Details for: PCBD1

Gene ID: 5092

Symbol: PCBD1

Ensembl ID: ENSG00000166228

Description: pterin-4 alpha-carbinolamine dehydratase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 241.5535
    Cell Significance Index: -37.5700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 105.6207
    Cell Significance Index: -26.7900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 99.7700
    Cell Significance Index: -41.1000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 87.6149
    Cell Significance Index: -41.3700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 77.8016
    Cell Significance Index: -40.0200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 61.9354
    Cell Significance Index: -41.5600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 31.0514
    Cell Significance Index: -38.2900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.6136
    Cell Significance Index: -33.7900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.8377
    Cell Significance Index: -38.8200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.1927
    Cell Significance Index: -28.2400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 7.8605
    Cell Significance Index: 62.7600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 4.7260
    Cell Significance Index: 43.5200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 4.2492
    Cell Significance Index: 115.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 3.8516
    Cell Significance Index: 200.0800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 3.7471
    Cell Significance Index: 86.5700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 3.2263
    Cell Significance Index: 27.1000
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 2.7586
    Cell Significance Index: 29.3100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.3621
    Cell Significance Index: 425.8100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.2613
    Cell Significance Index: 1234.9700
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 2.1442
    Cell Significance Index: 8.2100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.9476
    Cell Significance Index: 239.4700
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 1.7744
    Cell Significance Index: 10.9200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.6264
    Cell Significance Index: 277.7100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.6020
    Cell Significance Index: 206.9700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.5831
    Cell Significance Index: 17.2100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.5807
    Cell Significance Index: 71.6500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.5700
    Cell Significance Index: 23.5300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.5680
    Cell Significance Index: 73.7000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.3333
    Cell Significance Index: 62.1700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.3332
    Cell Significance Index: 183.0900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.2026
    Cell Significance Index: 89.6300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.1646
    Cell Significance Index: 31.2100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.1547
    Cell Significance Index: 24.1700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.0968
    Cell Significance Index: 38.1200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.9354
    Cell Significance Index: 66.1600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9140
    Cell Significance Index: 181.3900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.8956
    Cell Significance Index: 23.5500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.8645
    Cell Significance Index: 18.7300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.8378
    Cell Significance Index: 43.9900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.7706
    Cell Significance Index: 5.9400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6504
    Cell Significance Index: 287.5500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.6391
    Cell Significance Index: 18.7700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6253
    Cell Significance Index: 61.8600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5339
    Cell Significance Index: 86.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5229
    Cell Significance Index: 67.0300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4104
    Cell Significance Index: 48.4000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.3778
    Cell Significance Index: 286.0000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3309
    Cell Significance Index: 62.9700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.3132
    Cell Significance Index: 10.0300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2144
    Cell Significance Index: 14.8300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1725
    Cell Significance Index: 61.8600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1402
    Cell Significance Index: 9.0500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1370
    Cell Significance Index: 27.4800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.1259
    Cell Significance Index: 1.4300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1117
    Cell Significance Index: 81.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0982
    Cell Significance Index: 6.1900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0942
    Cell Significance Index: 2.7000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0333
    Cell Significance Index: 0.7100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0167
    Cell Significance Index: 0.2800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0139
    Cell Significance Index: 26.0900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0088
    Cell Significance Index: 0.2300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0005
    Cell Significance Index: -0.0200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0030
    Cell Significance Index: -0.3100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0054
    Cell Significance Index: -4.0300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0161
    Cell Significance Index: -10.0500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0166
    Cell Significance Index: -30.5700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0176
    Cell Significance Index: -27.0500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0199
    Cell Significance Index: -27.0500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0243
    Cell Significance Index: -0.6500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0284
    Cell Significance Index: -19.6300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0302
    Cell Significance Index: -2.4000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0304
    Cell Significance Index: -19.3200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0402
    Cell Significance Index: -22.6500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0498
    Cell Significance Index: -10.5000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0573
    Cell Significance Index: -6.5600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0739
    Cell Significance Index: -33.5200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0894
    Cell Significance Index: -10.2100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1036
    Cell Significance Index: -29.8200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1056
    Cell Significance Index: -2.9500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1212
    Cell Significance Index: -1.2600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1417
    Cell Significance Index: -20.6000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2222
    Cell Significance Index: -25.9000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2507
    Cell Significance Index: -3.4200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3616
    Cell Significance Index: -37.6600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3716
    Cell Significance Index: -28.5100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3965
    Cell Significance Index: -24.3700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.4037
    Cell Significance Index: -5.1700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4926
    Cell Significance Index: -33.1200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.5208
    Cell Significance Index: -29.2300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.5324
    Cell Significance Index: -13.6000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.5769
    Cell Significance Index: -29.1600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.5856
    Cell Significance Index: -24.0000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5953
    Cell Significance Index: -17.5400
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.6389
    Cell Significance Index: -11.2900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.6391
    Cell Significance Index: -4.3300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.6426
    Cell Significance Index: -7.6600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.6595
    Cell Significance Index: -11.1100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6648
    Cell Significance Index: -40.7600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6658
    Cell Significance Index: -34.6800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8037
    Cell Significance Index: -35.5500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PCBD1 is a dehydratase enzyme that catalyzes the conversion of pterin-4 alpha-carbinolamine to pterin-4 alpha-carboxylate, a critical step in the biosynthesis of BH4. This enzyme is highly specific, with a narrow substrate specificity, and is involved in the regulation of phenylalanine and tyrosine metabolism. The expression of PCBD1 is significantly upregulated in response to changes in phenylalanine and tyrosine levels, highlighting its role as a key regulator in the metabolism of these amino acids. **Pathways and Functions:** PCBD1 is involved in several key pathways, including: 1. **Phenylalanine and Tyrosine Metabolism:** PCBD1 plays a critical role in the conversion of phenylalanine to tyrosine, a process that requires the presence of BH4 as a cofactor. The enzyme is essential for maintaining the balance of phenylalanine and tyrosine levels in the body. 2. **BH4 Biosynthesis:** PCBD1 is involved in the biosynthesis of BH4, a critical cofactor for phenylalanine hydroxylase and tyrosine hydroxylase. BH4 is essential for the conversion of phenylalanine to tyrosine and tyrosine to L-DOPA. 3. **Metabolism of Amino Acids and Derivatives:** PCBD1 is involved in the metabolism of amino acids and derivatives, including phenylalanine and tyrosine. The enzyme plays a critical role in regulating the levels of these amino acids in the body. **Clinical Significance:** Dysregulation of PCBD1 has significant clinical implications, including: 1. **Phenylketonuria (PKU):** PCBD1 is involved in the biosynthesis of BH4, which is essential for the conversion of phenylalanine to tyrosine. Mutations in the PCBD1 gene can lead to PKU, a genetic disorder characterized by elevated levels of phenylalanine in the blood. 2. **Tyrosinemia:** PCBD1 is involved in the biosynthesis of BH4, which is essential for the conversion of tyrosine to L-DOPA. Mutations in the PCBD1 gene can lead to tyrosinemia, a genetic disorder characterized by elevated levels of tyrosine in the blood. 3. **Neurodegenerative Diseases:** PCBD1 is involved in the regulation of phenylalanine and tyrosine metabolism, which is critical for maintaining neuronal health. Dysregulation of PCBD1 has been implicated in various neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. In conclusion, PCBD1 is a critical enzyme involved in the biosynthesis of BH4, a cofactor essential for the conversion of phenylalanine to tyrosine and tyrosine to L-DOPA. Dysregulation of PCBD1 has significant clinical implications, including PKU, tyrosinemia, and neurodegenerative diseases. Further research is necessary to fully understand the mechanisms by which PCBD1 regulates phenylalanine and tyrosine metabolism and to develop effective therapeutic strategies for the treatment of related diseases.

Genular Protein ID: 2929188913

Symbol: PHS_HUMAN

Name: Pterin-4-alpha-carbinolamine dehydratase

UniProtKB Accession Codes:

P61457 P70519 P80095 Q9D930

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 3 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 5 Ensembl 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MoonDB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1763325

Title: Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein.

PubMed ID: 1763325

DOI: 10.1126/science.1763325

PubMed ID: 7763270

Title: Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha.

PubMed ID: 7763270

DOI: 10.1006/bbrc.1995.1751

PubMed ID: 10098606

Title: Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1.

PubMed ID: 10098606

DOI: 10.1089/104454999315466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8444860

Title: Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence.

PubMed ID: 8444860

DOI: 10.1016/s0021-9258(18)53471-2

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 8352282

Title: Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

PubMed ID: 8352282

PubMed ID: 8618906

Title: Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia.

PubMed ID: 8618906

DOI: 10.1073/pnas.92.26.12384

PubMed ID: 9585615

Title: Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

PubMed ID: 9585615

DOI: 10.1086/301887

PubMed ID: 9760199

Title: Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

PubMed ID: 9760199

DOI: 10.1007/s004390050800

PubMed ID: 24204001

Title: Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

PubMed ID: 24204001

DOI: 10.1681/asn.2013040337

Sequence Information:

  • Length: 104
  • Mass: 12000
  • Checksum: 997DF8C2417FE5F5
  • Sequence:
    • MAGKAHRLSA EERDQLLPNL RAVGWNELEG RDAIFKQFHF KDFNRAFGFM TRVALQAEKL 
DHHPEWFNVY NKVHITLSTH ECAGLSERDI NLASFIEQVA VSMT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.