Human Gene KCNE5 (ENST00000372101.3) from GENCODE V44
  Description: Homo sapiens potassium voltage-gated channel subfamily E regulatory subunit 5 (KCNE5), mRNA. (from RefSeq NM_012282)
RefSeq Summary (NM_012282): This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016].
Gencode Transcript: ENST00000372101.3
Gencode Gene: ENSG00000176076.7
Transcript (Including UTRs)
   Position: hg38 chrX:109,623,700-109,625,172 Size: 1,473 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg38 chrX:109,624,592-109,625,020 Size: 429 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
GeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:109,623,700-109,625,172)mRNA (may differ from genome)Protein (142 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHPRD
LynxMalacardsMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCE1L_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily E member 1-like protein; AltName: Full=AMME syndrome candidate gene 2 protein;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.
DISEASE: Defects in KCNE1L are involved in Alport syndrome with mental retardation midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]. A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, deafness, mental retardation, midface hypoplasia and elliptocytosis.
SIMILARITY: Belongs to the potassium channel KCNE family.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: KCNE5
Diseases sorted by gene-association score: kcne5-related atrial fibrillation* (100), alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome* (25), brugada syndrome* (16), alport syndrome (11), hypokalemic periodic paralysis, type 1 (5), familial atrial fibrillation (5), long qt syndrome (3)
* = Manually curated disease association

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.60152-0.399 Picture PostScript Text
3' UTR -309.50892-0.347 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q9UJ90
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005249 voltage-gated potassium channel activity
GO:0005515 protein binding
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:0006811 ion transport
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:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF212821 - JP 2014500723-A/20324: Polycomb-Associated Non-Coding RNAs.
MA448398 - JP 2018138019-A/20324: Polycomb-Associated Non-Coding RNAs.
AF086499 - Homo sapiens full length insert cDNA clone ZD98G05.
BC035330 - Homo sapiens KCNE1-like, mRNA (cDNA clone MGC:34389 IMAGE:5197378), complete cds.
AK223306 - Homo sapiens mRNA for potassium voltage-gated channel, Isk-related family, member 1-like variant, clone: TMS03405.
AJ012743 - Homo sapiens mRNA for AMMECR2 protein.
JD526393 - Sequence 507417 from Patent EP1572962.
JD468017 - Sequence 449041 from Patent EP1572962.
JD049013 - Sequence 30037 from Patent EP1572962.
JD041925 - Sequence 22949 from Patent EP1572962.
JD108443 - Sequence 89467 from Patent EP1572962.
JD370665 - Sequence 351689 from Patent EP1572962.
JD377227 - Sequence 358251 from Patent EP1572962.
JD414024 - Sequence 395048 from Patent EP1572962.
JD131630 - Sequence 112654 from Patent EP1572962.
JD214308 - Sequence 195332 from Patent EP1572962.
JD109638 - Sequence 90662 from Patent EP1572962.
JD107221 - Sequence 88245 from Patent EP1572962.
JD479723 - Sequence 460747 from Patent EP1572962.
JD258066 - Sequence 239090 from Patent EP1572962.
JD392419 - Sequence 373443 from Patent EP1572962.
JD259936 - Sequence 240960 from Patent EP1572962.
JD410248 - Sequence 391272 from Patent EP1572962.
JD452460 - Sequence 433484 from Patent EP1572962.
JD209644 - Sequence 190668 from Patent EP1572962.
JD408386 - Sequence 389410 from Patent EP1572962.
JD314099 - Sequence 295123 from Patent EP1572962.
JD523258 - Sequence 504282 from Patent EP1572962.
JD163401 - Sequence 144425 from Patent EP1572962.
EF535525 - Homo sapiens voltage-gated potassium channel accessory subunit 5 (KCNE5) mRNA, complete cds.
JD520008 - Sequence 501032 from Patent EP1572962.
JD288884 - Sequence 269908 from Patent EP1572962.
AK314923 - Homo sapiens cDNA, FLJ95832, Homo sapiens potassium voltage-gated channel, Isk-related family,member 1-like (KCNE1L), mRNA.
KJ905437 - Synthetic construct Homo sapiens clone ccsbBroadEn_15018 KCNE1L gene, encodes complete protein.
DQ891287 - Synthetic construct clone IMAGE:100003917; FLH170764.01X; RZPDo839B04100D KCNE1-like (KCNE1L) gene, encodes complete protein.
DQ894471 - Synthetic construct Homo sapiens clone IMAGE:100008931; FLH170760.01L; RZPDo839B0499D KCNE1-like (KCNE1L) gene, encodes complete protein.
DQ896649 - Synthetic construct Homo sapiens clone IMAGE:100011109; FLH263659.01L; RZPDo839A04155D KCNE1-like (KCNE1L) gene, encodes complete protein.
DQ896656 - Synthetic construct Homo sapiens clone IMAGE:100011116; FLH263615.01L; RZPDo839C03155D KCNE1-like (KCNE1L) gene, encodes complete protein.
DQ896659 - Synthetic construct Homo sapiens clone IMAGE:100011119; FLH196386.01L; RZPDo839C09155D KCNE1-like (KCNE1L) gene, encodes complete protein.
DQ896664 - Synthetic construct Homo sapiens clone IMAGE:100011124; FLH263618.01L; RZPDo839D05155D KCNE1-like (KCNE1L) gene, encodes complete protein.
DQ192294 - Homo sapiens cardiac voltage-gated potassium channel accessory subunit 5 (KCNE5) mRNA, partial cds.
JD415947 - Sequence 396971 from Patent EP1572962.
JD458934 - Sequence 439958 from Patent EP1572962.
JD297766 - Sequence 278790 from Patent EP1572962.
JD394494 - Sequence 375518 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UJ90 (Reactome details) participates in the following event(s):

R-HSA-5577050 AKAP9:KCNQ1 tetramer:KCNE dimer transports K+ from cytosol to extracellular region
R-HSA-5577237 KCNH2:KCNE transport K+ from cytosol to extracellular region
R-HSA-5576890 Phase 3 - rapid repolarisation
R-HSA-5576893 Phase 2 - plateau phase
R-HSA-5576891 Cardiac conduction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: AMMECR2, ENST00000372101.1, ENST00000372101.2, KCE1L_HUMAN, KCNE1L, NM_012282, Q9UJ90, uc004eoh.1, uc004eoh.2, uc004eoh.3, uc004eoh.4
UCSC ID: ENST00000372101.3
RefSeq Accession: NM_012282
Protein: Q9UJ90 (aka KCE1L_HUMAN or KC1L_HUMAN)
CCDS: CCDS14547.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KCNE5:
brugada (Brugada Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.