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P30047

- GFRP_HUMAN

UniProt

P30047 - GFRP_HUMAN

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Protein

GTP cyclohydrolase 1 feedback regulatory protein

Gene

GCHFR

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. amino acid binding Source: Ensembl
  2. enzyme inhibitor activity Source: Ensembl

GO - Biological processi

  1. negative regulation of biosynthetic process Source: InterPro
  2. negative regulation of GTP cyclohydrolase I activity Source: Ensembl
  3. neurotransmitter metabolic process Source: ProtInc
  4. nitric oxide biosynthetic process Source: ProtInc
  5. nitric oxide metabolic process Source: Reactome
  6. protein heterooligomerization Source: Ensembl
  7. regulation of nitric-oxide synthase activity Source: Reactome
  8. small molecule metabolic process Source: Reactome
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: Chromosome 15

Organism-specific databases

HGNCiHGNC:4194. GCHFR.

Subcellular locationi

Nucleus 1 Publication. Nucleus membrane 1 Publication. Cytoplasmcytosol 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: Reactome
  3. dendrite Source: UniProtKB
  4. melanosome Source: UniProtKB
  5. nuclear membrane Source: UniProtKB
  6. nucleus Source: UniProtKB
  7. protein complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28609.

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.
GenevestigatoriP30047.

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. 3 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.
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. Align

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:
EMBL
GenBank
DDBJ
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.1. human. [P30047-1]

Polymorphism databases

DMDMi2506906.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Positions 2-84.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108914. 3 interactions.
IntActi P30047. 1 interaction.
STRINGi 9606.ENSP00000260447.

PTM databases

PhosphoSitei P30047.

Polymorphism databases

DMDMi 2506906.

2D gel databases

SWISS-2DPAGE P30047.

Proteomic databases

MaxQBi P30047.
PaxDbi P30047.
PeptideAtlasi P30047.
PRIDEi P30047.

Protocols and materials databases

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.1. human. [P30047-1 ]

Organism-specific databases

CTDi 2644.
GeneCardsi GC15P041058.
HGNCi HGNC:4194. GCHFR.
HPAi HPA046258.
MIMi 602437. gene.
neXtProti NX_P30047.
PharmGKBi PA28609.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41956.
GeneTreei ENSGT00440000033849.
HOGENOMi HOG000008074.
HOVERGENi HBG000233.
InParanoidi P30047.
OrthoDBi EOG7N63Q7.
PhylomeDBi P30047.
TreeFami TF329303.

Enzyme and pathway databases

Reactomei REACT_111176. Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation.

Miscellaneous databases

GeneWikii GCHFR.
GenomeRNAii 2644.
NextBioi 10430.
PROi P30047.
SOURCEi Search...

Gene expression databases

Bgeei P30047.
CleanExi HS_GCHFR.
ExpressionAtlasi P30047. baseline and differential.
Genevestigatori P30047.

Family and domain databases

Gene3Di 3.30.1410.10. 1 hit.
InterProi IPR009112. GTP_CycHdrlase_I_reg.
[Graphical view ]
Pfami PF06399. GFRP. 1 hit.
[Graphical view ]
ProDomi PD028559. GTP_CycHdrlase_I_reg. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
SUPFAMi SSF69761. SSF69761. 1 hit.
ProtoNeti Search...

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].

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: October 29, 2014
This is version 108 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