GCHFR (GTP cyclohydrolase I feedback regulator)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2644
Gene name GTP cyclohydrolase I feedback regulator
Gene symbol GCHFR
Synonyms (NCBI Gene)
GFRPHsT16933P35
Chromosome 15
Chromosome location 15q15.1
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
miRNA miRNA information provided by mirtarbase database.
22
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
miRTarBase ID miRNA Experiments Reference
MIRT048942 hsa-miR-92a-3p CLASH 23622248
MIRT2233947 hsa-miR-2276 CLIP-seq
MIRT2233948 hsa-miR-3127-5p CLIP-seq
MIRT2233949 hsa-miR-342-5p CLIP-seq
MIRT2233950 hsa-miR-3689d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0004857 Function Enzyme inhibitor activity IEA
GO:0005515 Function Protein binding IPI 9092499, 16696853
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 16778797
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602437 4194 ENSG00000137880
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30047
Protein name GTP cyclohydrolase 1 feedback regulatory protein (GFRP) (GTP cyclohydrolase I feedback regulatory protein) (p35)
Protein function Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine.
PDB 6Z80 , 6Z85 , 7ACC , 7AL9 , 7ALA , 7ALB , 7ALC , 7ALQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06399 GFRP 2 → 84 GTP cyclohydrolase I feedback regulatory protein (GFRP) Domain
Tissue specificity TISSUE SPECIFICITY: In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). {ECO:0000269|PubMed:16778797}.
Sequence
Sequence length 84
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (57)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease, Early Onset Alzheimer disease BEFREE 15917097
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 28912154
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 21825040
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 11228158
★★★★★
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome BEFREE 18205865
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 22696682
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 20603238
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 17493033, 30158515
★★★★★
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognitive disorder BEFREE 21544067
★★★★★
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Common variable immunodeficiency Pubtator 36220400 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only