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

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

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.

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

Gene ID	Transcript ID	Uniprot
ENSG00000082805	ENST00000347735	Q8IUD2
ENSG00000082805	ENST00000355446	G8JLD3
ENSG00000082805	ENST00000360905	Q8IUD2
ENSG00000082805	ENST00000397203	Q8IUD2
ENSG00000082805	ENST00000440394	Q8IUD2
ENSG00000082805	ENST00000539802	K7EP25
ENSG00000082805	ENST00000542302	X6RM00
ENSG00000082805	ENST00000543086	Q8IUD2
ENSG00000082805	ENST00000545318	K7EKH8
ENSG00000082805	ENST00000545318	A0A0U1RRM0
ENSG00000082805	ENST00000545948	Q8IUD2
ENSG00000082805	ENST00000546231	X6RLX0
ENSG00000082805	ENST00000588412	K7EPD6
ENSG00000082805	ENST00000589028	Q8IUD2
ENSG00000082805	ENST00000589132	K7EIZ7
ENSG00000082805	ENST00000589132	A0A0U1RQD6
ENSG00000082805	ENST00000592048	K7EPP6
ENSG00000082805	ENST00000592048	A0A0U1RQM4
ENSG00000082805	ENST00000611180	Q8IUD2

Expression (GTEx)

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

Pathway	Source	External ID
NF-kappa B signaling pathway	KEGG	hsa04064
NF-kappa B signaling pathway	KEGG	ko04064

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20932476	2010	ATM- and NEMO-dependent ELKS ubiquitination coordinates TAK1-mediated IKK activation in response to genotoxic stress.	84
12923177	2003	Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins.	62
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
15218148	2004	Activation of transcription factor NF-kappaB requires ELKS, an IkappaB kinase regulatory subunit.	60
20201926	2010	Human variation in alcohol response is influenced by variation in neuronal signaling genes.	45
24982445	2014	Liprin-α1, ERC1 and LL5 define polarized and dynamic structures that are implicated in cell migration.	19
27253063	2016	ELKS controls the pool of readily releasable vesicles at excitatory synapses through its N-terminal coiled-coil domains.	19
12203787	2002	Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma.	10
29491150	2018	ELKS active zone proteins as multitasking scaffolds for secretion.	5
23583364	2013	Antibodies to active zone protein ERC1 in Lambert-Eaton myasthenic syndrome.	4

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)