The RAP1A gene (RAP1A stands for: Ras-Related Protein-1A) is a protein-coding gene located on chromosome 1p13.2. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing leads to several transcript variants. An important paralog of this gene is RAP1B.
RAP1A gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The RAP1A gene encodes a member of the Ras family of small GTPases. The encoded protein changes its conformational state and activity depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs) and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore influenced by the balance of intracellular concentrations of GEFs and GAPs. The encoded protein regulates signaling pathways that influence cell proliferation and adhesion and may play a role in oncogenesis.
Diseases associated with RAP1A include:
and
Immunodeficiency-54.
PathophysiologyThis section has been translated automatically.
The protein of the same name encoded by the RAP1A gene induces morphological reversion of a cell line transformed by a Ras oncogene. RAP1A counteracts the mitogenic function of Ras, at least in part, because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates the localization of KRIT1 to microtubules and membranes. RAP1A plays a role in nerve growth factor (NGF)-induced neurite outgrowth. The protein plays a role in the regulation of embryonic blood vessel formation and is involved in the establishment of the basal endothelial barrier function. It may be involved in regulating the expression of the vascular endothelial growth factor receptor KDR at endothelial cell-cell junctions.
LiteratureThis section has been translated automatically.
- Curatolo P et al (2008) Tuberous sclerosis. Lancet 372:657-668.
- Cao J et al. (2017) Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation. J Clin Invest 127:349-364.
- Jimbow K (1997) Tuberous sclerosis and guttate leukodermas. Semin Cutan Med Surg 16:30-35.
- Lai Y et al. (2024) A Novel TSC2 c.2489T>C Missense Variant Associated With Tuberous Sclerosis Complex: Case Report. Neurol Genet 10:e200127.
- Møller LB et al. (2017) Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex. Mol Genet Metab 120:384-391.
- Woodford MR et al. (2017) Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients. EMBO J 36:3650-3665.