PCBD1 - pterin-4 alpha-carbinolamine dehydratase 1 Gene

Also Known as PCD; PHS; DCOH; PCBD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5092

About PCBD1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:70,882,280-70,888,565 (from NCBI)

This gene has 3 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 47.7), kidney (RPKM 31.6) and 25 other tissues.

Summary

This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

PCBD1 Products (3)

mRNA	Protein	Name
NM_000281.4	NP_000272.1	pterin-4-alpha-carbinolamine dehydratase isoform 1
NM_001289797.2	NP_001276726.1	pterin-4-alpha-carbinolamine dehydratase isoform 3
NM_001323004.2	NP_001309933.1	pterin-4-alpha-carbinolamine dehydratase isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCBD1 Protein Structure

Pterin_4a

0
104 a.a.

Protein Preferred Names	Protein Names
pterin-4-alpha-carbinolamine dehydratase	4-alpha-hydroxy-tetrahydropterin dehydratase

PCBD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PCBD1	P61457	TFF3	Homo sapiens	Q07654	Validated Y2H	25416956
Intra	PCBD1	P61457	TFF3	Homo sapiens	Q07654	Validated Y2H	32296183
Intra	PCBD1	P61457	TFF3	Homo sapiens	Q07654	Y2H Array	25416956
Intra	PCBD1	P61457	KANK2	Homo sapiens	Q63ZY3	Validated Y2H	32296183
Intra	PCBD1	P61457	HNF1B	Homo sapiens	P35680	Anti Tag CoIP	33961781
Intra	PCBD1	P61457	HNF1B	Homo sapiens	P35680	Y2H Array	20211142
Intra	PCBD1	P61457	PCBD2	Homo sapiens	Q9H0N5	Anti Tag CoIP	33961781
Intra	PCBD1	P61457	PCBD2	Homo sapiens	Q9H0N5	Y2H Array	20211142
Intra	PCBD1	P61457	HNF1A	Homo sapiens	P20823	Y2H	21988832
Intra	PCBD1	P61457	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	29892012
Intra	PCBD1	P61457	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	31515488
Intra	PCBD1	P61457	GORASP2	Homo sapiens	Q9H8Y8	Y2H Pooling	16189514
Intra	PCBD1	P61457	GORASP2	Homo sapiens	Q9H8Y8	Validated Y2H	32296183
Intra	PCBD1	P61457	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	25416956
Intra	PCBD1	P61457	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	25416956
Intra	PCBD1	P61457	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	PCBD1	P61457	LNX1	Homo sapiens	Q8TBB1	Y2H Array	25416956
Intra	PCBD1	P61457	FXR2	Homo sapiens	P51116	Y2H Array	31515488
Intra	PCBD1	P61457	FXR2	Homo sapiens	P51116	Y2H Prey Pooling	25416956
Intra	PCBD1	P61457	FXR2	Homo sapiens	P51116	Validated Y2H	25416956
Intra	PCBD1	P61457	FXR2	Homo sapiens	P51116	Y2H Array	20211142
Intra	PCBD1	P61457	FXR2	Homo sapiens	P51116	Y2H Pooling	16189514
Intra	PCBD1	P61457	PCBD1	Homo sapiens	P61457	Validated Y2H	32296183
Intra	PCBD1	P61457	PCBD1	Homo sapiens	P61457	Y2H	21516116
Intra	PCBD1	P61457	PCBD1	Homo sapiens	P61457	Y2H Array	20211142
Intra	PCBD1	P61457	PCBD1	Homo sapiens	P61457	Pull Down	16189514
Intra	PCBD1	P61457	PCBD1	Homo sapiens	P61457	Y2H Prey Pooling	32296183
Intra	PCBD1	P61457	PCBD1	Homo sapiens	P61457	Y2H Array	25416956
Intra	PCBD1	P61457	PCBD1	Homo sapiens	P61457	Y2H Array	32296183
Intra	PCBD1	P61457	PCBD1	Homo sapiens	P61457	Y2H Pooling	16189514
Intra	PCBD1	P61457	NTAQ1	Homo sapiens	Q96HA8	Y2H Pooling	16189514
Intra	PCBD1	P61457	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	PCBD1	P61457	APP	Homo sapiens	P05067	Display Tech	20195357
Intra	PCBD1	P61457	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PCBD1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71203	PHS Protein, Human (His)	P61457-1 (A2-T104)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Hyperphenylalaninemia, Bh4-Deficient, D	Hyperphenylalaninemia With Primapterinuria Cadh Deficiency Pcbd Deficiency HPABH4D Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency Tetrahydrobiopterin -Deficient Hyperphenylalaninemia Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency Hyperphenylalaninemia Due To Dehydratase Deficiency Hyperphenylalaninemia Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency Bh4-Deficient Hyperphenylalaninemia D Dehydratase Deficiency Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Phs Deficiency Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency Phs Deficiency Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency Hyperphenylalaninemia, Bh4-Deficient, Type D
Hyperphenylalaninemia	Hyperphenylalaninaemia
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Sepiapterin Reductase Deficiency Spr Deficiency Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency Srd Drd Due To Srd Dopa-Responsive Hypersomnia Dyt-Spr Dyt/Park-Spr Sr-Deficient Drd Autosomal Recessive Sepiapterin Reductase-Deficient Drd Spr DRDSPRD Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency Psychomotor Disorders
Hyperphenylalaninemia, Bh4-Deficient, A	6-Pyruvoyl-Tetrahydropterin Synthase Deficiency Pts Deficiency HPABH4A Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency Ptsd Bh4-Deficient Hyperphenylalaninemia A Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency Hyperphenylalanemia, Bh4-Deficient, A Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 6-Pyruvoyltetrahydropterin Synthase Deficiency Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency Ptpsd Hyperphenylalaninemia, Bh4-Deficient, Type A
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo VAMAS1 Slev1 Vtlg Systemic Lupus Erythematosus, Vitiligo-Related Vitiligo-Associated Multiple Autoimmune Disease 1 Systemic Lupus Erythematosus Vitiligo-Related
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Aromatic L-Amino Acid Decarboxylase Deficiency	Aadc Deficiency Dopa Decarboxylase Deficiency Ddc Deficiency Aromatic Amino Acid Decarboxylase Deficiency Deficiency Of Aromatic-L-Amino-Acid Decarboxylase AADCD Aromatic-L-Amino-Acid Decarboxylase Deficiency Aromatic L-Amino-Acid Decarboxylase Deficiency
Pentosuria	Xylitol Dehydrogenase Deficiency L-Xylulosuria L-Xylulose Reductase Deficiency Essential Pentosuria PNTSU Essential Benign Pentosuria
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-Onset Diabetes Of The Young Type 3 MODY3 Mody, Type Iii Mody Type 3 Mody, Type 3 Maturity-Onset Diabetes Of The Young 3 Mody-3 Diabetes Of The Young, Maturity-Onset, Type 3
Brunner Syndrome	Monoamine Oxidase A Deficiency Antisocial Behavior BRNRS Deficiency Of Monoamine Oxidase A X-Linked Monoamine Oxidase Deficiency Susceptibility To Antisocial Behavior Antisocial Behavior, Susceptibility To Anti-Social Behavior
Dopamine Beta-Hydroxylase Deficiency	Noradrenaline Deficiency Norepinephrine Deficiency Dopamine Beta Hydroxylase Deficiency Congenital Dopamine Beta-Hydroxylase Deficiency Dopamine Beta-Hydroxylase Deficiency, Congenital Dopamine Β-Hydroxylase Dbh Deficiency
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10113	PCBD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PCBD1	VGNC	VGNC:75772
Bos taurus	PCBD1	VGNC	VGNC:32612
Felis catus	PCBD1	VGNC	VGNC:68711
Canis familiaris	PCBD1	VGNC	VGNC:44291
Rattus norvegicus	PCBD1	RGD	RGD:3263
Mus musculus	PCBD1	MGD	MGI:94873
Others	PCBD1	NCBI