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2643 GCH1

2643

GCH1

GTP cyclohydrolase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition GTP cyclohydrolase 1

研究结论

Date Results Publications
2021-02-06 13:51:00 A hybrid approach reveals the allosteric regulation of GTP cyclohydrolase I. 33229582
2020-11-21 13:13:00 GCH1 (rs841) polymorphism in the nitric oxide-forming pathway has protective effects on obstructive sleep apnea. 31819149
2020-09-19 16:30:00 A tetrahydrobiopterin deficit finding in schizophrenia: A confirmation study. 31230962
2020-07-11 10:28:00 CTRP13 preserves endothelial function in diabetic mice by regulating GCH1/BH4 axis-dependent eNOS coupling, suggesting the therapeutic potential of CTRP13 against diabetic vasculopathy. 31676569
2020-04-18 11:07:00 the rs3783641 single-nucleotide polymorphism in the GCH1 gene is associated with post-herpetic neuralgia, and the AA genotype showed a protective effect in post-herpetic neuralgia. 31486149

名称对应

Type IDs
Synonymous DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B
Gene
UniProtKB-ID: GCH1_HUMAN, A0A024R642_HUMAN, Q8IZH9_HUMAN
UniprotKB: P30793, A0A024R642, Q8IZH9
UniParc: UPI000002AA4F, UPI000007410C, UPI0000001289, UPI000002AA51, UPI000002AA50
EMBL: U19256, L29478, CH471061, S44049, S44053, U19257, U19258, CR536551, Z30952, Z29434, S43856, U19259, U66097, AY137463, Z16418, BC025415, U66095, U19523, Z29433
Ensembl: ENSG00000131979
KO: hsa:2643
Nucleutide sequences
EMBL-CDS: CAA83213.1, AAB23166.1, AAD38866.1, AAB60633.1, AAH25415.1, CAB77391.1, CAA78908.1, EAW80647.1, AAD38868.1, AAB23164.1, CAB77392.1, AAB16861.1, AAB42186.1, CAG38788.1, AAB23165.1, EAW80648.1, AAN17459.1
Gene_ORFName: hCG_22618
Ensembl_TRS: ENST00000395514, ENST00000491895, ENST00000543643, ENST00000622544, ENST00000536224
Protein sequencees
Ensembl_PRO: ENSP00000477796, ENSP00000378890, ENSP00000419045, ENSP00000444011, ENSP00000445246
RefSeq: NP_001019241.1, NP_001019242.1, XP_016876707.1, NP_001019195.1, NP_000152.1
Others
UniRef100: UniRef100_P30793
UniRef90: UniRef90_P30793
UniRef50: UniRef50_P30793
UniGene: Hs.86724
CCDS: CCDS9720.1, CCDS45110.1, CCDS41954.1

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