RIMS1 gene

regulating synaptic membrane exocytosis 1

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

From NCBI Gene:

The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]

From UniProt:

Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cone-rod dystrophy 7

From UniProt:

Cone-rod dystrophy 7 (CORD7): An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. [MIM:603649]

Cytogenetic Location: 6q12-q13, which is the long (q) arm of chromosome 6 between positions 12 and 13

Molecular Location: base pairs 71,886,703 to 72,403,143 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q12-q13, which is the long (q) arm of chromosome 6 between positions 12 and 13
  • CORD7
  • RAB3IP2
  • RIM
  • RIM1