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

Gene ID: 2644, updated on 7-Dec-2018

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
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

Genomic context

See GCHFR in Genome Data Viewer
Location:
15q15.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (40764087..40767713)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41056285..41059911)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene regulator of microtubule dynamics 3 Neighboring gene SUMO2 pseudogene 15 Neighboring gene DnaJ heat shock protein family (Hsp40) member C17 Neighboring gene chromosome 15 open reading frame 62 Neighboring gene zinc finger FYVE-type containing 19

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of nitric oxide, organism-specific biosystem (from REACTOME)
    Metabolism of nitric oxide, organism-specific biosystemNitric oxide (NO), a multifunctional second messenger, is implicated in physiological functions in mammals that range from immune response and potentiation of synaptic transmission to dilation of blo...
  • Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation, organism-specific biosystem (from REACTOME)
    Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation, organism-specific biosystemTetrahydrobiopterin (BH4) is an essential co-factor for the aromatic amino acid hydroxylases and glycerol ether monooxygenase and it regulates nitric oxide synthase (NOS) activity. Inherited BH4 defi...
  • eNOS activation and regulation, organism-specific biosystem (from REACTOME)
    eNOS activation and regulation, organism-specific biosystemOriginally identified as endothelium-derived relaxing factor, eNOS derived NO is a critical signaling molecule in vascular homeostasis. It regulates blood pressure and vascular tone, and is involved...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138467, MGC138469

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP cyclohydrolase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
amino acid binding IEA
Inferred from Electronic Annotation
more info
 
enzyme inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cofactor metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of GTP cyclohydrolase I activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter metabolic process TAS
Traceable Author Statement
more info
PubMed 
nitric oxide biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
GTP cyclohydrolase 1 feedback regulatory protein
Names
GTP cyclohydrolase I feedback regulatory protein

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_005258.3NP_005249.1  GTP cyclohydrolase 1 feedback regulatory protein

    See identical proteins and their annotated locations for NP_005249.1

    Status: REVIEWED

    Source sequence(s)
    AC012476
    Consensus CDS
    CCDS10064.1
    UniProtKB/Swiss-Prot
    P30047
    Related
    ENSP00000260447.4, ENST00000260447.5
    Conserved Domains (1) summary
    pfam06399
    Location:383
    GFRP; GTP cyclohydrolase I feedback regulatory protein (GFRP)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    40764087..40767713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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