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)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Gene Ontology (GO)/biological pathways

GO:Molecular Function


GO:Biological Process


GO:Cellular Component


Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction