Search
inwardly-rectifying K+ channel J1; ATP-sensitive inward rectifier K+ channel 1; K+ channel, inwardly rectifying subfamily J member 1; ATP-regulated K+ channel ROM-K; Kir1.1 (KCNJ1, ROMK1)
Function:
- inwardly-rectifying K+ channel
- in the kidney, probably plays a major role in K+ homeostasis
- channel is activated by internal ATP & can be blocked by external Ba+2
Structure:
- belongs to the inward rectifier-type K+ channel family
Compartment: membrane
Alternative splicing: named isoforms=3
Expression:
- expressed kidney & pancreatic islets
- lower levels in skeletal muscle, pancreas, spleen, brain, heart & liver
Pathology:
- defects in KCNJ1 are the cause of Bartter syndrome type-2
General
ATP-sensitive K+ channel (inwardly-rectifying K+ channel)
inwardly-rectifying K+ channel subfamily J
Properties
SIZE: entity length = 391 aa
MW = 45 kD
COMPARTMENT: plasma membrane
CELL: beta cell
WITHIN: islets of Langerhans
ORGANISM: vertebrate*
MOTIF: cytoplasmic domain {1-77}
transmembrane domain {78-102}
exoplasmic loop {103-155}
MOTIF: H5 (pore-forming helix) {128-139}
peptide motif {141-146}
transmembrane domain {156-177}
MOTIF: asparagine residue {171}
cytoplasmic domain {178-391}
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 223-230
ION-PERMEABILITY: K+
Database Correlations
OMIM correlations
MORBIDMAP 600359
UniProt P48048
Pfam PF01007
Entrez Gene 3758
Kegg hsa:3758
References
- UniProt :accession P48048
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/KCNJ1