Details for: GCHFR

Gene ID: 2644

Symbol: GCHFR

Ensembl ID: ENSG00000137880

Description: GTP cyclohydrolase I feedback regulator

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 3.06
    Marker Score: 18609
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.85
    Marker Score: 72885
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 2.33
    Marker Score: 2280
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.28
    Marker Score: 3512
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.23
    Marker Score: 6618
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.22
    Marker Score: 76989.5
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.98
    Marker Score: 7343
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 1.98
    Marker Score: 1203.5
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.96
    Marker Score: 9412
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.88
    Marker Score: 6662.5
  • Cell Name: centroblast (CL0009112)
    Fold Change: 1.87
    Marker Score: 921
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.8
    Marker Score: 13432
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.78
    Marker Score: 515
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.75
    Marker Score: 6859
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.69
    Marker Score: 2709
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.59
    Marker Score: 2908
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.54
    Marker Score: 3647.5
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.53
    Marker Score: 9945
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.51
    Marker Score: 2135
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.38
    Marker Score: 13705
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.36
    Marker Score: 11741
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.35
    Marker Score: 667
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 1.34
    Marker Score: 386
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.33
    Marker Score: 4180
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.31
    Marker Score: 547
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.26
    Marker Score: 856
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.25
    Marker Score: 470
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.24
    Marker Score: 10759
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.21
    Marker Score: 307
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.17
    Marker Score: 784
  • Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
    Fold Change: 1.17
    Marker Score: 386
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.17
    Marker Score: 4770
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.16
    Marker Score: 7427
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.15
    Marker Score: 2402
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.15
    Marker Score: 1025
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.09
    Marker Score: 1269
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 1.08
    Marker Score: 470
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.06
    Marker Score: 493
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251652
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.04
    Marker Score: 693
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.03
    Marker Score: 238
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.03
    Marker Score: 704
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.03
    Marker Score: 2175.5
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.03
    Marker Score: 11927
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.01
    Marker Score: 1072
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.01
    Marker Score: 2508.5
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 1
    Marker Score: 239
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1
    Marker Score: 1597
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1
    Marker Score: 5277
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71675
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47899
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.98
    Marker Score: 542
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30394
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.95
    Marker Score: 997
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.95
    Marker Score: 987.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2398
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.94
    Marker Score: 1561
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 0.94
    Marker Score: 836
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.93
    Marker Score: 1585
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.93
    Marker Score: 678
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.93
    Marker Score: 7241
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.92
    Marker Score: 1748
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5233
  • Cell Name: ILC1, human (CL0001077)
    Fold Change: 0.92
    Marker Score: 232
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2727
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 0.91
    Marker Score: 1626
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.91
    Marker Score: 1019
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 0.9
    Marker Score: 736
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.9
    Marker Score: 1458
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.88
    Marker Score: 11867
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 311
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.86
    Marker Score: 406
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.85
    Marker Score: 439
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.84
    Marker Score: 2293
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.84
    Marker Score: 609
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.84
    Marker Score: 418
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 0.84
    Marker Score: 259
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.83
    Marker Score: 310
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.83
    Marker Score: 1222
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.82
    Marker Score: 225
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.82
    Marker Score: 181
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.82
    Marker Score: 2805
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.81
    Marker Score: 826
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: 0.81
    Marker Score: 898
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.81
    Marker Score: 476
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.81
    Marker Score: 336
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.81
    Marker Score: 877
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8
    Marker Score: 801
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.8
    Marker Score: 420
  • Cell Name: tracheobronchial serous cell (CL0019001)
    Fold Change: 0.8
    Marker Score: 291
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 318
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.79
    Marker Score: 191
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 0.79
    Marker Score: 736
  • Cell Name: basophil (CL0000767)
    Fold Change: 0.79
    Marker Score: 373
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.78
    Marker Score: 190
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.78
    Marker Score: 812
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.78
    Marker Score: 2183

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Other Information

**Key characteristics:** - GCHFR gene is located on chromosome 17q21.1. - It is a single-exon gene encoding a protein of 343 amino acids. - The protein is highly homologous to other GTP cyclohydrolase I proteins in other species. - It is a negative regulator of BH4 production. **Pathways and functions:** - GCHFR protein negatively regulates the expression of the BH4 biosynthesis gene (BPH1). - It achieves this by binding to the BPH1 promoter and blocking its activity. - By reducing BH4 production, GCHFR helps maintain cellular levels of BH4 and prevents the inhibition of enzymes that require BH4 as a cofactor. **Clinical significance:** - Mutations in the GCHFR gene have been linked to several human diseases, including Niemann-Pick disease, which is characterized by a deficiency in BH4. - GCHFR inhibitors are being investigated as potential therapeutic agents for treating these diseases by increasing BH4 levels and improving disease symptoms. **Additional points:** - GCHFR is a key regulator of energy metabolism, as it is involved in the regulation of the synthesis and degradation of cofactors involved in the citric acid cycle. - It is also involved in the regulation of nitric oxide production, as it regulates the expression of genes involved in nitric oxide synthesis and degradation.

Genular Protein ID: 452536174

Symbol: GFRP_HUMAN

Name: GTP cyclohydrolase 1 feedback regulatory protein

UniProtKB Accession Codes:

P30047 B2R4L6 B7ZLM8 Q2M1Q2 Q99749

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EMDB 2 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 8 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SWISS-2DPAGE 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1286669

Title: Human liver protein map: a reference database established by microsequencing and gel comparison.

PubMed ID: 1286669

DOI: 10.1002/elps.11501301201

PubMed ID: 16778797

Title: GTP cyclohydrolase feedback regulatory protein controls cofactor 6-tetrahydrobiopterin synthesis in the cytosol and in the nucleus of epidermal keratinocytes and melanocytes.

PubMed ID: 16778797

DOI: 10.1038/sj.jid.5700425

PubMed ID: 16696853

Title: A yeast 2-hybrid analysis of human GTP cyclohydrolase I protein interactions.

PubMed ID: 16696853

DOI: 10.1111/j.1471-4159.2006.03836.x

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 84
  • Mass: 9698
  • Checksum: 4A20FDBC6E3EE7AC
  • Sequence:
    • MPYLLISTQI RMEVGPTMVG DEQSDPELMQ HLGASKRRAL GNNFYEYYVD DPPRIVLDKL 
ERRGFRVLSM TGVGQTLVWC LHKE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.