KCNE5
entrez
23630
canonical
uniprot
Q9UJ90
canonical
ensembl
ENSG00000176076
resolver
ensp
ENSP00000361173
resolver
enst
ENST00000372101
resolver
genesymbol
KCNE5
resolver
genesymbol_syn
AMMECR2
resolver
genesymbol_syn
KCNE1L
resolver
hgnc
HGNC:6241
resolver
uniprot
Q5JWV7
resolver
uniprot_entry
KCNE5_HUMAN
resolver
uniprot_sec
Q5JWV7
resolver
amino_acid_sequence
MNCSESQRLRTLLSRLLLELHHRGNASGLGAGPRPSMGMGVVPDPFVGREVTSAKGDDAYLYILLIMIFYACLAGGLILAYTRSRKLVEAKDEPSQACAEHEWAPGGALTADAEAAAGSQAEGRRQLASEGLPALAQGAERV
uniprot
proteins
disease_involvement
DISEASE: AMME complex (ATS-MR) [MIM:300194]: An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, intellectual disability, midface hypoplasia and elliptocytosis. {ECO:0000269|PubMed:12011158}. Note=The gene represented in this entry may be involved in disease pathogenesis.
uniprot
proteins
function
FUNCTION: Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1. {ECO:0000269|PubMed:12324418}.
uniprot
proteins
mass_dalton
14993
uniprot
proteins
protein_family
Potassium channel KCNE family
uniprot
proteins
pubmed
10493825
uniprot
proteins
pubmed
12011158
uniprot
proteins
pubmed
12324418
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16054468
uniprot
proteins
pubmed
18313602
uniprot
proteins
pubmed
20533308
uniprot
proteins
pubmed
21493962
uniprot
proteins
sequence_length
142
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:20533308}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 61..81; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins