Download Gene Section ERC1 (ELKS/RAB6-interacting/CAST family member 1) Atlas of Genetics and Cytogenetics

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Gene Section
Short Communication
ERC1 (ELKS/RAB6-interacting/CAST family
member 1)
Tomoko Nakata, Shiro Minami, Mitsuru Emi
Department of Bioregulation, Institute of Gerontology, Nippon Medical School, Kawasaki, Kanagawa, Japan
(TN, SM, ME)
Published in Atlas Database: January 2004
Online updated version: http://AtlasGeneticsOncology.org/Genes/ELKSID503.html
DOI: 10.4267/2042/38061
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2004 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Homology
Identity
CAST or ERC2.
Other names: ELKS; rab6-interacting protein 2, ERC1
HGNC (Hugo): ERC1
Location: 12p13.3
Implicated in
9.0 Kb and other smaller mRNAs; alternative splicing:
at least 5 isoforms (a, b, g, d, e).
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.
Protein
Breakpoints
Description
Note
Intron 10 of ELKS and intron 11 of the RET.
DNA/RNA
Description
At least 21 exons. 500 Kb.
Transcription
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.
References
Kitamura Y, Minobe K, Nakata T, Shimizu K, Tanaka S,
Fujimori M, Yokoyama S, Ito K, Onda M, Emi M. Ret/PTC3 is
the most frequent form of gene rearrangement in papillary
thyroid carcinomas in Japan. J Hum Genet. 1999;44(2):96-102
Nakata T, Kitamura Y, Shimizu K, Tanaka
Yokoyama S, Ito K, Emi M. Fusion of a novel
RET due to translocation t(10;12)(q11;p13)
thyroid carcinoma. Genes Chromosomes
Jun;25(2):97-103
Yokota T, Nakata T, Minami S, Inazawa J, Emi M. Genomic
organization and chromosomal mapping of ELKS, a gene
rearranged in a papillary thyroid carcinoma. J Hum Genet.
2000;45(1):6-11
Expression
Ubiquitous, a and b are abundant in the brain. d and e
predominate in the testis, thyroid and other tissues.
Monier S, Jollivet F, Janoueix-Lerosey I, Johannes L, Goud B.
Characterization of novel Rab6-interacting proteins involved in
endosome-to-TGN transport. Traffic. 2002 Apr;3(4):289-97
Function
Unknown.
Atlas Genet Cytogenet Oncol Haematol. 2004; 8(2)
S, Fujimori M,
gene, ELKS, to
in a papillary
Cancer. 1999
63
ERC1 (ELKS/RAB6-interacting/CAST family member 1)
Nakata T et al.
Nakata T, Yokota T, Emi M, Minami S. Differential expression
of multiple isoforms of the ELKS mRNAs involved in a papillary
thyroid carcinoma. Genes Chromosomes Cancer. 2002
Sep;35(1):30-7
Ko J, Na M, Kim S, Lee JR, Kim E. Interaction of the ERC
family of RIM-binding proteins with the liprin-alpha family of
multidomain
proteins.
J
Biol
Chem.
2003
Oct
24;278(43):42377-85
Wang Y, Liu X, Biederer T, Südhof TC. A family of RIM-binding
proteins regulated by alternative splicing: Implications for the
genesis of synaptic active zones. Proc Natl Acad Sci U S A.
2002 Oct 29;99(22):14464-9
This article should be referenced as such:
Atlas Genet Cytogenet Oncol Haematol. 2004; 8(2)
Nakata T, Minami S, Emi M. ERC1 (ELKS/RAB6interacting/CAST family member 1). Atlas Genet Cytogenet
Oncol Haematol. 2004; 8(2):63-64.
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