RAB8A

Description

The RAB8A (RAB8A, member RAS oncogene family) is a protein-coding gene located on chromosome 19.

Ras-related protein Rab-8A is a protein that in humans is encoded by the RAB8A gene.

== Function == The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrated. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1.

== Interactions == RAB8A has been shown to interact with Optineurin and MAP4K2.

RAB8A, also known as Oncogene c-mel, is a small GTPase that plays a crucial role in regulating intracellular membrane trafficking. It cycles between an inactive GDP-bound form and an active GTP-bound form, which recruits downstream effectors responsible for vesicle formation, movement, tethering, and fusion. RAB8A is involved in polarized vesicular trafficking and neurotransmitter release. In collaboration with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42, and DNMBP, it promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation, and lumenogenesis. RAB8A also regulates the compacted morphology of the Golgi and, together with MYO5B and RAB11A, participates in epithelial cell polarization. Additionally, it plays a role in membrane trafficking to the cilium and ciliogenesis. With MICALL2, RAB8A may also regulate adherens junction assembly. It potentially contributes to insulin-induced transport of the glucose transporter GLUT4 to the plasma membrane, thereby playing a role in glucose homeostasis. RAB8A is involved in autophagy and participates in the export of a subset of newly synthesized proteins through a Rab8-Rab10-Rab11-dependent endososomal export route. {ECO:0000250|UniProtKB:P35280, ECO:0000250|UniProtKB:P55258, ECO:0000269|PubMed:20890297, ECO:0000269|PubMed:21282656, ECO:0000269|PubMed:21844891, ECO:0000269|PubMed:26209634, ECO:0000269|PubMed:27103069, ECO:0000269|PubMed:30398148, ECO:0000269|PubMed:32344433}.

RAB8A is also known as MEL, RAB8.

Associated Diseases

WES Whole Exome Sequencing