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Q9UJ90 (KCE1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Potassium voltage-gated channel subfamily E member 1-like protein
Alternative name(s):
AMME syndrome candidate gene 2 protein
Gene names
Name:KCNE1L
Synonyms:AMMECR2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length142 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Single-pass type I membrane protein.

Tissue specificity

Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.

Involvement in disease

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.

Sequence similarities

Belongs to the potassium channel KCNE family.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseAlport syndrome
Deafness
Elliptocytosis
Hereditary hemolytic anemia
Mental retardation
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processatrial cardiac muscle cell action potential

Inferred from mutant phenotype PubMed 18313602. Source: BHF-UCL

cardiac muscle contraction

Inferred from mutant phenotype PubMed 18313602. Source: BHF-UCL

membrane repolarization during cardiac muscle cell action potential

Inferred from mutant phenotype PubMed 21493962. Source: GOC

negative regulation of potassium ion transmembrane transport

Inferred from direct assay PubMed 12324418PubMed 18313602. Source: BHF-UCL

positive regulation of potassium ion transmembrane transport

Inferred from direct assay PubMed 12324418. Source: BHF-UCL

potassium ion export

Inferred from direct assay PubMed 18313602. Source: BHF-UCL

potassium ion transmembrane transport

Inferred from direct assay PubMed 12324418. Source: BHF-UCL

regulation of atrial cardiac muscle cell membrane repolarization

Inferred from mutant phenotype PubMed 18313602. Source: BHF-UCL

regulation of cation channel activity

Inferred from direct assay PubMed 21493962. Source: BHF-UCL

regulation of heart contraction

Inferred from mutant phenotype PubMed 18313602. Source: BHF-UCL

regulation of heart rate by cardiac conduction

Inferred from mutant phenotype PubMed 18313602PubMed 21493962. Source: BHF-UCL

regulation of membrane repolarization

Inferred from direct assay PubMed 21493962. Source: BHF-UCL

regulation of potassium ion transmembrane transport

Inferred from direct assay PubMed 21493962. Source: BHF-UCL

regulation of ventricular cardiac muscle cell membrane repolarization

Inferred from mutant phenotype PubMed 21493962. Source: BHF-UCL

ventricular cardiac muscle cell action potential

Inferred from mutant phenotype PubMed 21493962. Source: BHF-UCL

   Cellular_componentvoltage-gated potassium channel complex

Inferred from direct assay PubMed 12324418PubMed 21493962. Source: BHF-UCL

   Molecular_functionion channel binding

Inferred from physical interaction PubMed 12324418. Source: BHF-UCL

potassium channel regulator activity

Inferred from direct assay PubMed 12324418PubMed 18313602PubMed 21493962. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 142142Potassium voltage-gated channel subfamily E member 1-like protein
PRO_0000144294

Regions

Transmembrane61 – 8121Helical; Potential
Topological domain82 – 14261Cytoplasmic Potential

Amino acid modifications

Glycosylation21N-linked (GlcNAc...) Potential
Glycosylation251N-linked (GlcNAc...) Potential

Natural variations

Natural variant331P → S.
Corresponds to variant rs17003955 [ dbSNP | Ensembl ].
VAR_053037
Natural variant1141E → Q.
Corresponds to variant rs41312935 [ dbSNP | Ensembl ].
VAR_034048

Sequences

Sequence LengthMass (Da)Tools
Q9UJ90 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: ED8EC611CDE66BFE

FASTA14214,993
        10         20         30         40         50         60 
MNCSESQRLR TLLSRLLLEL HHRGNASGLG AGPRPSMGMG VVPDPFVGRE VTSAKGDDAY 

        70         80         90        100        110        120 
LYILLIMIFY ACLAGGLILA YTRSRKLVEA KDEPSQACAE HEWAPGGALT ADAEAAAGSQ 

       130        140 
AEGRRQLASE GLPALAQGAE RV 

« Hide

References

« Hide 'large scale' references
[1]"KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs."
Piccini M., Vitelli F., Seri M., Galietta L.J.V., Moran O., Bulfone A., Banfi S., Pober B., Renieri A.
Genomics 60:251-257(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Neuron and Placenta.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ012743 mRNA. Translation: CAB58359.1.
BC035330 mRNA. Translation: AAH35330.1.
CCDSCCDS14547.1.
RefSeqNP_036414.1. NM_012282.2.
UniGeneHs.522753.

3D structure databases

ProteinModelPortalQ9UJ90.
SMRQ9UJ90. Positions 1-105.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117161. 1 interaction.
STRING9606.ENSP00000361173.

PTM databases

PhosphoSiteQ9UJ90.

Proteomic databases

PaxDbQ9UJ90.
PRIDEQ9UJ90.

Protocols and materials databases

DNASU23630.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372101; ENSP00000361173; ENSG00000176076.
GeneID23630.
KEGGhsa:23630.
UCSCuc004eoh.3. human.

Organism-specific databases

CTD23630.
GeneCardsGC0XM108866.
HGNCHGNC:6241. KCNE1L.
HPAHPA042316.
MIM300194. phenotype.
300328. gene.
neXtProtNX_Q9UJ90.
Orphanet86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBPA30031.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44606.
HOGENOMHOG000113204.
HOVERGENHBG052221.
InParanoidQ9UJ90.
KOK04895.
OMAEHEWAPG.
OrthoDBEOG7CCBTK.
PhylomeDBQ9UJ90.
TreeFamTF335981.

Gene expression databases

BgeeQ9UJ90.
CleanExHS_KCNE1L.
GenevestigatorQ9UJ90.

Family and domain databases

ProtoNetSearch...

Other

GeneWikiKCNE1L.
GenomeRNAi23630.
NextBio46403.
PROQ9UJ90.
SOURCESearch...

Entry information

Entry nameKCE1L_HUMAN
AccessionPrimary (citable) accession number: Q9UJ90
Entry history
Integrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 99 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM