RBCC Red Blood Cell Collection

IRK1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: KCNJ1 , ROMK1
Protein names and data: IRK1_HUMAN , 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 Lenght: 391 a.a.
Mass: 44795 Da
fasta formatted sequence
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.
Disease: ( OMIM: 241200 600359 ) Bartter syndrome 2 (BS2) [MIM:241200]: 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. Bartter syndrome type 2 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Multi-pass membrane protein. Note=Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.
Tissue specificity: In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver.

Genetic variants

6 - 6 R -> W (in dbSNP:rs34191956). VAR_049668 34191956
72 - 72 V -> E (in BS2). VAR_001548
74 - 74 D -> Y (in BS2). VAR_001549
99 - 99 W -> C (in BS2). VAR_001550
108 - 108 D -> H (in BS2). VAR_001551
110 - 110 P -> L (in BS2). VAR_001552
115 - 115 S -> F (in a breast cancer sample; somatic mutation). VAR_036426
122 - 122 V -> E (in BS2). VAR_001553
124 - 124 N -> K (in BS2). VAR_019724
167 - 167 G -> E (in BS2). VAR_001554
198 - 198 A -> T (in BS2). VAR_001555
214 - 214 A -> V (in BS2). VAR_019725
219 - 219 S -> R (in BS2). VAR_019726
315 - 315 V -> G (in BS2). VAR_001556
357 - 357 M -> T (in BS2; dbSNP:rs59172778). VAR_019727 59172778

Database cross-references

UniProt: P48048
Ensembl: ENST00000324003
Ensembl: ENST00000324036
Ensembl: ENST00000392664
Ensembl: ENST00000392665
Ensembl: ENST00000392666
Ensembl: ENST00000440599
MIM: 241200
MIM: 600359
neXtProt: NX_P48048
Antibodypedia: P48048 (may not find the protein thus also not any antibody)
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