ERC1 Gene Summary [Human]
The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | ERC1 |
| Official Name | ELKS/RAB6-interacting/CAST family member 1 [Source:HGNC Symbol;Acc:HGNC:17072] |
| Ensembl ID | ENSG00000082805 |
| Bio databases IDs | |
| Aliases | ELKS/RAB6-interacting/CAST family member 1 |
| Synonyms | 4930404L01Rik, 5033405M01Rik, 9630025C19Rik, B430107L16Rik, CAST, CAST2, ELKS, Elks1, ELKS/RAB6-interacting/CAST family member 1, ERC, ERC1b, KIAA1081, mKIAA1081, R6ip2, RAB6IP2, RAB6IP2B, RB6I2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ERC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Mitotic checkpoint protein
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- bassoon-binding domain
- rad50
- Synaptonemal complex protein 1 (SCP-1)
- enzyme binding
- helix-rich Mycoplasma protein
- coiled-coil domain
- protein binding
- PDZ-domain binding
- Alpha helical coiled-coil rod protein (HCR)
- chromosome segregation protein SMC, common bacterial type
- RecF/RecN/SMC N terminal domain
- RIM-binding protein of the cytomatrix active zone
- FIP domain
- Growth-arrest specific micro-tubule binding
- PDZ binding motif
- structural molecule
- HOOK protein coiled-coil region
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- attention deficit hyperactivity disorder
- adult T-cell leukemia/lymphoma
- mature T-cell neoplasia
- T-cell non-Hodgkin disease
- acute myeloid leukemia
- diabetic nephropathy
- Hutchinson-Gilford progeria syndrome
- peptic ulcer disease
- macrocephaly, dysmorphic facies, and psychomotor retardation
- diverticular disease
role in cell
- migration
- activation in
- apoptosis
- entrance
- invasion
- exocytosis by
- binding in
- docking
- synaptic transmission
- priming
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- synaptic plasma membrane fractions
- soluble fraction
- glutaminergic synapse
- cellular membrane
- podosomes
- Plasma Membrane
- basal bodies
- centrosome
- cytosol
- presynaptic membrane
- insulin secretory granules
- synaptic vesicles
- nerve ending
- synapse
- postsynaptic density
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ERC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- maintenance of presynaptic active zone structure
- I-kappaB phosphorylation
- neuromuscular synaptic transmission
- protein transport
- regulation of synaptic plasticity
- regulation of transcription, DNA-dependent
- retrograde transport, endosome to Golgi
- positive regulation of NF-kappaB transcription factor activity
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- centrosome
- cilium basal body
- cytoplasm
- IkappaB kinase complex
- Golgi membrane
- presynaptic cytoskeletal matrix assembled at active zones
- synapse
Molecular Function
What the gene product does at the molecular level
- protein binding
- cadherin binding
- PDZ domain binding
- small GTPase binding