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Protein

GTP cyclohydrolase 1 feedback regulatory protein

Gene

GCHFR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
SIGNORiP30047

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000137880.5
HGNCiHGNC:4194 GCHFR
MIMi602437 gene
neXtProtiNX_P30047

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi2644
OpenTargetsiENSG00000137880
PharmGKBiPA28609

Polymorphism and mutation databases

BioMutaiGCHFR
DMDMi2506906

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00001896752 – 84GTP cyclohydrolase 1 feedback regulatory proteinAdd BLAST83

Proteomic databases

EPDiP30047
MaxQBiP30047
PaxDbiP30047
PeptideAtlasiP30047
PRIDEiP30047
ProteomicsDBi54627

2D gel databases

SWISS-2DPAGEiP30047

PTM databases

iPTMnetiP30047
PhosphoSitePlusiP30047

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

BgeeiENSG00000137880 Expressed in 161 organ(s), highest expression level in right lobe of liver
CleanExiHS_GCHFR
ExpressionAtlasiP30047 baseline and differential
GenevisibleiP30047 HS

Organism-specific databases

HPAiHPA046258

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

Protein-protein interaction databases

BioGridi108914, 17 interactors
IntActiP30047, 1 interactor
STRINGi9606.ENSP00000260447

Structurei

3D structure databases

ProteinModelPortaliP30047
SMRiP30047
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GFRP family.Curated

Phylogenomic databases

eggNOGiENOG410J0GT Eukaryota
ENOG4111X10 LUCA
GeneTreeiENSGT00440000033849
HOGENOMiHOG000008074
HOVERGENiHBG000233
InParanoidiP30047
OMAiTMVGDEY
OrthoDBiEOG091G15IO
PhylomeDBiP30047
TreeFamiTF329303

Family and domain databases

Gene3Di3.30.1410.10, 1 hit
InterProiView protein in InterPro
IPR036717 GFRP_sf
IPR009112 GTP_CycHdrlase_I_reg
PANTHERiPTHR16852 PTHR16852, 1 hit
PfamiView protein in Pfam
PF06399 GFRP, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD028559 GTP_CycHdrlase_I_reg, 1 hit
SUPFAMiSSF69761 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. AlignAdd to basket

This 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 '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]FASTAAdd to basket

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

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.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YNX7H0YNX7_HUMAN
GTP cyclohydrolase 1 feedback regul...
GCHFR hCG_38967
67Annotation score:
H0YNM1H0YNM1_HUMAN
GTP cyclohydrolase 1 feedback regul...
GCHFR
44Annotation score:
A0A087WTI4A0A087WTI4_HUMAN
GTP cyclohydrolase 1 feedback regul...
GCHFR
13Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05559213 – 23Missing in isoform 2. 1 PublicationAdd BLAST11

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
CCDSiCCDS10064.1 [P30047-1]
RefSeqiNP_005249.1, NM_005258.2 [P30047-1]
UniGeneiHs.631717

Genome annotation databases

EnsembliENST00000260447; ENSP00000260447; ENSG00000137880 [P30047-1]
ENST00000559445; ENSP00000453871; ENSG00000137880 [P30047-2]
GeneIDi2644
KEGGihsa:2644
UCSCiuc001zmr.2 human [P30047-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS10064.1 [P30047-1]
RefSeqiNP_005249.1, NM_005258.2 [P30047-1]
UniGeneiHs.631717

3D structure databases

ProteinModelPortaliP30047
SMRiP30047
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108914, 17 interactors
IntActiP30047, 1 interactor
STRINGi9606.ENSP00000260447

PTM databases

iPTMnetiP30047
PhosphoSitePlusiP30047

Polymorphism and mutation databases

BioMutaiGCHFR
DMDMi2506906

2D gel databases

SWISS-2DPAGEiP30047

Proteomic databases

EPDiP30047
MaxQBiP30047
PaxDbiP30047
PeptideAtlasiP30047
PRIDEiP30047
ProteomicsDBi54627

Protocols and materials databases

DNASUi2644
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260447; ENSP00000260447; ENSG00000137880 [P30047-1]
ENST00000559445; ENSP00000453871; ENSG00000137880 [P30047-2]
GeneIDi2644
KEGGihsa:2644
UCSCiuc001zmr.2 human [P30047-1]

Organism-specific databases

CTDi2644
DisGeNETi2644
EuPathDBiHostDB:ENSG00000137880.5
GeneCardsiGCHFR
HGNCiHGNC:4194 GCHFR
HPAiHPA046258
MIMi602437 gene
neXtProtiNX_P30047
OpenTargetsiENSG00000137880
PharmGKBiPA28609
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J0GT Eukaryota
ENOG4111X10 LUCA
GeneTreeiENSGT00440000033849
HOGENOMiHOG000008074
HOVERGENiHBG000233
InParanoidiP30047
OMAiTMVGDEY
OrthoDBiEOG091G15IO
PhylomeDBiP30047
TreeFamiTF329303

Enzyme and pathway databases

ReactomeiR-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
SIGNORiP30047

Miscellaneous databases

GeneWikiiGCHFR
GenomeRNAii2644
PROiPR:P30047
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137880 Expressed in 161 organ(s), highest expression level in right lobe of liver
CleanExiHS_GCHFR
ExpressionAtlasiP30047 baseline and differential
GenevisibleiP30047 HS

Family and domain databases

Gene3Di3.30.1410.10, 1 hit
InterProiView protein in InterPro
IPR036717 GFRP_sf
IPR009112 GTP_CycHdrlase_I_reg
PANTHERiPTHR16852 PTHR16852, 1 hit
PfamiView protein in Pfam
PF06399 GFRP, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD028559 GTP_CycHdrlase_I_reg, 1 hit
SUPFAMiSSF69761 SSF69761, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGFRP_HUMAN
AccessioniPrimary (citable) accession number: P30047
Secondary accession number(s): B2R4L6
, B7ZLM8, Q2M1Q2, Q99749
Entry historyiIntegrated 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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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