Version: 8.0.0Date: Tue Jan 28 2025
Gene
Erc1
- Species
- Mus musculus
- Symbol
- Erc1
- Name
- ELKS/RAB6-interacting/CAST family member 1
- Synonyms
- 5033405M01Rik
- 9630025C19Rik
- Biotype
- protein coding gene
- Automated Description
- Enables small GTPase binding activity. A structural constituent of presynaptic active zone. Involved in regulation of calcium-dependent activation of synaptic vesicle fusion; regulation of presynaptic cytosolic calcium ion concentration; and synaptic vesicle priming. Acts upstream of or within retrograde transport, endosome to Golgi. Located in cytoplasm; podosome; and synapse. Is active in GABA-ergic synapse; glutamatergic synapse; and presynaptic cytosol. Is expressed in several structures, including genitourinary system; gut gland; oral epithelium; retina; and telencephalon. Orthologous to human ERC1 (ELKS/RAB6-interacting/CAST family member 1).
- MGI Description
- PHENOTYPE: Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females. [provided by MGI curators]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR18861
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Gene | Association | Disease Qualifier | Disease | Evidence | Source | Based On | References |
|---|---|---|---|---|---|---|---|
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Sequence Feature Viewer
- Genome location
- Chr6:119547757...119825128 - (277.37 kb)
- Assembly version
- GRCm39
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