Hmdb loader
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Identification
HMDB Protein ID HMDBP08393
Secondary Accession Numbers
  • 14105
Name FYVE, RhoGEF and PH domain-containing protein 4
Synonyms
  1. Actin filament-binding protein frabin
  2. FGD1-related F-actin-binding protein
  3. Zinc finger FYVE domain-containing protein 6
Gene Name FGD4
Protein Type Unknown
Biological Properties
General Function Involved in Rho guanyl-nucleotide exchange factor activity
Specific 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
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
intracellular
Function
small gtpase regulator activity
ion binding
cation binding
metal ion binding
binding
ras guanyl-nucleotide exchange factor activity
rho guanyl-nucleotide exchange factor activity
transition metal ion binding
zinc ion binding
enzyme regulator activity
nucleoside-triphosphatase regulator activity
gtpase regulator activity
Process
regulation of ras protein signal transduction
regulation of rho protein signal transduction
biological regulation
regulation of biological process
regulation of cellular process
regulation of cell communication
regulation of signal transduction
regulation of small gtpase mediated signal transduction
Cellular Location
  1. Cytoplasm
  2. cytoskeleton
  3. Cell projection
  4. filopodium
Gene Properties
Chromosome Location Chromosome:1
Locus 12p11.21
SNPs FGD4
Gene Sequence
>2301 bp
ATGGAGGAAATTAAACCTGCCTCTGCTTCTTGTGTCTCAAAAGAAAAACCCAGTAAGGTA
TCAGATCTCATCAGTCGCTTTGAAGGAGGCAGCTCATTATCAAATTATAGTGATTTGAAG
AAAGAGTCTGCTGTGAACCTAAATGCTCCTAGAACCCCAGGAAGGCATGGATTGACAACC
ACACCTCAACAAAAACTCCTCTCCCAGCACTTGCCACAGAGGCAGGGAAATGATGCAGAT
AAGACTCAGGGTGCACAGACTTGTGTGGCCAACGGTGTAATGGCAGCACAAAACCAGATG
GAATGTGAGGAGGAGAAAGCTGCCACTCTTAGCTCAGATACTTCTATTCAAGCTTCTGAA
CCCTTGCTTGATACGCACATAGTGAATGGAGAAAGAGATGAAACTGCCACAGCTCCTGCA
TCACCCACAACAGATAGCTGTGATGGAAATGCTTCTGACAGTAGCTACAGGACTCCAGGC
ATAGGCCCAGTGCTCCCCCTAGAAGAAAGAGGGGCAGAAACAGAAACCAAGGTACAAGAG
AGGGAAAATGGGGAAAGCCCTCTGGAACTGGAGCAGCTGGACCAGCACCATGAGATGAAG
GAGACTAATGAGCAAAAACTTCACAAAATAGCCAATGAACTTTTGCTTACTGAAAGAGCT
TATGTCAACCGACTTGACCTCTTAGATCAGGTATTTTATTGCAAACTGTTGGAAGAAGCA
AACCGAGGCTCGTTTCCAGCAGAGATGGTGAATAAAATCTTTTCCAATATTTCATCAATA
AATGCCTTCCATAGTAAATTCCTCTTGCCAGAGCTGGAGAAACGAATGCAAGAATGGGAA
ACTACTCCTAGAATTGGAGACATCCTTCAGAAATTGGCACCATTCCTTAAGATGTATGGA
GAATATGTGAAAGGATTTGATAATGCAATGGAATTGGTTAAAAACATGACAGAACGTATT
CCCCAGTTCAAATCAGTGGTTGAAGAAATTCAGAAACAGAAAATCTGTGGGAGCTTAACT
TTGCAGCATCACATGCTAGAACCTGTTCAGCGGATTCCCCGGTATGAGATGCTCCTTAAG
GACTATCTAAGGAAATTGCCTCCTGATTCCCTGGACTGGAATGATGCTAAAAAATCACTT
GAAATTATATCTACAGCAGCAAGCCATTCTAATAGTGCAATAAGGAAAATGGAGAACCTA
AAGAAACTCTTAGAGATTTATGAAATGTTGGGAGAAGAAGAAGACATTGTAAACCCTTCA
AATGAACTAATAAAAGAAGGACAGATCCTCAAACTAGCTGCTCGGAACACTTCAGCACAA
GAACGCTACCTTTTCTTATTCAACAACATGTTGCTGTACTGTGTGCCCAAATTCAGCTTG
GTAGGCTCTAAATTCACAGTTCGAACCAGGGTTGGCATTGATGGAATGAAAATTGTAGAG
ACTCAAAATGAAGAATATCCACATACTTTCCAGGTGTCTGGGAAAGAGAGAACACTGGAA
CTGCAGGCCAGTTCTGCGCAAGACAAAGAAGAATGGATCAAGGCCCTTCAAGAAACCATC
GATGCTTTTCATCAAAGGCATGAAACCTTCAGAAATGCAATTGCAAAGGATAATGACATT
CACTCAGAGGTTTCTACTGCTGAGCTAGGGAAAAGAGCCCCAAGATGGATCCGAGATAAT
GAAGTGACAATGTGTATGAAATGTAAAGAACCTTTCAATGCACTGACACGAAGGAGGCAT
CATTGTCGAGCATGTGGATATGTGGTTTGTTGGAAATGCTCCGACTACAAAGCTCAACTT
GAATATGATGGTGGTAAATTGAGCAAAGTTTGTAAAGACTGTTATCAAATCATAAGTGGA
TTCACAGACAGTGAAGAAAAGAAAAGAAAAGGAATTTTAGAGATTGAATCAGCAGAAGTA
TCTGGAAACAGTGTGGTGTGCAGCTTTCTTCAGTATATGGAGAAGTCAAAACCTTGGCAG
AAAGCTTGGTGTGTGATCCCCAAGCAAGACCCTCTTGTGCTGTACATGTATGGTGCCCCC
CAGGACGTCAGAGCCCAGGCCACCATTCCACTTCTGGGCTATGTGGTGGATGAAATGCCA
AGGAGCGCAGACCTGCCACACAGTTTCAAACTGACCCAGTCTAAGTCCGTGCACAGCTTT
GCTGCAGACAGTGAGGAACTGAAGCAGAAGTGGCTGAAAGTCATCCTTTTAGCTGTCACA
GGTGAGACACCAGGTGGTCCAAATGAGCATCCAGCCACCTTGGATGATCATCCTGAACCT
AAGAAAAAATCAGAATGCTGA
Protein Properties
Number of Residues 766
Molecular Weight 86625.6
Theoretical pI 6.03
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>FYVE, RhoGEF and PH domain-containing protein 4
MEEIKPASASCVSKEKPSKVSDLISRFEGGSSLSNYSDLKKESAVNLNAPRTPGRHGLTT
TPQQKLLSQHLPQRQGNDTDKTQGAQTCVANGVMAAQNQMECEEEKAATLSSDTSIQASE
PLLDTHIVNGERDETATAPASPTTDSCDGNASDSSYRTPGIGPVLPLEERGAETETKVQE
RENGESPLELEQLDQHHEMKETNEQKLHKIANELLLTERAYVNRLDLLDQVFYCKLLEEA
NRGSFPAEMVNKIFSNISSINAFHSKFLLPELEKRMQEWETTPRIGDILQKLAPFLKMYG
EYVKGFDNAMELVKNMTERIPQFKSVVEEIQKQKICGSLTLQHHMLEPVQRIPRYEMLLK
DYLRKLPPDSLDWNDAKKSLEIISTAASHSNSAIRKMENLKKLLEIYEMLGEEEDIVNPS
NELIKEGQILKLAARNTSAQERYLFLFNNMLLYCVPKFSLVGSKFTVRTRVGIDGMKIVE
TQNEEYPHTFQVSGKERTLELQASSAQDKEEWIKALQETIDAFHQRHETFRNAIAKDNDI
HSEVSTAELGKRAPRWIRDNEVTMCMKCKEPFNALTRRRHHCRACGYVVCWKCSDYKAQL
EYDGGKLSKVCKDCYQIISGFTDSEEKKRKGILEIESAEVSGNSVVCSFLQYMEKSKPWQ
KAWCVIPKQDPLVLYMYGAPQDVRAQATIPLLGYVVDEMPRSADLPHSFKLTQSKSVHSF
AADSEELKQKWLKVILLAVTGETPGGPNEHPATLDDHPEPKKKSEC
GenBank ID Protein 16552927
UniProtKB/Swiss-Prot ID Q96M96
UniProtKB/Swiss-Prot Entry Name FGD4_HUMAN
PDB IDs Not Available
GenBank Gene ID AK057294
GeneCard ID FGD4
GenAtlas ID FGD4
HGNC ID HGNC:19125
References
General References
  1. 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 TO, 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. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  2. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, 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. 2007 Oct 31;8:399. [PubMed:17974005 ]
  3. Chen XM, Splinter PL, Tietz PS, Huang BQ, Billadeau DD, LaRusso NF: Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42. J Biol Chem. 2004 Jul 23;279(30):31671-8. Epub 2004 May 7. [PubMed:15133042 ]
  4. 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. 2007 Jul;81(1):1-16. Epub 2007 May 15. [PubMed:17564959 ]
  5. Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Kruttgen A, Rudnik-Schoneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J: Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet. 2007 Jul;81(1):158-64. Epub 2007 May 24. [PubMed:17564972 ]