Rab3 GTPase-activating protein catalytic subunit (RAB3 GTPase-activating protein 130 kD subunit, Rab3-GAP p130, Rab3-GAP, RAB3GAP1, KIAA0066, RAB3GAP)

Function

• catalytic subunit of Rab3 GTPase-activating protein
• converts active Rab3-GTP to the inactive form Rab3-GDP
• required for normal eye & brain development
• neurodevelopmental processes
  • proliferation, migration & differentiation before synapse formation, and nonsynaptic
• vesicular release of neurotransmitters

Kinetic parameters:

• KM=75 uM RAB3A-GTP

Structure

belongs to the Rab3-GAP catalytic subunit family

Compartment

• cytoplasmic
• in neurons, enriched in synaptic soluble fraction

Alternative splicing

named isoforms=2

Expression

ubiquitous

Pathology

• defects in RAB3GAP1 are the cause of Warburg microsyndrome 1.

More general terms

• enzyme catalytic subunit
• phosphoprotein

Additional terms

• Warburg microsyndrome 1 (WARBM1)

Component of

• Rab3 GTPase-activating protein

Database

• OMIM: https://mirror.omim.org/entry/602536
• OMIM: https://mirror.omim.org/entry/600118
• UniProt: http://www.uniprot.org/uniprot/Q15042.html