Home News About DMDM Database Statistics Research Publications Contact  

 
  Domain Name: Rho
Ras homology family (Rho) of small guanosine triphosphatases (GTPases). Members of the Rho (Ras homology) family include RhoA, Cdc42, Rac, Rnd, Wrch1, RhoBTB, and Rop. There are 22 human Rho family members identified currently. These proteins are all involved in the reorganization of the actin cytoskeleton in response to external stimuli. They also have roles in cell transformation by Ras in cytokinesis, in focal adhesion formation and in the stimulation of stress-activated kinase. These various functions are controlled through distinct effector proteins and mediated through a GTP-binding/GTPase cycle involving three classes of regulating proteins: GAPs (GTPase-activating proteins), GEFs (guanine nucleotide exchange factors), and GDIs (guanine nucleotide dissociation inhibitors). Most Rho proteins contain a lipid modification site at the C-terminus, with a typical sequence motif CaaX, where a = an aliphatic amino acid and X = any amino acid. Lipid binding is essential for membrane attachment, a key feature of most Rho proteins. Since crystal structures often lack C-terminal residues, this feature is not available for annotation in many of the CDs in the hierarchy.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 119
Total Disease Mutations Found: 69
This domain occurred 117 times on human genes (211 proteins).



  AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
  BLADDER CANCER, SOMATIC
  BLADDER CANCER, SOMATIC, INCLUDED
  BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
  BREAST ADENOCARCINOMA, SOMATIC
  CARDIOFACIOCUTANEOUS SYNDROME 2
  CARDIOFACIOCUTANEOUS SYNDROME 2 (CFC2)
  CONE-ROD DYSTROPHY 18
  COSTELLO SYNDROME
  COSTELLO SYNDROME, INCLUDED;;
  COSTELLO SYNDROME, SEVERE
  EPIDERMAL NEVUS WITH UROTHELIAL CAN
  EPIDERMAL NEVUS, SOMATIC
  EPIDERMAL NEVUS, SOMATIC, INCLUDED
  EPIDERMAL NEVUS, SOMATIC, INCLUDED;;
  FACIOCUTANEOSKELETAL SYNDROME (FCSS)
  GASTRIC CANCER, SOMATIC
  GASTRIC CANCER, SOMATIC, INCLUDED;;
  GRISCELLI SYNDROME, TYPE 2
  JUVENILE MYELOMONOCYTIC LEUKEMIA, INCLUDED;;
  LUNG CANCER, SOMATIC
  LUNG CANCER, SQUAMOUS CELL, SOMATIC
  MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE
  MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
  MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED;;
  NEUTROPHIL IMMUNODEFICIENCY SYNDROME
  NEVUS SEBACEOU
  NEVUS SEBACEOUS, SOMATIC
  NEVUS SEBACEOUS, SOMATIC, INCLUDED
  NEVUS SEBACEOUS, SOMATIC, INCLUDED;;
  NOONAN SYNDROME 3
  NOONAN SYNDROME 6
  NOONAN SYNDROME 6, INCLU
  NOONAN SYNDROME 8
  OVARIAN CANCER, SOMATIC
  PANCREATIC CARCINOMA, SOMATIC
  PILOCYTIC ASTROCYTOMA, SOMATIC
  RECTAL CANCER, SOMATIC
  SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, INCLUDED;;
  SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED
  THYROID CARCINOMA, FOLLICULAR, SOMATIC
  WARBURG MICRO SYNDROME 3


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
GTP/Mg2+ binding site
GAP (GTPase-activating pr
GEF (guanine nucleotide e
GDI (guanine nucleotide d
effector interaction site
Switch I region
Switch II region
G1 box
G2 box
G3 box
G4 box
G5 box
















Weblogos are Copyright (c) 2002 Regents of the University of California




Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258