Details for: GCH1

Gene ID: 2643

Symbol: GCH1

Ensembl ID: ENSG00000131979

Description: GTP cyclohydrolase 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: 90.1346
    Cell Significance Index: -14.0200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 53.8551
    Cell Significance Index: -13.6600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 35.1009
    Cell Significance Index: -14.2600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 30.3663
    Cell Significance Index: -15.6200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 22.6967
    Cell Significance Index: -15.2300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 14.9569
    Cell Significance Index: -14.2800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.3224
    Cell Significance Index: -13.9600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.2186
    Cell Significance Index: -13.9800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.6391
    Cell Significance Index: -14.3600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.7837
    Cell Significance Index: -8.5500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.3394
    Cell Significance Index: -5.1200
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 2.0593
    Cell Significance Index: 31.8600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.0237
    Cell Significance Index: 34.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.4691
    Cell Significance Index: 145.3300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.4496
    Cell Significance Index: 75.3000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.3762
    Cell Significance Index: 39.4500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.2952
    Cell Significance Index: 1169.4400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9975
    Cell Significance Index: 27.1500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.9465
    Cell Significance Index: 56.8200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9304
    Cell Significance Index: 184.6400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7984
    Cell Significance Index: 129.8600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.7661
    Cell Significance Index: 14.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6739
    Cell Significance Index: 19.4200
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.6433
    Cell Significance Index: 4.6200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5807
    Cell Significance Index: 26.3200
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.5566
    Cell Significance Index: 9.8400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5526
    Cell Significance Index: 105.1700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5240
    Cell Significance Index: 36.2400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4955
    Cell Significance Index: 57.7500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3670
    Cell Significance Index: 7.9500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3438
    Cell Significance Index: 13.0200
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.3259
    Cell Significance Index: 2.7700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2751
    Cell Significance Index: 33.8300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2383
    Cell Significance Index: 42.9600
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.2334
    Cell Significance Index: 1.4500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2235
    Cell Significance Index: 9.8900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2202
    Cell Significance Index: 10.3500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.2023
    Cell Significance Index: 2.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1742
    Cell Significance Index: 6.1200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1714
    Cell Significance Index: 4.7900
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.1698
    Cell Significance Index: 0.5000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1665
    Cell Significance Index: 19.6400
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.1556
    Cell Significance Index: 1.5700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.1356
    Cell Significance Index: 2.2800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1216
    Cell Significance Index: 24.3900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1199
    Cell Significance Index: 15.4900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1145
    Cell Significance Index: 7.7000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1089
    Cell Significance Index: 2.8000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.1047
    Cell Significance Index: 11.9600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0859
    Cell Significance Index: 1.8300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0842
    Cell Significance Index: 37.2200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0743
    Cell Significance Index: 1.9900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0723
    Cell Significance Index: 5.3900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0685
    Cell Significance Index: 37.4200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0488
    Cell Significance Index: 0.7200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0247
    Cell Significance Index: 46.5400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0237
    Cell Significance Index: 16.3700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0208
    Cell Significance Index: 0.9700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0156
    Cell Significance Index: 9.9000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0121
    Cell Significance Index: 2.0600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0106
    Cell Significance Index: 0.2200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0067
    Cell Significance Index: 2.4000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0001
    Cell Significance Index: 0.1000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0042
    Cell Significance Index: -7.6600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0043
    Cell Significance Index: -0.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0048
    Cell Significance Index: -7.3700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0082
    Cell Significance Index: -11.1100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0085
    Cell Significance Index: -5.2900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0106
    Cell Significance Index: -8.0100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0121
    Cell Significance Index: -1.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0157
    Cell Significance Index: -8.8800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0196
    Cell Significance Index: -14.3800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0220
    Cell Significance Index: -4.6300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0221
    Cell Significance Index: -10.0200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0356
    Cell Significance Index: -10.2400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0374
    Cell Significance Index: -3.8200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0407
    Cell Significance Index: -5.6000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0409
    Cell Significance Index: -5.2400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0525
    Cell Significance Index: -6.0200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0532
    Cell Significance Index: -0.4900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0755
    Cell Significance Index: -5.3400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0768
    Cell Significance Index: -2.0500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0893
    Cell Significance Index: -4.6500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0909
    Cell Significance Index: -1.2400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1108
    Cell Significance Index: -8.5000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1219
    Cell Significance Index: -12.6900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1367
    Cell Significance Index: -8.8200
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1496
    Cell Significance Index: -1.2200
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.1656
    Cell Significance Index: -1.7600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1733
    Cell Significance Index: -2.9700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1891
    Cell Significance Index: -14.9800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1898
    Cell Significance Index: -6.0800
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: -0.1942
    Cell Significance Index: -2.1400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2026
    Cell Significance Index: -5.9500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2088
    Cell Significance Index: -12.8000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2247
    Cell Significance Index: -14.1600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2253
    Cell Significance Index: -12.6400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2385
    Cell Significance Index: -2.7100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2437
    Cell Significance Index: -3.4900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2564
    Cell Significance Index: -15.7600

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:** 1. **Location and Expression:** GCH1 is primarily expressed in the cytosol of sympathetic neurons, hepatoblasts, chromaffin cells, and other cell types involved in blood pressure regulation and cardiovascular function. 2. **Function:** GCH1 catalyzes the rate-limiting step in the BH4 biosynthetic pathway, converting GTP to 6,7-DMP. 3. **BH4 Biosynthesis:** BH4 is a critical cofactor for NOS, which is responsible for synthesizing nitric oxide (NO). NO modulates vascular tone, regulates blood pressure, and maintains endothelial function. 4. **Regulation:** GCH1 is negatively regulated by BH4, creating a feedback loop that maintains BH4 homeostasis. **Pathways and Functions:** 1. **BH4 Biosynthesis:** GCH1 is the rate-limiting enzyme in the BH4 biosynthetic pathway, which involves the conversion of GTP to 6,7-DMP. 2. **Nitric Oxide Synthesis:** BH4 is a critical cofactor for NOS, which synthesizes NO. NO regulates vascular tone, modulates blood pressure, and maintains endothelial function. 3. **Vasodilation:** BH4, synthesized by GCH1, plays a crucial role in vasodilation, a process that regulates blood pressure and flow. 4. **Oxidative Stress:** Deficiencies in GCH1 have been implicated in oxidative stress, which can lead to cardiovascular disease and neurodegenerative disorders. **Clinical Significance:** 1. **Hypertension:** Deficiencies in GCH1 have been implicated in hypertension, a condition characterized by elevated blood pressure. 2. **Cardiovascular Disease:** GCH1 deficiency has been linked to cardiovascular disease, including atherosclerosis and cardiac dysfunction. 3. **Neurodegenerative Disorders:** GCH1 deficiency has been implicated in neurodegenerative disorders, including Parkinson's disease and Huntington's disease. 4. **BH4 Deficiency:** BH4 deficiency can lead to impaired NOS activity, resulting in reduced NO production and increased oxidative stress. In conclusion, GCH1 is a critical enzyme involved in the biosynthesis of BH4, a vital cofactor for NOS. Deficiencies in GCH1 have been implicated in various diseases, including hypertension, cardiovascular disease, and neurodegenerative disorders. Further research is necessary to fully understand the role of GCH1 in human health and disease.

Genular Protein ID: 855970290

Symbol: GCH1_HUMAN

Name: GTP cyclohydrolase 1

UniProtKB Accession Codes:

P30793 Q6FHY7 Q9Y4I8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 18 EMDB 2 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 42 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 11 PIR 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 Rhea 1 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1520321

Title: Multiple mRNA forms of human GTP cyclohydrolase I.

PubMed ID: 1520321

DOI: 10.1016/s0006-291x(05)81501-3

PubMed ID: 8068008

Title: Human GTP cyclohydrolase I: only one out of three cDNA isoforms gives rise to the active enzyme.

PubMed ID: 8068008

DOI: 10.1042/bj3020215

PubMed ID: 8695054

Title: Isolation of a full-length cDNA clone for human GTP cyclohydrolase I type 1 from pheochromocytoma.

PubMed ID: 8695054

DOI: 10.1007/bf01271561

PubMed ID: 11284739

Title: GTP cyclohydrolase I mRNA: novel splice variants in the slime mould Physarum polycephalum and in human monocytes (THP-1) indicate conservation of mRNA processing.

PubMed ID: 11284739

DOI: 10.1042/0264-6021:3550499

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: 8666288

Title: Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I.

PubMed ID: 8666288

DOI: 10.1016/0378-1119(95)00886-1

PubMed ID: 1482676

Title: Species and tissue specificity of mammalian GTP cyclohydrolase I messenger RNA.

PubMed ID: 1482676

DOI: 10.1016/0167-4781(92)90112-d

PubMed ID: 7730309

Title: Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency.

PubMed ID: 7730309

DOI: 10.1074/jbc.270.17.10062

PubMed ID: 3753653

Title: The application of 8-aminoguanosine triphosphate, a new inhibitor of GTP cyclohydrolase I, to the purification of the enzyme from human liver.

PubMed ID: 3753653

DOI: 10.1016/0304-4165(86)90115-7

PubMed ID: 2500984

Title: Human liver GTP cyclohydrolase I: purification and some properties.

PubMed ID: 2500984

DOI: 10.1016/0300-9084(89)90006-0

PubMed ID: 2463916

Title: Purification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodies.

PubMed ID: 2463916

DOI: 10.1111/j.1432-1033.1989.tb14491.x

PubMed ID: 7678411

Title: Pteridine biosynthesis in human endothelial cells. Impact on nitric oxide-mediated formation of cyclic GMP.

PubMed ID: 7678411

DOI: 10.1016/s0021-9258(18)53931-4

PubMed ID: 9222755

Title: Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

PubMed ID: 9222755

DOI: 10.1002/(sici)1098-1004(1997)10:1<11::aid-humu2>3.0.co;2-p

PubMed ID: 9445252

Title: Cytokines stimulate GTP cyclohydrolase I gene expression in cultured human umbilical vein endothelial cells.

PubMed ID: 9445252

DOI: 10.1161/01.atv.18.1.27

PubMed ID: 12176133

Title: GTP cyclohydrolase I gene transfer augments intracellular tetrahydrobiopterin in human endothelial cells: effects on nitric oxide synthase activity, protein levels and dimerisation.

PubMed ID: 12176133

DOI: 10.1016/s0008-6363(02)00460-1

PubMed ID: 12002810

Title: cAMP inhibits cytokine-induced biosynthesis of tetrahydrobiopterin in human umbilical vein endothelial cells.

PubMed ID: 12002810

DOI: 10.1016/s0024-3205(02)01503-5

PubMed ID: 12607127

Title: Role of human GTP cyclohydrolase I and its regulatory protein in tetrahydrobiopterin metabolism.

PubMed ID: 12607127

DOI: 10.1007/s00395-003-0394-y

PubMed ID: 14646243

Title: cGMP inhibits GTP cyclohydrolase I activity and biosynthesis of tetrahydrobiopterin in human umbilical vein endothelial cells.

PubMed ID: 14646243

DOI: 10.1254/jphs.93.265

PubMed ID: 14717702

Title: GTP cyclohydrolase I utilizes metal-free GTP as its substrate.

PubMed ID: 14717702

DOI: 10.1046/j.1432-1033.2003.03933.x

PubMed ID: 16338639

Title: The assays of activities and function of TH, AADC, and GCH1 and their potential use in ex vivo gene therapy of PD.

PubMed ID: 16338639

DOI: 10.1016/j.brainresprot.2005.10.005

PubMed ID: 15604419

Title: Cytokine-stimulated GTP cyclohydrolase I expression in endothelial cells requires coordinated activation of nuclear factor-kappaB and Stat1/Stat3.

PubMed ID: 15604419

DOI: 10.1161/01.res.0000153669.24827.df

PubMed ID: 15649650

Title: Changes in tetrahydrobiopterin levels in endothelial cells and adult cardiomyocytes induced by LPS and hydrogen peroxide -- a role for GFRP?

PubMed ID: 15649650

DOI: 10.1016/j.freeradbiomed.2004.11.004

PubMed ID: 16848765

Title: Interaction of human GTP cyclohydrolase I with its splice variants.

PubMed ID: 16848765

DOI: 10.1042/bj20060765

PubMed ID: 16778797

Title: GTP cyclohydrolase feedback regulatory protein controls cofactor 6-tetrahydrobiopterin synthesis in the cytosol and in the nucleus of epidermal keratinocytes and melanocytes.

PubMed ID: 16778797

DOI: 10.1038/sj.jid.5700425

PubMed ID: 16696853

Title: A yeast 2-hybrid analysis of human GTP cyclohydrolase I protein interactions.

PubMed ID: 16696853

DOI: 10.1111/j.1471-4159.2006.03836.x

PubMed ID: 17057711

Title: GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence.

PubMed ID: 17057711

DOI: 10.1038/nm1490

PubMed ID: 17704208

Title: Regulation of tetrahydrobiopterin biosynthesis by shear stress.

PubMed ID: 17704208

DOI: 10.1161/circresaha.107.153809

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 11087827

Title: Zinc plays a key role in human and bacterial GTP cyclohydrolase I.

PubMed ID: 11087827

DOI: 10.1073/pnas.240463497

PubMed ID: 7874165

Title: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

PubMed ID: 7874165

DOI: 10.1038/ng1194-236

PubMed ID: 7501255

Title: GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

PubMed ID: 7501255

DOI: 10.1016/0304-3940(95)11820-m

PubMed ID: 8957022

Title: Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.

PubMed ID: 8957022

DOI: 10.1002/ana.410400517

PubMed ID: 8852666

Title: Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.

PubMed ID: 8852666

DOI: 10.1093/hmg/5.3.403

PubMed ID: 9120469

Title: A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.

PubMed ID: 9120469

DOI: 10.1136/jnnp.62.4.420

PubMed ID: 9328244

Title: GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.

PubMed ID: 9328244

DOI: 10.1136/jnnp.63.3.304

PubMed ID: 9667588

Title: Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.

PubMed ID: 9667588

DOI: 10.1002/ana.410440107

PubMed ID: 9778264

Title: Dopa-responsive dystonia: a clinical and molecular genetic study.

PubMed ID: 9778264

DOI: 10.1002/ana.410440411

PubMed ID: 10987649

Title: Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

PubMed ID: 10987649

DOI: 10.1007/s004390051093

PubMed ID: 10582612

Title: Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.

PubMed ID: 10582612

DOI: 10.1046/j.1471-4159.1999.0732510.x

PubMed ID: 10208576

Title: A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.

PubMed ID: 10208576

DOI: 10.1097/00001756-199902250-00008

PubMed ID: 10076897

Title: A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.

PubMed ID: 10076897

DOI: 10.1016/s0304-3940(98)00984-7

PubMed ID: 10825351

Title: Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

PubMed ID: 10825351

DOI: 10.1093/brain/123.6.1112

PubMed ID: 11113234

Title: Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.

PubMed ID: 11113234

DOI: 10.1212/wnl.55.11.1735

PubMed ID: 12391354

Title: Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

PubMed ID: 12391354

DOI: 10.1212/wnl.59.8.1241

PubMed ID: 17101830

Title: Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.

PubMed ID: 17101830

DOI: 10.1001/archneur.63.11.1605

PubMed ID: 23762320

Title: GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

PubMed ID: 23762320

DOI: 10.1371/journal.pone.0065215

Sequence Information:

  • Length: 250
  • Mass: 27903
  • Checksum: B8A0CB344C598B9A
  • Sequence:
    • MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS 
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA 
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ 
VQERLTKQIA VAITEALRPA GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT 
REEFLTLIRS

Genular Protein ID: 738948355

Symbol: Q8IZH9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8IZH9

Database IDs:

ARBA 12 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 2 HAMAP 1 InterPro 5 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SUPFAM 1 UniPathway 1

Sequence Information:

  • Length: 177
  • Mass: 19971
  • Checksum: 038950A12D43CF14
  • Sequence:
    • AYSSILSSLG ENPQRQGLLK TPWRAASAMQ FFTKGYQETI SDVLNDAIFD EDHDEMVIVK 
DIDMFSMCEH HLVPFVGKVH IGYLPNKQVL GLSKLARIVE IYSRRLQVQE RLTKQIAVAI 
TEALRPAGVG VVVEATHMCM VMRGVQKMNS KTVTSTMLGV FREDPKTREE FLTLIRS

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.