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GCHFR GTP cyclohydrolase I feedback regulator [ Homo sapiens (human) ]

Gene ID: 2644, updated on 17-Jun-2024

Summary

Official Symbol
GCHFRprovided by HGNC
Official Full Name
GTP cyclohydrolase I feedback regulatorprovided by HGNC
Primary source
HGNC:HGNC:4194
See related
Ensembl:ENSG00000137880 MIM:602437; AllianceGenome:HGNC:4194
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P35; GFRP; HsT16933
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]
Expression
Broad expression in liver (RPKM 32.0), small intestine (RPKM 26.3) and 23 other tissues See more
Orthologs
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Genomic context

See GCHFR in Genome Data Viewer
Location:
15q15.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40764068..40767708)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38570090..38573730)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41056266..41059906)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41032727-41033599 Neighboring gene regulator of microtubule dynamics 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6340 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:41046843-41047057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9261 Neighboring gene uncharacterized LOC124903474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41055946-41056811 Neighboring gene SUMO2 pseudogene 15 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41057589-41058378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41060839-41061457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41062076-41062694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41062695-41063311 Neighboring gene DnaJ heat shock protein family (Hsp40) member C17 Neighboring gene chromosome 15 open reading frame 62 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:41084513-41085712 Neighboring gene Sharpr-MPRA regulatory region 2594 Neighboring gene NANOG hESC enhancer GRCh37_chr15:41091921-41092462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9266 Neighboring gene zinc finger FYVE-type containing 19

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC138467, MGC138469

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP cyclohydrolase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of nitric oxide biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
GTP cyclohydrolase 1 feedback regulatory protein
Names
GTP cyclohydrolase I feedback regulatory protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005258.3NP_005249.1  GTP cyclohydrolase 1 feedback regulatory protein

    See identical proteins and their annotated locations for NP_005249.1

    Status: REVIEWED

    Source sequence(s)
    AC012476
    Consensus CDS
    CCDS10064.1
    UniProtKB/Swiss-Prot
    B2R4L6, B7ZLM8, P30047, Q2M1Q2, Q99749
    UniProtKB/TrEMBL
    Q53F59
    Related
    ENSP00000260447.4, ENST00000260447.6
    Conserved Domains (1) summary
    pfam06399
    Location:383
    GFRP; GTP cyclohydrolase I feedback regulatory protein (GFRP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    40764068..40767708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    38570090..38573730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)