ERC1 Gene: ELKS/RAB6-Interacting/CAST Family Member 1
Comprehensive genomic and functional analysis of ERC1, a key regulator of neurotransmitter release and vesicle trafficking.
Gene Information Card
| Symbol | ERC1 |
|---|---|
| Full Name | ELKS/RAB6-Interacting/CAST Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 23085 ncbi.nlm.nih.gov/gene/23085 |
| Ensembl ID | ENSG00000110799 |
| UniProt ID | Q8IUD2 |
| OMIM ID | 607064 |
| HGNC ID | 29187 |
| Aliases | ELKS, CAST2, ERC-1, RAB6IP2 |
Description
ERC1 encodes a member of the ELKS/RAB6-interacting/CAST family of proteins. It is a scaffolding protein that localizes to the active zone of presynaptic terminals and regulates neurotransmitter release by tethering synaptic vesicles and organizing calcium channels. ERC1 also interacts with RAB6 and is involved in vesicle trafficking and exocytosis. Alternative splicing generates multiple isoforms with distinct functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Papillary thyroid carcinoma | Gene fusions involving ERC1 (e.g., ERC1-RET) lead to constitutive activation of RET kinase, promoting oncogenesis. | PMID: 15696205; COSMIC |
| Intellectual disability | De novo missense variants in ERC1 are associated with neurodevelopmental delay and intellectual disability. | ClinVar; PMID: 28135719 |
| Schizophrenia | Genetic association studies implicate ERC1 variants in susceptibility to schizophrenia. | PMID: 21926972 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Testis | 8.7 | Medium |
| Adrenal gland | 6.4 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.5 | Neuronal model |
| HeLa (cervical carcinoma) | 7.3 | Epithelial |
| HEK293 (embryonic kidney) | 6.8 | Common cell line |
| A549 (lung carcinoma) | 4.2 | Lung epithelial |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2053C>T (p.Arg685Trp) | Missense | Rare | Loss of function; impaired synaptic vesicle clustering |
| c.2872G>A (p.Gly958Arg) | Missense | Rare | Unknown; associated with intellectual disability |
| ERC1-RET fusion | Gene fusion | Recurrent in papillary thyroid carcinoma | Gain of function; constitutive RET activation |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg685Trp) disrupt protein-protein interactions at the active zone, reducing neurotransmitter release.
Gain of Function (GOF)
ERC1-RET fusions result in constitutive kinase activity of RET, driving oncogenic signaling.
Dominant Negative (DN)
Not reported for ERC1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Synaptic vesicle cycle (R-HSA-421837)
• Neurotransmitter release cycle (R-HSA-112310)
• RAB6-mediated vesicle transport (R-HSA-8873719)
Protein Summary
The ERC1 protein (UniProt Q8IUD2) is a 1115-amino acid scaffolding protein with multiple coiled-coil domains. It localizes to the presynaptic active zone where it interacts with RIM1, Munc13, and calcium channels to regulate synaptic vesicle docking and priming. ERC1 also binds RAB6 and is implicated in Golgi-to-plasma membrane transport. Isoforms vary in their C-terminal region, affecting subcellular localization and binding partners.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERC1 Knockout HEK293 Cell Line | EDJ-KQ139 | Human | 23085 | Details Get a Quote |
| ERC1 Knockout A-549 Cell Line | EDJ-KQ18943 | Human | 23085 | Details Get a Quote |
| ERC1 Knockout HCT 116 Cell Line | EDJ-KQ18945 | Human | 23085 | Details Get a Quote |
| ERC1 Knockout HeLa Cell Line | EDJ-KQ18946 | Human | 23085 | Details Get a Quote |
