RAB23

This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Full Name

RAB23, Member RAS Oncogene Family

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.

Biological Process

Biological Process autophagosome assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process cellular defense responseManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process cilium assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process craniofacial suture morphogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process GTP metabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process intracellular protein transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of protein import into nucleusManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cell membrane
Cytoplasm
Cytoplasmic vesicle, autophagosome
Endosome membrane
Cytoplasmic vesicle, phagosome
Cytoplasmic vesicle, phagosome membrane
Recruited to phagosomes containing S.aureus or M.tuberculosis.

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.