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Q9UJ90

- KCE1L_HUMAN

UniProt

Q9UJ90 - KCE1L_HUMAN

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Protein

Potassium voltage-gated channel subfamily E member 1-like protein

Gene

KCNE1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. ion channel binding Source: BHF-UCL
  2. potassium channel regulator activity Source: BHF-UCL

GO - Biological processi

  1. atrial cardiac muscle cell action potential Source: BHF-UCL
  2. cardiac muscle contraction Source: BHF-UCL
  3. membrane repolarization during cardiac muscle cell action potential Source: GOC
  4. negative regulation of potassium ion transmembrane transport Source: BHF-UCL
  5. positive regulation of potassium ion transmembrane transport Source: BHF-UCL
  6. potassium ion export Source: BHF-UCL
  7. potassium ion transmembrane transport Source: BHF-UCL
  8. regulation of atrial cardiac muscle cell membrane repolarization Source: BHF-UCL
  9. regulation of cation channel activity Source: BHF-UCL
  10. regulation of heart contraction Source: BHF-UCL
  11. regulation of heart rate by cardiac conduction Source: BHF-UCL
  12. regulation of membrane repolarization Source: BHF-UCL
  13. regulation of potassium ion transmembrane transport Source: BHF-UCL
  14. regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  15. ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily E member 1-like protein
Alternative name(s):
AMME syndrome candidate gene 2 protein
Gene namesi
Name:KCNE1L
Synonyms:AMMECR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:6241. KCNE1L.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei61 – 8121HelicalSequence AnalysisAdd
BLAST
Topological domaini82 – 14261CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Alport syndrome, Deafness, Elliptocytosis, Hereditary hemolytic anemia, Mental retardation

Organism-specific databases

MIMi300194. phenotype.
Orphaneti86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBiPA30031.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 142142Potassium voltage-gated channel subfamily E member 1-like proteinPRO_0000144294Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi2 – 21N-linked (GlcNAc...)Sequence Analysis
Glycosylationi25 – 251N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9UJ90.
PRIDEiQ9UJ90.

PTM databases

PhosphoSiteiQ9UJ90.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9UJ90.
CleanExiHS_KCNE1L.
ExpressionAtlasiQ9UJ90. baseline.
GenevestigatoriQ9UJ90.

Organism-specific databases

HPAiHPA042316.

Interactioni

Protein-protein interaction databases

BioGridi117161. 1 interaction.
STRINGi9606.ENSP00000361173.

Structurei

3D structure databases

ProteinModelPortaliQ9UJ90.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the potassium channel KCNE family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG44606.
GeneTreeiENSGT00390000012545.
HOGENOMiHOG000113204.
HOVERGENiHBG052221.
InParanoidiQ9UJ90.
KOiK04895.
OMAiEHEWAPG.
OrthoDBiEOG7CCBTK.
PhylomeDBiQ9UJ90.
TreeFamiTF335981.

Sequencei

Sequence statusi: Complete.

Q9UJ90-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MNCSESQRLR TLLSRLLLEL HHRGNASGLG AGPRPSMGMG VVPDPFVGRE
60 70 80 90 100
VTSAKGDDAY LYILLIMIFY ACLAGGLILA YTRSRKLVEA KDEPSQACAE
110 120 130 140
HEWAPGGALT ADAEAAAGSQ AEGRRQLASE GLPALAQGAE RV
Length:142
Mass (Da):14,993
Last modified:May 1, 2000 - v1
Checksum:iED8EC611CDE66BFE
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331P → S.
Corresponds to variant rs17003955 [ dbSNP | Ensembl ].
VAR_053037
Natural varianti114 – 1141E → Q.
Corresponds to variant rs41312935 [ dbSNP | Ensembl ].
VAR_034048

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ012743 mRNA. Translation: CAB58359.1.
BC035330 mRNA. Translation: AAH35330.1.
CCDSiCCDS14547.1.
RefSeqiNP_036414.1. NM_012282.2.
UniGeneiHs.522753.

Genome annotation databases

EnsembliENST00000372101; ENSP00000361173; ENSG00000176076.
GeneIDi23630.
KEGGihsa:23630.
UCSCiuc004eoh.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ012743 mRNA. Translation: CAB58359.1 .
BC035330 mRNA. Translation: AAH35330.1 .
CCDSi CCDS14547.1.
RefSeqi NP_036414.1. NM_012282.2.
UniGenei Hs.522753.

3D structure databases

ProteinModelPortali Q9UJ90.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117161. 1 interaction.
STRINGi 9606.ENSP00000361173.

PTM databases

PhosphoSitei Q9UJ90.

Proteomic databases

PaxDbi Q9UJ90.
PRIDEi Q9UJ90.

Protocols and materials databases

DNASUi 23630.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372101 ; ENSP00000361173 ; ENSG00000176076 .
GeneIDi 23630.
KEGGi hsa:23630.
UCSCi uc004eoh.3. human.

Organism-specific databases

CTDi 23630.
GeneCardsi GC0XM108866.
HGNCi HGNC:6241. KCNE1L.
HPAi HPA042316.
MIMi 300194. phenotype.
300328. gene.
neXtProti NX_Q9UJ90.
Orphaneti 86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBi PA30031.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG44606.
GeneTreei ENSGT00390000012545.
HOGENOMi HOG000113204.
HOVERGENi HBG052221.
InParanoidi Q9UJ90.
KOi K04895.
OMAi EHEWAPG.
OrthoDBi EOG7CCBTK.
PhylomeDBi Q9UJ90.
TreeFami TF335981.

Miscellaneous databases

GeneWikii KCNE1L.
GenomeRNAii 23630.
NextBioi 46403.
PROi Q9UJ90.
SOURCEi Search...

Gene expression databases

Bgeei Q9UJ90.
CleanExi HS_KCNE1L.
ExpressionAtlasi Q9UJ90. baseline.
Genevestigatori Q9UJ90.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiKCE1L_HUMAN
AccessioniPrimary (citable) accession number: Q9UJ90
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: May 1, 2000
Last modified: October 29, 2014
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3