Details for: FGFR1

Gene ID: 2260

Symbol: FGFR1

Ensembl ID: ENSG00000077782

Description: fibroblast growth factor receptor 1

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: fibroblast of mammary gland (CL0002555)
    Fold Change: 3.68
    Marker Score: 125039.5
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 3.34
    Marker Score: 2851
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 3.3
    Marker Score: 13804
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 3.08
    Marker Score: 3287
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 2.95
    Marker Score: 1682
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 2.9
    Marker Score: 1207
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.88
    Marker Score: 842
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.37
    Marker Score: 1379
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 2.32
    Marker Score: 11400
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 2.21
    Marker Score: 549
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 2.19
    Marker Score: 549
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.17
    Marker Score: 687
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 2.15
    Marker Score: 495
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.13
    Marker Score: 45409
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.06
    Marker Score: 1017
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 2.05
    Marker Score: 749
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.02
    Marker Score: 18973
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.96
    Marker Score: 1290
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.94
    Marker Score: 19538
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.88
    Marker Score: 1993
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.87
    Marker Score: 3944
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.87
    Marker Score: 4887
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.8
    Marker Score: 510
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.79
    Marker Score: 4363
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.74
    Marker Score: 2396
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.72
    Marker Score: 38394.5
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.69
    Marker Score: 1130
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.67
    Marker Score: 14338
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.65
    Marker Score: 10742
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 1.65
    Marker Score: 933
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.65
    Marker Score: 4050
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.63
    Marker Score: 402
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.58
    Marker Score: 637
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.54
    Marker Score: 973
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.54
    Marker Score: 3383.5
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.54
    Marker Score: 1903
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 1.53
    Marker Score: 657
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.53
    Marker Score: 344
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.5
    Marker Score: 2315
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.47
    Marker Score: 819
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.46
    Marker Score: 1395
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167699
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.44
    Marker Score: 5547
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.42
    Marker Score: 18756
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 1.41
    Marker Score: 1365
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.41
    Marker Score: 359
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.4
    Marker Score: 2696
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.4
    Marker Score: 1314
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.38
    Marker Score: 976
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 1.35
    Marker Score: 328
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.35
    Marker Score: 2817
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.29
    Marker Score: 1488
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.28
    Marker Score: 3473
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.27
    Marker Score: 481
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.25
    Marker Score: 2130.5
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.25
    Marker Score: 699
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.25
    Marker Score: 19568
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 1.25
    Marker Score: 281
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.24
    Marker Score: 322
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.23
    Marker Score: 1065
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 1.23
    Marker Score: 1520
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.22
    Marker Score: 416
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.21
    Marker Score: 877
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.19
    Marker Score: 374
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.19
    Marker Score: 1731
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.18
    Marker Score: 2351
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 1.17
    Marker Score: 405
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 1.17
    Marker Score: 271
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.16
    Marker Score: 2048
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.15
    Marker Score: 2707.5
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.14
    Marker Score: 1232.5
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.14
    Marker Score: 760
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.14
    Marker Score: 749
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.13
    Marker Score: 11643
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.11
    Marker Score: 68417
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.11
    Marker Score: 3947.5
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.07
    Marker Score: 1251
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.07
    Marker Score: 1198
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.06
    Marker Score: 38956
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.05
    Marker Score: 1275
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 1.05
    Marker Score: 409
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251715
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.04
    Marker Score: 618
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71736
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1
    Marker Score: 320
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47961
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.99
    Marker Score: 2014
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.99
    Marker Score: 230.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30400
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.98
    Marker Score: 357
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.98
    Marker Score: 845
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.97
    Marker Score: 878
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.97
    Marker Score: 501
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 492
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.95
    Marker Score: 223
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.95
    Marker Score: 531
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2406
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.95
    Marker Score: 960
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 447
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.94
    Marker Score: 16742.5

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Other Information

**Key characteristics:** - FGFR1 is a transmembrane protein with a single extracellular domain and a single transmembrane domain. - It is a member of the FGFR family of cell surface receptors. - It is expressed in high levels in embryonic and adult tissues, where it is involved in cell proliferation, migration, and differentiation. - It is also expressed in some tumors and immune cells. **Pathways and functions:** - FGFR1 signaling is initiated by the binding of FGF to its receptor. - This binding triggers a cascade of intracellular events that lead to the activation of downstream signaling pathways. - These pathways include the MAPK/ERK signaling pathway, the PI3K/AKT pathway, and the mTOR pathway. - FGFR1 signaling is essential for the development and maintenance of tissues such as the skin, cartilage, and bone. - It is also involved in wound healing, tissue repair, and cancer progression. **Clinical significance:** - FGFR1 mutations are associated with various human cancers, including breast cancer, lung cancer, and colon cancer. - Targeting FGFR1 signaling has emerged as a promising therapeutic strategy for cancer treatment. - FGFR1 inhibitors are currently being tested in clinical trials for the treatment of cancer and other diseases. **Additional information:** - FGFR1 is a highly conserved protein with a wide expression in vertebrates. - It is the target of several anti-cancer drugs. - It is a promising target for the development of new cancer therapies.

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: 252471440

Symbol: A0A3B3ISD1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

Sequence Information:

  • Length: 818
  • Mass: 91380
  • Checksum: 8021187D9D2D10BB
  • Sequence:
  • MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD 
    VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD 
    ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG 
    TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT 
    YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP 
    DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL 
    EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP 
    LRRQVSADSS ASMNSGVLLV RPSRLSSSGT PMLAGVSEYE LPEDPRWELP RDRLVLGKPL 
    GEGCFGQVVL AEAIGLDKDK PNRVTKVAVK MLKSDATEKD LSDLISEMEM MKMIGKHKNI 
    INLLGACTQD GPLYVIVEYA SKGNLREYLQ ARRPPGLEYC YNPSHNPEEQ LSSKDLVSCA 
    YQVARGMEYL ASKKCIHRDL AARNVLVTED NVMKIADFGL ARDIHHIDYY KKTTNGRLPV 
    KWMAPEALFD RIYTHQSDVW SFGVLLWEIF TLGGSPYPGV PVEELFKLLK EGHRMDKPSN 
    CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRIVALTSNQ EYLDLSMPLD QYSPSFPDTR 
    SSTCSSGEDS VFSHEPLPEE PCLPRHPAQL ANGGLKRR

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. For the full schema, download it here.