Details for: GCH1

Gene ID: 2643

Symbol: GCH1

Ensembl ID: ENSG00000131979

Description: GTP cyclohydrolase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 2.91
    Marker Score: 961
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.88
    Marker Score: 6159
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.86
    Marker Score: 2624
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 1.6
    Marker Score: 3861
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168240
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 1.44
    Marker Score: 495.5
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.37
    Marker Score: 1166
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.26
    Marker Score: 42720
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.25
    Marker Score: 1837
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.24
    Marker Score: 642
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.23
    Marker Score: 12740
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.23
    Marker Score: 495
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.2
    Marker Score: 5173
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.18
    Marker Score: 2294
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.09
    Marker Score: 7015
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.07
    Marker Score: 5733
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251710.5
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1
    Marker Score: 56064
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71729
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47954
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30397
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.95
    Marker Score: 490
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2401
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 483
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 439
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.93
    Marker Score: 2179.5
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 0.92
    Marker Score: 2538
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.91
    Marker Score: 14250.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2710
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.9
    Marker Score: 1464
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.89
    Marker Score: 1296
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4872
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.84
    Marker Score: 285
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.82
    Marker Score: 225
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.81
    Marker Score: 350.5
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.8
    Marker Score: 288
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.8
    Marker Score: 250
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 601
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.78
    Marker Score: 721
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.78
    Marker Score: 293
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.77
    Marker Score: 1903
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.77
    Marker Score: 562
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.77
    Marker Score: 248
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.76
    Marker Score: 744
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 303
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 376
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.73
    Marker Score: 433
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.72
    Marker Score: 432.5
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.72
    Marker Score: 298
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.71
    Marker Score: 1245
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.71
    Marker Score: 483
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.7
    Marker Score: 478
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 617
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.67
    Marker Score: 431
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.67
    Marker Score: 2807.5
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.65
    Marker Score: 162
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.65
    Marker Score: 162
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.64
    Marker Score: 508
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.62
    Marker Score: 343
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 0.62
    Marker Score: 533
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.61
    Marker Score: 1713
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.61
    Marker Score: 1030
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.61
    Marker Score: 300
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.61
    Marker Score: 218
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.6
    Marker Score: 235
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.6
    Marker Score: 1504
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.6
    Marker Score: 136
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.6
    Marker Score: 5652
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.6
    Marker Score: 777
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.59
    Marker Score: 5853.5
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.57
    Marker Score: 670
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.56
    Marker Score: 594
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.56
    Marker Score: 2772
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.56
    Marker Score: 531
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.55
    Marker Score: 497
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.55
    Marker Score: 250
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.55
    Marker Score: 753
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.54
    Marker Score: 485.5
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.54
    Marker Score: 468
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.54
    Marker Score: 589
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 431
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 0.54
    Marker Score: 441
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.53
    Marker Score: 307
  • Cell Name: naive regulatory T cell (CL0002677)
    Fold Change: 0.53
    Marker Score: 160
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.53
    Marker Score: 2183
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.52
    Marker Score: 520
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.52
    Marker Score: 527
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.51
    Marker Score: 973
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.51
    Marker Score: 114.5
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.51
    Marker Score: 512
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.51
    Marker Score: 784
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.51
    Marker Score: 111
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 0.51
    Marker Score: 445
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 0.5
    Marker Score: 1456
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.49
    Marker Score: 129
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 0.48
    Marker Score: 408

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Other Information

**Key characteristics** * GCH1 is a single-pass membrane protein with a molecular weight of approximately 130 kDa. * It is expressed in a variety of cell types, including neurons, hepatocytes, and immune cells. * It is a key regulator of calcium signaling, and its activity is modulated by calcium ion concentration. * It also plays a role in protein-protein interactions and metabolism. **Pathways and functions** * GCH1 is involved in the regulation of calcium signaling. It is a key regulator of calcium release from intracellular stores, and its activity is modulated by calcium ion concentration. * It is also involved in the regulation of protein-protein interactions. It is a component of a complex that is responsible for the stability and function of the G protein-coupled receptor (GPCR) alpha-adrenoceptor. * GCH1 is also involved in metabolism. It is a key enzyme in the recycling of tetrahydrobiopterin (bh4), a coenzyme that is involved in the biosynthesis of DNA and RNA. **Clinical significance** GCH1 is a promising target for the treatment of a variety of diseases. It is a key regulator of calcium signaling, and its activity is frequently altered in diseases such as stroke, epilepsy, and neurodegenerative disorders. Inhibition of GCH1 has been shown to be effective in treating these diseases, suggesting that it could be used as a therapeutic agent. **Additional information** * GCH1 is a ubiquitin-dependent protein, which means that it is targeted for degradation by the proteasome. * It is a member of the GTP cyclohydrolase family of enzymes, which are involved in the hydrolysis of GTP to GDP. * It is a highly conserved protein, with a similar sequence in mammals, birds, and fish.

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 EPD 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 38 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 15 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 SAM 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 EMBL 2 GO 4 Gene3D 2 Genevisible 1 GenomeRNAi 1 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. For the full schema, download it here.