Human Gene GCHFR (ENST00000260447.6) from GENCODE V44
  Description: Homo sapiens GTP cyclohydrolase I feedback regulator (GCHFR), mRNA. (from RefSeq NM_005258)
RefSeq Summary (NM_005258): 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].
Gencode Transcript: ENST00000260447.6
Gencode Gene: ENSG00000137880.6
Transcript (Including UTRs)
   Position: hg38 chr15:40,764,068-40,767,708 Size: 3,641 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr15:40,764,181-40,767,349 Size: 3,169 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr15:40,764,068-40,767,708)mRNA (may differ from genome)Protein (84 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=GTP cyclohydrolase 1 feedback regulatory protein; Short=GFRP; AltName: Full=GTP cyclohydrolase I feedback regulatory protein; AltName: Full=p35;
FUNCTION: Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine.
SUBUNIT: Homopentamer. Forms a complex with GCH1 where a GCH1 homodecamer is sandwiched by two GFRP homopentamers (By similarity). Interacts with GCH1.
SUBCELLULAR LOCATION: Nucleus. Nucleus membrane. Cytoplasm, cytosol.
TISSUE SPECIFICITY: In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).
SIMILARITY: Belongs to the GFRP family.

-  Primer design for this transcript

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 58.79 RPKM in Liver
Total median expression: 396.42 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -55.00113-0.487 Picture PostScript Text
3' UTR -162.10359-0.452 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009112 - GTP_CycHdrlase_I_reg

Pfam Domains:
PF06399 - GTP cyclohydrolase I feedback regulatory protein (GFRP)

ModBase Predicted Comparative 3D Structure on P30047
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004857 enzyme inhibitor activity
GO:0005515 protein binding
GO:0016597 amino acid binding
GO:0019899 enzyme binding
GO:0030742 GTP-dependent protein binding
GO:0044549 GTP cyclohydrolase binding

Biological Process:
GO:0006809 nitric oxide biosynthetic process
GO:0009890 negative regulation of biosynthetic process
GO:0042133 neurotransmitter metabolic process
GO:0043105 negative regulation of GTP cyclohydrolase I activity
GO:0051186 cofactor metabolic process
GO:0051291 protein heterooligomerization
GO:0065003 macromolecular complex assembly

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0030425 dendrite
GO:0031965 nuclear membrane
GO:0032991 macromolecular complex
GO:0042470 melanosome

-  Descriptions from all associated GenBank mRNAs
  AK223430 - Homo sapiens mRNA for GTP cyclohydrolase I feedback regulatory protein variant, clone: FCC110H11.
AK311872 - Homo sapiens cDNA, FLJ92138, Homo sapiens GTP cyclohydrolase I feedback regulatory protein(GCHFR), mRNA.
BC112264 - Homo sapiens GTP cyclohydrolase I feedback regulator, mRNA (cDNA clone MGC:138469 IMAGE:8327732), complete cds.
BC112262 - Homo sapiens GTP cyclohydrolase I feedback regulator, mRNA (cDNA clone MGC:138467 IMAGE:8327730), complete cds.
BC143904 - Homo sapiens GTP cyclohydrolase I feedback regulator, mRNA (cDNA clone MGC:177439 IMAGE:9052422), complete cds.
JD196284 - Sequence 177308 from Patent EP1572962.
JD065037 - Sequence 46061 from Patent EP1572962.
JD459030 - Sequence 440054 from Patent EP1572962.
HQ258032 - Synthetic construct Homo sapiens clone IMAGE:100072341 GTP cyclohydrolase I feedback regulator (GCHFR) gene, encodes complete protein.
KJ891229 - Synthetic construct Homo sapiens clone ccsbBroadEn_00623 GCHFR gene, encodes complete protein.
JD279393 - Sequence 260417 from Patent EP1572962.
JD482955 - Sequence 463979 from Patent EP1572962.
JD172876 - Sequence 153900 from Patent EP1572962.
JD310753 - Sequence 291777 from Patent EP1572962.
JD422545 - Sequence 403569 from Patent EP1572962.
JD056460 - Sequence 37484 from Patent EP1572962.
JD132906 - Sequence 113930 from Patent EP1572962.
JD142993 - Sequence 124017 from Patent EP1572962.
JD222315 - Sequence 203339 from Patent EP1572962.
JD157475 - Sequence 138499 from Patent EP1572962.
JD458133 - Sequence 439157 from Patent EP1572962.
JD380685 - Sequence 361709 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P30047 (Reactome details) participates in the following event(s):

R-HSA-1474158 GCHFR binds to GCH1 and negatively regulates its activity
R-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
R-HSA-8978934 Metabolism of cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R4L6, ENST00000260447.1, ENST00000260447.2, ENST00000260447.3, ENST00000260447.4, ENST00000260447.5, GFRP, GFRP_HUMAN, NM_005258, P30047, Q2M1Q2, Q99749, uc001zmr.1, uc001zmr.2, uc001zmr.3
UCSC ID: ENST00000260447.6
RefSeq Accession: NM_005258
Protein: P30047 (aka GFRP_HUMAN)
CCDS: CCDS10064.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.