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

Written2004-01Tomoko Nakata, Shiro Minami, Mitsuru Emi
Department of Bioregulation, Institute of Gerontology, Nippon Medical School, Kawasaki, Kanagawa, Japan

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)ELKS
rab6-interacting protein 2, ERC1
HGNC (Hugo) ERC1
HGNC Alias symbELKS
KIAA1081
CAST2
MGC12974
HGNC Previous nameRAB6IP2
HGNC Previous nameRAB6 interacting protein 2
LocusID (NCBI) 23085
Atlas_Id 503
Location 12p13.33  [Link to chromosome band 12p13]
Location_base_pair Starts at 991223 and ends at 1495931 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ERC1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADIPOR2 (12p13.33)::ERC1 (12p13.33)ERC1 (12p13.33)::ANO2 (12p13.31)ERC1 (12p13.33)::BRAF (7q34)
ERC1 (12p13.33)::CACNA2D4 (12p13.33)ERC1 (12p13.33)::ERC1 (12p13.33)ERC1 (12p13.33)::ETV6 (12p13.2)
ERC1 (12p13.33)::PDGFRB (5q32)ERC1 (12p13.33)::PIK3C2G (12p12.3)ERC1 (12p13.33)::PRKDC (8q11.21)
ERC1 (12p13.33)::RET (10q11.21)ERC1 (12p13.33)::ROS1 (6q22.1)ERC1 (12p13.33)::SPI1 (11p11.2)
ERC1 (12p13.33)::SYCP2 (20q13.33)ERC1 (12p13.33)::TOMM34 (20q13.12)ERC1 (12p13.33)::VWF (12p13.31)
ERC1 (12p13.33)::WNK1 (12p13.33)LETM1 (4p16.3)::ERC1 (12p13.33)NDRG2 (14q11.2)::ERC1 (12p13.33)
RET (10q11.21)::ERC1 (12p13.33)TEAD4 (12p13.33)::ERC1 (12p13.33)TOMM34 (20q13.12)::ERC1 (12p13.33)
WNK1 (12p13.33)::ERC1 (12p13.33)

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)

Protein

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

Note
Disease papillary thyroid carcinoma
Hybrid/Mutated Gene 5' ELKS-3' RET in the t(10;12)(q11;p13)
Abnormal Protein ELKS-RET
Oncogenesis constitutive activation of RET
  

Breakpoints

Note Intron 10 of ELKS and intron 11 of the RET.

Bibliography

Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan.
Kitamura Y, Minobe K, Nakata T, Shimizu K, Tanaka S, Fujimori M, Yokoyama S, Ito K, Onda M, Emi M
Journal of human genetics. 1999 ; 44 (2) : 96-102.
PMID 10083732
 
Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins.
Ko J, Na M, Kim S, Lee JR, Kim E
The Journal of biological chemistry. 2003 ; 278 (43) : 42377-42385.
PMID 12923177
 
Characterization of novel Rab6-interacting proteins involved in endosome-to-TGN transport.
Monier S, Jollivet F, Janoueix-Lerosey I, Johannes L, Goud B
Traffic (Copenhagen, Denmark). 2002 ; 3 (4) : 289-297.
PMID 11929610
 
Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma.
Nakata T, Kitamura Y, Shimizu K, Tanaka S, Fujimori M, Yokoyama S, Ito K, Emi M
Genes, chromosomes & cancer. 1999 ; 25 (2) : 97-103.
PMID 10337992
 
Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma.
Nakata T, Yokota T, Emi M, Minami S
Genes, chromosomes & cancer. 2002 ; 35 (1) : 30-37.
PMID 12203787
 
A family of RIM-binding proteins regulated by alternative splicing: Implications for the genesis of synaptic active zones.
Wang Y, Liu X, Biederer T, Südhof TC
Proceedings of the National Academy of Sciences of the United States of America. 2002 ; 99 (22) : 14464-14469.
PMID 12391317
 
Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma.
Yokota T, Nakata T, Minami S, Inazawa J, Emi M
Journal of human genetics. 2000 ; 45 (1) : 6-11.
PMID 10697956
 

Citation

This paper should be referenced as such :
Nakata, T ; Minami, S ; Emi, M
ELKS (ELKS/RAB6-interacting/CAST family member 1)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):59-60.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;12)(q33;p13) ERC1::PDGFRB


External links

Nomenclature
HGNC (Hugo)ERC1   17072
Cards
AtlasELKSID503
Entrez_Gene (NCBI)ERC1    ELKS/RAB6-interacting/CAST family member 1
AliasesCast2; ELKS; ERC-1; RAB6IP2
GeneCards (Weizmann)ERC1
Ensembl hg19 (Hinxton)ENSG00000082805 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000082805 [Gene_View]  ENSG00000082805 [Sequence]  chr12:991223-1495931 [Contig_View]  ERC1 [Vega]
ICGC DataPortalENSG00000082805
TCGA cBioPortalERC1
AceView (NCBI)ERC1
Genatlas (Paris)ERC1
SOURCE (Princeton)ERC1
Genetics Home Reference (NIH)ERC1
Genomic and cartography
GoldenPath hg38 (UCSC)ERC1  -     chr12:991223-1495931 +  12p13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERC1  -     12p13.33   [Description]    (hg19-Feb_2009)
GoldenPathERC1 - 12p13.33 [CytoView hg19]  ERC1 - 12p13.33 [CytoView hg38]
ImmunoBaseENSG00000082805
Genome Data Viewer NCBIERC1 [Mapview hg19]  
OMIM607127   
Gene and transcription
Genbank (Entrez)AB015617 AB029004 AB053468 AB053469 AB053470
RefSeq transcript (Entrez)NM_001301248 NM_178039 NM_178040
Consensus coding sequences : CCDS (NCBI)ERC1
Gene ExpressionERC1 [ NCBI-GEO ]   ERC1 [ EBI - ARRAY_EXPRESS ]   ERC1 [ SEEK ]   ERC1 [ MEM ]
Gene Expression Viewer (FireBrowse)ERC1 [ Firebrowse - Broad ]
GenevisibleExpression of ERC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23085
GTEX Portal (Tissue expression)ERC1
Human Protein AtlasENSG00000082805-ERC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ERC1
Human Protein Atlas [tissue]ENSG00000082805-ERC1 [tissue]
HPRD06181
Protein Interaction databases
BioGRIDERC1
STRING (EMBL)ERC1
ZODIACERC1
Ontologies - Pathways
Litterature
PubMed91 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXERC1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:17:02 CEST 2021

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