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Protein

Pterin-4-alpha-carbinolamine dehydratase 2

Gene

PCBD2

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 (By similarity).By similarity
Regulates the dimerization of homeodomain protein HNF-1-alpha and enhances its transcriptional activity.1 Publication

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

GO - Biological processi

Keywordsi

Molecular functionLyase
Biological processTetrahydrobiopterin biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS13433-MONOMER
BRENDAi4.2.1.96 2681

Names & Taxonomyi

Protein namesi
Recommended name:
Pterin-4-alpha-carbinolamine dehydratase 2 (EC:4.2.1.96)
Short name:
PHS 2
Alternative name(s):
4-alpha-hydroxy-tetrahydropterin dehydratase 2
DcoH-like protein DCoHm
Dimerization cofactor of hepatocyte nuclear factor 1 from muscle
HNF-1-alpha dimerization cofactor
Gene namesi
Name:PCBD2
Synonyms:DCOH2, DCOHM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000132570.14
HGNCiHGNC:24474 PCBD2
MIMi609836 gene
neXtProtiNX_Q9H0N5

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi84105
OpenTargetsiENSG00000132570
PharmGKBiPA142671197

Polymorphism and mutation databases

BioMutaiPCBD2
DMDMi239938927

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000630571 – 130Pterin-4-alpha-carbinolamine dehydratase 2Add BLAST130

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei114N6-acetyllysine; alternateBy similarity1
Modified residuei114N6-succinyllysine; alternateBy similarity1
Modified residuei118N6-acetyllysine; alternateBy similarity1
Modified residuei118N6-succinyllysine; alternateBy similarity1
Modified residuei125N6-acetyllysine; alternateBy similarity1
Modified residuei125N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9H0N5
MaxQBiQ9H0N5
PaxDbiQ9H0N5
PeptideAtlasiQ9H0N5
PRIDEiQ9H0N5
ProteomicsDBi80304

PTM databases

iPTMnetiQ9H0N5
PhosphoSitePlusiQ9H0N5

Expressioni

Gene expression databases

BgeeiENSG00000132570
CleanExiHS_PCBD2
ExpressionAtlasiQ9H0N5 baseline and differential
GenevisibleiQ9H0N5 HS

Organism-specific databases

HPAiHPA036428

Interactioni

Subunit structurei

Homotetramer. Interacts with DYRK1B.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi123893, 34 interactors
IntActiQ9H0N5, 10 interactors
STRINGi9606.ENSP00000254908

Structurei

Secondary structure

1130
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi37 – 49Combined sources13
Beta strandi56 – 59Combined sources4
Beta strandi61 – 66Combined sources6
Helixi70 – 87Combined sources18
Beta strandi92 – 96Combined sources5
Beta strandi99 – 104Combined sources6
Turni107 – 110Combined sources4
Helixi114 – 128Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4C45X-ray1.45A28-130[»]
ProteinModelPortaliQ9H0N5
SMRiQ9H0N5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG4073 Eukaryota
COG2154 LUCA
GeneTreeiENSGT00390000007221
HOGENOMiHOG000007680
HOVERGENiHBG000259
InParanoidiQ9H0N5
KOiK01724
OMAiYKEFSFK
OrthoDBiEOG091G120V
PhylomeDBiQ9H0N5
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.

Q9H0N5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAVLGALGA TRRLLAALRG QSLGLAAMSS GTHRLTAEER NQAILDLKAA
60 70 80 90 100
GWSELSERDA IYKEFSFHNF NQAFGFMSRV ALQAEKMNHH PEWFNVYNKV
110 120 130
QITLTSHDCG ELTKKDVKLA KFIEKAAASV
Length:130
Mass (Da):14,365
Last modified:June 16, 2009 - v4
Checksum:i7B834F95D7ACD1EE
GO

Sequence cautioni

The sequence AAM18136 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti36T → I in CAB66655 (PubMed:11230166).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136721 mRNA Translation: CAB66655.1
AC006077 Genomic DNA No translation available.
AC008670 Genomic DNA No translation available.
BC054021 mRNA Translation: AAH54021.1
AF499009 mRNA Translation: AAM18136.1 Different initiation.
CCDSiCCDS43364.1
RefSeqiNP_115527.3, NM_032151.4
UniGeneiHs.710014

Genome annotation databases

EnsembliENST00000254908; ENSP00000254908; ENSG00000132570
ENST00000512783; ENSP00000421544; ENSG00000132570
GeneIDi84105
KEGGihsa:84105
UCSCiuc010jdz.4 human

Similar proteinsi

Entry informationi

Entry nameiPHS2_HUMAN
AccessioniPrimary (citable) accession number: Q9H0N5
Secondary accession number(s): Q8TD40
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2001
Last sequence update: June 16, 2009
Last modified: June 20, 2018
This is version 140 of the entry and version 4 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

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