FGD4

From Wikipedia, the free encyclopedia

FYVE, RhoGEF and PH domain containing 4

Identifiers

FGD4; DKFZp313E1818; FRABIN; FRABP; MGC57222; ZFYVE6

External IDs

Gene ontology
Molecular Function:	• actin binding • guanyl-nucleotide exchange factor activity • Rho guanyl-nucleotide exchange factor activity • protein binding • zinc ion binding • small GTPase binding • metal ion binding
Cellular Component:	• ruffle • intracellular • cytoplasm • Golgi apparatus • cytoskeleton • lamellipodium • filopodium
Biological Process:	• cytoskeleton organization and biogenesis • regulation of cell shape • lamellipodium biogenesis • actin cytoskeleton organization and biogenesis • regulation of Rho protein signal transduction • regulation of Cdc42 GTPase activity • filopodium formation

Orthologs

Human

Mouse

Refseq

NM_139241 (mRNA)
NP_640334 (protein)

NM_139232 (mRNA)
NP_631978 (protein)

Location

Chr 12: 32.55 - 32.68 Mb

Chr 16: 16.34 - 16.51 Mb

Pubmed search

[1]

[2]

FYVE, RhoGEF and PH domain containing 4, also known as FGD4, is a human gene.^[1]

[edit] References

^ Entrez Gene: FGD4 FYVE, RhoGEF and PH domain containing 4.

[edit] Further reading

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. 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.
Ikeda W, Nakanishi H, Takekuni K, et al. (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.
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. 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. 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. 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. PMID 17564972.