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Protein

Pterin-4-alpha-carbinolamine dehydratase

Gene

PCBD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.

Catalytic activityi

(6R)-6-(L-erythro-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin = (6R)-6-(L-erythro-1,2-dihydroxypropyl)-7,8-dihydro-6H-pterin + H2O.

GO - Molecular functioni

  • 4-alpha-hydroxytetrahydrobiopterin dehydratase activity Source: Reactome
  • identical protein binding Source: IntAct
  • phenylalanine 4-monooxygenase activity Source: Ensembl
  • transcription coactivator activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionActivator, Lyase
Biological processTetrahydrobiopterin biosynthesis, Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciMetaCyc:HS09360-MONOMER.
ReactomeiR-HSA-71182. Phenylalanine and tyrosine catabolism.

Names & Taxonomyi

Protein namesi
Recommended name:
Pterin-4-alpha-carbinolamine dehydratase (EC:4.2.1.96)
Short name:
PHS
Alternative name(s):
4-alpha-hydroxy-tetrahydropterin dehydratase
Dimerization cofactor of hepatocyte nuclear factor 1-alpha
Short name:
DCoH
Short name:
Dimerization cofactor of HNF1
Phenylalanine hydroxylase-stimulating protein
Pterin carbinolamine dehydratase
Short name:
PCD
Gene namesi
Name:PCBD1
Synonyms:DCOH, PCBD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000166228.8.
HGNCiHGNC:8646. PCBD1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Hyperphenylalaninemia, BH4-deficient, D (HPABH4D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor.
See also OMIM:264070
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00552882C → R in HPABH4D; mild form. 1 PublicationCorresponds to variant dbSNP:rs104894177Ensembl.1
Natural variantiVAR_00552988R → Q in HPABH4D. 1 PublicationCorresponds to variant dbSNP:rs115117837Ensembl.1
Natural variantiVAR_00553097E → K in HPABH4D; mild form. 1 PublicationCorresponds to variant dbSNP:rs397518416Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5092.
MalaCardsiPCBD1.
MIMi264070. phenotype.
OpenTargetsiENSG00000166228.
Orphaneti1578. Dehydratase deficiency.
PharmGKBiPA32985.

Polymorphism and mutation databases

BioMutaiPCBD1.
DMDMi47606444.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000630522 – 104Pterin-4-alpha-carbinolamine dehydrataseAdd BLAST103

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP61457.
MaxQBiP61457.
PaxDbiP61457.
PeptideAtlasiP61457.
PRIDEiP61457.

2D gel databases

UCD-2DPAGEiP61457.

PTM databases

iPTMnetiP61457.
PhosphoSitePlusiP61457.

Expressioni

Gene expression databases

BgeeiENSG00000166228.
CleanExiHS_PCBD1.
GenevisibleiP61457. HS.

Organism-specific databases

HPAiHPA037575.
HPA061723.

Interactioni

Subunit structurei

Homotetramer and homodimer. Heterotetramer with HNF1A; formed by a dimer of dimers (By similarity).By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi111125. 74 interactors.
IntActiP61457. 48 interactors.
MINTiMINT-1436903.
STRINGi9606.ENSP00000299299.

Structurei

3D structure databases

ProteinModelPortaliP61457.
SMRiP61457.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni61 – 63Substrate bindingBy similarity3
Regioni78 – 81Substrate bindingBy similarity4

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG4073. Eukaryota.
COG2154. LUCA.
GeneTreeiENSGT00390000007221.
HOGENOMiHOG000007680.
HOVERGENiHBG000259.
InParanoidiP61457.
KOiK01724.
OMAiAVGWNEV.
OrthoDBiEOG091G120V.
PhylomeDBiP61457.
TreeFamiTF300188.

Family and domain databases

Gene3Di3.30.1360.20. 1 hit.
HAMAPiMF_00434. Pterin_4_alpha. 1 hit.
InterProiView protein in InterPro
IPR036428. PCD_sf.
IPR001533. Pterin_deHydtase.
PfamiView protein in Pfam
PF01329. Pterin_4a. 1 hit.
SUPFAMiSSF55248. SSF55248. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P61457-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAGKAHRLSA EERDQLLPNL RAVGWNELEG RDAIFKQFHF KDFNRAFGFM
60 70 80 90 100
TRVALQAEKL DHHPEWFNVY NKVHITLSTH ECAGLSERDI NLASFIEQVA

VSMT
Length:104
Mass (Da):12,000
Last modified:January 23, 2007 - v2
Checksum:i997DF8C2417FE5F5
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00552779T → I in hyperphenylalaninemia. Corresponds to variant dbSNP:rs121913014Ensembl.1
Natural variantiVAR_00552882C → R in HPABH4D; mild form. 1 PublicationCorresponds to variant dbSNP:rs104894177Ensembl.1
Natural variantiVAR_00552988R → Q in HPABH4D. 1 PublicationCorresponds to variant dbSNP:rs115117837Ensembl.1
Natural variantiVAR_00553097E → K in HPABH4D; mild form. 1 PublicationCorresponds to variant dbSNP:rs397518416Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M83742 mRNA. No translation available.
L41560 Genomic DNA. Translation: AAA69662.1.
L41559 mRNA. Translation: AAA69663.1.
AF082858 mRNA. Translation: AAD25732.1.
BC006324 mRNA. Translation: AAH06324.1.
CCDSiCCDS31217.1.
PIRiA47010.
RefSeqiNP_000272.1. NM_000281.3.
NP_001276726.1. NM_001289797.1.
UniGeneiHs.3192.

Genome annotation databases

EnsembliENST00000299299; ENSP00000299299; ENSG00000166228.
GeneIDi5092.
KEGGihsa:5092.
UCSCiuc001jrn.3. human.

Similar proteinsi

Entry informationi

Entry nameiPHS_HUMAN
AccessioniPrimary (citable) accession number: P61457
Secondary accession number(s): P70519, P80095, Q9D930
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: January 23, 2007
Last modified: October 25, 2017
This is version 140 of the entry and version 2 of the sequence. See 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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