EKS-HOS-00153
Eukaryotic Protein Kinase & Protein Phosphatase Database
TagContent
EKPD IDEKS-HOS-00153
Classification
Group/FamilyScoreE-ValueStartEndDomain Length
TK/FGFR556.73.6E-167360636277
StatusReviewed
Ensembl ProteinENSP00000231803
UniProt AccessionP22607; D3DVP9; D3DVQ0; Q14308; Q16294; Q16608; Q59FL9;
Protein NameFibroblast growth factor receptor 3
Protein Synonyms/Alias FGFR-3;
Gene NameFGFR3
Gene Synonyms/Alias FGFR3; JTK4;
Ensembl Information
Ensembl Gene IDEnsembl Protein IDEnsembl Transcript ID
ENSG00000068078ENSP00000412903ENST00000412135
ENSG00000068078ENSP00000414914ENST00000440486
ENSG00000068078ENSP00000231803ENST00000352904
ENSG00000068078ENSP00000339824ENST00000340107
ENSG00000068078ENSP00000427289ENST00000507588
ENSG00000068078ENSP00000260795ENST00000260795
ENSG00000068078ENSP00000420533ENST00000481110
OrganismHomo sapiens
Functional DescriptionTyrosine-protein kinase that acts as cell-surfacereceptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B.
Protein Length694
Protein Sequence
(FASTA)
MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS 60
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH 120
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG 180
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT 240
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP 300
DGTPYVTVLK VSLESNASMS SNTPLVRIAR LSSGEGPTLA NVSELELPAD PKWELSRARL 360
TLGKPLGEGC FGQVVMAEAI GIDKDRAAKP VTVAVKMLKD DATDKDLSDL VSEMEMMKMI 420
GKHKNIINLL GACTQGGPLY VLVEYAAKGN LREFLRARRP PGLDYSFDTC KPPEEQLTFK 480
DLVSCAYQVA RGMEYLASQK CIHRDLAARN VLVTEDNVMK IADFGLARDV HNLDYYKKTT 540
NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LLWEIFTLGG SPYPGIPVEE LFKLLKEGHR 600
MDKPANCTHD LYMIMRECWH AAPSQRPTFK QLVEDLDRVL TVTSTDEYLD LSAPFEQYSP 660
GGQDTPSSSS SGDDSVFAHD LLPPAPPSSG GSRT 694
Nucleotide Sequence
(FASTA)
ATGGGCGCCC CTGCCTGCGC CCTCGCGCTC TGCGTGGCCG TGGCCATCGT GGCCGGCGCC 60
TCCTCGGAGT CCTTGGGGAC GGAGCAGCGC GTCGTGGGGC GAGCGGCAGA AGTCCCGGGC 120
CCAGAGCCCG GCCAGCAGGA GCAGTTGGTC TTCGGCAGCG GGGATGCTGT GGAGCTGAGC 180
TGTCCCCCGC CCGGGGGTGG TCCCATGGGG CCCACTGTCT GGGTCAAGGA TGGCACAGGG 240
CTGGTGCCCT CGGAGCGTGT CCTGGTGGGG CCCCAGCGGC TGCAGGTGCT GAATGCCTCC 300
CACGAGGACT CCGGGGCCTA CAGCTGCCGG CAGCGGCTCA CGCAGCGCGT ACTGTGCCAC 360
TTCAGTGTGC GGGTGACAGA CGCTCCATCC TCGGGAGATG ACGAAGACGG GGAGGACGAG 420
GCTGAGGACA CAGGTGTGGA CACAGGGGCC CCTTACTGGA CACGGCCCGA GCGGATGGAC 480
AAGAAGCTGC TGGCCGTGCC GGCCGCCAAC ACCGTCCGCT TCCGCTGCCC AGCCGCTGGC 540
AACCCCACTC CCTCCATCTC CTGGCTGAAG AACGGCAGGG AGTTCCGCGG CGAGCACCGC 600
ATTGGAGGCA TCAAGCTGCG GCATCAGCAG TGGAGCCTGG TCATGGAAAG CGTGGTGCCC 660
TCGGACCGCG GCAACTACAC CTGCGTCGTG GAGAACAAGT TTGGCAGCAT CCGGCAGACG 720
TACACGCTGG ACGTGCTGGA GCGCTCCCCG CACCGGCCCA TCCTGCAGGC GGGGCTGCCG 780
GCCAACCAGA CGGCGGTGCT GGGCAGCGAC GTGGAGTTCC ACTGCAAGGT GTACAGTGAC 840
GCACAGCCCC ACATCCAGTG GCTCAAGCAC GTGGAGGTGA ATGGCAGCAA GGTGGGCCCG 900
GACGGCACAC CCTACGTTAC CGTGCTCAAG GTGTCCCTGG AGTCCAACGC GTCCATGAGC 960
TCCAACACAC CACTGGTGCG CATCGCAAGG CTGTCCTCAG GGGAGGGCCC CACGCTGGCC 1020
AATGTCTCCG AGCTCGAGCT GCCTGCCGAC CCCAAATGGG AGCTGTCTCG GGCCCGGCTG 1080
ACCCTGGGCA AGCCCCTTGG GGAGGGCTGC TTCGGCCAGG TGGTCATGGC GGAGGCCATC 1140
GGCATTGACA AGGACCGGGC CGCCAAGCCT GTCACCGTAG CCGTGAAGAT GCTGAAAGAC 1200
GATGCCACTG ACAAGGACCT GTCGGACCTG GTGTCTGAGA TGGAGATGAT GAAGATGATC 1260
GGGAAACACA AAAACATCAT CAACCTGCTG GGCGCCTGCA CGCAGGGCGG GCCCCTGTAC 1320
GTGCTGGTGG AGTACGCGGC CAAGGGTAAC CTGCGGGAGT TTCTGCGGGC GCGGCGGCCC 1380
CCGGGCCTGG ACTACTCCTT CGACACCTGC AAGCCGCCCG AGGAGCAGCT CACCTTCAAG 1440
GACCTGGTGT CCTGTGCCTA CCAGGTGGCC CGGGGCATGG AGTACTTGGC CTCCCAGAAG 1500
TGCATCCACA GGGACCTGGC TGCCCGCAAT GTGCTGGTGA CCGAGGACAA CGTGATGAAG 1560
ATCGCAGACT TCGGGCTGGC CCGGGACGTG CACAACCTCG ACTACTACAA GAAGACGACC 1620
AACGGCCGGC TGCCCGTGAA GTGGATGGCG CCTGAGGCCT TGTTTGACCG AGTCTACACT 1680
CACCAGAGTG ACGTCTGGTC CTTTGGGGTC CTGCTCTGGG AGATCTTCAC GCTGGGGGGC 1740
TCCCCGTACC CCGGCATCCC TGTGGAGGAG CTCTTCAAGC TGCTGAAGGA GGGCCACCGC 1800
ATGGACAAGC CCGCCAACTG CACACACGAC CTGTACATGA TCATGCGGGA GTGCTGGCAT 1860
GCCGCGCCCT CCCAGAGGCC CACCTTCAAG CAGCTGGTGG AGGACCTGGA CCGTGTCCTT 1920
ACCGTGACGT CCACCGACGA GTACCTGGAC CTGTCGGCGC CTTTCGAGCA GTACTCCCCG 1980
GGTGGCCAGG ACACCCCCAG CTCCAGCTCC TCAGGGGACG ACTCCGTGTT TGCCCACGAC 2040
CTGCTGCCCC CGGCCCCACC CAGCAGTGGG GGCTCGCGGA CGTGA 2085
Domain Profile
S: 1     lvlgkllGeGafGqvvkaeaigldkdkekkevtvavkmlkedatdkdladlvsemevlkl  60
         l+lgk+lGeG+fGqvv+aeaig+dkd+++k vtvavkmlk+datdkdl+dlvseme++k+
Q: 360   LTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKM  419
         79**********************************************************
S: 61    iGkhkniinllGactqeGplyviveyaakGnlreflrarrpkgeeaskdkskaseeqlte  120
         iGkhkniinllGactq+Gplyv+veyaakGnlreflrarrp+g ++s d++k +eeqlt+
Q: 420   IGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTF  479
         ************************************************************
S: 121   kdlvsfayqvarGmeylaskkcihrdlaarnvlvtednvlkiadfGlardvheidyykkt  180
         kdlvs+ayqvarGmeylas+kcihrdlaarnvlvtednv+kiadfGlardvh++dyykkt
Q: 480   KDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKT  539
         ************************************************************
S: 181   tnGrlpvkwmapealfdrvytsqsdvwsfGvllweiltlGgspypgiaveelfkllkeGh  240
         tnGrlpvkwmapealfdrvyt+qsdvwsfGvllwei+tlGgspypgi+veelfkllkeGh
Q: 540   TNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGH  599
         ************************************************************
S: 241   rmekpakctkelyvlmrecwhakaserptfkqlvedl  277
         rm+kpa+ct++ly++mrecwha++s+rptfkqlvedl
Q: 600   RMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDL  636
         ***********************************97
Domain Sequence
(FASTA)
LTLGKPLGEG CFGQVVMAEA IGIDKDRAAK PVTVAVKMLK DDATDKDLSD LVSEMEMMKM 60
IGKHKNIINL LGACTQGGPL YVLVEYAAKG NLREFLRARR PPGLDYSFDT CKPPEEQLTF 120
KDLVSCAYQV ARGMEYLASQ KCIHRDLAAR NVLVTEDNVM KIADFGLARD VHNLDYYKKT 180
TNGRLPVKWM APEALFDRVY THQSDVWSFG VLLWEIFTLG GSPYPGIPVE ELFKLLKEGH 240
RMDKPANCTH DLYMIMRECW HAAPSQRPTF KQLVEDL 277
Keyword3D-structure; Alternative splicing; Apoptosis; ATP-binding; Cell membrane; Chromosomal rearrangement; Complete proteome; Craniosynostosis; Cytoplasmic vesicle; Deafness; Disease mutation; Disulfide bond; Dwarfism; Ectodermal dysplasia; Endoplasmic reticulum; Glycoprotein; Immunoglobulin domain; Kinase; Lacrimo-auriculo-dento-digital syndrome; Membrane; Nucleotide-binding; Phosphoprotein; Polymorphism; Receptor; Reference proteome; Repeat; Signal; Transferase; Transmembrane; Transmembrane helix; Tyrosine-protein kinase; Ubl conjugation.
Sequence SourceEnsembl
Orthology
Ortholog group
Caenorhabditis elegans"; ?>Danio rerio"; ?>Macaca mulatta"; ?>Pongo abelii"; ?>
EKS-CAE-00120
EKS-DAR-00433
EKS-MAM-00144
EKS-POA-00145
Gene Ontology
GO:0016023; C:cytoplasmic membrane-bounded vesicle
GO:0005783; C:endoplasmic reticulum
GO:0005887; C:integral to plasma membrane
GO:0009898; C:internal side of plasma membrane
GO:0005764; C:lysosome
GO:0048471; C:perinuclear region of cytoplasm
GO:0005524; F:ATP binding
GO:0017134; F:fibroblast growth factor binding
GO:0005007; F:fibroblast growth factor-activated receptor activity
GO:0061144; P:alveolar secondary septum development
GO:0006915; P:apoptotic process
GO:0060385; P:axonogenesis involved in innervation
GO:0070977; P:bone maturation
GO:0022010; P:central nervous system myelination
GO:0002062; P:chondrocyte differentiation
GO:0035988; P:chondrocyte proliferation
GO:0090102; P:cochlea development
GO:0048546; P:digestive tract morphogenesis
GO:0003416; P:endochondral bone growth
GO:0001958; P:endochondral ossification
GO:0072148; P:epithelial cell fate commitment
GO:0060113; P:inner ear receptor cell differentiation
GO:0008286; P:insulin receptor signaling pathway
GO:0007259; P:JAK-STAT cascade
GO:0070307; P:lens fiber cell development
GO:0002089; P:lens morphogenesis in camera-type eye
GO:0000165; P:MAPK cascade
GO:0002009; P:morphogenesis of an epithelium
GO:0043066; P:negative regulation of apoptotic process
GO:0048712; P:negative regulation of astrocyte differentiation
GO:0048640; P:negative regulation of developmental growth
GO:0050680; P:negative regulation of epithelial cell proliferation
GO:0045839; P:negative regulation of mitosis
GO:0045879; P:negative regulation of smoothened signaling pathway
GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter
GO:0018108; P:peptidyl-tyrosine phosphorylation
GO:0043065; P:positive regulation of apoptotic process
GO:0090263; P:positive regulation of canonical Wnt receptor signaling pathway
GO:0045597; P:positive regulation of cell differentiation
GO:0008284; P:positive regulation of cell proliferation
GO:0001938; P:positive regulation of endothelial cell proliferation
GO:0070374; P:positive regulation of ERK1 and ERK2 cascade
GO:0090080; P:positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway
GO:0043552; P:positive regulation of phosphatidylinositol 3-kinase activity
GO:0010518; P:positive regulation of phospholipase activity
GO:0031398; P:positive regulation of protein ubiquitination
GO:0042511; P:positive regulation of tyrosine phosphorylation of Stat1 protein
GO:0042517; P:positive regulation of tyrosine phosphorylation of Stat3 protein
GO:0046777; P:protein autophosphorylation
GO:0042981; P:regulation of apoptotic process
GO:0048678; P:response to axon injury
GO:0035019; P:somatic stem cell maintenance
GO:0021762; P:substantia nigra development
KEGG
hsa:2261;
InterPros
IPR007110; Ig-like.
IPR013783; Ig-like_fold.
IPR013098; Ig_I-set.
IPR003599; Ig_sub.
IPR003598; Ig_sub2.
IPR013151; Immunoglobulin.
IPR011009; Kinase-like_dom.
IPR000719; Prot_kinase_cat_dom.
IPR017441; Protein_kinase_ATP_BS.
IPR001245; Ser-Thr/Tyr_kinase_cat_dom.
IPR008266; Tyr_kinase_AS.
IPR020635; Tyr_kinase_cat_dom.
IPR016248; Tyr_kinase_fibroblast_GF_rcpt.
Pfam
PF07679; I-set; 2.
PF00047; ig; 1.
PF07714; Pkinase_Tyr; 1.
SMARTs
SM00409; IG; 1.
SM00408; IGc2; 2.
SM00219; TyrKc; 1.
Prosites
PS50835; IG_LIKE; 3.
PS00107; PROTEIN_KINASE_ATP; 1.
PS50011; PROTEIN_KINASE_DOM; 1.
PS00109; PROTEIN_KINASE_TYR; 1.
Prints
PR00109; TYRKINASE.
Created Date20-Feb-2013