GCHFR GTP cyclohydrolase I feedback regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: GCHFRprovided by HGNC
Official Full Name: GTP cyclohydrolase I feedback regulatorprovided by HGNC
Primary source: HGNC:HGNC:4194
See related: Ensembl:ENSG00000137880 MIM:602437; AllianceGenome:HGNC:4194
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P35; GFRP; HsT16933
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]
Expression: Broad expression in liver (RPKM 32.0), small intestine (RPKM 26.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (40764068..40767708)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (38570090..38573730)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (41056266..41059906)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biophysical and structural investigation of the regulation of human GTP cyclohydrolase I by its regulatory protein GFRP.
Title: Biophysical and structural investigation of the regulation of human GTP cyclohydrolase I by its regulatory protein GFRP.
A hybrid approach reveals the allosteric regulation of GTP cyclohydrolase I.
Title: A hybrid approach reveals the allosteric regulation of GTP cyclohydrolase I.
homozygous individuals for the TT haplotype were less likely to respond to the SSRI fluoxetine than to the nortriptyline suggesting a biological process through which GCHFR promoter variants might influence antidepressant response.
Title: A polymorphism of the GTP-cyclohydrolase I feedback regulator gene alters transcriptional activity and may affect response to SSRI antidepressants.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Studies provide a new mechanism for regulation of endothelial GTPCH-1 by its phosphorylation and interplay with GFRP.
Title: GTP cyclohydrolase I phosphorylation and interaction with GTP cyclohydrolase feedback regulatory protein provide novel regulation of endothelial tetrahydrobiopterin and nitric oxide.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Examination of tetrahydrobiopterin pathway genes in autism.
6BH(4) de novo synthesis is controlled by H(2)O(2) in a concentration-dependent manner, but H(2)O(2)-mediated oxidation does not affect the functionality of the GTPCHI/GFRP complex.
Title: H(2)O(2) increases de novo synthesis of (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin via GTP cyclohydrolase I and its feedback regulatory protein in vitiligo.
Demonstrate role for GFRP in regulating iNOS-mediated NO synthesis and suggest that the allosteric regulation of GTP-CH1 activity by GFRP may be an important mechanism regulating BH(4) and NO levels in vivo.
Title: Over-expression of GTP-cyclohydrolase 1 feedback regulatory protein attenuates LPS and cytokine-stimulated nitric oxide production.
Bacterial lipopolysaccharide down-regulates expression of GTP cyclohydrolase I feedback regulatory protein
Title: Bacterial lipopolysaccharide down-regulates expression of GTP cyclohydrolase I feedback regulatory protein.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-56869 (e-PCR)
- UniSTS:34422

RH70706 (e-PCR)
- UniSTS:14721

NoName (e-PCR)
- UniSTS:486079

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP cyclohydrolase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of nitric oxide biosynthetic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: GTP cyclohydrolase 1 feedback regulatory protein

Names: GTP cyclohydrolase I feedback regulatory protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.