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Receptor 3 fibroblastnog faktora rasta

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Receptor 3 fibroblastnog faktora rasta‎

Rendering of 1ry7
Dostupne strukture
1RY7, 2LZL, 4K33
Identifikatori
SimboliFGFR3; ACH; CD333; CEK2; HSFGFR3EX; JTK4
Vanjski IDOMIM134934 MGI95524 HomoloGene55437 GeneCards: FGFR3 Gene
EC broj2.7.10.1
Pregled RNK izražavanja
podaci
Ortolozi
VrstaČovekMiš
Entrez226114184
EnsemblENSG00000068078ENSMUSG00000054252
UniProtP22607E9QNJ9
Ref. Sekv. (iRNK)NM_000142NM_001163215
Ref. Sekv. (protein)NP_000133NP_001156687
Lokacija (UCSC)Chr 4:
1.8 - 1.81 Mb
Chr 5:
33.72 - 33.74 Mb
PubMed pretraga[1][2]

Receptor 3 fibroblastnog faktora rasta je protein koji je kod ljudi kodiran FGFR3 genom.[1] FGFR3 se takođe obeležava sa CD333 (klaster diferencijacije 333).

Struktura i funkcija

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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.[2]

Interakcije

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Receptor 3 fibroblastnog faktora rasta formira interakcije sa FGF1[3][4] i FGF9.[3][4]

Vidi još

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Reference

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  1. Keegan K, Johnson DE, Williams LT, Hayman MJ (Mar 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. DOI:10.1073/pnas.88.4.1095. PMC 50963. PMID 1847508. 
  2. „Entrez Gene: FGFR3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)”. 
  3. 3,0 3,1 Santos-Ocampo, S; Colvin J S; Chellaiah A; Ornitz D M (Jan 1996). „Expression and biological activity of mouse fibroblast growth factor-9”. J. Biol. Chem. (UNITED STATES) 271 (3): 1726–31. DOI:10.1074/jbc.271.3.1726. ISSN 0021-9258. PMID 8576175. 
  4. 4,0 4,1 Chellaiah, A; Yuan W; Chellaiah M; Ornitz D M (Dec 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. DOI:10.1074/jbc.274.49.34785. ISSN 0021-9258. PMID 10574949. 

Literatura

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Vanjske veze

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Receptor 3 fibroblastnog faktora rasta
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