Descriptions

Fibroblast growth factor receptor 3 (FGFR3) is one of the members of FGFR family belonging to the receptor tyrosine kinases (RTK) in cell proliferation, differentiation, migration, and maintenance of cellular homeostasis. FGFR3 consists of the ligand-binding region (immunoglobulin (Ig) domain 1-like domains) designated D1, D2, and D3, and a kinase domain. The D1 domain and the acid box (AB)-containing linker between D1 and D2 are involved in autoinhibition. Loss of D1 or the linker enhances the affinity of FGFR for FGF and HS and increases the signaling capacity of FGFR. Specifically, the AB region blocks the heparan sulfate (HS)-binding site on the D2 domain in cis to suppress HS-binding affinity of EGFR. D1 is dispensable for autoinhibition but plays a minor role in autoinhibition.

Autoinhibitory domains (AIDs)

Target domain

152-249 (D2 domain)

Relief mechanism

Others

Assay

Target domain

477-764 (Protein kinase domain)

Relief mechanism

Ligand binding, PTM

Assay

Target domain

477-764 (Protein kinase domain)

Relief mechanism

Ligand binding, PTM

Assay

Accessory elements

639-664 (Activation loop from InterPro)

Target domain

477-766 (Protein kinase domain)

Relief mechanism

Assay

639-664 (Activation loop from InterPro)

Target domain

477-766 (Protein kinase domain)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

1 structures for Q8JG38

Entry ID Method Resolution Chain Position Source
AF-Q8JG38-F1 Predicted AlphaFoldDB

No variants for Q8JG38

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for Q8JG38

2 associated diseases with Q8JG38

[MIM: 618287]: Mucocutaneous ulceration, chronic (CMCU)

An autosomal dominant, mucocutaneous disease characterized by chronic mucosal lesions, in absence of recurrent infections. {ECO:0000269|PubMed:28600438}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal dominant, mucocutaneous disease characterized by chronic mucosal lesions, in absence of recurrent infections. {ECO:0000269|PubMed:28600438}. Note=The disease may be caused by variants affecting the gene represented in this entry.

2 regional properties for Q8JG38

Type Name Position InterPro Accession
domain Nuclear hormone receptor, ligand-binding domain 672 - 906 IPR000536
domain Zinc finger, nuclear hormone receptor-type 557 - 632 IPR001628

Functions

Description
EC Number 2.7.10.1 Protein-tyrosine kinases
Subcellular Localization
  • Cell membrane; Single-pass type I membrane protein
  • Golgi apparatus
  • Cytoplasmic vesicle
  • Detected on osteoblast plasma membrane lipid rafts
  • After ligand binding, the activated receptor is rapidly internalized and degraded (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytoplasmic vesicle A vesicle found in the cytoplasm of a cell.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

3 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
fibroblast growth factor binding Binding to a fibroblast growth factor.
fibroblast growth factor receptor activity Combining with a fibroblast growth factor receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.

14 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cartilage development The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.
cell proliferation in midbrain The multiplication or reproduction of cells, resulting in the expansion of a cell population in the midbrain.
cilium assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
determination of heart left/right asymmetry Determination of the asymmetric location of the heart with respect to the left and right halves of the organism.
determination of left/right asymmetry in lateral mesoderm The establishment of the lateral mesoderm with respect to the left and right halves.
determination of liver left/right asymmetry Determination of the asymmetric location of the liver with respect to the left and right halves of the organism.
determination of pancreatic left/right asymmetry Determination of the asymmetric location of the pancreas with respect to the left and right halves of the organism.
digestive tract development The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed.
midbrain development The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles).
pectoral fin development The process whose specific outcome is the progression of the pectoral fin over time, from its formation to the mature structure.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation.
regulation of hematopoietic stem cell differentiation Any process that modulates the frequency, rate or extent of hematopoietic stem cell differentiation.

83 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P43481 KIT Mast/stem cell growth factor receptor Kit Bos taurus (Bovine) SS
Q06805 TIE1 Tyrosine-protein kinase receptor Tie-1 Bos taurus (Bovine) PR
Q06807 TEK Angiopoietin-1 receptor Bos taurus (Bovine) SS
Q28889 KIT Mast/stem cell growth factor receptor Kit Felis catus (Cat) (Felis silvestris catus) SS
P13369 CSF1R Macrophage colony-stimulating factor 1 receptor Felis catus (Cat) (Felis silvestris catus) SS
P18460 FGFR3 Fibroblast growth factor receptor 3 Gallus gallus (Chicken) SS
P21804 FGFR1 Fibroblast growth factor receptor 1 Gallus gallus (Chicken) SS
Q9PUF6 PDGFRA Platelet-derived growth factor receptor alpha Gallus gallus (Chicken) SS
Q08156 KIT Mast/stem cell growth factor receptor Kit Gallus gallus (Chicken) SS
Q8QHL3 FLT1 Vascular endothelial growth factor receptor 1 Gallus gallus (Chicken) SS
P18461 FGFR2 Fibroblast growth factor receptor 2 Gallus gallus (Chicken) SS
Q07407 htl Fibroblast growth factor receptor homolog 1 Drosophila melanogaster (Fruit fly) PR
Q6J9G0 STYK1 Tyrosine-protein kinase STYK1 Homo sapiens (Human) PR
P36888 FLT3 Receptor-type tyrosine-protein kinase FLT3 Homo sapiens (Human) EV
P16234 PDGFRA Platelet-derived growth factor receptor alpha Homo sapiens (Human) EV
P09619 PDGFRB Platelet-derived growth factor receptor beta Homo sapiens (Human) EV
P35916 FLT4 Vascular endothelial growth factor receptor 3 Homo sapiens (Human) SS
P35968 KDR Vascular endothelial growth factor receptor 2 Homo sapiens (Human) EV
P17948 FLT1 Vascular endothelial growth factor receptor 1 Homo sapiens (Human) SS
P07333 CSF1R Macrophage colony-stimulating factor 1 receptor Homo sapiens (Human) SS
P10721 KIT Mast/stem cell growth factor receptor Kit Homo sapiens (Human) EV
P22455 FGFR4 Fibroblast growth factor receptor 4 Homo sapiens (Human) SS
P22607 FGFR3 Fibroblast growth factor receptor 3 Homo sapiens (Human) EV
P07949 RET Proto-oncogene tyrosine-protein kinase receptor Ret Homo sapiens (Human) EV
P35590 TIE1 Tyrosine-protein kinase receptor Tie-1 Homo sapiens (Human) PR
Q02763 TEK Angiopoietin-1 receptor Homo sapiens (Human) SS
P11362 FGFR1 Fibroblast growth factor receptor 1 Homo sapiens (Human) EV
P21802 FGFR2 Fibroblast growth factor receptor 2 Homo sapiens (Human) EV
Q03142 Fgfr4 Fibroblast growth factor receptor 4 Mus musculus (Mouse) PR
P05532 Kit Mast/stem cell growth factor receptor Kit Mus musculus (Mouse) PR
Q91V87 Fgfrl1 Fibroblast growth factor receptor-like 1 Mus musculus (Mouse) PR
P35917 Flt4 Vascular endothelial growth factor receptor 3 Mus musculus (Mouse) SS
P05622 Pdgfrb Platelet-derived growth factor receptor beta Mus musculus (Mouse) SS
P09581 Csf1r Macrophage colony-stimulating factor 1 receptor Mus musculus (Mouse) SS
P35969 Flt1 Vascular endothelial growth factor receptor 1 Mus musculus (Mouse) SS
P35546 Ret Proto-oncogene tyrosine-protein kinase receptor Ret Mus musculus (Mouse) SS
Q06806 Tie1 Tyrosine-protein kinase receptor Tie-1 Mus musculus (Mouse) SS
Q00342 Flt3 Receptor-type tyrosine-protein kinase FLT3 Mus musculus (Mouse) SS
Q6J9G1 Styk1 Tyrosine-protein kinase STYK1 Mus musculus (Mouse) PR
P16092 Fgfr1 Fibroblast growth factor receptor 1 Mus musculus (Mouse) SS
Q61851 Fgfr3 Fibroblast growth factor receptor 3 Mus musculus (Mouse) PR
Q02858 Tek Angiopoietin-1 receptor Mus musculus (Mouse) SS
P35918 Kdr Vascular endothelial growth factor receptor 2 Mus musculus (Mouse) PR
P26618 Pdgfra Platelet-derived growth factor receptor alpha Mus musculus (Mouse) SS
P21803 Fgfr2 Fibroblast growth factor receptor 2 Mus musculus (Mouse) SS
Q2HWD6 KIT Mast/stem cell growth factor receptor Kit Sus scrofa (Pig) SS
Q7TQM3 Fgfrl1 Fibroblast growth factor receptor-like 1 Rattus norvegicus (Rat) PR
P53767 Flt1 Vascular endothelial growth factor receptor 1 Rattus norvegicus (Rat) PR
P20786 Pdgfra Platelet-derived growth factor receptor alpha Rattus norvegicus (Rat) SS
Q91ZT1 Flt4 Vascular endothelial growth factor receptor 3 Rattus norvegicus (Rat) SS
Q04589 Fgfr1 Fibroblast growth factor receptor 1 Rattus norvegicus (Rat) SS
G3V9H8 Ret Proto-oncogene tyrosine-protein kinase receptor Ret Rattus norvegicus (Rat) SS
Q498D6 Fgfr4 Fibroblast growth factor receptor 4 Rattus norvegicus (Rat) PR
Q05030 Pdgfrb Platelet-derived growth factor receptor beta Rattus norvegicus (Rat) SS
O08775 Kdr Vascular endothelial growth factor receptor 2 Rattus norvegicus (Rat) SS
Q17833 old-1 Tyrosine-protein kinase receptor old-1 Caenorhabditis elegans PR
Q19238 F09A5.2 Putative tyrosine-protein kinase F09A5.2 Caenorhabditis elegans SS
P34892 kin-16 Receptor-like tyrosine-protein kinase kin-16 Caenorhabditis elegans PR
G5ED65 ver-1 Protein ver-1 Caenorhabditis elegans PR
Q10656 egl-15 Myoblast growth factor receptor egl-15 Caenorhabditis elegans PR
Q8VYA3 WAKL10 Wall-associated receptor kinase-like 10 Arabidopsis thaliana (Mouse-ear cress) PR
Q9C9L5 WAKL9 Wall-associated receptor kinase-like 9 Arabidopsis thaliana (Mouse-ear cress) PR
Q9M092 WAKL17 Wall-associated receptor kinase-like 17 Arabidopsis thaliana (Mouse-ear cress) PR
Q0WNY5 WAKL18 Wall-associated receptor kinase-like 18 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LMN7 WAK5 Wall-associated receptor kinase 5 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LSV3 WAKL16 Putative wall-associated receptor kinase-like 16 Arabidopsis thaliana (Mouse-ear cress) PR
Q9M342 WAKL15 Wall-associated receptor kinase-like 15 Arabidopsis thaliana (Mouse-ear cress) PR
O73791 tek Angiopoietin-1 receptor Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q5GIT4 kdr Vascular endothelial growth factor receptor 2 Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q5MD89 flt4 Vascular endothelial growth factor receptor 3 Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q8AXB3 kdrl Vascular endothelial growth factor receptor kdr-like Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q8JFR5 kita Mast/stem cell growth factor receptor kita Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q90413 fgfr4 Fibroblast growth factor receptor 4 Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q90Z00 fgfr1a Fibroblast growth factor receptor 1-A Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q9DE49 pdgfra Platelet-derived growth factor receptor alpha Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q9I8N6 csf1r Macrophage colony-stimulating factor 1 receptor Danio rerio (Zebrafish) (Brachydanio rerio) SS
E7F3X9 ddr1 receptor protein-tyrosine kinase Danio rerio (Zebrafish) (Brachydanio rerio) SS
O13146 epha3 Ephrin type-A receptor 3 Danio rerio (Zebrafish) (Brachydanio rerio) SS
O73878 ephb4b Ephrin type-B receptor 4b Danio rerio (Zebrafish) (Brachydanio rerio) SS
O13147 ephb3 Ephrin type-B receptor 3 Danio rerio (Zebrafish) (Brachydanio rerio) SS
F1QVU0 ltk Tyrosine-protein kinase receptor Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q9YI66 tyro3 Tyrosine-protein kinase receptor TYRO3 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q9I8X3 fgfr3 Fibroblast growth factor receptor 3 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MFARGWLLGA LLLMTLATVS VARPSLKIDL VNTSAPEEPP TKNQNCVPVL FSVHPGELLK
70 80 90 100 110 120
LKCPLSGADD VVWTKDSSSL RPDNRTLVAR DWLQISDATP KDSGLYSCSA TGLRDCDVFS
130 140 150 160 170 180
FIVNVTDAIS SGDDEDDTER SDDVGADGEQ MRLPYWTFPE KMEKKLHAVP AANTVKFRCA
190 200 210 220 230 240
AAGNPKPKMR WLKNAKPFRQ EDRMGGYKVR LQHWTLIMES VVPSDKGNYT CLVENQYGSI
250 260 270 280 290 300
DHTYTLDVVE RSPHRPILQA GLPANVTVQV GQDAKFVCKV YSDAQPHIQW LQHYTKNGSC
310 320 330 340 350 360
CGPDGLPYVR VLKTAGVNTT DKEIEVLYLP NVTFEDAGEY TCLAGNSIGI SYHTAWLTVH
370 380 390 400 410 420
PAETNPIETD YPPDYVEIAI YCIGVFLIAC MVVIVVVCRM RTSAKKPDFS SQPAVHKLTK
430 440 450 460 470 480
QIPLRRQVTV SSDSSSSMSS STPLVRITTR RSSAHDDPIP EYDLPEDPRW EFSRDKLTLG
490 500 510 520 530 540
KPLGEGCFGQ VVMAEALGID KDKPKEAVTV AVKMLKDDAT EKDLSDLVSE MEMMKMIGRH
550 560 570 580 590 600
KNIINLLGAC TQDGPLYVIV EYASKGNLRE YLRARRPPGM EYSYDIARVS DEPLTFKDLV
610 620 630 640 650 660
SCTYQVARGM EYLASQKCIH RDLAARNVLV TESNVMKIAD FGLARDVHNI DYYKKTTNGR
670 680 690 700 710 720
LPVKWMAPEA LFDRVYTHQS DVWSFGVLMW EIFTLGGSPY PGIPVEELFK LLKEGHRMDK
730 740 750 760 770 780
PANCTNELYM MMKDCWHAIS SHRPTFKQLV EDLDRILTLA TNEEYLDLCA PVEQYSPSFP
790 800 810
DTRSSCPSGD DSVFSHDPLA DEPCLPKYQH INGGIKT