P30047 (GFRP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
GTP cyclohydrolase 1 feedback regulatory protein
Short name=GFRP

Alternative name(s):
GTP cyclohydrolase I feedback regulatory protein
p35

Gene names

Name:	GCHFR
Synonyms:	GFRP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	84 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine. Ref.6
Subunit structure	Homopentamer. Forms a complex with GCH1 where a GCH1 homodecamer is sandwiched by two GFRP homopentamers By similarity. Interacts with GCH1. Ref.7
Subcellular location	Nucleus. Nucleus membrane. Cytoplasm › cytosol Ref.6.
Tissue specificity	In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). Ref.6
Sequence similarities	Belongs to the GFRP family.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane Nucleus
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of GTP cyclohydrolase I activity Inferred from electronic annotation. Source: Compara negative regulation of biosynthetic process Inferred from electronic annotation. Source: InterPro neurotransmitter metabolic process Traceable author statement PubMed 8702680. Source: ProtInc nitric oxide biosynthetic process Traceable author statement PubMed 8702680. Source: ProtInc protein heterooligomerization Inferred from electronic annotation. Source: Compara regulation of nitric-oxide synthase activity Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome dendrite Inferred from direct assay Ref.6. Source: UniProtKB melanosome Inferred from direct assay Ref.6. Source: UniProtKB nuclear membrane Inferred from direct assay Ref.6. Source: UniProtKB protein complex Inferred from electronic annotation. Source: Compara
Molecular_function	amino acid binding Inferred from electronic annotation. Source: Compara enzyme inhibitor activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.5
	Chain	2 – 84	83	GTP cyclohydrolase 1 feedback regulatory protein		PRO_0000189675

Sequences

	Sequence		Length	Mass (Da)
	P30047 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 4A20FDBC6E3EE7AC	FASTA	84	9,698
	10 20 30 40 50 60 MPYLLISTQI RMEVGPTMVG DEQSDPELMQ HLGASKRRAL GNNFYEYYVD DPPRIVLDKL 70 80 ERRGFRVLSM TGVGQTLVWC LHKE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]. Tissue: Liver.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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]. Tissue: Colon.
[5]	"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.
[6]	"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.
[7]	"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.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U78190 Genomic DNA. Translation: AAB37337.1. AK311872 mRNA. Translation: BAG34813.1. CH471125 Genomic DNA. Translation: EAW92443.1. BC112262 mRNA. Translation: AAI12263.1. BC112264 mRNA. Translation: AAI12265.1.
IPI	IPI00217253.
RefSeq	NP_005249.1. NM_005258.2.
UniGene	Hs.631717.
3D structure databases
ProteinModelPortal	P30047.
ModBase	Search...
Protein-protein interaction databases
IntAct	P30047. 1 interaction.
STRING	9606.ENSP00000260447.
PTM databases
PhosphoSite	P30047.
Polymorphism databases
DMDM	2506906.
2D gel databases
SWISS-2DPAGE	P30047.
Proteomic databases
PaxDb	P30047.
PeptideAtlas	P30047.
PRIDE	P30047.
Protocols and materials databases
DNASU	2644.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000260447; ENSP00000260447; ENSG00000137880.
GeneID	2644.
KEGG	hsa:2644.
UCSC	uc001zmr.1. human.
Organism-specific databases
CTD	2644.
GeneCards	GC15P041058.
HGNC	HGNC:4194. GCHFR.
HPA	HPA046258.
MIM	602437. gene.
neXtProt	NX_P30047.
PharmGKB	PA28609.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41956.
HOGENOM	HOG000008074.
HOVERGEN	HBG000233.
InParanoid	P30047.
OMA	TMVGDEY.
OrthoDB	EOG4B5P6V.
PhylomeDB	P30047.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	P30047.
Bgee	P30047.
CleanEx	HS_GCHFR.
Genevestigator	P30047.
GermOnline	ENSG00000137880. Homo sapiens.
Family and domain databases
Gene3D	3.30.1410.10. 1 hit.
InterPro	IPR009112. GTP_CycHdrlase_I_reg. [Graphical view]
Pfam	PF06399. GFRP. 1 hit. [Graphical view]
ProDom	PD028559. GTP_CycHdrlase_I_reg. 1 hit. [Graphical view] [Entries sharing at least one domain]
SUPFAM	SSF69761. GTP_cyclohydro_I_reg. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	2644.
NextBio	10430.
SOURCE	Search...

Entry information

Entry name

GFRP_HUMAN

Accession

Primary (citable) accession number: P30047
Secondary accession number(s): B2R4L6, Q2M1Q2, Q99749

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1993
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 96 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.