GCHFR - GTP cyclohydrolase I feedback regulator Gene

Also Known as P35; GFRP; HsT16933

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2644

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_005258.3 NP_005249.1 GTP cyclohydrolase 1 feedback regulatory protein

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
9092499 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in cytoplasm IDA
IDA: Inferred from direct assay
16778797 GOA
located in dendrite IDA
IDA: Inferred from direct assay
16778797 GOA
located in melanosome IDA
IDA: Inferred from direct assay
16778797 GOA
located in nuclear membrane IDA
IDA: Inferred from direct assay
16778797 GOA
located in nucleus IDA
IDA: Inferred from direct assay
16778797 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GCHFR Protein Structure

GFRP

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

  • 0
  • 84 a.a.
Protein Preferred Names Protein Names

GTP cyclohydrolase 1 feedback regulatory protein

  • GTP cyclohydrolase I feedback regulatory protein

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS05328 GCHFR Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others GCHFR NCBI