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
ERC1
LOCATION
12p13.33
LOCUSID
23085
ALIAS
Cast2,ELKS,ERC-1,RAB6IP2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/tumors-explorer/favicon/css/card-gene.css