Regulating synaptic membrane exocytosis protein 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''RIMS1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
RAB3A (MIM 179490), a member of the
Ras superfamily
The Ras superfamily, derived from "Rat sarcoma virus", is a protein superfamily of small GTPases. Members of the superfamily are divided into families and subfamilies based on their structure, sequence and function. The five main families are Ra ...
of genes, is a synaptic vesicle protein that regulates synaptic vesicle exocytosis. MUNC13 (UNC13; MIM 605836) and its isoforms are required for priming synaptic vesicles for exocytosis. The RIM family of
active zone proteins likely function as protein scaffolds that help regulate vesicle exocytosis during short-term plasticity.
upplied by OMIMref name="entrez"/>
Clinical significance
Mutations of the gene cause
cone-rod dystrophy 7.
Interactions
RIMS1 has been shown to
interact with:
*
ERC2,
UNC13A
Unc-13 homolog A (''C. elegans'') is a protein that in humans is encoded by the UNC13A gene.
Function
This gene encodes a member of the UNC13 family. UNC13A plays a role in vesicle maturation during exocytosis as a target of the diacylglycero ...
,YWHAH
14-3-3 protein eta also referred to as 14-3-3η is a protein that in humans is encoded by the ''YWHAH'' gene.
Function
This gene product belongs to the 14-3-3 family of proteins that are normally intracellular in nature and help to mediate si ...
.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
{{Gene-6-stub