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Q9UML7

- Q9UML7_HUMAN

UniProt

Q9UML7 - Q9UML7_HUMAN

Protein
Submitted name:

Cystic fibrosis transmembrane conductance regulator

Gene

CFTR

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 3 out of 5- Protein predictedi
  1. Functioni

    GO - Molecular functioni

    1. bicarbonate transmembrane transporter activity Source: Ensembl
    2. chloride transmembrane transporter activity Source: Ensembl

    GO - Biological processi

    1. cellular response to cAMP Source: Ensembl
    2. cellular response to hormone stimulus Source: Ensembl
    3. cholesterol biosynthetic process Source: Ensembl
    4. cholesterol transport Source: Ensembl
    5. intracellular pH elevation Source: Ensembl
    6. iodide transport Source: Ensembl
    7. lung development Source: Ensembl
    8. membrane hyperpolarization Source: Ensembl
    9. positive regulation of vasodilation Source: Ensembl
    10. response to cytokine Source: Ensembl
    11. response to drug Source: Ensembl
    12. response to estrogen Source: Ensembl
    13. response to peptide hormone Source: Ensembl
    14. sperm capacitation Source: Ensembl
    15. transepithelial chloride transport Source: Ensembl
    16. vasodilation Source: Ensembl
    17. water transport Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Submitted name:
    Cystic fibrosis transmembrane conductance regulatorImported
    Gene namesi
    Name:CFTRImported
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. basolateral plasma membrane Source: Ensembl
    3. cytoplasmic vesicle membrane Source: Ensembl
    4. integral component of membrane Source: UniProtKB-KW
    5. microvillus Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UML7.
    BgeeiQ9UML7.

    Family & Domainsi

    Keywords - Domaini

    TransmembraneImported

    Sequencei

    Sequence statusi: Fragment.

    Q9UML7-1 [UniParc]FASTAAdd to Basket

    « Hide

    LLHPAIFGLH HIGMQMRIAM FSLIYKK                            27
    Length:27
    Mass (Da):3,167
    Last modified:May 1, 2000 - v1
    Checksum:iB67FFD4448115C9B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Non-terminal residuei1 – 11Imported
    Non-terminal residuei27 – 271Imported

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L49339 Genomic DNA. Translation: AAC41928.1.
    UniGeneiHs.489786.
    Hs.621460.
    Hs.661104.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L49339 Genomic DNA. Translation: AAC41928.1 .
    UniGenei Hs.489786.
    Hs.621460.
    Hs.661104.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Gene expression databases

    ArrayExpressi Q9UML7.
    Bgeei Q9UML7.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene."
      Varon R., Magdorf K., Staab D., Wahn H.U., Krawczak M., Sperling K., Reis A.
      Hum. Mol. Genet. 4:1463-1464(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE.

    Entry informationi

    Entry nameiQ9UML7_HUMAN
    AccessioniPrimary (citable) accession number: Q9UML7
    Entry historyi
    Integrated into UniProtKB/TrEMBL: May 1, 2000
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 52 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiUnreviewed (UniProtKB/TrEMBL)
    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.