Receptor 3 fibroblastnog faktora rasta

FGFR3
Available structures PDB Pretraga ortologa: PDBe RCSB List of PDB id codes 1RY7, 2LZL, 4K33
Identifikatori
Alijasi	FGFR3
Spoljašnji ID	OMIM: 134934 MGI: 95524 HomoloGene: 55437 GeneCards: FGFR3
Genska lokacija (miš) Hr. Chromosome 5 (mouse)[1] Band 5 B2|5 17.83 cM Start 33,879,018 bp[1] Kraj 33,894,412 bp[1]
Obrazac RNK izražavanja More reference expression data
Genska ontologija Molecular function • transferase activity • nucleotide binding • protein kinase activity • kinase activity • GO:0001948, GO:0016582 везивање за протеине плазме • transmembrane receptor protein tyrosine kinase activity • fibroblast growth factor binding • fibroblast growth factor-activated receptor activity • ATP binding • protein tyrosine kinase activity • phosphatidylinositol-4,5-bisphosphate 3-kinase activity • 1-phosphatidylinositol-3-kinase activity • identical protein binding • Receptor tirozinska kinaza • transmembrane signaling receptor activity Cellular component • цитоплазма • саставни део мембране • Голџијев апарат • мембрана • focal adhesion • ћелијска мембрана • integral component of plasma membrane • transport vesicle • ванћелијска област • површина ћелије • ендоплазматични ретикулум • GO:0016023 cytoplasmic vesicle • једро • receptor complex Biological process • bone mineralization • chondrocyte differentiation • Fosforilacija • negative regulation of developmental growth • cell-cell signaling • bone morphogenesis • endochondral ossification • bone maturation • fibroblast growth factor receptor apoptotic signaling pathway • MAPK cascade • positive regulation of phosphatidylinositol 3-kinase activity • positive regulation of phospholipase activity • fibroblast growth factor receptor signaling pathway • protein phosphorylation • chondrocyte proliferation • positive regulation of cell population proliferation • positive regulation of ERK1 and ERK2 cascade • protein autophosphorylation • peptidyl-tyrosine phosphorylation • endochondral bone growth • positive regulation of MAPK cascade • GO:0097285 апоптоза • phosphatidylinositol phosphate biosynthetic process • phosphatidylinositol-3-phosphate biosynthetic process • positive regulation of tyrosine phosphorylation of STAT protein • skeletal system development • positive regulation of protein kinase B signaling • negative regulation of signal transduction • диференцијација • негативно регулисање апоптотичког процеса • transmembrane receptor protein tyrosine kinase signaling pathway Sources:Amigo / QuickGO
Ortolozi
Vrste	Čovek	Miš
Entrez	2261	14184
Ensembl	ENSG00000068078	ENSMUSG00000054252
UniProt	P22607	Q61851
RefSeq (mRNA)	NM_000142 NM_001163213 NM_022965 NM_001354809 NM_001354810	NM_001163215 NM_001163216 NM_001163217 NM_001205270 NM_008010 NM_001359036 NM_001359037
RefSeq (protein)	NP_000133 NP_001156685 NP_075254 NP_001341738 NP_001341739	n/a
Location (UCSC)	n/a	Chr 5: 33.88 – 33.89 Mb
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

Receptor 3 fibroblastnog faktora rasta je protein koji je kod ljudi kodiran FGFR3 genom.^[4] FGFR3 se takođe obeležava sa CD333 (klaster diferencijacije 333).

Struktura i funkcija

Protein kodiran ovim genom je član familije receptora fibroblastnih faktora rasta (FGFR) među kojima je aminokiselinska sekvenca visoko konzervirana tokom evolucije. Članovi FGFR familije se međusobno razlikuju po nihovom afinitetu za ligande i tkivnoj distribuciji. Reprezentativni protein pune dužine se sastoji od ekstracelularnog regiona, sastavljenog od tri imunoglobulinu slična domena, jednog hidrofobnog jednoprolaznog membranskog segmenta i citoplazmatičnog tirozinskog kinaznog domena. Ekstracelularna porcija proteina interaguje sa fibroblastnim faktorima rasta, čime se pokreće signalna kaslada koja utiče na mitogenezu i diferencijaciju. Ovaj član familije se vezuje za kisele i bazne fibroblastne faktore rasta. Mutacije ovog gena dovode do kraniosinostoze i višestrukih tipova skeletalnih displazija. Alternativno splajsovanje se javlja i dodatne varijante su opisane, inključujući one koje koriste alternativni ekson 8 umesto 9, ali one nisu dovoljno ispitane.^[5]

Interakcije

Receptor 3 fibroblastnog faktora rasta formira interakcije sa FGF1^[6][7] i FGF9.^[6][7]

Vidi još

• Klaster diferencijacije
• Receptori fibroblastnih faktora rasta

Reference

1. GRCm38: Ensembl release 89: ENSMUSG00000054252 - Ensembl, May 2017
2. „Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine. 
3. „Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine. 
4. Keegan K, Johnson DE, Williams LT, Hayman MJ (1991). „Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3”. Proc Natl Acad Sci U S A. 88 (4): 1095—9. PMC 50963 . PMID 1847508. doi:10.1073/pnas.88.4.1095. 
5. „Entrez Gene: FGFR3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)”. 
6. Santos-Ocampo, S; Colvin J S; Chellaiah A; Ornitz D M (1996). „Expression and biological activity of mouse fibroblast growth factor-9”. J. Biol. Chem. UNITED STATES. 271 (3): 1726—31. ISSN 0021-9258. PMID 8576175. doi:10.1074/jbc.271.3.1726. 
7. Chellaiah, A; Yuan W; Chellaiah M; Ornitz D M (1999). „Mapping ligand binding domains in chimeric fibroblast growth factor receptor molecules. Multiple regions determine ligand binding specificity”. J. Biol. Chem. UNITED STATES. 274 (49): 34785—94. ISSN 0021-9258. PMID 10574949. doi:10.1074/jbc.274.49.34785. 

Literatura

{{PBB_Further_reading | citations =

• Schweitzer DN, Graham JM, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR (2001). „Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3”. American Journal of Medical Genetics. 98 (1): 75—91. PMID 11426459. doi:10.1002/1096-8628(20010101)98:1<75::AID-AJMG1010>3.0.CO;2-6. 
• Horton WA, Lunstrum GP (2002). „Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism”. Reviews in Endocrine & Metabolic Disorders. 3 (4): 381—5. PMID 12424440. 
• Bonaventure J, Silve C (2005). „[Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways]”. Médecine Sciences. 21 (11): 954—61. PMID 16274647. doi:10.1051/medsci/20052111954. 
• Hernández S, Toll A, Baselga E, Ribé A, Azua-Romeo J, Pujol RM, Real FX (2007). „Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors”. The Journal of Investigative Dermatology. 127 (7): 1664—6. PMID 17255960. doi:10.1038/sj.jid.5700705. 
• Olsen SK, Ibrahimi OA, Raucci A, Zhang F, Eliseenkova AV, Yayon A, Basilico C, Linhardt RJ, Schlessinger J, Mohammadi M (2004). „Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity”. Proceedings of the National Academy of Sciences of the United States of America. 101 (4): 935—40. PMC 327120 . PMID 14732692. doi:10.1073/pnas.0307287101. 

Spoljašnje veze

• GeneReviews/NIH/NCBI/UW entry on FGFR-Related Craniosynostosis Syndromes
• GeneReviews/NIH/NCBI/UW entry on Muenke Syndrome
• GeneReviews/NIH/NCBI/UW entry on Achondroplasia
• GeneReviews/NIH/NCBI/UW entry on Hypochondroplasia
• GeneReviews/NIH/NCBI/UW entry on Thanatophoric Dysplasia
• FGFR3+protein,+human на US National Library of Medicine Medical Subject Headings (MeSH)