Details for: FGFR1
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
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
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
PubMed ID: 2167437
Title: Diverse forms of a receptor for acidic and basic fibroblast growth factors.
PubMed ID: 2167437
PubMed ID: 2159626
Title: Complete sequence of a human receptor for acidic and basic fibroblast growth factors.
PubMed ID: 2159626
PubMed ID: 1722683
Title: cDNA cloning and expression of a human FGF receptor which binds acidic and basic FGF.
PubMed ID: 1722683
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
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
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
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
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
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
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
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
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
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
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
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
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
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
PubMed ID: 16597617
Title: Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family.
PubMed ID: 16597617
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
PubMed ID: 16507368
Title: Autophosphorylation of FGFR1 kinase is mediated by a sequential and precisely ordered reaction.
PubMed ID: 16507368
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
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
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
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
PubMed ID: 19696444
Title: Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.
PubMed ID: 19696444
PubMed ID: 19261810
Title: Fibroblast growth factor receptor-1 (FGFR1) nuclear dynamics reveal a novel mechanism in transcription control.
PubMed ID: 19261810
PubMed ID: 19224897
Title: The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations.
PubMed ID: 19224897
PubMed ID: 20422052
Title: A novel fibroblast growth factor-1 (FGF1) mutant that acts as an FGF antagonist.
PubMed ID: 20422052
PubMed ID: 19966287
Title: Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation.
PubMed ID: 19966287
PubMed ID: 21765395
Title: Nedd4-1 binds and ubiquitylates activated FGFR1 to control its endocytosis and function.
PubMed ID: 21765395
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
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
PubMed ID: 26942290
Title: Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis.
PubMed ID: 26942290
PubMed ID: 8752212
Title: Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism.
PubMed ID: 8752212
PubMed ID: 9139660
Title: Structures of the tyrosine kinase domain of fibroblast growth factor receptor in complex with inhibitors.
PubMed ID: 9139660
PubMed ID: 10830168
Title: Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.
PubMed ID: 10830168
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
PubMed ID: 19665973
Title: The selectivity of receptor tyrosine kinase signaling is controlled by a secondary SH2 domain binding site.
PubMed ID: 19665973
PubMed ID: 20133753
Title: Asymmetric receptor contact is required for tyrosine autophosphorylation of fibroblast growth factor receptor in living cells.
PubMed ID: 20133753
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
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
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
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
PubMed ID: 16757108
Title: Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
PubMed ID: 16757108
PubMed ID: 16606836
Title: Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
PubMed ID: 16606836
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
PubMed ID: 22927827
Title: SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
PubMed ID: 22927827
PubMed ID: 23643382
Title: Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
PubMed ID: 23643382
PubMed ID: 23812909
Title: FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
PubMed ID: 23812909
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
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
PubMed ID: 26871637
Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
PubMed ID: 26871637
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.