Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GCH1 (GTP cyclohydrolase 1)

Identity

Alias_namesGCH
DYT5
DYT14
dystonia 14
Alias_symbol (synonym)GTPCH1
DYT5a
Other aliasGTP-CH-1
HPABH4B
HGNC (Hugo) GCH1
LocusID (NCBI) 2643
Atlas_Id 50399
Location 14q22.2  [Link to chromosome band 14q22]
Location_base_pair Starts at 54842006 and ends at 54902824 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DKC1 (Xq28) / GCH1 (14q22.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GCH1   4193
Cards
Entrez_Gene (NCBI)GCH1  2643  GTP cyclohydrolase 1
AliasesDYT14; DYT5; DYT5a; GCH; 
GTP-CH-1; GTPCH1; HPABH4B
GeneCards (Weizmann)GCH1
Ensembl hg19 (Hinxton)ENSG00000131979 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131979 [Gene_View]  ENSG00000131979 [Sequence]  chr14:54842006-54902824 [Contig_View]  GCH1 [Vega]
ICGC DataPortalENSG00000131979
TCGA cBioPortalGCH1
AceView (NCBI)GCH1
Genatlas (Paris)GCH1
WikiGenes2643
SOURCE (Princeton)GCH1
Genetics Home Reference (NIH)GCH1
Genomic and cartography
GoldenPath hg38 (UCSC)GCH1  -     chr14:54842006-54902824 -  14q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GCH1  -     14q22.2   [Description]    (hg19-Feb_2009)
GoldenPathGCH1 - 14q22.2 [CytoView hg19]  GCH1 - 14q22.2 [CytoView hg38]
ImmunoBaseENSG00000131979
Mapping of homologs : NCBIGCH1 [Mapview hg19]  GCH1 [Mapview hg38]
OMIM128230   233910   600225   
Gene and transcription
Genbank (Entrez)AF321276 AY137463 AY137464 AY137465 BC025415
RefSeq transcript (Entrez)NM_000161 NM_001024024 NM_001024070 NM_001024071
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GCH1
Cluster EST : UnigeneHs.86724 [ NCBI ]
CGAP (NCI)Hs.86724
Alternative Splicing GalleryENSG00000131979
Gene ExpressionGCH1 [ NCBI-GEO ]   GCH1 [ EBI - ARRAY_EXPRESS ]   GCH1 [ SEEK ]   GCH1 [ MEM ]
Gene Expression Viewer (FireBrowse)GCH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2643
GTEX Portal (Tissue expression)GCH1
Human Protein AtlasENSG00000131979-GCH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30793   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP30793  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP30793
Splice isoforms : SwissVarP30793
Catalytic activity : Enzyme3.5.4.16 [ Enzyme-Expasy ]   3.5.4.163.5.4.16 [ IntEnz-EBI ]   3.5.4.16 [ BRENDA ]   3.5.4.16 [ KEGG ]   
PhosPhoSitePlusP30793
Domaine pattern : Prosite (Expaxy)GTP_CYCLOHYDROL_1_1 (PS00859)    GTP_CYCLOHYDROL_1_2 (PS00860)   
Domains : Interpro (EBI)GTP_CycHdrlase_I    GTP_CycHdrlase_I_CS    GTP_CycHdrlase_I_dom   
Domain families : Pfam (Sanger)GTP_cyclohydroI (PF01227)   
Domain families : Pfam (NCBI)pfam01227   
Conserved Domain (NCBI)GCH1
DMDM Disease mutations2643
Blocks (Seattle)GCH1
PDB (RSDB)1FB1   
PDB Europe1FB1   
PDB (PDBSum)1FB1   
PDB (IMB)1FB1   
Structural Biology KnowledgeBase1FB1   
SCOP (Structural Classification of Proteins)1FB1   
CATH (Classification of proteins structures)1FB1   
SuperfamilyP30793
Human Protein Atlas [tissue]ENSG00000131979-GCH1 [tissue]
Peptide AtlasP30793
HPRD02573
IPIIPI00027492   IPI00220702   IPI00220703   IPI00335632   IPI01009703   
Protein Interaction databases
DIP (DOE-UCLA)P30793
IntAct (EBI)P30793
FunCoupENSG00000131979
BioGRIDGCH1
STRING (EMBL)GCH1
ZODIACGCH1
Ontologies - Pathways
QuickGOP30793
Ontology : AmiGOGTPase activity  GTP cyclohydrolase I activity  GTP cyclohydrolase I activity  calcium ion binding  protein binding  GTP binding  GTP binding  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  tetrahydrobiopterin biosynthetic process  tetrahydrobiopterin biosynthetic process  tetrahydrobiopterin biosynthetic process  nitric oxide biosynthetic process  regulation of blood pressure  zinc ion binding  zinc ion binding  positive regulation of heart rate  regulation of lung blood pressure  GTP-dependent protein binding  translation initiation factor binding  cytoplasmic vesicle  nuclear membrane  response to lipopolysaccharide  response to lipopolysaccharide  protein-containing complex  response to interferon-gamma  response to tumor necrosis factor  7,8-dihydroneopterin 3'-triphosphate biosynthetic process  vasodilation  dopamine biosynthetic process  pteridine-containing compound biosynthetic process  protein homodimerization activity  neuron projection terminus  negative regulation of blood pressure  tetrahydrofolate biosynthetic process  response to pain  coenzyme binding  neuromuscular process controlling posture  positive regulation of nitric-oxide synthase activity  positive regulation of nitric-oxide synthase activity  mitogen-activated protein kinase binding  cofactor metabolic process  protein homooligomerization  protein heterooligomerization  regulation of removal of superoxide radicals  
Ontology : EGO-EBIGTPase activity  GTP cyclohydrolase I activity  GTP cyclohydrolase I activity  calcium ion binding  protein binding  GTP binding  GTP binding  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  tetrahydrobiopterin biosynthetic process  tetrahydrobiopterin biosynthetic process  tetrahydrobiopterin biosynthetic process  nitric oxide biosynthetic process  regulation of blood pressure  zinc ion binding  zinc ion binding  positive regulation of heart rate  regulation of lung blood pressure  GTP-dependent protein binding  translation initiation factor binding  cytoplasmic vesicle  nuclear membrane  response to lipopolysaccharide  response to lipopolysaccharide  protein-containing complex  response to interferon-gamma  response to tumor necrosis factor  7,8-dihydroneopterin 3'-triphosphate biosynthetic process  vasodilation  dopamine biosynthetic process  pteridine-containing compound biosynthetic process  protein homodimerization activity  neuron projection terminus  negative regulation of blood pressure  tetrahydrofolate biosynthetic process  response to pain  coenzyme binding  neuromuscular process controlling posture  positive regulation of nitric-oxide synthase activity  positive regulation of nitric-oxide synthase activity  mitogen-activated protein kinase binding  cofactor metabolic process  protein homooligomerization  protein heterooligomerization  regulation of removal of superoxide radicals  
Pathways : KEGGFolate biosynthesis   
NDEx NetworkGCH1
Atlas of Cancer Signalling NetworkGCH1
Wikipedia pathwaysGCH1
Orthology - Evolution
OrthoDB2643
GeneTree (enSembl)ENSG00000131979
Phylogenetic Trees/Animal Genes : TreeFamGCH1
HOGENOMP30793
Homologs : HomoloGeneGCH1
Homology/Alignments : Family Browser (UCSC)GCH1
Gene fusions - Rearrangements
Fusion : QuiverGCH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGCH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GCH1
dbVarGCH1
ClinVarGCH1
1000_GenomesGCH1 
Exome Variant ServerGCH1
ExAC (Exome Aggregation Consortium)ENSG00000131979
GNOMAD BrowserENSG00000131979
Varsome BrowserGCH1
Genetic variants : HAPMAP2643
Genomic Variants (DGV)GCH1 [DGVbeta]
DECIPHERGCH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGCH1 
Mutations
ICGC Data PortalGCH1 
TCGA Data PortalGCH1 
Broad Tumor PortalGCH1
OASIS PortalGCH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGCH1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGCH1
Mutations and Diseases : HGMDGCH1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GCH1
DgiDB (Drug Gene Interaction Database)GCH1
DoCM (Curated mutations)GCH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GCH1 (select a term)
intoGenGCH1
Cancer3DGCH1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM128230    233910    600225   
Orphanet787    13825   
DisGeNETGCH1
MedgenGCH1
Genetic Testing Registry GCH1
NextProtP30793 [Medical]
TSGene2643
GENETestsGCH1
Target ValidationGCH1
Huge Navigator GCH1 [HugePedia]
snp3D : Map Gene to Disease2643
BioCentury BCIQGCH1
ClinGenGCH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2643
Chemical/Pharm GKB GenePA28608
Clinical trialGCH1
Miscellaneous
canSAR (ICR)GCH1 (select the gene name)
DataMed IndexGCH1
Probes
Litterature
PubMed198 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGCH1
EVEXGCH1
GoPubMedGCH1
iHOPGCH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:44:35 CET 2019

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