KCNJ1 (potassium inwardly rectifying channel subfamily J member 1)

2015-06-01  

Identity

HGNC
KCNJ1
LOCATION
11q24.3
LOCUSID
3758
ALIAS
KIR1.1,ROMK,ROMK1

Other Information

Locus ID:

NCBI: 3758
MIM: 600359
HGNC: 6255
Ensembl: ENSG00000151704

Variants:

dbSNP: 3758
ClinVar: 3758
TCGA: ENSG00000151704
COSMIC: KCNJ1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151704ENST00000324003A0A0C4DFP9
ENSG00000151704ENST00000324036P48048
ENSG00000151704ENST00000324036A0A024R3K6
ENSG00000151704ENST00000392664P48048
ENSG00000151704ENST00000392665P48048
ENSG00000151704ENST00000392665A0A024R3K6
ENSG00000151704ENST00000392666P48048
ENSG00000151704ENST00000392666A0A024R3K6
ENSG00000151704ENST00000440599P48048
ENSG00000151704ENST00000440599A0A024R3K6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Aldosterone-regulated sodium reabsorptionKEGGko04960
Aldosterone-regulated sodium reabsorptionKEGGhsa04960
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
Potassium transport channelsREACTOMER-HSA-1296067

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134875400WNK4GenePathwayassociated23788015
PA33782WNK1GenePathwayassociated23788015
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD22907731
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD22907731
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD22907731

References

Pubmed IDYearTitleCitations
183919532008Rare independent mutations in renal salt handling genes contribute to blood pressure variation.310
183919532008Rare independent mutations in renal salt handling genes contribute to blood pressure variation.310
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
193494162009Regulation of renal outer medullary potassium channel and renal K(+) excretion by Klotho.79
164282872006Antagonistic regulation of ROMK by long and kidney-specific WNK1 isoforms.74
173802082007Intersectin links WNK kinases to endocytosis of ROMK1.71
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
184432362008Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population.41
184432362008Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population.41
210814912011Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function.32

Citation

Dessen P

KCNJ1 (potassium inwardly rectifying channel subfamily J member 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/gene/55275/kcnj1