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P30047

- GFRP_HUMAN

UniProt

P30047 - GFRP_HUMAN

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
  1. 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
    3. protein binding Source: UniProtKB

    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

    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

    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

    ArrayExpressiP30047.
    BgeeiP30047.
    CleanExiHS_GCHFR.
    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.
    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

    MPYLLISTQI RMEVGPTMVG DEQSDPELMQ HLGASKRRAL GNNFYEYYVD   50
    DPPRIVLDKL ERRGFRVLSM TGVGQTLVWC LHKE 84
    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.
    RefSeqiNP_005249.1. NM_005258.2.
    UniGeneiHs.631717.

    Genome annotation databases

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

    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.
    RefSeqi NP_005249.1. NM_005258.2.
    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.

    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.
    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

    ArrayExpressi P30047.
    Bgeei P30047.
    CleanExi HS_GCHFR.
    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

    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 1, 2014
    This is version 107 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