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
370744532023Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma.0
370744532023Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma.0
334446242021Solubilization, purification, and functional reconstitution of human ROMK potassium channel in copolymer styrene-maleic acid (SMA) nanodiscs.9
334446242021Solubilization, purification, and functional reconstitution of human ROMK potassium channel in copolymer styrene-maleic acid (SMA) nanodiscs.9
330588402020Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2.3
330588402020Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2.3
317315402019Single-Channel Properties of the ROMK-Pore-Forming Subunit of the Mitochondrial ATP-Sensitive Potassium Channel.20
317315402019Single-Channel Properties of the ROMK-Pore-Forming Subunit of the Mitochondrial ATP-Sensitive Potassium Channel.20
293112592018The endosomal trafficking factors CORVET and ESCRT suppress plasma membrane residence of the renal outer medullary potassium channel (ROMK).9
294580002018Evidence for a mitochondrial ATP-regulated potassium channel in human dermal fibroblasts.25
301134822018Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.4
293112592018The endosomal trafficking factors CORVET and ESCRT suppress plasma membrane residence of the renal outer medullary potassium channel (ROMK).9
294580002018Evidence for a mitochondrial ATP-regulated potassium channel in human dermal fibroblasts.25
301134822018Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.4
286300402017Endoplasmic reticulum-associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome.25

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/favicon/css/template-nav.css