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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_namesRAB6IP2
RAB6 interacting protein 2
Alias_symbol (synonym)ELKS
KIAA1081
CAST2
MGC12974
Other aliasrab6-interacting protein 2, ERC1
HGNC (Hugo) ERC1
LocusID (NCBI) 23085
Atlas_Id 503
Location 12p13.33  [Link to chromosome band 12p13]
Location_base_pair Starts at 1027748 and ends at 1495933 bp from pter ( according to hg19-Feb_2009)  [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 ]
On line version : http://AtlasGeneticsOncology.org/Genes/ELKSID503.html


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


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Small Cell Carcinoma
Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)ERC1   17072
Cards
AtlasELKSID503
Entrez_Gene (NCBI)ERC1  23085  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]  chr12:1027748-1495933 [Contig_View]  ERC1 [Vega]
ICGC DataPortalENSG00000082805
TCGA cBioPortalERC1
AceView (NCBI)ERC1
Genatlas (Paris)ERC1
WikiGenes23085
SOURCE (Princeton)ERC1
Genetics Home Reference (NIH)ERC1
Genomic and cartography
GoldenPath hg38 (UCSC)ERC1  -     chr12:1027748-1495933 +  12p13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERC1  -     12p13.33   [Description]    (hg19-Feb_2009)
EnsemblERC1 - 12p13.33 [CytoView hg19]  ERC1 - 12p13.33 [CytoView hg38]
Mapping of homologs : NCBIERC1 [Mapview hg19]  ERC1 [Mapview hg38]
OMIM607127   
Gene and transcription
Genbank (Entrez)AB015617 AB029004 AB053468 AB053469 AB053470
RefSeq transcript (Entrez)NM_001301248 NM_178039 NM_178040
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERC1
Cluster EST : UnigeneHs.601216 [ NCBI ]
CGAP (NCI)Hs.601216
Alternative Splicing GalleryENSG00000082805
Gene ExpressionERC1 [ NCBI-GEO ]   ERC1 [ EBI - ARRAY_EXPRESS ]   ERC1 [ SEEK ]   ERC1 [ MEM ]
Gene Expression Viewer (FireBrowse)ERC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
UniProt/SwissProtQ8IUD2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IUD2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IUD2
Splice isoforms : SwissVarQ8IUD2
PhosPhoSitePlusQ8IUD2
Domaine pattern : Prosite (Expaxy)FIP_RBD (PS51511)   
Domains : Interpro (EBI)ELKS/CAST    Rab-bd_FIP-RBD   
Domain families : Pfam (Sanger)Cast (PF10174)    RBD-FIP (PF09457)   
Domain families : Pfam (NCBI)pfam10174    pfam09457   
Conserved Domain (NCBI)ERC1
DMDM Disease mutations23085
Blocks (Seattle)ERC1
SuperfamilyQ8IUD2
Human Protein Atlas [tissue]ENSG00000082805-ERC1 [tissue]
Peptide AtlasQ8IUD2
HPRD06181
IPIIPI00216719   IPI00171230   IPI00374976   IPI00181684   IPI00216720   IPI01014406   IPI01015074   IPI01009707   
Protein Interaction databases
DIP (DOE-UCLA)Q8IUD2
IntAct (EBI)Q8IUD2
FunCoupENSG00000082805
BioGRIDERC1
STRING (EMBL)ERC1
ZODIACERC1
Ontologies - Pathways
QuickGOQ8IUD2
Ontology : AmiGOGolgi membrane  protein binding  cytoplasm  cytoplasm  regulation of transcription, DNA-templated  I-kappaB phosphorylation  multicellular organism development  IkappaB kinase complex  protein transport  Rab GTPase binding  PDZ domain binding  retrograde transport, endosome to Golgi  presynaptic membrane  negative regulation of apoptotic process  leucine zipper domain binding  synapse  cadherin binding  presynaptic active zone  positive regulation of NF-kappaB transcription factor activity  
Ontology : EGO-EBIGolgi membrane  protein binding  cytoplasm  cytoplasm  regulation of transcription, DNA-templated  I-kappaB phosphorylation  multicellular organism development  IkappaB kinase complex  protein transport  Rab GTPase binding  PDZ domain binding  retrograde transport, endosome to Golgi  presynaptic membrane  negative regulation of apoptotic process  leucine zipper domain binding  synapse  cadherin binding  presynaptic active zone  positive regulation of NF-kappaB transcription factor activity  
Pathways : KEGGNF-kappa B signaling pathway   
NDEx NetworkERC1
Atlas of Cancer Signalling NetworkERC1
Wikipedia pathwaysERC1
Orthology - Evolution
OrthoDB23085
GeneTree (enSembl)ENSG00000082805
Phylogenetic Trees/Animal Genes : TreeFamERC1
HOVERGENQ8IUD2
HOGENOMQ8IUD2
Homologs : HomoloGeneERC1
Homology/Alignments : Family Browser (UCSC)ERC1
Gene fusions - Rearrangements
Fusion : MitelmanADIPOR2/ERC1 [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion : MitelmanERC1/ANO2 [12p13.33/12p13.31]  [inv(12)(p13p13)]  
Fusion : MitelmanERC1/BRAF [12p13.33/7q34]  [t(7;12)(q34;p13)]  
Fusion : MitelmanERC1/PDGFRB [12p13.33/5q32]  [t(5;12)(q32;p13)]  
Fusion : MitelmanERC1/PIK3C2G [12p13.33/12p12.3]  [t(12;12)(p12;p13)]  
Fusion : MitelmanERC1/RET [12p13.33/10q11.21]  [t(10;12)(q11;p13)]  
Fusion : MitelmanERC1/SPI1 [12p13.33/11p11.2]  [t(11;12)(p11;p13)]  
Fusion : MitelmanERC1/TOMM34 [12p13.33/20q13.12]  [t(12;20)(p13;q13)]  
Fusion : MitelmanERC1/VWF [12p13.33/12p13.31]  [t(12;12)(p13;p13)]  
Fusion : MitelmanERC1/WNK1 [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion : MitelmanTOMM34/ERC1 [20q13.12/12p13.33]  [t(12;20)(p13;q13)]  
Fusion : COSMICERC1 [12p13.33]  -  RET [1507]  [fusion_1508]  
Fusion : COSMICERC1 [12p13.33]  -  ROS1 [6q22.1]  [fusion_1627]  [fusion_1628]  
Fusion: TCGA_MDACCADIPOR2 12p13.33 ERC1 12p13.33 BRCA
Fusion: TCGA_MDACCERC1 12p13.33 PIK3C2G 12p12.3 BRCA
Fusion: TCGA_MDACCERC1 12p13.33 RET 10q11.21 BRCA THCA
Fusion: TCGA_MDACCERC1 12p13.33 TOMM34 20q13.12 BRCA
Fusion: TCGA_MDACCERC1 12p13.33 VWF 12p13.31 LUAD
Fusion: TCGA_MDACCERC1 12p13.33 WNK1 12p13.33 LUAD
Fusion: TCGA_MDACCTOMM34 20q13.12 ERC1 12p13.33 BRCA
Tumor Fusion PortalERC1
Fusion : TICdbERC1 [12p13.33]  -  PDGFRB [5q32]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERC1
dbVarERC1
ClinVarERC1
1000_GenomesERC1 
Exome Variant ServerERC1
ExAC (Exome Aggregation Consortium)ENSG00000082805
GNOMAD BrowserENSG00000082805
Genetic variants : HAPMAP23085
Genomic Variants (DGV)ERC1 [DGVbeta]
DECIPHERERC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERC1 
Mutations
ICGC Data PortalERC1 
TCGA Data PortalERC1 
Broad Tumor PortalERC1
OASIS PortalERC1 [ Somatic mutations - Copy number]
Cancer Gene: CensusERC1 
Somatic Mutations in Cancer : COSMICERC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDERC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ERC1
DgiDB (Drug Gene Interaction Database)ERC1
DoCM (Curated mutations)ERC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERC1 (select a term)
intoGenERC1
NCG5 (London)ERC1
Cancer3DERC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607127   
Orphanet905    20454   
DisGeNETERC1
MedgenERC1
Genetic Testing Registry ERC1
NextProtQ8IUD2 [Medical]
TSGene23085
GENETestsERC1
Target ValidationERC1
Huge Navigator ERC1 [HugePedia]
snp3D : Map Gene to Disease23085
BioCentury BCIQERC1
ClinGenERC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23085
Chemical/Pharm GKB GenePA134970875
Clinical trialERC1
Miscellaneous
canSAR (ICR)ERC1 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERC1
EVEXERC1
GoPubMedERC1
iHOPERC1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 15 12:21:01 CET 2017

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