FGD1
FYVE, RhoGEF and PH domain-containing protein 1 (FGD1) also known as faciogenital dysplasia 1 protein (FGDY), zinc finger FYVE domain-containing protein 3 (ZFYVE3), or Rho/Rac guanine nucleotide exchange factor FGD1 (Rho/Rac GEF) is a protein that in humans is encoded by the "FGD1" gene that lies on the X chromosome. Orthologs of the "FGD1" gene are found in dog, cow, mouse, rat, and zebrafish, and also budding yeast and "C. elegans". It is a member of the FYVE, RhoGEF and PH domain containing family.

FGD1 is a guanine-nucleotide exchange factor (GEF) that can activate the Rho GTPase Cdc42. It localizes preferentially to the trans-Golgi network (TGN) of mammalian cells and regulates, for example, the secretory transport of bone-specific proteins from the Golgi complex. Thus Cdc42 and FGD1 regulate secretory membrane trafficking that occurs especially during bone growth and mineralization in humans. FGD1 promotes nucleotide exchange on the GTPase Cdc42, a key player in the establishment of cell polarity in all eukaryotic cells. The GEF activity of FGD1, which activates Cdc42, is harbored in its DH domain and causes the formation of filopodia, enabling the cells to migrate. FGD1 also activates the c-Jun N-terminal kinase (JNK) signaling cascade, important in cell differentiation and apoptosis. It also promotes the transition through G1 during the cell cycle and causes tumorgenic transformation of NIH/3T3 fibroblasts.

The FGD1 gene is located on the short arm of the X-chromosome and is essential for normal mammalian embryonic development. Mice embryos that carried experimentally introduced mutations in the FGD1 gene had skeletal abnormalities affecting bone size, cartilage growth, vertebrae formation and distal extremities. These severe phenotypes are consistent with a lack of Cdc42 activity, as it controls membrane traffic as well as the organization of the actin cytoskeleton. Mutations in the "FGD1" gene that cause the production of non-functional proteins are responsible for the severe phenotype of the X-linked disorder faciogenital dysplasia (FGDY), also called Aarskog-Scott syndrome.
Q8054
protein
Concept
Q7187
gene
Concept
None
Orthologs
UNK
Q91703
C. elegans
Concept
Q5427429
FYVE, RhoGEF and PH domain containing
UNK
Q901088
guanine-nucleotide exchange factor
UNK
Q15311701
Cdc42
UNK
Q83181
trans-Golgi network
Concept
Q19088
eukaryotic
Concept
Q7320800
DH domain
Concept
Q14859810
filopodia
UNK
Q24774703
c-Jun N-terminal kinase
Concept
Q68153243
3T3
Concept
Q303123
faciogenital dysplasia
Concept
Q303123
Aarskog-Scott syndrome
Concept
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
Q15311768
FGD1
MISC
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+42^^http://www.w3.org/2001/XMLSchema#decimal
42
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+42^^http://www.w3.org/2001/XMLSchema#decimal
42
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42
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+42^^http://www.w3.org/2001/XMLSchema#decimal
42
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42
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1
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instance of
genetic association
encodes
instance of
instance of
genetic association
genetic association