[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Testis;
Lu L.,
Huang X.Y.,
Xu M.,
Yin L.L.,
Li J.M.,
Zhou Z.M.,
Sha J.H.;
"Cloning a new transcript of actin-filament binding protein frabin in testis.";
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Testis;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T.,
Suzuki Y.,
Nishikawa T.,
Otsuki T.,
Sugiyama T.,
Irie R.,
Wakamatsu A.,
Hayashi K.,
Sato H.,
Nagai K.,
Kimura K.,
Makita H.,
Sekine M.,
Obayashi M.,
Nishi T.,
Shibahara T.,
Tanaka T.,
Ishii S.,
Yamamoto J., ![]()
Saito K.,
Kawai Y.,
Isono Y.,
Nakamura Y.,
Nagahari K.,
Murakami K.,
Yasuda T.,
Iwayanagi T.,
Wagatsuma M.,
Shiratori A.,
Sudo H.,
Hosoiri T.,
Kaku Y.,
Kodaira H.,
Kondo H.,
Sugawara M.,
Takahashi M.,
Kanda K.,
Yokoi T.,
Furuya T.,
Kikkawa E.,
Omura Y.,
Abe K.,
Kamihara K.,
Katsuta N.,
Sato K.,
Tanikawa M.,
Yamazaki M.,
Ninomiya K.,
Ishibashi T.,
Yamashita H.,
Murakawa K.,
Fujimori K.,
Tanai H.,
Kimata M.,
Watanabe M.,
Hiraoka S.,
Chiba Y.,
Ishida S.,
Ono Y.,
Takiguchi S.,
Watanabe S.,
Yosida M.,
Hotuta T.,
Kusano J.,
Kanehori K.,
Takahashi-Fujii A.,
Hara H.,
Tanase T.-O.,
Nomura Y.,
Togiya S.,
Komai F.,
Hara R.,
Takeuchi K.,
Arita M.,
Imose N.,
Musashino K.,
Yuuki H.,
Oshima A.,
Sasaki N.,
Aotsuka S.,
Yoshikawa Y.,
Matsunawa H.,
Ichihara T.,
Shiohata N.,
Sano S.,
Moriya S.,
Momiyama H.,
Satoh N.,
Takami S.,
Terashima Y.,
Suzuki O.,
Nakagawa S.,
Senoh A.,
Mizoguchi H.,
Goto Y.,
Shimizu F.,
Wakebe H.,
Hishigaki H.,
Watanabe T.,
Sugiyama A.,
Takemoto M.,
Kawakami B.,
Yamazaki M.,
Watanabe K.,
Kumagai A.,
Itakura S.,
Fukuzumi Y.,
Fujimori Y.,
Komiyama M.,
Tashiro H.,
Tanigami A.,
Fujiwara T.,
Ono T.,
Yamada K.,
Fujii Y.,
Ozaki K.,
Hirao M.,
Ohmori Y.,
Kawabata A.,
Hikiji T.,
Kobatake N.,
Inagaki H.,
Ikema Y.,
Okamoto S.,
Okitani R.,
Kawakami T.,
Noguchi S.,
Itoh T.,
Shigeta K.,
Senba T.,
Matsumura K.,
Nakajima Y.,
Mizuno T.,
Morinaga M.,
Sasaki M.,
Togashi T.,
Oyama M.,
Hata H.,
Watanabe M.,
Komatsu T.,
Mizushima-Sugano J.,
Satoh T.,
Shirai Y.,
Takahashi Y.,
Nakagawa K.,
Okumura K.,
Nagase T.,
Nomura N.,
Kikuchi H.,
Masuho Y.,
Yamashita R.,
Nakai K.,
Yada T.,
Nakamura Y.,
Ohara O.,
Isogai T.,
Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Testis;
DOI=10.1186/1471-2164-8-399; PubMed=17974005 [NCBI, ExPASy, EBI, Israel, Japan]
Bechtel S.,
Rosenfelder H.,
Duda A.,
Schmidt C.P.,
Ernst U.,
Wellenreuther R.,
Mehrle A.,
Schuster C.,
Bahr A.,
Blocker H.,
Heubner D.,
Hoerlein A.,
Michel G.,
Wedler H.,
Kohrer K.,
Ottenwalder B.,
Poustka A.,
Wiemann S.,
Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
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[4]
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FUNCTION.
DOI=10.1074/jbc.M401592200; PubMed=15133042 [NCBI, ExPASy, EBI, Israel, Japan]
Chen X.M.,
Splinter P.L.,
Tietz P.S.,
Huang B.Q.,
Billadeau D.D.,
LaRusso N.F.;
"Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42.";
J. Biol. Chem. 279:31671-31678(2004).
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[5]
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VARIANT CMT4H THR-298, VARIANT ARG-298, TISSUE SPECIFICITY, AND ALTERNATIVE SPLICING.
DOI=10.1086/518428; PubMed=17564959 [NCBI, ExPASy, EBI, Israel, Japan]
Delague V.,
Jacquier A.,
Hamadouche T.,
Poitelon Y.,
Baudot C.,
Boccaccio I.,
Chouery E.,
Chaouch M.,
Kassouri N.,
Jabbour R.,
Grid D.,
Megarbane A.,
Haase G.,
Levy N.;
"Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.";
Am. J. Hum. Genet. 81:1-16(2007).
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[6]
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INVOLVEMENT IN CMT4H, AND VARIANT ARG-298.
DOI=10.1086/518770; PubMed=17564972 [NCBI, ExPASy, EBI, Israel, Japan]
Stendel C.,
Roos A.,
Deconinck T.,
Pereira J.,
Castagner F.,
Niemann A.,
Kirschner J.,
Korinthenberg R.,
Ketelsen U.-P.,
Battaloglu E.,
Parman Y.,
Nicholson G.,
Ouvrier R.,
Seeger J.,
De Jonghe P.,
Weis J.,
Kruettgen A.,
Rudnik-Schoeneborn S.,
Bergmann C., ![]()
Suter U.,
Zerres K.,
Timmerman V.,
Relvas J.B.,
Senderek J.;
"Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.";
Am. J. Hum. Genet. 81:158-164(2007).
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- FUNCTION: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity).
- SUBUNIT: Homooligomer (By similarity).
- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cell projection, filopodium (By similarity). Note=Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By similarity).
- ALTERNATIVE PRODUCTS:
3 named isoforms [FASTA] produced by alternative splicing. Additional isoforms seem to exist.
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| Name | 2 |
| Isoform ID | Q96M96-2 |
| Note: No experimental confirmation available. |
| Features which should be applied to build the isoform sequence: VSP_013078, VSP_013082. |
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- TISSUE SPECIFICITY: Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.
- DOMAIN: The part of the protein spanning the actin filament-binding domain together with the DH domain and the first PH domain is necessary and sufficient for microspike formation. Activation of MAPK8 requires the presence of all domains with the exception of the actin filament-binding domain (By similarity).
- DISEASE: Defects in FGD4 are the cause of Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311]; also known as Charcot-Marie-Tooth disease neuropathy type 4H. CMT4H is a recessive demyelinating form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
- SIMILARITY: Contains 1 DH (DBL-homology) domain.
- SIMILARITY: Contains 1 FYVE-type zinc finger.
- SIMILARITY: Contains 2 PH domains.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=FGD4";.
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