ARGLU1
| ARGLU1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | ARGLU1, arginine and glutamate rich 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614046; MGI: 2442985; HomoloGene: 9960; GeneCards: ARGLU1; OMA:ARGLU1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Arginine and glutamate-rich protein 1 is a protein that in humans is encoded by the ARGLU1 gene located at 13q33.3.[5]
The protein product of this gene has been proposed as a MED1-interacting protein required for estrogen-dependent gene transcription and breast cancer cell growth.[6]
The ARGLU1 gene expresses at least three distinct RNA splice isoforms - a fully spliced isoform coding for the protein, an isoform containing a retained intron that is detained in the nucleus, and an isoform containing an alternative exon that targets the transcript for nonsense mediated decay. Furthermore, ARGLU1 contains a long, highly evolutionarily conserved sequence known as an Ultraconserved Element (UCE) that is within the retained intron and overlaps the alternative exon. [7]
Function
[edit]ARGLU1 has been characterized as a regulator of both transcription and alternative splicing, and as important for embryonic development.[8] In mouse loss-of-function models, deletion of Arglu1 caused widespread alternative-splicing defects and cortical developmental abnormalities associated with apoptosis.[9]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000134884 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040459 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: ARGLU1 arginine and glutamate rich 1".
- ↑ Zhang D, Jiang P, Xu Q, Zhang X (May 2011). "Arginine and glutamate-rich 1 (ARGLU1) interacts with mediator subunit 1 (MED1) and is required for estrogen receptor-mediated gene transcription and breast cancer cell growth". J. Biol. Chem. 286 (20): 17746–54. doi:10.1074/jbc.M110.206029. PMC 3093850. PMID 21454576.
- ↑ Pirnie SP, Osman A, Zhu Y, Carmichael GG (April 2017). "An Ultraconserved Element (UCE) controls homeostatic splicing of ARGLU1 mRNA". Nucleic Acids Res. 45 (6): 3473–3486. doi:10.1093/nar/gkw1140. PMC 5389617. PMID 27899669.
- ↑ "ARGLU1 is a transcriptional coactivator and splicing regulator important for stress hormone signaling and development". Nucleic Acids Research. Oxford University Press.
- ↑ "Deletion of ARGLU1 causes global defects in alternative splicing in vivo and mouse cortical malformations primarily via apoptosis". Cell Death & Disease. Springer Nature.
External links
[edit]- Human ARGLU1 genome location and ARGLU1 gene details page in the UCSC Genome Browser.