Results for cd01871

Domain Name: Rac1_like

Ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)-like consists of Rac1, Rac2 and Rac3. The Rac1-like subfamily consists of Rac1, Rac2, and Rac3 proteins, plus the splice variant Rac1b that contains a 19-residue insertion near switch II relative to Rac1. While Rac1 is ubiquitously expressed, Rac2 and Rac3 are largely restricted to hematopoietic and neural tissues respectively. Rac1 stimulates the formation of actin lamellipodia and membrane ruffles. It also plays a role in cell-matrix adhesion and cell anoikis. In intestinal epithelial cells, Rac1 is an important regulator of migration and mediates apoptosis. Rac1 is also essential for RhoA-regulated actin stress fiber and focal adhesion complex formation. In leukocytes, Rac1 and Rac2 have distinct roles in regulating cell morphology, migration, and invasion, but are not essential for macrophage migration or chemotaxis. Rac3 has biochemical properties that are closely related to Rac1, such as effector interaction, nucleotide binding, and hydrolysis; Rac2 has a slower nucleotide association and is more efficiently activated by the RacGEF Tiam1. Both Rac1 and Rac3 have been implicated in the regulation of cell migration and invasion in human metastatic breast cancer. 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. 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: 121
Total Disease Mutations Found: 75
This domain occurred 102 times on human genes (178 proteins).

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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

CDD (NCBI), PDB