2. Gene
  3. PCBD1 - pterin-4 alpha-carbinolamine dehydratase 1 Gene

PCBD1 - pterin-4 alpha-carbinolamine dehydratase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PCD; PHS; DCOH; PCBD

Gene ID: 5092 | Gene type: protein coding

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 Reference 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

Pterin_4a: Pterin 4 alpha carbinolamine dehydratase (4 - 100)

  • 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 Reference
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%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10113 PCBD1 Human Pre-designed siRNA Set A Pre-designed Sets / 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