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  Domain Name: Rab
Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases). Rab GTPases form the largest family within the Ras superfamily. There are at least 60 Rab genes in the human genome, and a number of Rab GTPases are conserved from yeast to humans. Rab GTPases are small, monomeric proteins that function as molecular switches to regulate vesicle trafficking pathways. The different Rab GTPases are localized to the cytosolic face of specific intracellular membranes, where they regulate distinct steps in membrane traffic pathways. In the GTP-bound form, Rab GTPases recruit specific sets of effector proteins onto membranes. Through their effectors, Rab GTPases regulate vesicle formation, actin- and tubulin-dependent vesicle movement, and membrane fusion. GTPase activating proteins (GAPs) interact with GTP-bound Rab and accelerate the hydrolysis of GTP to GDP. Guanine nucleotide exchange factors (GEFs) interact with GDP-bound Rabs to promote the formation of the GTP-bound state. Rabs are further regulated by guanine nucleotide dissociation inhibitors (GDIs), which mask C-terminal lipid binding and promote cytosolic localization. While most unicellular organisms possess 5-20 Rab members, several have been found to possess 60 or more Rabs; for many of these Rab isoforms, homologous proteins are not found in other organisms. Most Rab GTPases contain a lipid modification site at the C-terminus, with sequence motifs CC, CXC, or CCX. Lipid binding is essential for membrane attachment, a key feature of most Rab proteins. Since crystal structures often lack C-terminal residues, the lipid modification site is not available for annotation in many of the CDs in the hierarchy, but is included where possible.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 131
Total Disease Mutations Found: 71
This domain occurred 144 times on human genes (258 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
  PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
  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:
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 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
effector interaction site
GDI interaction site
GEF interaction site
Switch I region
Switch II region
G1 box
G2 box
G3 box
G4 box
G5 box
Rab family motif 1 (RabF1
Rab family motif 2 (RabF2
Rab family motif 3 (RabF3
Rab family motif 4 (RabF4
Rab family motif 5 (RabF5
Rab subfamily motif 1 (Ra
Rab subfamily motif 2 (Ra
Rab subfamily motif 3 (Ra
Rab subfamily motif 4 (Ra



















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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.

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