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Aliases for GCHFR Gene

Aliases for GCHFR Gene

  • GTP Cyclohydrolase I Feedback Regulator 2 3 5
  • GTP Cyclohydrolase I Feedback Regulatory Protein 2 3 4
  • GFRP 3 4
  • P35 3 4
  • GTP Cyclohydrolase 1 Feedback Regulatory Protein 3
  • HsT16933 3

External Ids for GCHFR Gene

Previous GeneCards Identifiers for GCHFR Gene

  • GC15P036423
  • GC15P033952
  • GC15P038634
  • GC15P038772
  • GC15P038843
  • GC15P041058
  • GC15P017904

Summaries for GCHFR Gene

Entrez Gene Summary for GCHFR Gene

  • 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]

GeneCards Summary for GCHFR Gene

GCHFR (GTP Cyclohydrolase I Feedback Regulator) is a Protein Coding gene. Among its related pathways are Metabolism and eNOS activation and regulation. Gene Ontology (GO) annotations related to this gene include enzyme binding and enzyme inhibitor activity.

UniProtKB/Swiss-Prot for GCHFR Gene

  • Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine.

Gene Wiki entry for GCHFR Gene

Additional gene information for GCHFR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCHFR Gene

Genomics for GCHFR Gene

GeneHancer (GH) Regulatory Elements for GCHFR Gene

Promoters and enhancers for GCHFR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J040762 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.6 629 4.3 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 E2F8 GCHFR MGA DNAJC17 ENSG00000259211 INO80 ZFYVE19 RAD51-AS1 CCDC32 BMF FAM92A1P1
GH15J040791 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.5 +30.4 30417 5.2 FOXA2 ARID4B FEZF1 BRCA1 YY1 FOS RXRA MIER2 REST PPARG ZFYVE19 RMDN3 CCDC32 C15orf62 SPINT1 GCHFR RAD51 RAD51-AS1 RHOV RPUSD2
GH15J040785 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.7 +23.5 23493 4.4 NFIB SIN3A RAD21 ETS1 FOS RUNX3 CEBPB REST ZNF398 ELF1 ZFYVE19 CCDC32 RMDN3 GCHFR SPINT1 RAD51 RAD51-AS1 RHOV VPS18 ENSG00000251161
GH15J040589 Enhancer 1.1 Ensembl ENCODE 10.2 -173.3 -173344 2.6 HDGF PKNOX1 ATF1 FOXA2 YBX1 ZNF2 ZNF48 YY1 GTF3C2 ZNF121 CCDC32 RAD51 INO80 ENSG00000259211 DNAJC17 BAHD1 RPAP1 RAD51-AS1 BMF RMDN3
GH15J040738 Enhancer 0.5 ENCODE 12 -24.6 -24550 1.6 SP1 CTCF POLR2A SIN3A CCDC32 RMDN3 DNAJC17 C15orf62 GCHFR RAD51 RAD51-AS1 SPINT1 ZFYVE19 RHOV
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GCHFR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GCHFR gene promoter:
  • PPAR-gamma1
  • Egr-2
  • PPAR-gamma2
  • LCR-F1
  • COMP1
  • CUTL1
  • AML1a
  • HNF-4alpha1
  • GATA-1
  • p53

Genomic Locations for GCHFR Gene

Genomic Locations for GCHFR Gene
chr15:40,764,020-40,767,713
(GRCh38/hg38)
Size:
3,694 bases
Orientation:
Plus strand
chr15:41,056,218-41,059,911
(GRCh37/hg19)
Size:
3,694 bases
Orientation:
Plus strand

Genomic View for GCHFR Gene

Genes around GCHFR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCHFR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCHFR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCHFR Gene

Proteins for GCHFR Gene

  • Protein details for GCHFR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30047-GFRP_HUMAN
    Recommended name:
    GTP cyclohydrolase 1 feedback regulatory protein
    Protein Accession:
    P30047
    Secondary Accessions:
    • B2R4L6
    • B7ZLM8
    • Q2M1Q2
    • Q99749

    Protein attributes for GCHFR Gene

    Size:
    84 amino acids
    Molecular mass:
    9698 Da
    Quaternary structure:
    • Homopentamer. Forms a complex with GCH1 where a GCH1 homodecamer is sandwiched by two GFRP homopentamers (By similarity). Interacts with GCH1.

    Alternative splice isoforms for GCHFR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCHFR Gene

Post-translational modifications for GCHFR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCHFR Gene

Antibody Products

  • Abcam antibodies for GCHFR

No data available for DME Specific Peptides for GCHFR Gene

Domains & Families for GCHFR Gene

Gene Families for GCHFR Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GCHFR Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GCHFR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P30047

UniProtKB/Swiss-Prot:

GFRP_HUMAN :
  • Belongs to the GFRP family.
Family:
  • Belongs to the GFRP family.
genes like me logo Genes that share domains with GCHFR: view

Function for GCHFR Gene

Molecular function for GCHFR Gene

UniProtKB/Swiss-Prot Function:
Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine.

Gene Ontology (GO) - Molecular Function for GCHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity IEA --
GO:0005515 protein binding IPI 9092499
GO:0016597 amino acid binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0019899 enzyme binding IEA --
genes like me logo Genes that share ontologies with GCHFR: view
genes like me logo Genes that share phenotypes with GCHFR: view

Animal Model Products

miRNA for GCHFR Gene

miRTarBase miRNAs that target GCHFR

Clone Products

  • Addgene plasmids for GCHFR

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GCHFR Gene

Localization for GCHFR Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCHFR Gene

Nucleus. Nucleus membrane. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GCHFR gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GCHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16778797
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 16778797
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GCHFR: view

Pathways & Interactions for GCHFR Gene

genes like me logo Genes that share pathways with GCHFR: view

Interacting Proteins for GCHFR Gene

Gene Ontology (GO) - Biological Process for GCHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006809 nitric oxide biosynthetic process TAS 8702680
GO:0009890 negative regulation of biosynthetic process IEA --
GO:0042133 neurotransmitter metabolic process TAS 8702680
GO:0043105 negative regulation of GTP cyclohydrolase I activity IEA --
GO:0051186 cofactor metabolic process TAS --
genes like me logo Genes that share ontologies with GCHFR: view

No data available for SIGNOR curated interactions for GCHFR Gene

Drugs & Compounds for GCHFR Gene

(4) Drugs for GCHFR Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
Tetrahydrobiopterin Pharma 0

(2) Additional Compounds for GCHFR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GCHFR: view

Transcripts for GCHFR Gene

mRNA/cDNA for GCHFR Gene

Unigene Clusters for GCHFR Gene

GTP cyclohydrolase I feedback regulator:
Representative Sequences:

Clone Products

  • Addgene plasmids for GCHFR

Alternative Splicing Database (ASD) splice patterns (SP) for GCHFR Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d
SP1: - - -
SP2: - -
SP3: - -
SP4: - - - -
SP5: -

Relevant External Links for GCHFR Gene

GeneLoc Exon Structure for
GCHFR
ECgene alternative splicing isoforms for
GCHFR

Expression for GCHFR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GCHFR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GCHFR Gene

This gene is overexpressed in Liver (x10.8).

Protein differential expression in normal tissues from HIPED for GCHFR Gene

This gene is overexpressed in Liver, secretome (28.0) and Pancreatic juice (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GCHFR Gene



NURSA nuclear receptor signaling pathways regulating expression of GCHFR Gene:

GCHFR

SOURCE GeneReport for Unigene cluster for GCHFR Gene:

Hs.631717

mRNA Expression by UniProt/SwissProt for GCHFR Gene:

P30047-GFRP_HUMAN
Tissue specificity: In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).

Evidence on tissue expression from TISSUES for GCHFR Gene

  • Liver(4.4)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with GCHFR: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GCHFR Gene

Orthologs for GCHFR Gene

This gene was present in the common ancestor of animals.

Orthologs for GCHFR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCHFR 34 33
  • 99.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gchfr 16 34 33
  • 91.67 (n)
cow
(Bos Taurus)
Mammalia GCHFR 34 33
  • 90.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gchfr 33
  • 90.48 (n)
dog
(Canis familiaris)
Mammalia GCHFR 34 33
  • 90.08 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCHFR 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GCHFR 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCHFR 34 33
  • 79.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCHFR 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gchfr 33
  • 71.03 (n)
Str.15381 33
zebrafish
(Danio rerio)
Actinopterygii gchfr 34 33
  • 71.03 (n)
OneToOne
zgc73253 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9476 33
worm
(Caenorhabditis elegans)
Secernentea gfrp-1 34 33
  • 54.62 (n)
OneToOne
Species where no ortholog for GCHFR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCHFR Gene

ENSEMBL:
Gene Tree for GCHFR (if available)
TreeFam:
Gene Tree for GCHFR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GCHFR: view image

Paralogs for GCHFR Gene

No data available for Paralogs for GCHFR Gene

Variants for GCHFR Gene

Sequence variations from dbSNP and Humsavar for GCHFR Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000690905 -- 40,763,204(+) G/A upstream_transcript_variant
rs1000790011 -- 40,763,431(+) G/A upstream_transcript_variant
rs1001517486 -- 40,767,116(+) C/T intron_variant
rs1002575815 -- 40,768,125(+) G/A downstream_transcript_variant
rs1002702436 -- 40,762,706(+) G/C upstream_transcript_variant

Variation tolerance for GCHFR Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.09; 1.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GCHFR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCHFR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GCHFR Gene

Disorders for GCHFR Gene

Additional Disease Information for GCHFR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GCHFR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GCHFR Gene

Publications for GCHFR Gene

  1. A yeast 2-hybrid analysis of human GTP cyclohydrolase I protein interactions. (PMID: 16696853) Swick L … Kapatos G (Journal of neurochemistry 2006) 3 4 22 58
  2. GTP cyclohydrolase feedback regulatory protein controls cofactor 6-tetrahydrobiopterin synthesis in the cytosol and in the nucleus of epidermal keratinocytes and melanocytes. (PMID: 16778797) Chavan B … Schallreuter KU (The Journal of investigative dermatology 2006) 3 4 22 58
  3. Human liver protein map: a reference database established by microsequencing and gel comparison. (PMID: 1286669) Hochstrasser DF … Vargas R (Electrophoresis 1992) 2 3 4 58
  4. GTP cyclohydrolase I phosphorylation and interaction with GTP cyclohydrolase feedback regulatory protein provide novel regulation of endothelial tetrahydrobiopterin and nitric oxide. (PMID: 19926872) Li L … Chen W (Circulation research 2010) 3 22 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for GCHFR Gene

Sources for GCHFR Gene

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