GCHFR

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
Inferred from biological aspect of ancestorⁱ
- 21873635
GTP-dependent protein binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cofactor metabolic process Source: Reactome
negative regulation of biosynthetic process Source: InterPro
negative regulation of GTP cyclohydrolase I activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
neurotransmitter metabolic process
Source: ProtInc
Traceable author statementⁱ
- 8702680
nitric oxide biosynthetic process
Source: ProtInc
Traceable author statementⁱ
- 8702680
protein heterooligomerization Source: Ensembl

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
SIGNORⁱ	P30047

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: GTP cyclohydrolase 1 feedback regulatory protein Short 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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 15

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000137880.5
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4194 GCHFR
MIMⁱ	602437 gene
neXtProtⁱ	NX_P30047

Keywords - Cellular componentⁱ

Cytoplasm, Membrane, Nucleus

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2644
Open Targets More...OpenTargetsⁱ	ENSG00000137880
PharmGKBⁱ	PA28609

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
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P30047
PaxDbⁱ	P30047
PeptideAtlas More...PeptideAtlasⁱ	P30047
PRIDEⁱ	P30047
ProteomicsDBⁱ	54627

2D gel databases

SWISS-2DPAGEⁱ	P30047

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 161 organ(s), highest expression level in right lobe of liver
CleanExⁱ	HS_GCHFR
ExpressionAtlasⁱ	P30047 baseline and differential
Genevisibleⁱ	P30047 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA046258

HPAⁱ

HPA046258

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 Publication

GO - Molecular functionⁱ

GTP cyclohydrolase binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
GTP-dependent protein binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108914, 17 interactors
IntActⁱ	P30047, 1 interactor
STRINGⁱ	9606.ENSP00000260447

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P30047
SMRⁱ	P30047
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the GFRP family.Curated

Phylogenomic databases

eggNOGⁱ	ENOG410J0GT Eukaryota ENOG4111X10 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00440000033849
HOGENOMⁱ	HOG000008074
HOVERGENⁱ	HBG000233
InParanoidⁱ	P30047
OMAⁱ	TMVGDEY
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G15IO
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
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF06399 GFRP, 1 hit
ProDomⁱ	View protein in ProDom or Entries sharing at least one domain PD028559 GTP_CycHdrlase_I_reg, 1 hit
SUPFAMⁱ	SSF69761 SSF69761, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: P30047-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPYLLISTQI RMEVGPTMVG DEQSDPELMQ HLGASKRRAL GNNFYEYYVD 
        60         70         80 
DPPRIVLDKL ERRGFRVLSM TGVGQTLVWC LHKE

Length:84

Mass (Da):9,698

Last modified:January 23, 2007 - v3

Checksum:ⁱ4A20FDBC6E3EE7AC

GO

Isoform 2 (identifier: P30047-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
13-23: Missing.

« Hide

        10         20         30         40         50
MPYLLISTQI RMSDPELMQH LGASKRRALG NNFYEYYVDD PPRIVLDKLE 
        60         70 
RRGFRVLSMT GVGQTLVWCL HKE

Note: No experimental confirmation available.

Show »

Length:73

Mass (Da):8,555

Checksum:ⁱE77C65323702436C

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H0YNX7	H0YNX7_HUMAN	GTP cyclohydrolase 1 feedback regul... GTP cyclohydrolase 1 feedback regulatory protein (GTP cyclohydrolase I feedback regulator, isoform CRA_a)	GCHFR hCG_38967	67	Annotation score:
H0YNM1	H0YNM1_HUMAN	GTP cyclohydrolase 1 feedback regul... GTP cyclohydrolase 1 feedback regulatory protein	GCHFR	44	Annotation score:
A0A087WTI4	A0A087WTI4_HUMAN	GTP cyclohydrolase 1 feedback regul... GTP cyclohydrolase 1 feedback regulatory protein	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS10064.1 [P30047-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_005249.1, NM_005258.2 [P30047-1]
UniGeneⁱ	Hs.631717

Genome annotation databases

Ensemblⁱ	ENST00000260447; ENSP00000260447; ENSG00000137880 [P30047-1] ENST00000559445; ENSP00000453871; ENSG00000137880 [P30047-2]
GeneIDⁱ	2644
KEGGⁱ	hsa:2644
UCSC genome browser More...UCSCⁱ	uc001zmr.2 human [P30047-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P30047	GCHFR isoform 1		PANTR		84	UniRef100_P30047
Uncharacterized protein		PANPA		84
GTP cyclohydrolase 1 feedback regulatory protein		HUMAN		67
GCHFR isoform 4		PANTR		67
P30047-2	GCHFR isoform 3		PANTR		73	UniRef100_A0A2J8QDM0

Protein	Similar proteins		Species	Score	Length	Source
P30047	GTP cyclohydrolase 1 feedback regulatory protein		MOUSE		84	UniRef90_P30047
GTP cyclohydrolase 1 feedback regulatory protein	)	RAT		84
GCHFR isoform 1		PANTR		84
Uncharacterized protein		PANPA		84
GTP cyclohydrolase 1 feedback regulatory protein		HUMAN		67
+95
P30047-2	GCHFR isoform 3		PANTR		73	UniRef90_A0A2J8QDM0

Protein	Similar proteins		Species	Score	Length	Source
P30047	GTP cyclohydrolase 1 feedback regulatory protein		MOUSE		84	UniRef50_P30047
GTP cyclohydrolase 1 feedback regulatory protein	)	RAT		84
GCHFR isoform 1		PANTR		84
Uncharacterized protein		PANPA		84
GTP cyclohydrolase 1 feedback regulatory protein		HUMAN		67
+96
P30047-2	Predicted protein		NEMVE		88	UniRef50_A7SW52
GTP cyclohydrolase 1 feedback regulatory protein		SALSA		87
GCHFR isoform 3		PANTR		73
Uncharacterized protein		ORNAN		74
GTP cyclohydrolase 1 feedback regulatory protein		HYDVU		84
+8

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]
UniGeneⁱ	Hs.631717

3D structure databases

ProteinModelPortalⁱ	P30047
SMRⁱ	P30047
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108914, 17 interactors
IntActⁱ	P30047, 1 interactor
STRINGⁱ	9606.ENSP00000260447

PTM databases

iPTMnetⁱ	P30047
PhosphoSitePlusⁱ	P30047

Polymorphism and mutation databases

BioMutaⁱ	GCHFR
DMDMⁱ	2506906

2D gel databases

SWISS-2DPAGEⁱ	P30047

SWISS-2DPAGEⁱ

P30047

Proteomic databases

EPDⁱ	P30047
MaxQBⁱ	P30047
PaxDbⁱ	P30047
PeptideAtlasⁱ	P30047
PRIDEⁱ	P30047
ProteomicsDBⁱ	54627

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	2644
Structural Biology Knowledgebase	Search...

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	HPA046258
MIMⁱ	602437 gene
neXtProtⁱ	NX_P30047
OpenTargetsⁱ	ENSG00000137880
PharmGKBⁱ	PA28609
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410J0GT Eukaryota ENOG4111X10 LUCA
GeneTreeⁱ	ENSGT00440000033849
HOGENOMⁱ	HOG000008074
HOVERGENⁱ	HBG000233
InParanoidⁱ	P30047
OMAⁱ	TMVGDEY
OrthoDBⁱ	EOG091G15IO
PhylomeDBⁱ	P30047
TreeFamⁱ	TF329303

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
SIGNORⁱ	P30047

Miscellaneous databases

GeneWikiⁱ	GCHFR
GenomeRNAiⁱ	2644
Protein Ontology More...PROⁱ	PR:P30047
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000137880 Expressed in 161 organ(s), highest expression level in right lobe of liver
CleanExⁱ	HS_GCHFR
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
ProDomⁱ	View protein in ProDom or Entries sharing at least one domain PD028559 GTP_CycHdrlase_I_reg, 1 hit
SUPFAMⁱ	SSF69761 SSF69761, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	GFRP_HUMAN
Accessionⁱ	P30047Primary (citable) accession number: P30047 Secondary accession number(s): B2R4L6 , B7ZLM8, Q2M1Q2, Q99749
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	April 1, 1993
	Last sequence update:	January 23, 2007
	Last modified:	November 7, 2018
	This is version 138 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM

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UniProtKB - P30047 (GFRP_HUMAN)

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GTP cyclohydrolase 1 feedback regulatory protein

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Cytosol

Cytosol

Nucleus

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

2D gel databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

2D gel databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ