Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ELKS

Identity

Other namesrab6-interacting protein 2, ERC1
HGNC ERC1
Location 12p13.3

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

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.

External links

Nomenclature
HGNCERC1   17072
Entrez_GeneERC1  23085  ELKS/RAB6-interacting/CAST family member 1
Cards
AtlasELKSID503
GeneCardsERC1
EnsemblERC1 [Search_View]   ENSG00000082805 [Gene_View]
GenatlasERC1
GeneLynxERC1
eGenomeERC1
euGene23085
Genomic and cartography
GoldenPathERC1  -  12p13.3   chr12:970665-1472958 +  12p13.3   [Description]    (hg18-Mar_2006)
EnsemblERC1 - 12p13.3 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneERC1
Gene and transcription
GenbankAB015617 [ ENTREZ ]
GenbankAB029004 [ ENTREZ ]
GenbankAB053468 [ ENTREZ ]
GenbankAB053469 [ ENTREZ ]
GenbankAB053470 [ ENTREZ ]
RefSeqNM_015064 [ SRS ]    NM_015064 [ ENTREZ ]
RefSeqNM_178037 [ SRS ]    NM_178037 [ ENTREZ ]
RefSeqNM_178038 [ SRS ]    NM_178038 [ ENTREZ ]
RefSeqNM_178039 [ SRS ]    NM_178039 [ ENTREZ ]
RefSeqNM_178040 [ SRS ]    NM_178040 [ ENTREZ ]
RefSeqAC_000055 [ SRS ]    AC_000055 [ ENTREZ ]
RefSeqAC_000144 [ SRS ]    AC_000144 [ ENTREZ ]
RefSeqNC_000012 [ SRS ]    NC_000012 [ ENTREZ ]
RefSeqNT_009759 [ SRS ]    NT_009759 [ ENTREZ ]
RefSeqNW_001838049 [ SRS ]    NW_001838049 [ ENTREZ ]
RefSeqNW_925295 [ SRS ]    NW_925295 [ ENTREZ ]
AceViewERC1 AceView - NCBI
UnigeneHs.658200 [ SRS ]    Hs.658200 [ NCBI ]     HS658200 [ spliceNest ]
Fast-db358 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ8IUD2 [ SRS]    Q8IUD2 [ EXPASY ]     Q8IUD2 [ INTERPRO ]     Q8IUD2 [ UNIPROT ]
CluSTrQ8IUD2
BlocksQ8IUD2
HPRD06181
Protein Interaction databases
DIPQ8IUD2
IntActQ8IUD2
Polymorphism : SNP, mutations, diseases
OMIM607127    [ map ]   
GENECLINICS607127
SNPERC1 [dbSNP-NCBI]  
SNPNM_015064 [SNP-NCI]  
SNPNM_178037 [SNP-NCI]  
SNPNM_178038 [SNP-NCI]  
SNPNM_178039 [SNP-NCI]  
SNPNM_178040 [SNP-NCI]  
SNPERC1 [GeneSNPs - Utah]  ERC1] [HGBASE - SRS]
HAPMAPERC1 [HAPMAP]  
COSMICERC1 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbERC1 [Translocation breakpoints In Cancer]  
HGMDERC1
General knowledge
Family BrowserERC1 [UCSC Family Browser]
SOURCENM_015064
SOURCENM_178037
SOURCENM_178038
SOURCENM_178039
SOURCENM_178040
SMDHs.658200
SAGEHs.658200
GOGolgi membrane [Amigo]  Golgi membrane
GOprotein binding [Amigo]  protein binding
GOcytoplasm [Amigo]  cytoplasm
GOGolgi apparatus [Amigo]  Golgi apparatus
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOI-kappaB phosphorylation [Amigo]  I-kappaB phosphorylation
GOmulticellular organismal development [Amigo]  multicellular organismal development
GOIkappaB kinase complex [Amigo]  IkappaB kinase complex
GOprotein transport [Amigo]  protein transport
GOpresynaptic membrane [Amigo]  presynaptic membrane
GOleucine zipper domain binding [Amigo]  leucine zipper domain binding
GOpositive regulation of anti-apoptosis [Amigo]  positive regulation of anti-apoptosis
GOpositive regulation of NF-kappaB transcription factor activity [Amigo]  positive regulation of NF-kappaB transcription factor activity
PubGeneERC1
TreeFamERC1
CTD23085 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeERC1 Related clones (RZPD - Berlin)
PubMed
PubMed19 Pubmed reference(s) in LocusLink

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
 
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
 
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
 
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, Sˆºdhof TC
Proceedings of the National Academy of Sciences of the United States of America. 2002 ; 99 (22) : 14464-14469.
PMID 12391317
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written01-2004Tomoko Nakata, Shiro Minami, Mitsuru Emi
Department of Bioregulation, Institute of Gerontology, Nippon Medical School, Kawasaki, Kanagawa, Japan

Citation

This paper should be referenced as such :
Nakata T, Minami S, Emi M . ELKS. Atlas Genet Cytogenet Oncol Haematol. January 2004 .
URL : http://AtlasGeneticsOncology.org/Genes/ELKSID503.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:13:31 2008


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