Homo sapiens Protein: KCNE1L
Summary
InnateDB Protein IDBP-82228.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCNE1L
Protein Name KCNE1-like
Synonyms KCNE5;
Species Homo sapiens
Ensembl Protein ENSP00000361173
InnateDB Gene IDBG-82226 (KCNE1L)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Membrane; Single-pass type I membrane protein.
Disease Associations Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis. Note=The gene represented in this entry may be involved in disease pathogenesis.
Tissue Specificity Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005249 voltage-gated potassium channel activity
GO:0015459 potassium channel regulator activity
GO:0044325 ion channel binding
GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
Biological Process
GO:0008016 regulation of heart contraction
GO:0060048 cardiac muscle contraction
GO:0060306 regulation of membrane repolarization
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization
GO:0071435 potassium ion export
GO:0071805 potassium ion transmembrane transport
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086013 membrane repolarization during cardiac muscle cell action potential
GO:0086014 atrial cardiac muscle cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:1901379 regulation of potassium ion transmembrane transport
GO:1901380 negative regulation of potassium ion transmembrane transport
GO:1901381 positive regulation of potassium ion transmembrane transport
GO:2001257 regulation of cation channel activity
Cellular Component
GO:0008076 voltage-gated potassium channel complex
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UJ90
PhosphoSite PhosphoSite-
TrEMBL Q5JWV7
UniProt Splice Variant
Entrez Gene 23630
UniGene Hs.522753
RefSeq NP_036414
HUGO HGNC:6241
OMIM 300328
CCDS CCDS14547
HPRD 02268
IMGT
EMBL AJ012743 AK314923 BC035330 CH471120 DQ192294 DQ784807 EF535525
GenPept AAH35330 ABB00307 ABQ01242 ABQ08564 BAG37431 CAB58359 EAX02676