KCNJ13
entrez
3769
canonical
uniprot
O60928
canonical
ensembl
ENSG00000115474
resolver
ensp
ENSP00000233826
resolver
ensp
ENSP00000386408
resolver
genesymbol
KCNJ13
resolver
hgnc
HGNC:6259
resolver
uniprot
A0PGH1
resolver
uniprot
O76023
resolver
uniprot
Q53SA1
resolver
uniprot
Q8N3Y4
resolver
uniprot_entry
KCJ13_HUMAN
resolver
uniprot_sec
A0PGH1
resolver
uniprot_sec
O76023
resolver
uniprot_sec
Q53SA1
resolver
uniprot_sec
Q8N3Y4
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by Ba(2+) and Cs(+), although sensitivity to those inhibitors is much lower than in other Kir channels. {ECO:0000269|PubMed:9620703, ECO:0000269|PubMed:9738472}.
uniprot
proteins
amino_acid_sequence
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLVFAVLWYVLAEMNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKIARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFPLTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDKTVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE
uniprot
proteins
disease_involvement
DISEASE: Snowflake vitreoretinal degeneration (SVD) [MIM:193230]: Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment. {ECO:0000269|PubMed:18179896}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber congenital amaurosis 16 (LCA16) [MIM:614186]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:21763485}. 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. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium. {ECO:0000269|PubMed:9620703, ECO:0000269|PubMed:9738472}.
uniprot
proteins
mass_dalton
40530
uniprot
proteins
mutagenesis
MUTAGEN 111; /note="S->L: No effect on channel activity."; /evidence="ECO:0000269|PubMed:9620703"; MUTAGEN 125; /note="M->R: Increased channel activity and increased sensitivity to inhibition by Ba(2+)."; /evidence="ECO:0000269|PubMed:9620703"; MUTAGEN 129; /note="G->E: Loss of channel activity."; /evidence="ECO:0000269|PubMed:9620703
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-201 by PKC strongly inhibits ionic currents, while phosphorylation at Ser-287 by PKA increases them. {ECO:0000269|PubMed:18976636}.
uniprot
proteins
protein_family
Inward rectifier-type potassium channel (TC 1.A.2.1) family
uniprot
proteins
protein_family
KCNJ13 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18035352
uniprot
proteins
pubmed
18179896
uniprot
proteins
pubmed
18976636
uniprot
proteins
pubmed
21763485
uniprot
proteins
pubmed
39951488
uniprot
proteins
pubmed
9620703
uniprot
proteins
pubmed
9738472
uniprot
proteins
pubmed
9878260
uniprot
proteins
sequence_length
360
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:39951488}; Multi-pass membrane protein {ECO:0000255}. Note=Localized at the retinal pigmented epithelium (RPE) apical microvilli. {ECO:0000250|UniProtKB:P86046}.
uniprot
proteins
transmembrane_region
TRANSMEM 51..77; /note="Helical; Name=M1"; /evidence="ECO:0000250|UniProtKB:P49655"; TRANSMEM 132..157; /note="Helical; Name=M2"; /evidence="ECO:0000250|UniProtKB:P49655
uniprot
proteins