GCH1_HUMAN P30793
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UniProt:P30793
Recommended name：GTP cyclohydrolase 1
EC number：EC:3.5.4.16
Alternative names：(GTP cyclohydrolase I) (GTP-CH-I)
Cleaved into：
GeneID：2643
Gene names (primary )：GCH1
Gene names (synonym )：DYT5 GCH
Gene names (ORF )：
Length：250
Mass：27903
Sequence：MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS
Tissue specificity：In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). {ECO:0000269|PubMed:16778797}.
Induction：Up-regulated by IFNG/IFN-gamma, TNF, IL1B/interleukin-1 beta, bacterial lipopolysaccharides (LPS) and phenylalanine, and down-regulated by dibutyryl-cAMP, iloprost and 8-bromo-cGMP in HUVEC cells. Up-regulation of GCH1 expression, in turn, stimulates production of tetrahydrobiopterin, with subsequent elevation of endothelial nitric oxide synthase activity. Cytokine-induced GCH1 up-regulation in HUVECs in response to TNF and IFNG/IFN-gamma involves cooperative activation of both the NF-kappa-B and JAK2/STAT pathways. Also up-regulated by hydrogen peroxide in human aorta endothelial cells (HAECs). {ECO:0000269|PubMed:12002810, ECO:0000269|PubMed:12607127, ECO:0000269|PubMed:14646243, ECO:0000269|PubMed:15604419, ECO:0000269|PubMed:15649650, ECO:0000269|PubMed:7678411, ECO:0000269|PubMed:9445252}.
Developmental stage：
Protein families：GTP cyclohydrolase I family