Q6LEE2 (Q6LEE2_HUMAN) Unreviewed, UniProtKB/TrEMBL

Names and origin

Protein names	Submitted name: 4a-carbinolamine dehydratase EMBL AAA35670.1
Organism	Homo sapiens (Human) EMBL AAA35670.1
Taxonomic identifier	9606 [NCBI]
Taxonomic lineage	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	43 AA.
Sequence status	Fragment.
Protein existence	Evidence at transcript level

Ontologies

Gene Ontology (GO)
Biological_process	positive regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: Compara protein heterooligomerization Inferred from electronic annotation. Source: Compara protein homotetramerization Inferred from electronic annotation. Source: Compara regulation of protein homodimerization activity Inferred from electronic annotation. Source: Compara tetrahydrobiopterin biosynthetic process Inferred from electronic annotation. Source: InterPro
Cellular_component	nucleus Inferred from electronic annotation. Source: Compara
Molecular_function	4-alpha-hydroxytetrahydrobiopterin dehydratase activity Inferred from electronic annotation. Source: InterPro phenylalanine 4-monooxygenase activity Inferred from electronic annotation. Source: Compara transcription coactivator activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Experimental info
	Non-terminal residue	1	1	EMBL AAA35670.1
	Non-terminal residue	43	1	EMBL AAA35670.1

Sequences

	Sequence		Length	Mass (Da)
	Q6LEE2 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: AF402223C50AF4EF	FASTA	43	5,111
	10 20 30 40 GKAHRLSAEE RDQLLPNLRA VGWNELEGRD AIFKQFHFKD FNR

References

[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: Blood EMBL AAA35670.1.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	L15410 Genomic DNA. Translation: AAA35670.1.
IPI	IPI00218568.
UniGene	Hs.3192.
3D structure databases
ProteinModelPortal	Q6LEE2.
ModBase	Search...
Protein-protein interaction databases
STRING	Q6LEE2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Gene expression databases
ArrayExpress	Q6LEE2.
Bgee	Q6LEE2.
Family and domain databases
Gene3D	3.30.1360.20. 1 hit.
InterPro	IPR001533. Trans/pterin_deHydtase. [Graphical view]
PANTHER	PTHR12599. PTHR12599. 1 hit.
SUPFAM	SSF55248. Trans_pterinDh. 1 hit.
ProtoNet	Search...

Entry information

Entry name

Q6LEE2_HUMAN

Accession

Primary (citable) accession number: Q6LEE2

Entry history

Integrated into UniProtKB/TrEMBL:	July 5, 2004
Last sequence update:	July 5, 2004
Last modified:	April 3, 2013
This is version 50 of the entry and version 1 of the sequence. [Complete history]

Entry status

Unreviewed (UniProtKB/TrEMBL)

Disclaimer

Any 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.