GCH1

GCH1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1FB1
Dynodwyr
Cyfenwau	GCH1, DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B, GTP cyclohydrolase 1
Dynodwyr allanol	OMIM: 600225 HomoloGene: 132 GeneCards: GCH1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • calcium ion binding • protein homodimerization activity • zinc ion binding • GTP binding • metal ion binding • GO:0001948, GO:0016582 protein binding • catalytic activity • hydrolase activity • GTP cyclohydrolase I activity • mitogen-activated protein kinase binding • GO:0006184 GTPase activity • GTP-dependent protein binding • translation initiation factor binding Cydrannau o'r gell • cytoplasm • cytosol • nuclear membrane • nucleoplasm • GO:0016023 cytoplasmic vesicle • cnewyllyn cell • neuron projection terminus • GO:0009327 protein-containing complex Prosesau biolegol • nitric oxide biosynthetic process • response to interferon-gamma • neuromuscular process controlling posture • protein heterooligomerization • negative regulation of blood pressure • dopamine biosynthetic process • regulation of lung blood pressure • vasodilation • pteridine-containing compound biosynthetic process • 7,8-dihydroneopterin 3'-triphosphate biosynthetic process • dihydrobiopterin metabolic process • regulation of blood pressure • response to tumor necrosis factor • tetrahydrofolate biosynthetic process • response to lipopolysaccharide • positive regulation of nitric-oxide synthase activity • response to pain • tetrahydrobiopterin biosynthetic process • metabolaeth • protein homooligomerization • regulation of removal of superoxide radicals • positive regulation of heart rate • GO:0034622 protein-containing complex assembly Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	2643	n/a
Ensembl	ENSG00000131979	n/a
UniProt	P30793	n/a
RefSeq (mRNA)	NM_000161 NM_001024024 NM_001024070 NM_001024071	n/a
RefSeq (protein)	NP_000152 NP_001019195 NP_001019241 NP_001019242	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn GCH1 yw GCH1 a elwir hefyd yn GTP cyclohydrolase 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 14, band 14q22.2.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn GCH1.

• GCH
• DYT5
• DYT14
• DYT5a
• GTPCH1
• HPABH4B
• GTP-CH-1

Llyfryddiaeth

• "[Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia]. ". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID 28397219.
• "Aging modifies the effect of GCH1 RS11158026 on DAT uptake and Parkinson's disease clinical severity. ". Neurobiol Aging. 2017. PMID 27871051.
• "Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene. ". Genet Mol Res. 2015. PMID 26400349.
• "Depressed mood, anxiety, and the use of labor analgesia. ". Arch Womens Ment Health. 2016. PMID 26392364.
• "Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.". Mol Neurobiol. 2016. PMID 26215833.