RAB3GAP1 gene

RAB3 GTPase activating protein catalytic subunit 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

From UniProt:

Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.

From NCBI Gene:

  • Warburg micro syndrome 1

From UniProt:

Warburg micro syndrome 1 (WARBM1): A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. [MIM:600118]

Cytogenetic Location: 2q21.3, which is the long (q) arm of chromosome 2 at position 21.3

Molecular Location: base pairs 135,052,265 to 135,176,667 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q21.3, which is the long (q) arm of chromosome 2 at position 21.3
  • P130
  • RAB3GAP
  • RAB3GAP130
  • WARBM1