This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Function:
Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis.
Subunit:
Homooligomer; forms cytoplasmic aggregates. Forms a complex with MAPK8 and MAPK8IP1. Interacts with RHOA. Interacts with microtubules. Interacts with YWHAE and YWHAH. Interacts with PTK2/FAK1. Interacts with NEFL (By similarity). Interacts with CTNND2; prevents interaction with RHOA.
Subcellular Location:
Cytoplasm. Cell membrane. Colocalizes with the microtubule radial and cortical systems.
Post-translational modifications:
Phosphorylated on tyrosine upon stimulation of cells by laminin.
Similarity:
Contains 1 DH (DBL-homology) domain.
Contains 1 PH domain.
Contains 1 phorbol-ester/DAG-type zinc finger.
SWISS:
Q8N1W1
Gene ID:
64283
Database links:
Entrez Gene: 64283 Human
Omim: 612790 Human
SwissProt: Q8N1W1 Human
Unigene: 482521 Human
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