RAB23
Function
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes.
Involvement in disease
Carpenter syndrome 1
CRPT1
A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; intellectual disability; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the small GTPase superfamily. Rab family.
Cellular localization
- Cell membrane
- Lipid-anchor
- Cytoplasmic side
- Cytoplasm
- Cytoplasmic vesicle
- Autophagosome
- Endosome membrane
- Cytoplasmic vesicle
- Phagosome
- Cytoplasmic vesicle
- Phagosome membrane
- Lipid-anchor
- Cytoplasmic side
- Recruited to phagosomes containing S.aureus or M.tuberculosis.
Alternative names
HSPC137, RAB23, Ras-related protein Rab-23