Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Pterin-4-alpha-carbinolamine dehydratase

Gene

PCBD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
SIGNORiP61457

Protein family/group databases

MoonDBiP61457 Curated

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
MIMi126090 gene
neXtProtiNX_P61457

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:rs104894177EnsemblClinVar.1
Natural variantiVAR_00552988R → Q in HPABH4D. 1 PublicationCorresponds to variant dbSNP:rs115117837EnsemblClinVar.1
Natural variantiVAR_00553097E → K in HPABH4D; mild form. 1 PublicationCorresponds to variant dbSNP:rs397518416EnsemblClinVar.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
ProteomicsDBi57301

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, 75 interactors
IntActiP61457, 52 interactors
MINTiP61457
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:rs121913014EnsemblClinVar.1
Natural variantiVAR_00552882C → R in HPABH4D; mild form. 1 PublicationCorresponds to variant dbSNP:rs104894177EnsemblClinVar.1
Natural variantiVAR_00552988R → Q in HPABH4D. 1 PublicationCorresponds to variant dbSNP:rs115117837EnsemblClinVar.1
Natural variantiVAR_00553097E → K in HPABH4D; mild form. 1 PublicationCorresponds to variant dbSNP:rs397518416EnsemblClinVar.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: July 18, 2018
This is version 147 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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health