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Protein

GTP cyclohydrolase 1 feedback regulatory protein

Gene

GCHFR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_111176. Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation.

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
ProteomesiUP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:4194. GCHFR.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • dendrite Source: UniProtKB
  • melanosome Source: UniProtKB
  • nuclear membrane Source: UniProtKB
  • nucleus Source: UniProtKB
  • protein complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28609.

Polymorphism and mutation databases

BioMutaiGCHFR.
DMDMi2506906.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 8483GTP cyclohydrolase 1 feedback regulatory proteinPRO_0000189675Add
BLAST

Proteomic databases

MaxQBiP30047.
PaxDbiP30047.
PeptideAtlasiP30047.
PRIDEiP30047.

2D gel databases

SWISS-2DPAGEP30047.

PTM databases

PhosphoSiteiP30047.

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

BgeeiP30047.
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

Protein-protein interaction databases

BioGridi108914. 4 interactions.
IntActiP30047. 1 interaction.
STRINGi9606.ENSP00000260447.

Structurei

3D structure databases

ProteinModelPortaliP30047.
SMRiP30047. Positions 2-84.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GFRP family.Curated

Phylogenomic databases

eggNOGiNOG41956.
GeneTreeiENSGT00440000033849.
HOGENOMiHOG000008074.
HOVERGENiHBG000233.
InParanoidiP30047.
OMAiTMVGDEY.
OrthoDBiEOG7N63Q7.
PhylomeDBiP30047.
TreeFamiTF329303.

Family and domain databases

Gene3Di3.30.1410.10. 1 hit.
InterProiIPR009112. GTP_CycHdrlase_I_reg.
[Graphical view]
PfamiPF06399. GFRP. 1 hit.
[Graphical view]
ProDomiPD028559. GTP_CycHdrlase_I_reg. 1 hit.
[Graphical view] [Entries sharing at least one domain]
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

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei13 – 2311Missing in isoform 2. 1 PublicationVSP_055592Add
BLAST

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.
ENST00000559445; ENSP00000453871; ENSG00000137880. [P30047-2]
GeneIDi2644.
KEGGihsa:2644.
UCSCiuc001zmr.1. human. [P30047-1]
uc010ucr.1. human.

Keywords - Coding sequence diversityi

Alternative splicing

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. Positions 2-84.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108914. 4 interactions.
IntActiP30047. 1 interaction.
STRINGi9606.ENSP00000260447.

PTM databases

PhosphoSiteiP30047.

Polymorphism and mutation databases

BioMutaiGCHFR.
DMDMi2506906.

2D gel databases

SWISS-2DPAGEP30047.

Proteomic databases

MaxQBiP30047.
PaxDbiP30047.
PeptideAtlasiP30047.
PRIDEiP30047.

Protocols and materials databases

DNASUi2644.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260447; ENSP00000260447; ENSG00000137880.
ENST00000559445; ENSP00000453871; ENSG00000137880. [P30047-2]
GeneIDi2644.
KEGGihsa:2644.
UCSCiuc001zmr.1. human. [P30047-1]
uc010ucr.1. human.

Organism-specific databases

CTDi2644.
GeneCardsiGC15P041058.
HGNCiHGNC:4194. GCHFR.
HPAiHPA046258.
MIMi602437. gene.
neXtProtiNX_P30047.
PharmGKBiPA28609.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG41956.
GeneTreeiENSGT00440000033849.
HOGENOMiHOG000008074.
HOVERGENiHBG000233.
InParanoidiP30047.
OMAiTMVGDEY.
OrthoDBiEOG7N63Q7.
PhylomeDBiP30047.
TreeFamiTF329303.

Enzyme and pathway databases

ReactomeiREACT_111176. Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation.

Miscellaneous databases

GeneWikiiGCHFR.
GenomeRNAii2644.
NextBioi10430.
PROiP30047.
SOURCEiSearch...

Gene expression databases

BgeeiP30047.
CleanExiHS_GCHFR.
ExpressionAtlasiP30047. baseline and differential.
GenevisibleiP30047. HS.

Family and domain databases

Gene3Di3.30.1410.10. 1 hit.
InterProiIPR009112. GTP_CycHdrlase_I_reg.
[Graphical view]
PfamiPF06399. GFRP. 1 hit.
[Graphical view]
ProDomiPD028559. GTP_CycHdrlase_I_reg. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SUPFAMiSSF69761. SSF69761. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Structure of the human GTP cyclohydrolase I feedback regulatory protein gene."
    Bonner T.I., Modi W.S., Milstein S.
    Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Liver.
  3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Colon.
  6. "Human liver protein map: a reference database established by microsequencing and gel comparison."
    Hochstrasser D.F., Frutiger S., Paquet N., Bairoch A., Ravier F., Pasquali C., Sanchez J.-C., Tissot J.-D., Bjellqvist B., Vargas R., Appel R.D., Hughes G.J.
    Electrophoresis 13:992-1001(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-12.
    Tissue: Liver.
  7. "GTP cyclohydrolase feedback regulatory protein controls cofactor 6-tetrahydrobiopterin synthesis in the cytosol and in the nucleus of epidermal keratinocytes and melanocytes."
    Chavan B., Gillbro J.M., Rokos H., Schallreuter K.U.
    J. Invest. Dermatol. 126:2481-2489(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  8. "A yeast 2-hybrid analysis of human GTP cyclohydrolase I protein interactions."
    Swick L., Kapatos G.
    J. Neurochem. 97:1447-1455(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH GCH1.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiGFRP_HUMAN
AccessioniPrimary (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: July 22, 2015
This is version 113 of the entry and version 3 of the sequence. [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. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.