FGD4
| edit |
| FYVE, RhoGEF i PH domen sadržavajući 4 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | FGD4; CMT4H; FRABP; ZFYVE6 | ||||||||||
| Vanjski ID | OMIM: 611104 MGI: 2183747 HomoloGene: 26727 GeneCards: FGD4 Gene | ||||||||||
| |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 121512 | 224014 | |||||||||
| Ensembl | ENSG00000139132 | ENSMUSG00000022788 | |||||||||
| UniProt | Q96M96 | Q91ZT5 | |||||||||
| Ref. Sekv. (iRNK) | NM_139241 | NM_139232 | |||||||||
| Ref. Sekv. (protein) | NP_640334 | NP_631978 | |||||||||
| Lokacija (UCSC) | Chr 12: 32.55 - 32.8 Mb | Chr 16: 16.42 - 16.6 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
FYVE, RhoGEF i PH domen sadržavajući protein 4 je protein koji je kod čoveka kodiran FGD4 genom.[1][2]
- ↑ Ikeda W, Nakanishi H, Takekuni K, Itoh S, Takai Y (Aug 2001). „Identification of splicing variants of Frabin with partly different functions and tissue distribution”. Biochem Biophys Res Commun 286 (5): 1066–72. DOI:10.1006/bbrc.2001.5481. PMID 11527409.
- ↑ „Entrez Gene: FGD4 FYVE, RhoGEF and PH domain containing 4”.
- Obaishi H, Nakanishi H, Mandai K, et al. (1998). „Frabin, a novel FGD1-related actin filament-binding protein capable of changing cell shape and activating c-Jun N-terminal kinase”. J. Biol. Chem. 273 (30): 18697–700. DOI:10.1074/jbc.273.30.18697. PMID 9668039.
- Ikeda W, Nakanishi H, Tanaka Y, et al. (2001). „Cooperation of Cdc42 small G protein-activating and actin filament-binding activities of frabin in microspike formation”. Oncogene 20 (27): 3457–63. DOI:10.1038/sj.onc.1204463. PMID 11429692.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). „Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. DOI:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). „Complete sequencing and characterization of 21,243 full-length human cDNAs”. Nat. Genet. 36 (1): 40–5. DOI:10.1038/ng1285. PMID 14702039.
- Chen XM, Splinter PL, Tietz PS, et al. (2004). „Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42”. J. Biol. Chem. 279 (30): 31671–8. DOI:10.1074/jbc.M401592200. PMID 15133042.
- De Sandre-Giovannoli A, Delague V, Hamadouche T, et al. (2006). „Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11”. J. Med. Genet. 42 (3): 260–5. DOI:10.1136/jmg.2004.024364. PMC 1736004. PMID 15744041.
- Delague V, Jacquier A, Hamadouche T, et al. (2007). „Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H”. Am. J. Hum. Genet. 81 (1): 1–16. DOI:10.1086/518428. PMC 1950914. PMID 17564959.
- Stendel C, Roos A, Deconinck T, et al. (2007). „Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4”. Am. J. Hum. Genet. 81 (1): 158–64. DOI:10.1086/518770. PMC 1950925. PMID 17564972.