSILGVIINSFMCGAILA
KISRPKKRAKTITFSKNAVISKRGGKLCLLIRVANLRKSLLIGSHIYGKLLKTTVTPEGE
TIILDQININFVVDAGNENLFFISPLTIYHVIDHNSPFFHMAAETLLQQDFELVVFLDGT
VESTSATCQVRTSYVPEEVLWGYRFAPIVSKTKEGKYRVDFHNFSKTVEVETPHCAMCLY
NEKDVRARMKRGYDNPNFILSEVNETDDTKM

Sequence length

391

Interactions

View interactions

	KEGG		Reactome
	Aldosterone-regulated sodium reabsorption Gastric acid secretion		Potassium transport channels

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Amelogenesis imperfecta	Amelogenesis Imperfecta	rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489 View all (70 more)	23341834
Bartter syndrome	Bartter Disease, Bartter syndrome, antenatal , type 2, Bartter syndrome, antenatal type 1	rs74315284, rs74315285, rs1389952796, rs74315286, rs74315287, rs74315288, rs74315289, rs121908144, rs121908145, rs121909137, rs121909138, rs121909131, rs121909132, rs121909133, rs121909134 View all (58 more)	10561751, 22275899, 12911542, 9727001, 23341834, 8841184, 9002665, 23782368
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Chondrocalcinosis	Calcium pyrophosphate deposition disease	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hyperaldosteronism	Hyperaldosteronism	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595
Hypertension	Hypertensive disease	rs13306026	22228705
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Antenatal bartter syndrome	Antenatal Bartter syndrome	ClinVar
Antenatal Bartter Syndrome	antenatal Bartter syndrome	GenCC

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenoma	Associate	25165391, 28544176, 37074453
Bartter Syndrome	Associate	10611379, 12472765, 12589089, 12911530, 15287206, 17401586, 22441188, 24659592, 25344677, 29953267, 31441846, 34663630, 35761198, 37956218
Bartter syndrome type 3	Associate	17401586, 18443236, 32590952, 34663630, 35195872, 35761198, 37537162, 37956218, 40428323
Carcinoma Renal Cell	Associate	25344677
Coronary Artery Disease	Associate	31480784
Diabetes Gestational	Associate	36313769
Diabetes Mellitus	Associate	25344677
Diabetes Mellitus Insulin Dependent 19	Associate	22907731
Disease	Associate	18391953
Gitelman Syndrome	Associate	29953267
Hypercalciuria	Associate	17401586
Hyperkalemia	Associate	12589089, 18550644
Hypertension	Associate	18391953, 18443236, 30113482
Hyponatremia	Associate	12589089, 26313793, 32590952
Hypotension	Associate	18391953, 18443236, 30113482
Neoplasm Metastasis	Inhibit	25344677
Neoplasms	Associate	25165391
Neoplasms	Inhibit	25344677
Nephrocalcinosis	Associate	17401586, 31441846
Nephrolithiasis	Associate	35761198
Pseudohypoaldosteronism	Associate	17401586

KCNJ1 (potassium inwardly rectifying channel subfamily J member 1)