Aliases for RAB6A Gene
External Ids for RAB6A Gene
Previous HGNC Symbols for RAB6A Gene
Previous GeneCards Identifiers for RAB6A Gene
This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
GeneCards Summary for RAB6A Gene
RAB6A (RAB6A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB6A include Proximal Spinal Muscular Atrophy and Deafness, Autosomal Recessive 63. Among its related pathways are Pre-NOTCH Expression and Processing and RAB geranylgeranylation. GO annotations related to this gene include GTP binding and protein domain specific binding. An important paralog of this gene is RAB6C.
UniProtKB/Swiss-Prot for RAB6A Gene
Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic reticulum (ER). Has a low GTPase activity. Involved in COPI-independent retrograde transport from the Golgi to the ER (PubMed:25962623).