LOCUS       NM_005258                727 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens GTP cyclohydrolase I feedback regulator (GCHFR), mRNA.
ACCESSION   NM_005258
VERSION     NM_005258.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 727)
  AUTHORS   Ebenhoch,R., Bauer,M., Reinert,D., Kersting,A., Huber,S.,
            Schmid,A., Hinz,I., Feiler,M., Muller,K. and Nar,H.
  TITLE     Biophysical and structural investigation of the regulation of human
            GTP cyclohydrolase I by its regulatory protein GFRP
  JOURNAL   J Struct Biol 213 (1), 107691 (2021)
   PUBMED   33387654
  REMARK    GeneRIF: Biophysical and structural investigation of the regulation
            of human GTP cyclohydrolase I by its regulatory protein GFRP.
REFERENCE   2  (bases 1 to 727)
  AUTHORS   Ebenhoch,R., Prinz,S., Kaltwasser,S., Mills,D.J., Meinecke,R.,
            Rubbelke,M., Reinert,D., Bauer,M., Weixler,L., Zeeb,M., Vonck,J.
            and Nar,H.
  TITLE     A hybrid approach reveals the allosteric regulation of GTP
            cyclohydrolase I
  JOURNAL   Proc Natl Acad Sci U S A 117 (50), 31838-31849 (2020)
   PUBMED   33229582
  REMARK    GeneRIF: A hybrid approach reveals the allosteric regulation of GTP
            cyclohydrolase I.
REFERENCE   3  (bases 1 to 727)
  AUTHORS   McHugh,P.C., Joyce,P.R., Deng,X. and Kennedy,M.A.
  TITLE     A polymorphism of the GTP-cyclohydrolase I feedback regulator gene
            alters transcriptional activity and may affect response to SSRI
            antidepressants
  JOURNAL   Pharmacogenomics J 11 (3), 207-213 (2011)
   PUBMED   20351752
  REMARK    GeneRIF: homozygous individuals for the TT haplotype were less
            likely to respond to the SSRI fluoxetine than to the nortriptyline
            suggesting a biological process through which GCHFR promoter
            variants might influence antidepressant response.
            GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 727)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 727)
  AUTHORS   Li,L., Rezvan,A., Salerno,J.C., Husain,A., Kwon,K., Jo,H.,
            Harrison,D.G. and Chen,W.
  TITLE     GTP cyclohydrolase I phosphorylation and interaction with GTP
            cyclohydrolase feedback regulatory protein provide novel regulation
            of endothelial tetrahydrobiopterin and nitric oxide
  JOURNAL   Circ Res 106 (2), 328-336 (2010)
   PUBMED   19926872
  REMARK    GeneRIF: Studies provide a new mechanism for regulation of
            endothelial GTPCH-1 by its phosphorylation and interplay with GFRP.
REFERENCE   6  (bases 1 to 727)
  AUTHORS   Werner,E.R., Bahrami,S., Heller,R. and Werner-Felmayer,G.
  TITLE     Bacterial lipopolysaccharide down-regulates expression of GTP
            cyclohydrolase I feedback regulatory protein
  JOURNAL   J Biol Chem 277 (12), 10129-10133 (2002)
   PUBMED   11799107
  REMARK    GeneRIF: Bacterial lipopolysaccharide down-regulates expression of
            GTP cyclohydrolase I feedback regulatory protein
REFERENCE   7  (bases 1 to 727)
  AUTHORS   Bader,G., Schiffmann,S., Herrmann,A., Fischer,M., Gutlich,M.,
            Auerbach,G., Ploom,T., Bacher,A., Huber,R. and Lemm,T.
  TITLE     Crystal structure of rat GTP cyclohydrolase I feedback regulatory
            protein, GFRP
  JOURNAL   J Mol Biol 312 (5), 1051-1057 (2001)
   PUBMED   11580249
  REMARK    GeneRIF: crystal structure
REFERENCE   8  (bases 1 to 727)
  AUTHORS   Yoneyama,T., Brewer,J.M. and Hatakeyama,K.
  TITLE     GTP cyclohydrolase I feedback regulatory protein is a pentamer of
            identical subunits. Purification, cDNA cloning, and bacterial
            expression
  JOURNAL   J Biol Chem 272 (15), 9690-9696 (1997)
   PUBMED   9092499
REFERENCE   9  (bases 1 to 727)
  AUTHORS   Milstien,S., Jaffe,H., Kowlessur,D. and Bonner,T.I.
  TITLE     Purification and cloning of the GTP cyclohydrolase I feedback
            regulatory protein, GFRP
  JOURNAL   J Biol Chem 271 (33), 19743-19751 (1996)
   PUBMED   8702680
REFERENCE   10 (bases 1 to 727)
  AUTHORS   Hochstrasser,D.F., Frutiger,S., Paquet,N., Bairoch,A., Ravier,F.,
            Pasquali,C., Sanchez,J.C., Tissot,J.D., Bjellqvist,B., Vargas,R. et
            al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012476.8.
            
            On Nov 26, 2018 this sequence version replaced NM_005258.2.
            
            Summary: GTP cyclohydrolase I feedback regulatory protein binds to
            and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase
            I. The regulatory protein, GCHFR, consists of a homodimer. It is
            postulated that GCHFR may play a role in regulating phenylalanine
            metabolism in the liver and in the production of biogenic amine
            neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK223430.1, SRR1163657.441672.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260447.6/ ENSP00000260447.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-149               AC012476.8         77416-77564
            150-244             AC012476.8         79175-79269
            245-727             AC012476.8         80574-81056
FEATURES             Location/Qualifiers
     source          1..727
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     gene            1..727
                     /gene="GCHFR"
                     /gene_synonym="GFRP; HsT16933; P35"
                     /note="GTP cyclohydrolase I feedback regulator"
                     /db_xref="GeneID:2644"
                     /db_xref="HGNC:HGNC:4194"
                     /db_xref="MIM:602437"
     exon            1..149
                     /gene="GCHFR"
                     /gene_synonym="GFRP; HsT16933; P35"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..368
                     /gene="GCHFR"
                     /gene_synonym="GFRP; HsT16933; P35"
                     /note="GTP cyclohydrolase I feedback regulatory protein"
                     /codon_start=1
                     /product="GTP cyclohydrolase 1 feedback regulatory
                     protein"
                     /protein_id="NP_005249.1"
                     /db_xref="CCDS:CCDS10064.1"
                     /db_xref="GeneID:2644"
                     /db_xref="HGNC:HGNC:4194"
                     /db_xref="MIM:602437"
                     /translation="MPYLLISTQIRMEVGPTMVGDEQSDPELMQHLGASKRRALGNNF
                     YEYYVDDPPRIVLDKLERRGFRVLSMTGVGQTLVWCLHKE"
     exon            150..244
                     /gene="GCHFR"
                     /gene_synonym="GFRP; HsT16933; P35"
                     /inference="alignment:Splign:2.1.0"
     exon            245..727
                     /gene="GCHFR"
                     /gene_synonym="GFRP; HsT16933; P35"
                     /inference="alignment:Splign:2.1.0"
     regulatory      707..712
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCHFR"
                     /gene_synonym="GFRP; HsT16933; P35"
                     /note="hexamer: AATAAA"
     polyA_site      727
                     /gene="GCHFR"
                     /gene_synonym="GFRP; HsT16933; P35"
                     /note="major polyA site"
ORIGIN      
        1 agagccggag taacgggact cccagctgcg cgtcgcagtc ccgacgcgag aagggctgga
       61 gtcggcgtcc agcctagagc ccccggtggg agccaggccg ggacgcgtgc accatgccct
      121 acctgctcat cagcacccag atccgcatgg aggtgggccc cactatggtg ggcgatgaac
      181 agtcggatcc agagctgatg cagcatctgg gggcttcaaa gagaagagcc ttgggaaaca
      241 acttttatga atactacgtc gatgaccctc cccgcatagt cctggacaag ctggaacgca
      301 ggggcttccg tgtgctgagc atgacggggg tgggccagac gctggtgtgg tgtctgcaca
      361 aggagtgacc ttctcatgct gatttgcaga cggggcaccc ctgtggaggg gctgctgtgg
      421 gccctgacct ccaagctcct gcctcaccgt ctgccttgct cctctcttcc caaatcatca
      481 ccgccatggg cccagcccca aagggcagtg aatggccttc tctgaaaccc tgcgtcaagc
      541 agtgggagag ggcagtgccc ggtgccctgg tgctcccagc tgccctcctg cttcgggcct
      601 gggccgaggg ccttgtgtag gccatgttcc tcgggcagct gccccgggcc ggagctgggc
      661 actccagcgg ccctggcgcg tggctcctgc atagctagcc caagccaata aagggctgtg
      721 atgagtg
//
