ERC1
From Wikipedia, the free encyclopedia
ELKS/RAB6-interacting/CAST family member 1
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Identifiers | ||||||||||||||
Symbol(s) | ERC1; Cast2; ELKS; KIAA1081; MGC12974; RAB6IP2 | |||||||||||||
External IDs | OMIM: 607127 MGI: 2151013 HomoloGene: 14229 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 23085 | 111173 | ||||||||||||
Ensembl | ENSG00000082805 | ENSMUSG00000030172 | ||||||||||||
Uniprot | Q8IUD2 | Q99MI1 | ||||||||||||
Refseq | NM_015064 (mRNA) NP_055879 (protein) |
XM_001003358 (mRNA) XP_001003358 (protein) |
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Location | Chr 12: 1.01 - 1.47 Mb | Chr 6: 119.54 - 119.81 Mb | ||||||||||||
Pubmed search | [1] | [2] |
ELKS/RAB6-interacting/CAST family member 1, also known as ERC1, is a human gene.[1]
The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13). Multiple transcript variants encoding different isoforms have been found for this gene.[1]
[edit] References
[edit] Further reading
- Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99–106. PMID 12168954.
- Armour JA, Crosier M, Jeffreys AJ (1992). "Human minisatellite alleles detectable only after PCR amplification.". Genomics 12 (1): 116–24. PMID 1733848.
- Nakata T, Kitamura Y, Shimizu K, et al. (1999). "Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma.". Genes Chromosomes Cancer 25 (2): 97–103. PMID 10337992.
- Kikuno R, Nagase T, Ishikawa K, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 6 (3): 197–205. PMID 10470851.
- Yokota T, Nakata T, Minami S, et al. (2000). "Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma.". J. Hum. Genet. 45 (1): 6–11. PMID 10697956.
- Monier S, Jollivet F, Janoueix-Lerosey I, et al. (2002). "Characterization of novel Rab6-interacting proteins involved in endosome-to-TGN transport.". Traffic 3 (4): 289–97. PMID 11929610.
- Nakata T, Yokota T, Emi M, Minami S (2002). "Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma.". Genes Chromosomes Cancer 35 (1): 30–7. doi: . PMID 12203787.
- Wang Y, Liu X, Biederer T, Südhof TC (2002). "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. 99 (22): 14464–9. doi: . PMID 12391317.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi: . PMID 12477932.
- Ko J, Na M, Kim S, et al. (2004). "Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins.". J. Biol. Chem. 278 (43): 42377–85. doi: . PMID 12923177.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi: . PMID 14702039.
- Deguchi-Tawarada M, Inoue E, Takao-Rikitsu E, et al. (2004). "CAST2: identification and characterization of a protein structurally related to the presynaptic cytomatrix protein CAST.". Genes Cells 9 (1): 15–23. PMID 14723704.
- Ducut Sigala JL, Bottero V, Young DB, et al. (2004). "Activation of transcription factor NF-kappaB requires ELKS, an IkappaB kinase regulatory subunit.". Science 304 (5679): 1963–7. doi: . PMID 15218148.
- Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization.". Curr. Biol. 14 (16): 1436–50. doi: . PMID 15324660.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi: . PMID 15489334.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi: . PMID 16189514.
- Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.". Nat. Biotechnol. 24 (10): 1285–92. doi: . PMID 16964243.
- Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3: 89. doi: . PMID 17353931.