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Q6LEE2

- Q6LEE2_HUMAN

UniProt

Q6LEE2 - Q6LEE2_HUMAN

Protein
Submitted name:

4a-carbinolamine dehydratase

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

    GO - Molecular functioni

    1. 4-alpha-hydroxytetrahydrobiopterin dehydratase activity Source: InterPro
    2. phenylalanine 4-monooxygenase activity Source: Ensembl
    3. transcription coactivator activity Source: Ensembl

    GO - Biological processi

    1. positive regulation of transcription, DNA-templated Source: Ensembl
    2. protein heterooligomerization Source: Ensembl
    3. protein homotetramerization Source: Ensembl
    4. regulation of protein homodimerization activity Source: Ensembl
    5. tetrahydrobiopterin biosynthetic process Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Submitted name:
    4a-carbinolamine dehydrataseImported
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: Ensembl

    PTM / Processingi

    Proteomic databases

    PRIDEiQ6LEE2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6LEE2.
    BgeeiQ6LEE2.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6LEE2.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Family and domain databases

    Gene3Di3.30.1360.20. 1 hit.
    InterProiIPR001533. Trans/pterin_deHydtase.
    [Graphical view]
    PANTHERiPTHR12599. PTHR12599. 1 hit.
    SUPFAMiSSF55248. SSF55248. 1 hit.

    Sequencei

    Sequence statusi: Fragment.

    Q6LEE2-1 [UniParc]FASTAAdd to Basket

    « Hide

    GKAHRLSAEE RDQLLPNLRA VGWNELEGRD AIFKQFHFKD FNR          43
    Length:43
    Mass (Da):5,111
    Last modified:July 5, 2004 - v1
    Checksum:iAF402223C50AF4EF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Non-terminal residuei1 – 11Imported
    Non-terminal residuei43 – 431Imported

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L15410 Genomic DNA. Translation: AAA35670.1.
    UniGeneiHs.3192.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L15410 Genomic DNA. Translation: AAA35670.1 .
    UniGenei Hs.3192.

    3D structure databases

    ProteinModelPortali Q6LEE2.
    ModBasei Search...
    MobiDBi Search...

    Proteomic databases

    PRIDEi Q6LEE2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Gene expression databases

    ArrayExpressi Q6LEE2.
    Bgeei Q6LEE2.

    Family and domain databases

    Gene3Di 3.30.1360.20. 1 hit.
    InterProi IPR001533. Trans/pterin_deHydtase.
    [Graphical view ]
    PANTHERi PTHR12599. PTHR12599. 1 hit.
    SUPFAMi SSF55248. SSF55248. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism."
      Citron B.A., Kaufman S., Milstien S., Naylor E.W., Greene C.L., Davis M.D.
      Am. J. Hum. Genet. 53:768-774(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE.
      Tissue: BloodImported.

    Entry informationi

    Entry nameiQ6LEE2_HUMAN
    AccessioniPrimary (citable) accession number: Q6LEE2
    Entry historyi
    Integrated into UniProtKB/TrEMBL: July 5, 2004
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 58 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.