KCNJ1
entrez
3758
canonical
uniprot
P48048
canonical
ensembl
ENSG00000151704
resolver
ensp
ENSP00000316233
resolver
ensp
ENSP00000376432
resolver
ensp
ENSP00000376433
resolver
ensp
ENSP00000376434
resolver
genesymbol
KCNJ1
resolver
genesymbol_syn
ROMK1
resolver
hgnc
HGNC:6255
resolver
uniprot
A8K432
resolver
uniprot
B2RMR4
resolver
uniprot
Q6LD67
resolver
uniprot_entry
A8K432_HUMAN
resolver
uniprot_entry
KCNJ1_HUMAN
resolver
uniprot_sec
B2RMR4
resolver
uniprot_sec
Q6LD67
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by WNK3 (PubMed:16357011). Activated by phosphatidylinositol 4,5 biphosphate (PtdIns(4,5)P2) (By similarity). {ECO:0000250|UniProtKB:P35560, ECO:0000269|PubMed:16357011}.
uniprot
proteins
amino_acid_sequence
MNASSRNVFDTLIRVLTESMFKHLRKWVVTRFFGHSRQRARLVSKDGRCNIEFGNVEAQSRFIFFVDIWTTVLDLKWRYKMTIFITAFLGSWFFFGLLWYAVAYIHKDLPEFHPSANHTPCVENINGLTSAFLFSLETQVTIGYGFRCVTEQCATAIFLLIFQSILGVIINSFMCGAILAKISRPKKRAKTITFSKNAVISKRGGKLCLLIRVANLRKSLLIGSHIYGKLLKTTVTPEGETIILDQININFVVDAGNENLFFISPLTIYHVIDHNSPFFHMAAETLLQQDFELVVFLDGTVESTSATCQVRTSYVPEEVLWGYRFAPIVSKTKEGKYRVDFHNFSKTVEVETPHCAMCLYNEKDVRARMKRGYDNPNFILSEVNETDDTKM
uniprot
proteins
disease_involvement
DISEASE: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. {ECO:0000269|PubMed:8841184, ECO:0000269|PubMed:9002665, ECO:0000269|PubMed:9727001}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 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. In the kidney, probably plays a major role in potassium homeostasis. {ECO:0000269|PubMed:16357011, ECO:0000269|PubMed:7929082}.
uniprot
proteins
mass_dalton
44795
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane. {ECO:0000269|PubMed:12684516}.
uniprot
proteins
protein_family
Inward rectifier-type potassium channel (TC 1.A.2.1) family
uniprot
proteins
protein_family
KCNJ1 subfamily
uniprot
proteins
pubmed
10889209
uniprot
proteins
pubmed
12684516
uniprot
proteins
pubmed
14623317
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16357011
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
7635463
uniprot
proteins
pubmed
7929082
uniprot
proteins
pubmed
8190102
uniprot
proteins
pubmed
8841184
uniprot
proteins
pubmed
9002665
uniprot
proteins
pubmed
9099852
uniprot
proteins
pubmed
9727001
uniprot
proteins
sequence_length
391
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12684516, ECO:0000269|PubMed:16357011}; Multi-pass membrane protein {ECO:0000255}. Note=Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane. {ECO:0000269|PubMed:12684516}.
uniprot
proteins
transmembrane_region
TRANSMEM 78..102; /note="Helical; Name=M1"; /evidence="ECO:0000250"; TRANSMEM 156..177; /note="Helical; Name=M2"; /evidence="ECO:0000250
uniprot
proteins