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  2. GCHFR - GTP cyclohydrolase I feedback regulator Gene

GCHFR - GTP cyclohydrolase I feedback regulator Gene

中文名称:GTP 环化水解酶 I 反馈调节因子

种属: Homo sapiens

同用名: P35; GFRP; HsT16933

基因 ID: 2644 | 基因类型: protein coding

关于 GCHFR

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:40,764,068-40,767,708 (from NCBI)

This gene has 6 transcripts (splice variants) and 182 orthologues. Broad expression in liver (RPKM 32.0), small intestine (RPKM 26.3) and 23 other tissues.

功能概要

GTP 环水解酶 I 反馈调节蛋白结合并介导四氢生物蝶呤抑制 GTP 环水解酶 I。调节蛋白 GCHFR 由同型二聚体组成。据推测,GCHFR 可能在调节肝脏中的苯丙氨酸代谢以及生物胺神经递质和一氧化氮的产生中发挥作用。[RefSeq 提供,2008 年 7 月]

GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008]

GCHFR 基因产物(1)

mRNA Protein Name
NM_005258.3 NP_005249.1 GTP cyclohydrolase 1 feedback regulatory protein
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9092499 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
16778797 GOA
located in dendrite IDA
IDA: 通过直接分析推断
16778797 GOA
located in melanosome IDA
IDA: 通过直接分析推断
16778797 GOA
located in nuclear membrane IDA
IDA: 通过直接分析推断
16778797 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16778797 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

GCHFR 蛋白结构

GFRP

GFRP: GTP cyclohydrolase I feedback regulatory protein (GFRP) (2 - 84)

  • 0
  • 84 a.a.
蛋白主名 其他名称

GTP cyclohydrolase 1 feedback regulatory protein

GTP cyclohydrolase I feedback regulatory protein

GCHFR 抗体

目录号 产品名 应用 反应物种
HY-P89771 GFRP Antibody (YA9115) WB, ICC/IF, IF-Tissue, IP, ELISA human, mouse, rat

关联疾病

疾病名称 别名
Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Pts Deficiency

HPABH4A

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

Ptsd

Bh4-Deficient Hyperphenylalaninemia A

Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

Hyperphenylalanemia, Bh4-Deficient, A

Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

6-Pyruvoyltetrahydropterin Synthase Deficiency

Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

Ptpsd

Hyperphenylalaninemia, Bh4-Deficient, Type A

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus GCHFR VGNC VGNC:29287
Rattus norvegicus GCHFR RGD RGD:621746
Mus musculus GCHFR MGD MGI:2443977
Canis familiaris GCHFR VGNC VGNC:41146
Macaca mulatta GCHFR VGNC VGNC:84341