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  Domain Name: Rab33B_Rab33A
Rab GTPase family 33 includes Rab33A and Rab33B. Rab33B/Rab33A subfamily. Rab33B is ubiquitously expressed in mouse tissues and cells, where it is localized to the medial Golgi cisternae. It colocalizes with alpha-mannose II. Together with the other cisternal Rabs, Rab6A and Rab6A', it is believed to regulate the Golgi response to stress and is likely a molecular target in stress-activated signaling pathways. Rab33A (previously known as S10) is expressed primarily in the brain and immune system cells. In humans, it is located on the X chromosome at Xq26 and its expression is down-regulated in tuberculosis patients. Experimental evidence suggests that Rab33A is a novel CD8+ T cell factor that likely plays a role in tuberculosis disease processes. 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 facilitate Rab recycling by masking C-terminal lipid binding and promoting cytosolic localization. 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. Due to the presence of truncated sequences in this CD, the lipid modification site is not available for annotation.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 124
Total Disease Mutations Found: 74
This domain occurred 114 times on human genes (200 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)
  CHARCOT-MARIE-TOOTH DISEASE 2B (CMT2B)
  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


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
GTP/Mg2+ binding site
putative GEF interaction
putative GDI interaction
putative effector interac
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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