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Q6LEE2

- Q6LEE2_HUMAN

UniProt

Q6LEE2 - Q6LEE2_HUMAN

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Protein
Submitted name: 4a-carbinolamine dehydratase
Gene
N/A
Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 1 out of 5 - Protein predictedi

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
Complete GO annotation...

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
Complete GO annotation...

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
Complete GO annotation...

PTM / Processingi

Proteomic databases

PRIDEiQ6LEE2.

Expressioni

Gene expression databases

ArrayExpressiQ6LEE2.
BgeeiQ6LEE2.

Structurei

3D structure databases

ProteinModelPortaliQ6LEE2.

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

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

Non-terminal residue

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...

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: July 9, 2014
This is version 57 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.

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