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UniProtKB - Q9H0N5 (PHS2_HUMAN)
Protein
Pterin-4-alpha-carbinolamine dehydratase 2
Gene
PCBD2
Organism
Homo sapiens (Human)
Status
Functioni
Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity).
By similarityRegulates the dimerization of homeodomain protein HNF-1-alpha and enhances its transcriptional activity.
1 PublicationCatalytic activityi
- (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin = (6R)-L-erythro-6,7-dihydrobiopterin + H2OEC:4.2.1.96
GO - Molecular functioni
- 4-alpha-hydroxytetrahydrobiopterin dehydratase activity Source: GO_Central
- identical protein binding Source: Ensembl
- phenylalanine 4-monooxygenase activity Source: Ensembl
GO - Biological processi
- positive regulation of transcription, DNA-templated Source: UniProtKB
- tetrahydrobiopterin biosynthetic process Source: UniProtKB-KW
Keywordsi
Molecular function | Lyase |
Biological process | Tetrahydrobiopterin biosynthesis |
Enzyme and pathway databases
BRENDAi | 4.2.1.96, 2681 |
PathwayCommonsi | Q9H0N5 |
SignaLinki | Q9H0N5 |
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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24474, PCBD2 |
MIMi | 609836, gene |
neXtProti | NX_Q9H0N5 |
VEuPathDBi | HostDB:ENSG00000132570 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 84105 |
OpenTargetsi | ENSG00000132570 |
PharmGKBi | PA142671197 |
Miscellaneous databases
Pharosi | Q9H0N5, Tbio |
Genetic variation databases
BioMutai | PCBD2 |
DMDMi | 239938927 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000063057 | 1 – 130 | Pterin-4-alpha-carbinolamine dehydratase 2Add BLAST | 130 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 114 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 114 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 118 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 118 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 125 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 125 | N6-succinyllysine; alternateBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q9H0N5 |
jPOSTi | Q9H0N5 |
MassIVEi | Q9H0N5 |
MaxQBi | Q9H0N5 |
PaxDbi | Q9H0N5 |
PeptideAtlasi | Q9H0N5 |
PRIDEi | Q9H0N5 |
ProteomicsDBi | 80304 |
PTM databases
iPTMneti | Q9H0N5 |
PhosphoSitePlusi | Q9H0N5 |
Expressioni
Gene expression databases
Bgeei | ENSG00000132570, Expressed in skeletal muscle tissue and 200 other tissues |
ExpressionAtlasi | Q9H0N5, baseline and differential |
Genevisiblei | Q9H0N5, HS |
Organism-specific databases
HPAi | ENSG00000132570, Tissue enhanced (skeletal muscle, tongue) |
Interactioni
Subunit structurei
Homotetramer.
Interacts with DYRK1B.
1 PublicationBinary interactionsi
Q9H0N5
GO - Molecular functioni
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 123893, 44 interactors |
IntActi | Q9H0N5, 39 interactors |
STRINGi | 9606.ENSP00000421544 |
Miscellaneous databases
RNActi | Q9H0N5, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9H0N5 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the pterin-4-alpha-carbinolamine dehydratase family.Curated
Phylogenomic databases
eggNOGi | KOG4073, Eukaryota |
GeneTreei | ENSGT00390000007221 |
InParanoidi | Q9H0N5 |
OMAi | NTEDEFC |
OrthoDBi | 1588292at2759 |
PhylomeDBi | Q9H0N5 |
TreeFami | TF300188 |
Family and domain databases
Gene3Di | 3.30.1360.20, 1 hit |
HAMAPi | MF_00434, Pterin_4_alpha, 1 hit |
InterProi | View protein in InterPro IPR036428, PCD_sf IPR001533, Pterin_deHydtase |
PANTHERi | PTHR12599, PTHR12599, 1 hit |
Pfami | View protein in Pfam PF01329, Pterin_4a, 1 hit |
SUPFAMi | SSF55248, SSF55248, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9H0N5-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0YA52 | H0YA52_HUMAN | 4a-hydroxytetrahydrobiopterin dehyd... | PCBD2 | 119 | Annotation score: |
Sequence cautioni
The sequence AAM18136 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 36 | T → I in CAB66655 (PubMed:11230166).Curated | 1 |
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. |
CCDSi | CCDS43364.1 |
RefSeqi | NP_115527.3, NM_032151.4 |
Genome annotation databases
Ensembli | ENST00000254908; ENSP00000254908; ENSG00000132570 ENST00000512783; ENSP00000421544; ENSG00000132570 |
GeneIDi | 84105 |
KEGGi | hsa:84105 |
MANE-Selecti | ENST00000254908.11; ENSP00000254908.6; NM_032151.5; NP_115527.3 |
UCSCi | uc010jdz.4, human |
Similar proteinsi
Cross-referencesi
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. |
CCDSi | CCDS43364.1 |
RefSeqi | NP_115527.3, NM_032151.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4C45 | X-ray | 1.45 | A | 28-130 | [»] | |
SMRi | Q9H0N5 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123893, 44 interactors |
IntActi | Q9H0N5, 39 interactors |
STRINGi | 9606.ENSP00000421544 |
PTM databases
iPTMneti | Q9H0N5 |
PhosphoSitePlusi | Q9H0N5 |
Genetic variation databases
BioMutai | PCBD2 |
DMDMi | 239938927 |
Proteomic databases
EPDi | Q9H0N5 |
jPOSTi | Q9H0N5 |
MassIVEi | Q9H0N5 |
MaxQBi | Q9H0N5 |
PaxDbi | Q9H0N5 |
PeptideAtlasi | Q9H0N5 |
PRIDEi | Q9H0N5 |
ProteomicsDBi | 80304 |
Protocols and materials databases
Antibodypediai | 26376, 62 antibodies from 19 providers |
DNASUi | 84105 |
Genome annotation databases
Ensembli | ENST00000254908; ENSP00000254908; ENSG00000132570 ENST00000512783; ENSP00000421544; ENSG00000132570 |
GeneIDi | 84105 |
KEGGi | hsa:84105 |
MANE-Selecti | ENST00000254908.11; ENSP00000254908.6; NM_032151.5; NP_115527.3 |
UCSCi | uc010jdz.4, human |
Organism-specific databases
CTDi | 84105 |
DisGeNETi | 84105 |
GeneCardsi | PCBD2 |
HGNCi | HGNC:24474, PCBD2 |
HPAi | ENSG00000132570, Tissue enhanced (skeletal muscle, tongue) |
MIMi | 609836, gene |
neXtProti | NX_Q9H0N5 |
OpenTargetsi | ENSG00000132570 |
PharmGKBi | PA142671197 |
VEuPathDBi | HostDB:ENSG00000132570 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4073, Eukaryota |
GeneTreei | ENSGT00390000007221 |
InParanoidi | Q9H0N5 |
OMAi | NTEDEFC |
OrthoDBi | 1588292at2759 |
PhylomeDBi | Q9H0N5 |
TreeFami | TF300188 |
Enzyme and pathway databases
BRENDAi | 4.2.1.96, 2681 |
PathwayCommonsi | Q9H0N5 |
SignaLinki | Q9H0N5 |
Miscellaneous databases
BioGRID-ORCSi | 84105, 16 hits in 1048 CRISPR screens |
ChiTaRSi | PCBD2, human |
GeneWikii | PCBD2 |
GenomeRNAii | 84105 |
Pharosi | Q9H0N5, Tbio |
PROi | PR:Q9H0N5 |
RNActi | Q9H0N5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000132570, Expressed in skeletal muscle tissue and 200 other tissues |
ExpressionAtlasi | Q9H0N5, baseline and differential |
Genevisiblei | Q9H0N5, HS |
Family and domain databases
Gene3Di | 3.30.1360.20, 1 hit |
HAMAPi | MF_00434, Pterin_4_alpha, 1 hit |
InterProi | View protein in InterPro IPR036428, PCD_sf IPR001533, Pterin_deHydtase |
PANTHERi | PTHR12599, PTHR12599, 1 hit |
Pfami | View protein in Pfam PF01329, Pterin_4a, 1 hit |
SUPFAMi | SSF55248, SSF55248, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PHS2_HUMAN | |
Accessioni | Q9H0N5Primary (citable) accession number: Q9H0N5 Secondary accession number(s): Q8TD40 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 29, 2001 |
Last sequence update: | June 16, 2009 | |
Last modified: | February 23, 2022 | |
This is version 163 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families