ERC1

ERC1
Identifiers
Aliases	ERC1 , Cast2, ELKS, ERC-1, RAB6IP2, ELKS/RAB6-interacting/CAST family member 1
External IDs	OMIM: 607127; MGI: 2151013; HomoloGene: 14229; GeneCards: ERC1; OMA:ERC1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12p13.33 Start 990,509 bp [1] End 1,495,933 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 F1 Start 119,570,796 bp [2] End 119,848,167 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve epithelium of colon Achilles tendon testicle cerebellar vermis saphenous vein stromal cell of endometrium ganglionic eminence cerebellar hemisphere corpus callosum Top expressed in genital tubercle tail of embryo lumbar spinal ganglion zygote dentate gyrus of hippocampal formation granule cell Rostral migratory stream cumulus cell stria vascularis cerebellum tibiofemoral joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function leucine zipper domain binding protein binding PDZ domain binding cadherin binding Cellular component cytoplasm presynaptic active zone Golgi membrane Golgi apparatus synapse IkappaB kinase complex presynaptic membrane membrane centrosome ciliary basal body microtubule organizing center cytoskeleton Biological process multicellular organism development protein transport retrograde transport, endosome to Golgi regulation of transcription, DNA-templated I-kappaB phosphorylation positive regulation of NF-kappaB transcription factor activity negative regulation of apoptotic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23085 111173 Ensembl ENSG00000082805 ENSMUSG00000030172 UniProt Q8IUD2 Q99MI1 RefSeq (mRNA) NM_001301248 NM_178039 NM_178040 NM_053204 NM_178085 RefSeq (protein) NP_001288177 NP_829883 NP_829884 NP_444434 NP_835186 Location (UCSC) Chr 12: 0.99 – 1.5 Mb Chr 6: 119.57 – 119.85 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ELKS/RAB6-interacting/CAST family member 1 is a protein that in humans is encoded by the ERC1 gene. ^{[5] [6] [7]} The name ELKS is derived from "protein rich in the amino acids E, L, K and S" ^[8]

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. ^[7] ELKS has been reported to direct vesicles with RAB6A to melanosomes. ^[8]

Interactions

ERC1 has been shown to interact with RAB6A. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000082805 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030172 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Yokota T, Nakata T, Minami S, Inazawa J, Emi M (Apr 2000). "Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma". J Hum Genet. 45 (1): 6–11. doi: 10.1007/s100380050002 . PMID   10697956.
6. Monier S, Jollivet F, Janoueix-Lerosey I, Johannes L, Goud B (Apr 2002). "Characterization of novel Rab6-interacting proteins involved in endosome-to-TGN transport". Traffic. 3 (4): 289–97. doi:10.1034/j.1600-0854.2002.030406.x. PMID   11929610. S2CID   22993226.
7. "Entrez Gene: ERC1 ELKS/RAB6-interacting/CAST family member 1".
8. Patwardhan A, Bardin S, Miserey-Lenkei S, Larue L, Goud B, Raposo G, Delevoye C (2017). "Routing of the RAB6 secretory pathway towards the lysosome related organelle of melanocytes". Nature Communications. 8 15835. Bibcode:2017NatCo...815835P. doi:10.1038/ncomms15835. PMC   5474736 . PMID   28607494.

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. doi: 10.1093/dnares/9.3.99 . PMID   12168954.
• Armour JA, Crosier M, Jeffreys AJ (1992). "Human minisatellite alleles detectable only after PCR amplification". Genomics. 12 (1): 116–24. doi:10.1016/0888-7543(92)90413-M. 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. doi:10.1002/(SICI)1098-2264(199906)25:2<97::AID-GCC4>3.0.CO;2-L. PMID   10337992. S2CID   290489.
• 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. doi: 10.1093/dnares/6.3.197 . PMID   10470851.
• 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:10.1002/gcc.10095. PMID   12203787. S2CID   21891794.
• 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. Bibcode:2002PNAS...9914464W. doi: 10.1073/pnas.182532999 . PMC   137906 . 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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: 10.1074/jbc.M307561200 . 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: 10.1038/ng1285 . 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. doi: 10.1111/j.1356-9597.2004.00697.x . PMID   14723704. S2CID   13337267.
• 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. Bibcode:2004Sci...304.1963D. doi:10.1126/science.1098387. PMID   15218148. S2CID   29198955.
• 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. Bibcode:2004CBio...14.1436J. doi: 10.1016/j.cub.2004.07.051 . PMID   15324660. S2CID   2371325.
• 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:10.1101/gr.2596504. PMC   528928 . 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• 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:10.1038/nbt1240. PMID   16964243. S2CID   14294292.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.