Details for: FGFR1

Gene ID: 2260

Symbol: FGFR1

Ensembl ID: ENSG00000077782

Description: fibroblast growth factor receptor 1

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: 328.3932
    Cell Significance Index: -51.0800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 200.4783
    Cell Significance Index: -50.8500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 112.3687
    Cell Significance Index: -46.2900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 109.2513
    Cell Significance Index: -51.5800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 100.2075
    Cell Significance Index: -40.7100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 41.5100
    Cell Significance Index: -51.1800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 15.9829
    Cell Significance Index: -34.9800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.9801
    Cell Significance Index: -51.2200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.8418
    Cell Significance Index: -33.3000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 5.8774
    Cell Significance Index: 168.4800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 3.9217
    Cell Significance Index: 76.5400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.7972
    Cell Significance Index: 58.5500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 2.2966
    Cell Significance Index: 294.4100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.6200
    Cell Significance Index: 51.8900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.3835
    Cell Significance Index: 2604.9100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.3497
    Cell Significance Index: 857.2100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.2979
    Cell Significance Index: 45.1000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2933
    Cell Significance Index: 99.2500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.1114
    Cell Significance Index: 7.5300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.9305
    Cell Significance Index: 69.3500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.9165
    Cell Significance Index: 19.5900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8323
    Cell Significance Index: 165.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.8014
    Cell Significance Index: 136.8500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.7968
    Cell Significance Index: 40.2700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6362
    Cell Significance Index: 281.2700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.5417
    Cell Significance Index: 30.4000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.5399
    Cell Significance Index: 7.7700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5187
    Cell Significance Index: 71.2300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4264
    Cell Significance Index: 294.9400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3971
    Cell Significance Index: 142.4400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3940
    Cell Significance Index: 215.1500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3575
    Cell Significance Index: 16.8000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.3029
    Cell Significance Index: 4.3500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2993
    Cell Significance Index: 38.6700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.2143
    Cell Significance Index: 2.7500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1922
    Cell Significance Index: 173.5500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1503
    Cell Significance Index: 14.8700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1155
    Cell Significance Index: 21.9800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1024
    Cell Significance Index: 46.4600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0812
    Cell Significance Index: 9.2700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0659
    Cell Significance Index: 101.4800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0567
    Cell Significance Index: 11.3800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.0381
    Cell Significance Index: 0.2300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0284
    Cell Significance Index: 0.4800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0280
    Cell Significance Index: 3.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0238
    Cell Significance Index: 43.8300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0145
    Cell Significance Index: 2.3700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0110
    Cell Significance Index: 0.2900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0166
    Cell Significance Index: -12.2800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0177
    Cell Significance Index: -1.8400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0253
    Cell Significance Index: -34.4200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0411
    Cell Significance Index: -25.6900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0482
    Cell Significance Index: -35.3300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0485
    Cell Significance Index: -36.7100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0512
    Cell Significance Index: -1.8000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0646
    Cell Significance Index: -36.4100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1007
    Cell Significance Index: -21.2000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1103
    Cell Significance Index: -1.8900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1192
    Cell Significance Index: -17.3200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.1304
    Cell Significance Index: -14.1900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1319
    Cell Significance Index: -3.8000
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.1378
    Cell Significance Index: -0.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1391
    Cell Significance Index: -14.2100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1454
    Cell Significance Index: -41.8300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1540
    Cell Significance Index: -27.7600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1585
    Cell Significance Index: -2.3400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1676
    Cell Significance Index: -19.7600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1992
    Cell Significance Index: -3.1600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2079
    Cell Significance Index: -2.2600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2583
    Cell Significance Index: -11.7100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2596
    Cell Significance Index: -31.9200
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2698
    Cell Significance Index: -2.2000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2751
    Cell Significance Index: -31.5200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2972
    Cell Significance Index: -15.4800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.3322
    Cell Significance Index: -5.1400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4134
    Cell Significance Index: -29.2400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.4183
    Cell Significance Index: -25.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4285
    Cell Significance Index: -26.3400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.4302
    Cell Significance Index: -29.7500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4314
    Cell Significance Index: -29.0100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4388
    Cell Significance Index: -10.9700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4766
    Cell Significance Index: -13.6000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5084
    Cell Significance Index: -31.1700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5741
    Cell Significance Index: -45.4700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.6778
    Cell Significance Index: -43.7300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.6809
    Cell Significance Index: -18.1800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.7017
    Cell Significance Index: -19.1000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.7093
    Cell Significance Index: -19.0100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.7266
    Cell Significance Index: -38.1500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.7418
    Cell Significance Index: -20.7300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.7543
    Cell Significance Index: -13.3300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.7584
    Cell Significance Index: -16.4300
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.8512
    Cell Significance Index: -12.9500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.8874
    Cell Significance Index: -55.9300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.8920
    Cell Significance Index: -12.1700
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.8994
    Cell Significance Index: -9.3900
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.9183
    Cell Significance Index: -4.2400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.9810
    Cell Significance Index: -50.9600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.0613
    Cell Significance Index: -24.5200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.0702
    Cell Significance Index: -27.5100

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** FGFR1 is a transmembrane receptor tyrosine kinase with four immunoglobulin-like domains and a fibronectin type III domain. It is activated by binding to FGFs, which causes dimerization and autophosphorylation of the receptor. This leads to the recruitment of downstream signaling molecules, including phospholipase C, and the activation of various kinases, including PI3K and MAPK. FGFR1 is highly expressed in embryonic tissues, including the nervous system, auditory system, and skeletal system, and is also present in adult tissues, such as fibroblasts and myoepithelial cells. **Pathways and Functions** FGFR1 signaling pathways are involved in various cellular processes, including: 1. **Cell proliferation and migration**: FGFR1 signaling regulates cell growth, differentiation, and migration in embryonic development and tissue morphogenesis. 2. **Embryonic development**: FGFR1 is involved in the development of the nervous system, auditory system, and skeletal system. 3. **Tissue morphogenesis**: FGFR1 signaling regulates the formation of paraxial mesoderm and the development of the ventral and dorsal neural tube. 4. **Cancer development**: Mutations in FGFR1 have been implicated in several cancers, including osteosarcoma, chondrosarcoma, and adenoid cystic carcinoma. 5. **Neurological disorders**: FGFR1 signaling has been implicated in neurological disorders, such as autism, schizophrenia, and bipolar disorder. **Clinical Significance** Mutations in the FGFR1 gene have been identified in several cancers, including: 1. **Osteosarcoma**: FGFR1 amplification is a common feature of osteosarcoma, a type of bone cancer. 2. **Chondrosarcoma**: FGFR1 mutations have been identified in chondrosarcoma, a type of cartilage cancer. 3. **Adenoid cystic carcinoma**: FGFR1 amplification is a common feature of adenoid cystic carcinoma, a type of salivary gland cancer. 4. **Neurological disorders**: FGFR1 signaling has been implicated in neurological disorders, such as autism, schizophrenia, and bipolar disorder. In addition to its role in cancer development, FGFR1 signaling has also been implicated in various other diseases, including: 1. **Fibrosis**: FGFR1 signaling has been implicated in fibrosis, a condition characterized by the excessive accumulation of extracellular matrix proteins. 2. **Atherosclerosis**: FGFR1 signaling has been implicated in atherosclerosis, a condition characterized by the buildup of plaque in the arteries. 3. **Neurodegenerative diseases**: FGFR1 signaling has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. Overall, the FGFR1 gene plays a crucial role in various cellular processes, including cell proliferation, migration, and differentiation, and its dysregulation has been implicated in several diseases, including cancer, neurological disorders, and fibrosis.

Genular Protein ID: 3053337526

Symbol: FGFR1_HUMAN

Name: Fibroblast growth factor receptor 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2162671

Title: The complete amino acid sequence of the shorter form of human basic fibroblast growth factor receptor deduced from its cDNA.

PubMed ID: 2162671

DOI: 10.1016/0006-291x(90)90384-y

PubMed ID: 1697263

Title: Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors.

PubMed ID: 1697263

DOI: 10.1002/j.1460-2075.1990.tb07454.x

PubMed ID: 2167437

Title: Diverse forms of a receptor for acidic and basic fibroblast growth factors.

PubMed ID: 2167437

DOI: 10.1128/mcb.10.9.4728-4736.1990

PubMed ID: 2159626

Title: Complete sequence of a human receptor for acidic and basic fibroblast growth factors.

PubMed ID: 2159626

DOI: 10.1093/nar/18.7.1906

PubMed ID: 1722683

Title: cDNA cloning and expression of a human FGF receptor which binds acidic and basic FGF.

PubMed ID: 1722683

DOI: 10.3109/08977199109104816

PubMed ID: 1662973

Title: Molecular cloning of a human basic fibroblast growth factor receptor cDNA and expression of a biologically active extracellular domain in a baculovirus system.

PubMed ID: 1662973

DOI: 10.3109/08977199109000276

PubMed ID: 1650441

Title: Alternative splicing generates at least five different isoforms of the human basic-FGF receptor.

PubMed ID: 1650441

PubMed ID: 1846977

Title: Fibroblast growth factor receptors from liver vary in three structural domains.

PubMed ID: 1846977

DOI: 10.1126/science.1846977

PubMed ID: 1317750

Title: K-sam-related gene, N-sam, encodes fibroblast growth factor receptor and is expressed in T-lymphocytic tumors.

PubMed ID: 1317750

PubMed ID: 20139426

Title: A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.

PubMed ID: 20139426

DOI: 10.1093/humrep/deq006

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 7520751

Title: Multivalent ligand-receptor binding interactions in the fibroblast growth factor system produce a cooperative growth factor and heparin mechanism for receptor dimerization.

PubMed ID: 7520751

DOI: 10.1021/bi00200a003

PubMed ID: 8074689

Title: Distinct role of 2-O-, N-, and 6-O-sulfate groups of heparin in the formation of the ternary complex with basic fibroblast growth factor and soluble FGF receptor-1.

PubMed ID: 8074689

DOI: 10.1006/bbrc.1994.2203

PubMed ID: 1652059

Title: The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain.

PubMed ID: 1652059

DOI: 10.1128/mcb.11.9.4627-4634.1991

PubMed ID: 1847500

Title: A novel c-fgr exon utilized in Epstein-Barr virus-infected B lymphocytes but not in normal monocytes.

PubMed ID: 1847500

DOI: 10.1128/mcb.11.3.1500-1507.1991

PubMed ID: 1656221

Title: A tyrosine-phosphorylated carboxy-terminal peptide of the fibroblast growth factor receptor (Flg) is a binding site for the SH2 domain of phospholipase C-gamma 1.

PubMed ID: 1656221

DOI: 10.1128/mcb.11.10.5068-5078.1991

PubMed ID: 1379697

Title: Point mutation of an FGF receptor abolishes phosphatidylinositol turnover and Ca2+ flux but not mitogenesis.

PubMed ID: 1379697

DOI: 10.1038/358678a0

PubMed ID: 1379698

Title: Point mutation in FGF receptor eliminates phosphatidylinositol hydrolysis without affecting mitogenesis.

PubMed ID: 1379698

DOI: 10.1038/358681a0

PubMed ID: 7516330

Title: Internalization of fibroblast growth factor receptor is inhibited by a point mutation at tyrosine 766.

PubMed ID: 7516330

DOI: 10.1016/s0021-9258(17)32519-x

PubMed ID: 8622701

Title: Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction.

PubMed ID: 8622701

DOI: 10.1128/mcb.16.3.977

PubMed ID: 8663044

Title: Receptor specificity of the fibroblast growth factor family.

PubMed ID: 8663044

DOI: 10.1074/jbc.271.25.15292

PubMed ID: 9716603

Title: Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome.

PubMed ID: 9716603

PubMed ID: 9655399

Title: Structure of a heparin-linked biologically active dimer of fibroblast growth factor.

PubMed ID: 9655399

DOI: 10.1038/31741

PubMed ID: 9949182

Title: The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1.

PubMed ID: 9949182

PubMed ID: 10454568

Title: Grb10, a positive, stimulatory signaling adapter in platelet-derived growth factor BB-, insulin-like growth factor I-, and insulin-mediated mitogenesis.

PubMed ID: 10454568

DOI: 10.1128/mcb.19.9.6217

PubMed ID: 10861678

Title: Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

PubMed ID: 10861678

DOI: 10.1002/1096-8628(20000703)93:1<22::aid-ajmg5>3.0.co;2-u

PubMed ID: 10688839

Title: FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33).

PubMed ID: 10688839

PubMed ID: 11353842

Title: Stimulation of phosphatidylinositol 3-kinase by fibroblast growth factor receptors is mediated by coordinated recruitment of multiple docking proteins.

PubMed ID: 11353842

DOI: 10.1073/pnas.111114298

PubMed ID: 12181353

Title: The Shb adaptor protein binds to tyrosine 766 in the FGFR-1 and regulates the Ras/MEK/MAPK pathway via FRS2 phosphorylation in endothelial cells.

PubMed ID: 12181353

DOI: 10.1091/mbc.e02-02-0103

PubMed ID: 15034873

Title: Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome.

PubMed ID: 15034873

DOI: 10.1002/gcc.20023

PubMed ID: 15117958

Title: 90-kDa ribosomal S6 kinase is a direct target for the nuclear fibroblast growth factor receptor 1 (FGFR1): role in FGFR1 signaling.

PubMed ID: 15117958

DOI: 10.1074/jbc.m311144200

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 16946300

Title: Phosphotyrosine profiling identifies the KG-1 cell line as a model for the study of FGFR1 fusions in acute myeloid leukemia.

PubMed ID: 16946300

DOI: 10.1182/blood-2006-06-026666

PubMed ID: 16597617

Title: Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family.

PubMed ID: 16597617

DOI: 10.1074/jbc.m601252200

PubMed ID: 16481405

Title: Factors controlling fibroblast growth factor receptor-1's cytoplasmic trafficking and its regulation as revealed by FRAP analysis.

PubMed ID: 16481405

DOI: 10.1091/mbc.e05-08-0749

PubMed ID: 16507368

Title: Autophosphorylation of FGFR1 kinase is mediated by a sequential and precisely ordered reaction.

PubMed ID: 16507368

DOI: 10.1016/j.molcel.2006.01.022

PubMed ID: 17389761

Title: 14-3-3 integrates pro-survival signals mediated by the AKT and MAPK pathways in ZNF198-FGFR1 transformed hematopoietic cells.

PubMed ID: 17389761

DOI: 10.1182/blood-2006-12-065615

PubMed ID: 17623664

Title: Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21.

PubMed ID: 17623664

DOI: 10.1074/jbc.m704165200

PubMed ID: 17311277

Title: Fibroblast growth factor receptor-induced phosphorylation of STAT1 at the Golgi apparatus without translocation to the nucleus.

PubMed ID: 17311277

DOI: 10.1002/jcp.21014

PubMed ID: 18441324

Title: Direct binding of integrin alphavbeta3 to FGF1 plays a role in FGF1 signaling.

PubMed ID: 18441324

DOI: 10.1074/jbc.m801213200

PubMed ID: 18480409

Title: Ubiquitination of fibroblast growth factor receptor 1 is required for its intracellular sorting but not for its endocytosis.

PubMed ID: 18480409

DOI: 10.1091/mbc.e07-12-1219

PubMed ID: 19696444

Title: Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.

PubMed ID: 19696444

DOI: 10.1074/jbc.m109.049155

PubMed ID: 19261810

Title: Fibroblast growth factor receptor-1 (FGFR1) nuclear dynamics reveal a novel mechanism in transcription control.

PubMed ID: 19261810

DOI: 10.1091/mbc.e08-06-0600

PubMed ID: 19224897

Title: The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations.

PubMed ID: 19224897

DOI: 10.1126/scisignal.2000021

PubMed ID: 20422052

Title: A novel fibroblast growth factor-1 (FGF1) mutant that acts as an FGF antagonist.

PubMed ID: 20422052

DOI: 10.1371/journal.pone.0010273

PubMed ID: 19966287

Title: Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation.

PubMed ID: 19966287

DOI: 10.1073/pnas.0902006107

PubMed ID: 21765395

Title: Nedd4-1 binds and ubiquitylates activated FGFR1 to control its endocytosis and function.

PubMed ID: 21765395

DOI: 10.1038/emboj.2011.234

PubMed ID: 12141425

Title: The structure and function of vertebrate fibroblast growth factor receptor 1.

PubMed ID: 12141425

PubMed ID: 15863030

Title: Cellular signaling by fibroblast growth factor receptors.

PubMed ID: 15863030

DOI: 10.1016/j.cytogfr.2005.01.001

PubMed ID: 20094046

Title: Fibroblast growth factor signalling: from development to cancer.

PubMed ID: 20094046

DOI: 10.1038/nrc2780

PubMed ID: 20117945

Title: Novel insights in FGFR1 regulation: lessons from Kallmann syndrome.

PubMed ID: 20117945

DOI: 10.1016/j.tem.2010.01.004

PubMed ID: 26942290

Title: Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis.

PubMed ID: 26942290

DOI: 10.1016/j.ajhg.2016.02.006

PubMed ID: 8752212

Title: Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism.

PubMed ID: 8752212

DOI: 10.1016/s0092-8674(00)80131-2

PubMed ID: 9139660

Title: Structures of the tyrosine kinase domain of fibroblast growth factor receptor in complex with inhibitors.

PubMed ID: 9139660

DOI: 10.1126/science.276.5314.955

PubMed ID: 10830168

Title: Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.

PubMed ID: 10830168

DOI: 10.1016/s0092-8674(00)80851-x

PubMed ID: 11030354

Title: Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization.

PubMed ID: 11030354

DOI: 10.1016/s1097-2765(00)00073-3

PubMed ID: 19665973

Title: The selectivity of receptor tyrosine kinase signaling is controlled by a secondary SH2 domain binding site.

PubMed ID: 19665973

DOI: 10.1016/j.cell.2009.05.028

PubMed ID: 20133753

Title: Asymmetric receptor contact is required for tyrosine autophosphorylation of fibroblast growth factor receptor in living cells.

PubMed ID: 20133753

DOI: 10.1073/pnas.0914157107

PubMed ID: 21454610

Title: A novel mode of protein kinase inhibition exploiting hydrophobic motifs of autoinhibited kinases: discovery of ATP-independent inhibitors of fibroblast growth factor receptor.

PubMed ID: 21454610

DOI: 10.1074/jbc.m110.213736

PubMed ID: 7874169

Title: A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

PubMed ID: 7874169

DOI: 10.1038/ng1194-269

PubMed ID: 11173846

Title: An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.

PubMed ID: 11173846

DOI: 10.1159/000056834

PubMed ID: 12627230

Title: Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

PubMed ID: 12627230

DOI: 10.1038/ng1122

PubMed ID: 15001591

Title: Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

PubMed ID: 15001591

DOI: 10.1210/jc.2003-030476

PubMed ID: 15625620

Title: Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

PubMed ID: 15625620

DOI: 10.1086/427956

PubMed ID: 15605412

Title: Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

PubMed ID: 15605412

DOI: 10.1002/humu.9298

PubMed ID: 15845591

Title: Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.

PubMed ID: 15845591

DOI: 10.1093/humrep/dei052

PubMed ID: 16470795

Title: Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.

PubMed ID: 16470795

DOI: 10.1002/ajmg.a.31106

PubMed ID: 16882753

Title: Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.

PubMed ID: 16882753

DOI: 10.1210/jc.2005-2793

PubMed ID: 16764984

Title: Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.

PubMed ID: 16764984

DOI: 10.1016/j.mce.2006.04.021

PubMed ID: 16757108

Title: Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).

PubMed ID: 16757108

DOI: 10.1016/j.mce.2006.04.006

PubMed ID: 16606836

Title: Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

PubMed ID: 16606836

DOI: 10.1073/pnas.0600962103

PubMed ID: 17154279

Title: Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.

PubMed ID: 17154279

DOI: 10.1002/humu.9470

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 19820032

Title: Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.

PubMed ID: 19820032

DOI: 10.1210/jc.2009-0179

PubMed ID: 21700882

Title: Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.

PubMed ID: 21700882

DOI: 10.1073/pnas.1102284108

PubMed ID: 22927827

Title: SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

PubMed ID: 22927827

DOI: 10.1371/journal.pgen.1002896

PubMed ID: 23643382

Title: Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

PubMed ID: 23643382

DOI: 10.1016/j.ajhg.2013.04.008

PubMed ID: 23812909

Title: FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

PubMed ID: 23812909

DOI: 10.1136/jmedgenet-2013-101603

PubMed ID: 23041776

Title: A translocation t(2;8)(q12;p11) fuses FGFR1 to a novel partner gene, RANBP2/NUP358, in a myeloproliferative/myelodysplastic neoplasm.

PubMed ID: 23041776

DOI: 10.1038/leu.2012.286

PubMed ID: 24888332

Title: Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism.

PubMed ID: 24888332

DOI: 10.1002/ajmg.a.36621

PubMed ID: 25077900

Title: The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

PubMed ID: 25077900

DOI: 10.1210/jc.2014-2110

PubMed ID: 26277103

Title: Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

PubMed ID: 26277103

DOI: 10.1016/j.fertnstert.2015.07.1142

Sequence Information:

  • Length: 822
  • Mass: 91868
  • Checksum: 93A01B5D78C3E72C
  • Sequence:
  • MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD 
    VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD 
    ALPSSEDDDD DDDSSSEEKE TDNTKPNRMP VAPYWTSPEK MEKKLHAVPA AKTVKFKCPS 
    SGTPNPTLRW LKNGKEFKPD HRIGGYKVRY ATWSIIMDSV VPSDKGNYTC IVENEYGSIN 
    HTYQLDVVER SPHRPILQAG LPANKTVALG SNVEFMCKVY SDPQPHIQWL KHIEVNGSKI 
    GPDNLPYVQI LKTAGVNTTD KEMEVLHLRN VSFEDAGEYT CLAGNSIGLS HHSAWLTVLE 
    ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK SGTKKSDFHS QMAVHKLAKS 
    IPLRRQVTVS ADSSASMNSG VLLVRPSRLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL 
    GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK 
    HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL 
    VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG 
    RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD 
    KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQEYLDLS MPLDQYSPSF 
    PDTRSSTCSS GEDSVFSHEP LPEEPCLPRH PAQLANGGLK RR

Genular Protein ID: 3105612417

Symbol: A0A0S2Z3Q6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 820
  • Mass: 91668
  • Checksum: 16B07518ECFC98F5
  • Sequence:
  • MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD 
    VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD 
    ALPSSEDDDD DDDSSSEEKE TDNTKPNRMP VAPYWTSPEK MEKKLHAVPA AKTVKFKCPS 
    SGTPNPTLRW LKNGKEFKPD HRIGGYKVRY ATWSIIMDSV VPSDKGNYTC IVENEYGSIN 
    HTYQLDVVER SPHRPILQAG LPANKTVALG SNVEFMCKVY SDPQPHIQWL KHIEVNGSKI 
    GPDNLPYVQI LKTAGVNTTD KEMEVLHLRN VSFEDAGEYT CLAGNSIGLS HHSAWLTVLE 
    ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK SGTKKSDFHS QMAVHKLAKS 
    IPLRRQVSAD SSASMNSGVL LVRPSRLSSS GTPMLAGVSE YELPEDPRWE LPRDRLVLGK 
    PLGEGCFGQV VLAEAIGLDK DKPNRVTKVA VKMLKSDATE KDLSDLISEM EMMKMIGKHK 
    NIINLLGACT QDGPLYVIVE YASKGNLREY LQARRPPGLE YCYNPSHNPE EQLSSKDLVS 
    CAYQVARGME YLASKKCIHR DLAARNVLVT EDNVMKIADF GLARDIHHID YYKKTTNGRL 
    PVKWMAPEAL FDRIYTHQSD VWSFGVLLWE IFTLGGSPYP GVPVEELFKL LKEGHRMDKP 
    SNCTNELYMM MRDCWHAVPS QRPTFKQLVE DLDRIVALTS NQEYLDLSMP LDQYSPSFPD 
    TRSSTCSSGE DSVFSHEPLP EEPCLPRHPA QLANGGLKRR

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.