UniProtKB - P30047 (GFRP_HUMAN)
Protein
GTP cyclohydrolase 1 feedback regulatory protein
Gene
GCHFR
Organism
Homo sapiens (Human)
Status
Functioni
Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine.1 Publication
GO - Molecular functioni
- amino acid binding Source: Ensembl
- enzyme inhibitor activity Source: Ensembl
- GTP cyclohydrolase binding Source: GO_Central
- GTP-dependent protein binding Source: Ensembl
- protein-containing complex binding Source: Ensembl
GO - Biological processi
- negative regulation of biosynthetic process Source: InterPro
- negative regulation of GTP cyclohydrolase I activity Source: GO_Central
- neurotransmitter metabolic process Source: ProtInc
- nitric oxide biosynthetic process Source: ProtInc
- protein-containing complex assembly Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | P30047 |
Reactomei | R-HSA-1474151, Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation |
SIGNORi | P30047 |
Names & Taxonomyi
Protein namesi | Recommended name: GTP cyclohydrolase 1 feedback regulatory proteinShort name: GFRP Alternative name(s): GTP cyclohydrolase I feedback regulatory protein p35 |
Gene namesi | Name:GCHFR Synonyms:GFRP |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000137880.5 |
HGNCi | HGNC:4194, GCHFR |
MIMi | 602437, gene |
neXtProti | NX_P30047 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
- Nucleus membrane 1 Publication
Cytosol
- cytosol 1 Publication
Cytosol
- cytosol Source: Reactome
Nucleus
- nuclear membrane Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- dendrite Source: UniProtKB
- melanosome Source: UniProtKB
- protein-containing complex Source: Ensembl
Keywords - Cellular componenti
Cytoplasm, Membrane, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 2644 |
OpenTargetsi | ENSG00000137880 |
PharmGKBi | PA28609 |
Miscellaneous databases
Pharosi | P30047, Tbio |
Polymorphism and mutation databases
BioMutai | GCHFR |
DMDMi | 2506906 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000189675 | 2 – 84 | GTP cyclohydrolase 1 feedback regulatory proteinAdd BLAST | 83 |
Proteomic databases
EPDi | P30047 |
jPOSTi | P30047 |
MassIVEi | P30047 |
MaxQBi | P30047 |
PaxDbi | P30047 |
PeptideAtlasi | P30047 |
PRIDEi | P30047 |
ProteomicsDBi | 54627 [P30047-1] 7228 |
2D gel databases
SWISS-2DPAGEi | P30047 |
PTM databases
iPTMneti | P30047 |
PhosphoSitePlusi | P30047 |
Expressioni
Tissue specificityi
In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000137880, Expressed in right lobe of liver and 175 other tissues |
ExpressionAtlasi | P30047, baseline and differential |
Genevisiblei | P30047, HS |
Organism-specific databases
HPAi | ENSG00000137880, Tissue enhanced (liver) |
Interactioni
Subunit structurei
Homopentamer.
Forms a complex with GCH1 where a GCH1 homodecamer is sandwiched by two GFRP homopentamers (By similarity).
Interacts with GCH1.
By similarity1 PublicationGO - Molecular functioni
- GTP cyclohydrolase binding Source: GO_Central
- GTP-dependent protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 108914, 17 interactors |
IntActi | P30047, 12 interactors |
STRINGi | 9606.ENSP00000260447 |
Miscellaneous databases
RNActi | P30047, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the GFRP family.Curated
Phylogenomic databases
eggNOGi | ENOG502S4A0, Eukaryota |
GeneTreei | ENSGT00440000033849 |
HOGENOMi | CLU_195651_0_0_1 |
InParanoidi | P30047 |
OMAi | GQTCIWT |
OrthoDBi | 1560576at2759 |
PhylomeDBi | P30047 |
TreeFami | TF329303 |
Family and domain databases
Gene3Di | 3.30.1410.10, 1 hit |
InterProi | View protein in InterPro IPR036717, GFRP_sf IPR009112, GTP_CycHdrlase_I_reg |
PANTHERi | PTHR16852, PTHR16852, 1 hit |
Pfami | View protein in Pfam PF06399, GFRP, 1 hit |
SUPFAMi | SSF69761, SSF69761, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P30047-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPYLLISTQI RMEVGPTMVG DEQSDPELMQ HLGASKRRAL GNNFYEYYVD
60 70 80
DPPRIVLDKL ERRGFRVLSM TGVGQTLVWC LHKE
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YNX7 | H0YNX7_HUMAN | GTP cyclohydrolase 1 feedback regul... | GCHFR hCG_38967 | 67 | Annotation score: | ||
H0YNM1 | H0YNM1_HUMAN | GTP cyclohydrolase 1 feedback regul... | GCHFR | 44 | Annotation score: | ||
A0A087WTI4 | A0A087WTI4_HUMAN | GTP cyclohydrolase 1 feedback regul... | GCHFR | 13 | Annotation score: |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055592 | 13 – 23 | Missing in isoform 2. 1 PublicationAdd BLAST | 11 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U78190 Genomic DNA Translation: AAB37337.1 AK311872 mRNA Translation: BAG34813.1 AC012476 Genomic DNA No translation available. CH471125 Genomic DNA Translation: EAW92443.1 BC112262 mRNA Translation: AAI12263.1 BC112264 mRNA Translation: AAI12265.1 BC143904 mRNA Translation: AAI43905.1 |
CCDSi | CCDS10064.1 [P30047-1] |
RefSeqi | NP_005249.1, NM_005258.2 [P30047-1] |
Genome annotation databases
Ensembli | ENST00000260447; ENSP00000260447; ENSG00000137880 [P30047-1] ENST00000559445; ENSP00000453871; ENSG00000137880 [P30047-2] |
GeneIDi | 2644 |
KEGGi | hsa:2644 |
UCSCi | uc001zmr.2, human [P30047-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U78190 Genomic DNA Translation: AAB37337.1 AK311872 mRNA Translation: BAG34813.1 AC012476 Genomic DNA No translation available. CH471125 Genomic DNA Translation: EAW92443.1 BC112262 mRNA Translation: AAI12263.1 BC112264 mRNA Translation: AAI12265.1 BC143904 mRNA Translation: AAI43905.1 |
CCDSi | CCDS10064.1 [P30047-1] |
RefSeqi | NP_005249.1, NM_005258.2 [P30047-1] |
3D structure databases
SMRi | P30047 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108914, 17 interactors |
IntActi | P30047, 12 interactors |
STRINGi | 9606.ENSP00000260447 |
PTM databases
iPTMneti | P30047 |
PhosphoSitePlusi | P30047 |
Polymorphism and mutation databases
BioMutai | GCHFR |
DMDMi | 2506906 |
2D gel databases
SWISS-2DPAGEi | P30047 |
Proteomic databases
EPDi | P30047 |
jPOSTi | P30047 |
MassIVEi | P30047 |
MaxQBi | P30047 |
PaxDbi | P30047 |
PeptideAtlasi | P30047 |
PRIDEi | P30047 |
ProteomicsDBi | 54627 [P30047-1] 7228 |
Protocols and materials databases
Antibodypediai | 23158, 213 antibodies |
DNASUi | 2644 |
Genome annotation databases
Ensembli | ENST00000260447; ENSP00000260447; ENSG00000137880 [P30047-1] ENST00000559445; ENSP00000453871; ENSG00000137880 [P30047-2] |
GeneIDi | 2644 |
KEGGi | hsa:2644 |
UCSCi | uc001zmr.2, human [P30047-1] |
Organism-specific databases
CTDi | 2644 |
DisGeNETi | 2644 |
EuPathDBi | HostDB:ENSG00000137880.5 |
GeneCardsi | GCHFR |
HGNCi | HGNC:4194, GCHFR |
HPAi | ENSG00000137880, Tissue enhanced (liver) |
MIMi | 602437, gene |
neXtProti | NX_P30047 |
OpenTargetsi | ENSG00000137880 |
PharmGKBi | PA28609 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S4A0, Eukaryota |
GeneTreei | ENSGT00440000033849 |
HOGENOMi | CLU_195651_0_0_1 |
InParanoidi | P30047 |
OMAi | GQTCIWT |
OrthoDBi | 1560576at2759 |
PhylomeDBi | P30047 |
TreeFami | TF329303 |
Enzyme and pathway databases
PathwayCommonsi | P30047 |
Reactomei | R-HSA-1474151, Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation |
SIGNORi | P30047 |
Miscellaneous databases
BioGRID-ORCSi | 2644, 3 hits in 844 CRISPR screens |
GeneWikii | GCHFR |
GenomeRNAii | 2644 |
Pharosi | P30047, Tbio |
PROi | PR:P30047 |
RNActi | P30047, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000137880, Expressed in right lobe of liver and 175 other tissues |
ExpressionAtlasi | P30047, baseline and differential |
Genevisiblei | P30047, HS |
Family and domain databases
Gene3Di | 3.30.1410.10, 1 hit |
InterProi | View protein in InterPro IPR036717, GFRP_sf IPR009112, GTP_CycHdrlase_I_reg |
PANTHERi | PTHR16852, PTHR16852, 1 hit |
Pfami | View protein in Pfam PF06399, GFRP, 1 hit |
SUPFAMi | SSF69761, SSF69761, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GFRP_HUMAN | |
Accessioni | P30047Primary (citable) accession number: P30047 Secondary accession number(s): B2R4L6 Q99749 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1993 |
Last sequence update: | January 23, 2007 | |
Last modified: | December 2, 2020 | |
This is version 151 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM