AutismKB 2.0

Annotation Details for GCH1


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Basic Information Top
Gene Symbol:GCH1 ( DYT14,DYT5,DYT5a,GCH,GTP-CH-1,GTPCH1,HPABH4B )
Gene Full Name: GTP cyclohydrolase 1
Band: 14q22.2
Quick LinksEntrez ID:2643; OMIM: 600225; Uniprot ID:GCH1_HUMAN; ENSEMBL ID: ENSG00000131979; HGNC ID: 4193
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus16778797
GO:0005654IDA-nucleoplasm-
GO:0005737IDA-cytoplasm10907721
GO:0005829IDA-cytosol2463916
GO:0005829TAS-cytosol-
GO:0031410IDA-cytoplasmic vesicle3318829
GO:0031965IDA-nuclear membrane-
GO:0043234IDA-protein complex11087823
GO:0044306TAS-neuron projection terminus23457032
GO ID Evidence Qualifier GO_term References
GO:0003924IDA-GTPase activity2463916
GO:0003934IDA-GTP cyclohydrolase I activity7730309
GO:0003934TAS-GTP cyclohydrolase I activity-
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding9092499
GO:0005525IDA-GTP binding3753653
GO:0008270IDA-zinc ion binding11087827
GO:0030742IEA-GTP-dependent protein binding-
GO:0031369IEA-translation initiation factor binding-
GO:0042803IPI-protein homodimerization activity16696853
GO:0050662IEA-coenzyme binding-
GO:0051019IPI-mitogen-activated protein kinase binding19294699
GO ID Evidence Qualifier GO_term References
GO:0006729IDA-tetrahydrobiopterin biosynthetic process7678411
GO:0006729IMP-tetrahydrobiopterin biosynthetic process17101830
GO:0006809NAS-nitric oxide biosynthetic process9445252
GO:0008217IMP-regulation of blood pressure17717598
GO:0010460IEA-positive regulation of heart rate-
GO:0014916IEA-regulation of lung blood pressure-
GO:0032496IDA-response to lipopolysaccharide7678411
GO:0032496IEPNOTresponse to lipopolysaccharide15604419
GO:0034341IDA-response to interferon-gamma7678411
GO:0034612IDA-response to tumor necrosis factor9445252
GO:0035998IEA-7,8-dihydroneopterin 3'-triphosphate biosynthetic process-
GO:0042311IEA-vasodilation-
GO:0042416IDA-dopamine biosynthetic process16338639
GO:0042559IDA-pteridine-containing compound biosynthetic process2463916
GO:0045776IEA-negative regulation of blood pressure-
GO:0046654IEA-tetrahydrofolate biosynthetic process-
GO:0048265ISS-response to pain-
GO:0050884IMP-neuromuscular process controlling posture7874165
GO:0050999TAS-regulation of nitric-oxide synthase activity-
GO:0051000IDA-positive regulation of nitric-oxide synthase activity12176133
GO:0051000IMP-positive regulation of nitric-oxide synthase activity17717598
GO:0051260IDA-protein homooligomerization11087827
GO:0051291IEA-protein heterooligomerization-
GO:2000121IMP-regulation of removal of superoxide radicals19666465
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
RPH3AGCH11165607802677 Affinity Capture-Western
RPH3AGCH11089137802677 Affinity Capture-Western
OSBPL9GCH112538419615732 Affinity Capture-MS
OSBPL9GCH110891319615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
GCH1rs12885400, rs17253591, rs2878169, rs3783637, rs3783642, rs4411417, rs8004018, rs8017210, rs841, rs9671371 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:95675
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-001205-3'