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  Domain Name: H_N_K_Ras_like
Ras GTPase family containing H-Ras,N-Ras and K-Ras4A/4B. H-Ras/N-Ras/K-Ras subfamily. H-Ras, N-Ras, and K-Ras4A/4B are the prototypical members of the Ras family. These isoforms generate distinct signal outputs despite interacting with a common set of activators and effectors, and are strongly associated with oncogenic progression in tumor initiation. Mutated versions of Ras that are insensitive to GAP stimulation (and are therefore constitutively active) are found in a significant fraction of human cancers. Many Ras guanine nucleotide exchange factors (GEFs) have been identified. They are sequestered in the cytosol until activation by growth factors triggers recruitment to the plasma membrane or Golgi, where the GEF colocalizes with Ras. Active (GTP-bound) Ras interacts with several effector proteins that stimulate a variety of diverse cytoplasmic signaling activities. Some are known to positively mediate the oncogenic properties of Ras, including Raf, phosphatidylinositol 3-kinase (PI3K), RalGEFs, and Tiam1. Others are proposed to play negative regulatory roles in oncogenesis, including RASSF and NORE/MST1. Most Ras 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 Ras 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: 119
Total Disease Mutations Found: 70
This domain occurred 112 times on human genes (202 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
  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
GEF interaction site
effector interaction site
putative GDI interaction
Switch I region
Switch II region
G1 box
G2 box
G3 box
G4 box
G5 box












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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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