ERC1 (ELKS/RAB6-interacting/CAST family member 1)

2004-01-01   Tomoko Nakata  , Shiro Minami  , Mitsuru Emi  

Department 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.

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 IDLast YearTitleAuthors
100837321999Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan.Kitamura Y et al
129231772003Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins.Ko J et al
119296102002Characterization of novel Rab6-interacting proteins involved in endosome-to-TGN transport.Monier S et al
103379921999Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma.Nakata T et al
122037872002Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma.Nakata T et al
123913172002A family of RIM-binding proteins regulated by alternative splicing: Implications for the genesis of synaptic active zones.Wang Y et al
106979562000Genomic 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

Gene IDTranscript IDUniprot
ENSG00000082805ENST00000347735Q8IUD2
ENSG00000082805ENST00000355446G8JLD3
ENSG00000082805ENST00000360905Q8IUD2
ENSG00000082805ENST00000397203Q8IUD2
ENSG00000082805ENST00000440394Q8IUD2
ENSG00000082805ENST00000539802K7EP25
ENSG00000082805ENST00000542302X6RM00
ENSG00000082805ENST00000543086Q8IUD2
ENSG00000082805ENST00000545318K7EKH8
ENSG00000082805ENST00000545318A0A0U1RRM0
ENSG00000082805ENST00000545948Q8IUD2
ENSG00000082805ENST00000546231X6RLX0
ENSG00000082805ENST00000588412K7EPD6
ENSG00000082805ENST00000589028Q8IUD2
ENSG00000082805ENST00000589132K7EIZ7
ENSG00000082805ENST00000589132A0A0U1RQD6
ENSG00000082805ENST00000592048K7EPP6
ENSG00000082805ENST00000592048A0A0U1RQM4
ENSG00000082805ENST00000611180Q8IUD2

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
NF-kappa B signaling pathwayKEGGhsa04064
NF-kappa B signaling pathwayKEGGko04064

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
374370622023Interfering with the ERC1-LL5β interaction disrupts plasma membrane-Associated platforms and affects tumor cell motility.1
374370622023Interfering with the ERC1-LL5β interaction disrupts plasma membrane-Associated platforms and affects tumor cell motility.1
337613472021Oligomerized liprin-α promotes phase separation of ELKS for compartmentalization of presynaptic active zone proteins.15
337613472021Oligomerized liprin-α promotes phase separation of ELKS for compartmentalization of presynaptic active zone proteins.15
327688672020Volumetric GWAS of medial temporal lobe structures identifies an ERC1 locus using ADNI high-resolution T2-weighted MRI data.5
327688672020Volumetric GWAS of medial temporal lobe structures identifies an ERC1 locus using ADNI high-resolution T2-weighted MRI data.5
315008352019Role of the active zone protein, ELKS, in insulin secretion from pancreatic β-cells.9
315008352019Role of the active zone protein, ELKS, in insulin secretion from pancreatic β-cells.9
293484172018Identification of a membrane-less compartment regulating invadosome function and motility.13
294911502018ELKS active zone proteins as multitasking scaffolds for secretion.18
299460452018Identification of Host Factors Involved in Human Cytomegalovirus Replication, Assembly, and Egress Using a Two-Step Small Interfering RNA Screen.14
293484172018Identification of a membrane-less compartment regulating invadosome function and motility.13
294911502018ELKS active zone proteins as multitasking scaffolds for secretion.18
299460452018Identification of Host Factors Involved in Human Cytomegalovirus Replication, Assembly, and Egress Using a Two-Step Small Interfering RNA Screen.14
272530632016ELKS 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/deep-insight-explorer/gene-explorer/favicon/manifest.json