DISEASES

Disease-gene associations mined from literature

Literature on RAB1A

RAB1A [ENSP00000387286]

Ras-related protein Rab-1A; 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 sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1A regulates vesicular protein transport from the endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and growth hormone secretion. Regulates the level of CASR present at the cell membrane. Plays a role in cell adhesion and cell migration, via its role in protein trafficking. Plays a role in autophagosome assembly and cellular defense reactions against pathogenic bacteria. Plays a role in microtubule-dependent protein transport by early endosomes and in anterograde melanosome transport. ECO:0000269|PubMed:20861236, ECO:0000269|PubMed:21303926,

Synonyms:  RAB1A,  RAB1Ap,  hRAB1A,  E7END7,  P62820 ...

Linkouts:  STRING  Pharos  UniProt  OMIM