Details for: GCHFR

Gene ID: 2644

Symbol: GCHFR

Ensembl ID: ENSG00000137880

Description: GTP cyclohydrolase I feedback regulator

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 124.3368
    Cell Significance Index: -19.3400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 61.3460
    Cell Significance Index: -15.5600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 52.9221
    Cell Significance Index: -21.5000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 46.9370
    Cell Significance Index: -22.1600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 45.4912
    Cell Significance Index: -23.4000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 33.0391
    Cell Significance Index: -22.1700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.7443
    Cell Significance Index: -20.6500
  • Cell Name: centroblast (CL0009112)
    Fold Change: 7.0380
    Cell Significance Index: 16.4200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.5194
    Cell Significance Index: -21.7800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.3395
    Cell Significance Index: -16.4000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.2672
    Cell Significance Index: -14.1100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.6586
    Cell Significance Index: 313.5300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 2.1721
    Cell Significance Index: 17.3400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.9417
    Cell Significance Index: 1060.4000
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.7714
    Cell Significance Index: 14.6500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.1138
    Cell Significance Index: 32.7100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.0938
    Cell Significance Index: 75.6400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9579
    Cell Significance Index: 104.1900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.9380
    Cell Significance Index: 120.2500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.6809
    Cell Significance Index: 15.7300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5418
    Cell Significance Index: 107.5300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.4965
    Cell Significance Index: 7.4400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4488
    Cell Significance Index: 55.1900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3946
    Cell Significance Index: 18.4000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3940
    Cell Significance Index: 17.8600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3735
    Cell Significance Index: 67.3300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3730
    Cell Significance Index: 22.3900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.3600
    Cell Significance Index: 11.5300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3572
    Cell Significance Index: 67.9800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3139
    Cell Significance Index: 283.4100
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.2863
    Cell Significance Index: 4.4300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2816
    Cell Significance Index: 9.7900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2515
    Cell Significance Index: 111.2100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2170
    Cell Significance Index: 21.4700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1962
    Cell Significance Index: 9.2200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1848
    Cell Significance Index: 9.6000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.1131
    Cell Significance Index: 85.6000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0798
    Cell Significance Index: 1.6700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0554
    Cell Significance Index: 7.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0268
    Cell Significance Index: 0.9400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0114
    Cell Significance Index: 0.1300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0113
    Cell Significance Index: 0.2400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0093
    Cell Significance Index: 0.7000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0041
    Cell Significance Index: -0.1100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0061
    Cell Significance Index: -4.5000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0074
    Cell Significance Index: -1.4900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0086
    Cell Significance Index: -16.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0091
    Cell Significance Index: -0.9300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0124
    Cell Significance Index: -22.8800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0130
    Cell Significance Index: -1.7900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0139
    Cell Significance Index: -21.3700
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0157
    Cell Significance Index: -0.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0183
    Cell Significance Index: -24.8900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0201
    Cell Significance Index: -12.7900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0215
    Cell Significance Index: -15.9000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0301
    Cell Significance Index: -8.6700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0317
    Cell Significance Index: -17.8700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0399
    Cell Significance Index: -14.3200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0448
    Cell Significance Index: -27.9600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0449
    Cell Significance Index: -0.8300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0510
    Cell Significance Index: -23.1500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0553
    Cell Significance Index: -6.4400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0564
    Cell Significance Index: -1.4400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0583
    Cell Significance Index: -9.9500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0655
    Cell Significance Index: -3.4400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0659
    Cell Significance Index: -4.1500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0747
    Cell Significance Index: -8.5600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0819
    Cell Significance Index: -1.3700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0877
    Cell Significance Index: -6.2000
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.0950
    Cell Significance Index: -0.9800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1107
    Cell Significance Index: -23.3200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1151
    Cell Significance Index: -1.5700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1368
    Cell Significance Index: -19.8800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1758
    Cell Significance Index: -8.8800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1796
    Cell Significance Index: -11.5900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1895
    Cell Significance Index: -4.1100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1910
    Cell Significance Index: -5.2000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1938
    Cell Significance Index: -2.3100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1952
    Cell Significance Index: -15.4600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1955
    Cell Significance Index: -8.0100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1968
    Cell Significance Index: -5.5000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2080
    Cell Significance Index: -21.6600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2307
    Cell Significance Index: -3.4100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2634
    Cell Significance Index: -6.7700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2995
    Cell Significance Index: -22.9800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3019
    Cell Significance Index: -18.5100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3122
    Cell Significance Index: -20.9900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3204
    Cell Significance Index: -8.5700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3260
    Cell Significance Index: -8.1500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.3306
    Cell Significance Index: -5.7000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3368
    Cell Significance Index: -20.7000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3376
    Cell Significance Index: -3.5000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3411
    Cell Significance Index: -8.9700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3564
    Cell Significance Index: -20.0000
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.3635
    Cell Significance Index: -2.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.3851
    Cell Significance Index: -11.1000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4082
    Cell Significance Index: -21.2600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.4401
    Cell Significance Index: -6.9800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4420
    Cell Significance Index: -13.0200
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.4609
    Cell Significance Index: -4.6500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** GCHFR is a protein that binds to GTP cyclohydrolase I, an enzyme involved in the synthesis of BH4, a cofactor required for NOS enzyme activity. The GCHFR protein acts as a negative regulator of the BH4 synthesis pathway, thereby modulating the activity of NOS enzymes. This regulatory mechanism is critical for maintaining immune homeostasis and preventing excessive NOS enzyme activity, which can lead to oxidative stress and tissue damage. **Pathways and Functions:** GCHFR is involved in several key pathways, including: 1. **BH4 synthesis**: GCHFR regulates the synthesis of BH4, a cofactor required for NOS enzyme activity. BH4 is essential for the production of nitric oxide (NO), a key molecule involved in immune responses and vascular function. 2. **Nitric oxide biosynthetic process**: GCHFR modulates the activity of NOS enzymes, which are responsible for NO production. This regulatory mechanism is critical for maintaining immune homeostasis and preventing excessive NO production, which can lead to oxidative stress and tissue damage. 3. **Metabolism of cofactors**: GCHFR is involved in the regulation of the BH4 synthesis pathway, which is essential for maintaining the proper functioning of NOS enzymes. 4. **Regulation of nitric oxide biosynthetic process**: GCHFR modulates the activity of NOS enzymes, which are responsible for NO production. This regulatory mechanism is critical for maintaining immune homeostasis and preventing excessive NO production, which can lead to oxidative stress and tissue damage. **Significantly Expressed Cells:** GCHFR is significantly expressed in various cell types, including: 1. **Elicited macrophage**: GCHFR is expressed in elicited macrophages, which are involved in immune responses and the production of NO. 2. **Alveolar macrophage**: GCHFR is expressed in alveolar macrophages, which are involved in the regulation of immune responses in the lungs. 3. **Pancreatic A cell**: GCHFR is expressed in pancreatic A cells, which are involved in glucose regulation and insulin production. 4. **Enterocyte of colon**: GCHFR is expressed in enterocytes of the colon, which are involved in the regulation of immune responses and the maintenance of gut homeostasis. **Clinical Significance:** GCHFR is involved in several clinical conditions, including: 1. **Immunodeficiency disorders**: GCHFR mutations have been associated with immunodeficiency disorders, including severe combined immunodeficiency (SCID) and chronic granulomatous disease (CGD). 2. **Malignancies**: GCHFR mutations have been associated with an increased risk of malignancies, including leukemia and lymphoma. 3. **Metabolic disorders**: GCHFR is involved in the regulation of BH4 synthesis, which is essential for maintaining proper NOS enzyme activity. Mutations in GCHFR have been associated with metabolic disorders, including hypertension and cardiovascular disease. In conclusion, GCHFR is a gene that plays a critical role in the regulation of immune responses and metabolic homeostasis. Its dysregulation has been associated with several clinical conditions, including immunodeficiency disorders, malignancies, and metabolic disorders. Further research is needed to fully understand the complex mechanisms by which GCHFR regulates immune responses and metabolic homeostasis.

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 Ensembl 2 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 8 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 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.