Gene: Gch1

Basic information

Tag Content
Uniprot ID Q05915
Entrez ID 14528
Genbank protein ID AAH05643.1; AAH69921.1; AAC60677.2; AAA37757.1;
Genbank nucleotide ID NM_008102.3
Ensembl protein ID ENSMUSP00000087405
Ensembl nucleotide ID ENSMUSG00000037580
Gene name GTP cyclohydrolase 1
Gene symbol Gch1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage E14.5
Data sources Homology search
Reference
Functional description May positively regulate nitric oxide synthesis in endothelial cells. May be involved in dopamine synthesis. May modify pain sensitivity and persistence.
Sequence
MEKPRGVRCT NGFSERELPR PGASPPAEKS RPPEAKGAQP ADAWKAGRHR SEEENQVNLP 60
KLAAAYSSIL LSLGEDPQRQ GLLKTPWRAA TAMQYFTKGY QETISDVLND AIFDEDHDEM 120
VIVKDIDMFS MCEHHLVPFV GRVHIGYLPN KQVLGLSKLA RIVEIYSRRL QVQERLTKQI 180
AVAITEALQP AGVGVVIEAT HMCMVMRGVQ KMNSKTVTST MLGVFREDPK TREEFLTLIR 240
S 241

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

loading...

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologGCH1286815F1MZ14Bos taurusPredictionMore>>
1:1 orthologGCH1609393E2RI70Canis lupus familiarisPredictionMore>>
1:1 orthologGCH1A0A452F7E4Capra hircusPredictionMore>>
1:1 orthologGCH12643P30793Homo sapiensPublicationMore>>
1:1 orthologGch114528Q05915E14.5Mus musculusPredictionMore>>
1:1 orthologGCH1A0A2I3RQP8Pan troglodytesPredictionMore>>
1:1 orthologGCH1A0A287BGL7Sus scrofaPredictionMore>>
1:1 orthologGCH1100286831G1SIY3Oryctolagus cuniculusPredictionMore>>
1:1 orthologGch129244P22288Rattus norvegicusPredictionMore>>
1:1 orthologgch1100192219E7FGQ8Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
GCH1rs17128077Single Nucleotide Polymorphism Selection and Genotyping26215833

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003924 GTPase activityISO
GO:0003934 GTP cyclohydrolase I activityISO
GO:0003934 GTP cyclohydrolase I activityIBA
GO:0003934 GTP cyclohydrolase I activityIDA
GO:0005509 calcium ion bindingISO
GO:0005525 GTP bindingISO
GO:0005525 GTP bindingIBA
GO:0008270 zinc ion bindingISO
GO:0008270 zinc ion bindingIBA
GO:0030742 GTP-dependent protein bindingISO
GO:0031369 translation initiation factor bindingISO
GO:0042802 identical protein bindingISO
GO:0042803 protein homodimerization activityISO
GO:0044877 protein-containing complex bindingISO
GO:0050662 coenzyme bindingISO
GO:0051019 mitogen-activated protein kinase bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0006729 tetrahydrobiopterin biosynthetic processISO
GO:0006729 tetrahydrobiopterin biosynthetic processIBA
GO:0006729 tetrahydrobiopterin biosynthetic processIC
GO:0008217 regulation of blood pressureISO
GO:0008217 regulation of blood pressureIMP
GO:0010460 positive regulation of heart rateIMP
GO:0014916 regulation of lung blood pressureIMP
GO:0034341 response to interferon-gammaISO
GO:0034612 response to tumor necrosis factorISO
GO:0035998 7,8-dihydroneopterin 3'-triphosphate biosynthetic processIEA
GO:0042311 vasodilationISO
GO:0042416 dopamine biosynthetic processISO
GO:0042559 pteridine-containing compound biosynthetic processISO
GO:0045776 negative regulation of blood pressureISO
GO:0046654 tetrahydrofolate biosynthetic processIEA
GO:0048265 response to painISS
GO:0048265 response to painISO
GO:0050884 neuromuscular process controlling postureISO
GO:0051000 positive regulation of nitric-oxide synthase activityISO
GO:0051066 dihydrobiopterin metabolic processISO
GO:0051260 protein homooligomerizationISO
GO:0065003 protein-containing complex assemblyISO
GO:0071222 cellular response to lipopolysaccharideTAS
GO:1905627 regulation of serotonin biosynthetic processNAS
GO:2000121 regulation of removal of superoxide radicalsISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005654 nucleoplasmISO
GO:0005737 cytoplasmISO
GO:0005737 cytoplasmIBA
GO:0005829 cytosolISO
GO:0031410 cytoplasmic vesicleISO
GO:0031965 nuclear membraneISO
GO:0032991 protein-containing complexISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulationIEA
R-MMU-196854 Metabolism of vitamins and cofactorsIEA
R-MMU-8978934 Metabolism of cofactorsIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0021 Allosteric enzyme
KW-0963 Cytoplasm
KW-0342 GTP-binding
KW-0378 Hydrolase
KW-0479 Metal-binding
KW-0547 Nucleotide-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0783 Tetrahydrobiopterin biosynthesis
KW-0862 Zinc

Interpro

InterPro ID InterPro Term
IPR043133 GTP-CH-I_C/QueF
IPR043134 GTP-CH-I_N
IPR001474 GTP_CycHdrlase_I
IPR018234 GTP_CycHdrlase_I_CS
IPR020602 GTP_CycHdrlase_I_dom

PROSITE

PROSITE ID PROSITE Term
PS00859 GTP_CYCLOHYDROL_1_1
PS00860 GTP_CYCLOHYDROL_1_2

Pfam

Pfam ID Pfam Term
PF01227 GTP_cyclohydroI