Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9UJ90

- KCE1L_HUMAN

UniProt

Q9UJ90 - KCE1L_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    GO - Cellular componenti

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

    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.
    GenevestigatoriQ9UJ90.

    Organism-specific databases

    HPAiHPA042316.

    Interactioni

    Protein-protein interaction databases

    BioGridi117161. 1 interaction.
    STRINGi9606.ENSP00000361173.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UJ90.
    SMRiQ9UJ90. Positions 1-105.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei61 – 8121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the potassium channel KCNE family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

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

    Sequencei

    Sequence statusi: Complete.

    Q9UJ90-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNCSESQRLR TLLSRLLLEL HHRGNASGLG AGPRPSMGMG VVPDPFVGRE    50
    VTSAKGDDAY LYILLIMIFY ACLAGGLILA YTRSRKLVEA KDEPSQACAE 100
    HEWAPGGALT ADAEAAAGSQ AEGRRQLASE GLPALAQGAE RV 142
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    SMRi Q9UJ90. Positions 1-105.
    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.
    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.
    Genevestigatori Q9UJ90.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    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 1, 2014
    This is version 100 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