ERC1 (ELKS/RAB6-interacting/CAST family member 1)
2004-01-01 Tomoko Nakata , Shiro Minami , Mitsuru Emi AffiliationDepartment of Bioregulation, Institute of Gerontology, Nippon Medical School, Kawasaki, Kanagawa, Japan
Identity
HGNC
LOCATION
12p13.33
LOCUSID
ALIAS
Cast2,ELKS,ERC-1,RAB6IP2
FUSION GENES
DNA/RNA
Description
at least 21 exons. 500 Kb
Transcription
9.0 Kb and other smaller mRNAs ; alternative splicing: at least 5 isoforms (a, b, g, d, e)
Proteins
Description
a : 948 amino acids, b: 992 amino acids, g: 720 amino acids, d:1088 amino acids, e:1116 amino acids, containing eight to ten coiled-coil domains.
Rich in glutamic acid (E), leucine (L), lysine (K) and serine (S).
Mouse homolog of ELKS a subtype binds to RIM (Rab3-interacting molecule) which is presynaptic active zone protein and regulates neurotransmitter release.
Mouse homologs of ELKS bind to rab6 which regulate intracellular transport.
Rich in glutamic acid (E), leucine (L), lysine (K) and serine (S).
Mouse homolog of ELKS a subtype binds to RIM (Rab3-interacting molecule) which is presynaptic active zone protein and regulates neurotransmitter release.
Mouse homologs of ELKS bind to rab6 which regulate intracellular transport.
Expression
Ubiquitous, a and b are abundant in the brain. d and e predominate in the testis, thyroid and other tissues.
Function
unknown
Homology
CAST or ERC2
Implicated in
Disease
papillary thyroid carcinoma
Hybrid gene
5 ELKS-3 RET in the t(10;12)(q11;p13)
Fusion protein
ELKS-RET
Oncogenesis
constitutive activation of RET
Breakpoints
Note
Intron 10 of ELKS and intron 11 of the RET.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10083732 | 1999 | Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan. | Kitamura Y et al |
| 12923177 | 2003 | Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins. | Ko J et al |
| 11929610 | 2002 | Characterization of novel Rab6-interacting proteins involved in endosome-to-TGN transport. | Monier S et al |
| 10337992 | 1999 | Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma. | Nakata T et al |
| 12203787 | 2002 | Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma. | Nakata T et al |
| 12391317 | 2002 | A family of RIM-binding proteins regulated by alternative splicing: Implications for the genesis of synaptic active zones. | Wang Y et al |
| 10697956 | 2000 | Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma. | Yokota T et al |
Other Information
Locus ID:
NCBI: 23085
MIM: 607127
HGNC: 17072
Ensembl: ENSG00000082805
Variants:
dbSNP: 23085
ClinVar: 23085
TCGA: ENSG00000082805
COSMIC: ERC1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| NF-kappa B signaling pathway | KEGG | hsa04064 |
| NF-kappa B signaling pathway | KEGG | ko04064 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37437062 | 2023 | Interfering with the ERC1-LL5β interaction disrupts plasma membrane-Associated platforms and affects tumor cell motility. | 1 |
| 37437062 | 2023 | Interfering with the ERC1-LL5β interaction disrupts plasma membrane-Associated platforms and affects tumor cell motility. | 1 |
| 33761347 | 2021 | Oligomerized liprin-α promotes phase separation of ELKS for compartmentalization of presynaptic active zone proteins. | 15 |
| 33761347 | 2021 | Oligomerized liprin-α promotes phase separation of ELKS for compartmentalization of presynaptic active zone proteins. | 15 |
| 32768867 | 2020 | Volumetric GWAS of medial temporal lobe structures identifies an ERC1 locus using ADNI high-resolution T2-weighted MRI data. | 5 |
| 32768867 | 2020 | Volumetric GWAS of medial temporal lobe structures identifies an ERC1 locus using ADNI high-resolution T2-weighted MRI data. | 5 |
| 31500835 | 2019 | Role of the active zone protein, ELKS, in insulin secretion from pancreatic β-cells. | 9 |
| 31500835 | 2019 | Role of the active zone protein, ELKS, in insulin secretion from pancreatic β-cells. | 9 |
| 29348417 | 2018 | Identification of a membrane-less compartment regulating invadosome function and motility. | 13 |
| 29491150 | 2018 | ELKS active zone proteins as multitasking scaffolds for secretion. | 18 |
| 29946045 | 2018 | Identification of Host Factors Involved in Human Cytomegalovirus Replication, Assembly, and Egress Using a Two-Step Small Interfering RNA Screen. | 14 |
| 29348417 | 2018 | Identification of a membrane-less compartment regulating invadosome function and motility. | 13 |
| 29491150 | 2018 | ELKS active zone proteins as multitasking scaffolds for secretion. | 18 |
| 29946045 | 2018 | Identification of Host Factors Involved in Human Cytomegalovirus Replication, Assembly, and Egress Using a Two-Step Small Interfering RNA Screen. | 14 |
| 27253063 | 2016 | ELKS controls the pool of readily releasable vesicles at excitatory synapses through its N-terminal coiled-coil domains. | 37 |
Citation
Tomoko Nakata ; Shiro Minami ; Mitsuru Emi
ERC1 (ELKS/RAB6-interacting/CAST family member 1)
Atlas Genet Cytogenet Oncol Haematol. 2004-01-01
Online version: http://atlasgeneticsoncology.org/gene/503/erc1-(elks-rab6-interacting-cast-family-member-1)
