InnateDB Protein
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IDBP-82228.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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KCNE1L
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Protein Name
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KCNE1-like
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Synonyms
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KCNE5;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000361173
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InnateDB Gene
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IDBG-82226 (KCNE1L)
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Protein Structure
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Function |
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Subcellular Localization |
Membrane; Single-pass type I membrane protein.
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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.
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Tissue Specificity |
Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005249
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voltage-gated potassium channel activity
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GO:0015459
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potassium channel regulator activity
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GO:0044325
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ion channel binding
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GO:0086008
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voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
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Biological Process |
GO:0008016
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regulation of heart contraction
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GO:0060048
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cardiac muscle contraction
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GO:0060306
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regulation of membrane repolarization
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GO:0060307
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regulation of ventricular cardiac muscle cell membrane repolarization
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GO:0060372
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regulation of atrial cardiac muscle cell membrane repolarization
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GO:0071435
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potassium ion export
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GO:0071805
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potassium ion transmembrane transport
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GO:0086005
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ventricular cardiac muscle cell action potential
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GO:0086013
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membrane repolarization during cardiac muscle cell action potential
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GO:0086014
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atrial cardiac muscle cell action potential
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GO:0086091
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regulation of heart rate by cardiac conduction
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GO:1901379
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regulation of potassium ion transmembrane transport
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GO:1901380
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negative regulation of potassium ion transmembrane transport
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GO:1901381
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positive regulation of potassium ion transmembrane transport
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GO:2001257
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regulation of cation channel activity
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Cellular Component |
GO:0008076
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voltage-gated potassium channel complex
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UJ90
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PhosphoSite |
PhosphoSite-
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TrEMBL |
Q5JWV7
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UniProt Splice Variant |
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Entrez Gene |
23630
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UniGene |
Hs.522753
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RefSeq |
NP_036414
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HUGO |
HGNC:6241
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OMIM |
300328
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CCDS |
CCDS14547
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HPRD |
02268
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IMGT |
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EMBL |
AJ012743
AK314923
BC035330
CH471120
DQ192294
DQ784807
EF535525
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GenPept |
AAH35330
ABB00307
ABQ01242
ABQ08564
BAG37431
CAB58359
EAX02676
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