• Gene id: 2643

Gene Summary

• Gene Symbol: GCH1   Gene   UCSC   Ensembl
• Aliases: DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B
• Gene name: GTP cyclohydrolase 1
• Alternate names: GTP cyclohydrolase 1, GTP cyclohydrolase I, GTP-CH-I, dystonia 14, guanosine 5'-triphosphate cyclohydrolase I,
• Gene location: 14q22.2 (54902825: 54842004)     Exons: 9     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential
• OMIM: 608014

Protein Summary

• Protein general information: P30793  
  • Name: GTP cyclohydrolase 1 (EC 3.5.4.16) (GTP cyclohydrolase I) (GTP CH I)
  • Length: 250  
  • Mass: 27903
  • Tissue specificity: In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). {ECO
• Sequence:

  MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAY
  SSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVG
  KVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKT
  VTSTMLGVFREDPKTREEFLTLIRS

• Structural information:
  • Interpro: IPR001474  IPR018234  IPR020602  
  • Prosite: PS00859 PS00860
  • PDB: 1FB1
  • PDBsum: 1FB1
  • STRING: ENSP00000419045
• Other Databases: GeneCards:  GCH1  Malacards:  GCH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051019	mitogen-activated protein kinase binding	IPI	molecular function
GO:0051019	mitogen-activated protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044306	neuron projection terminus	TAS	cellular component
GO:0008270	zinc ion binding	IBA	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	IBA	biological process
GO:0005525	GTP binding	IBA	molecular function
GO:0003934	GTP cyclohydrolase I activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0003934	GTP cyclohydrolase I activity	IEA	molecular function
GO:0046654	tetrahydrofolate biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003934	GTP cyclohydrolase I activity	IEA	molecular function
GO:0003934	GTP cyclohydrolase I activity	IDA	molecular function
GO:0003934	GTP cyclohydrolase I activity	IDA	molecular function
GO:0050884	neuromuscular process controlling posture	IMP	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014916	regulation of lung blood pressure	IEA	biological process
GO:0010460	positive regulation of heart rate	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0003934	GTP cyclohydrolase I activity	IEA	molecular function
GO:0045776	negative regulation of blood pressure	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0031369	translation initiation factor binding	IEA	molecular function
GO:0030742	GTP-dependent protein binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0003934	GTP cyclohydrolase I activity	IEA	molecular function
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0051066	dihydrobiopterin metabolic process	IEA	biological process
GO:0048265	response to pain	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0042311	vasodilation	IEA	biological process
GO:0006729	tetrahydrobiopterin biosynthetic process	IMP	biological process
GO:0051000	positive regulation of nitric-oxide synthase activity	IMP	biological process
GO:2000121	regulation of removal of superoxide radicals	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035998	7,8-dihydroneopterin 3'-triphosphate biosynthetic process	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0034612	response to tumor necrosis factor	IDA	biological process
GO:0034341	response to interferon-gamma	IDA	biological process
GO:0034341	response to interferon-gamma	IDA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	IDA	biological process
GO:0006729	tetrahydrobiopterin biosynthetic process	IDA	biological process
GO:0003924	GTPase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0003934	GTP cyclohydrolase I activity	IDA	molecular function
GO:0051000	positive regulation of nitric-oxide synthase activity	IDA	biological process
GO:0051000	positive regulation of nitric-oxide synthase activity	IDA	biological process
GO:0042559	pteridine-containing compound biosynthetic process	IDA	biological process
GO:0042559	pteridine-containing compound biosynthetic process	IDA	biological process
GO:0042416	dopamine biosynthetic process	IDA	biological process
GO:0032496	response to lipopolysaccharide	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0034341	response to interferon-gamma	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005525	GTP binding	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0042559	pteridine-containing compound biosynthetic process	IDA	biological process
GO:0032496	response to lipopolysaccharide	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0032496	response to lipopolysaccharide	IEP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0008217	regulation of blood pressure	IMP	biological process
GO:0006729	tetrahydrobiopterin biosynthetic process	IMP	biological process
GO:0051000	positive regulation of nitric-oxide synthase activity	IMP	biological process
GO:0048265	response to pain	ISS	biological process
GO:0006809	nitric oxide biosynthetic process	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00790	Folate biosynthesis

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Phenylketonuria	KEGG:H00167
Primary dystonia	KEGG:H00831
Phenylketonuria	KEGG:H00167
Bipolar disorder	PMID:15909293
Dystonia	PMID:7874165
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881