ARGLU1

ARGLU1
Identifiers
Aliases	ARGLU1, arginine and glutamate rich 1
External IDs	OMIM: 614046; MGI: 2442985; GeneCards: ARGLU1
Gene location (Human)
Chr.	Chromosome 13 (human)
End	106,568,137 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	8,740,521 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; right uterine tube; ; germinal epithelium; ; epithelium of nasopharynx; ; hair follicle; ; right lung; ; right hemisphere of cerebellum; ; seminal vesicula; ; skin of hip; ; superficial temporal artery;
	Top expressed in
	renal corpuscle; ; medullary collecting duct; ; ciliary body; ; epithelium of lens; ; vestibular membrane of cochlear duct; ; vestibular sensory epithelium; ; Paneth cell; ; primitive streak; ; corneal stroma; ; conjunctival fornix;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; cadherin binding;
Cellular component	mitochondrion; nucleus; nucleoplasm;
Biological process	regulation of transcription, DNA-templated; transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	55082
	234023
	ENSG00000134884
	ENSMUSG00000040459
	Q9NWB6
	Q3UL36
	NM_018011
	NM_176849
	NP_060481
	NP_789819
	Wikidata
View/Edit Human	View/Edit Mouse

Arginine and glutamate-rich protein 1 is a protein that in humans is encoded by the ARGLU1 gene located at 13q33.3.

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.

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.

Function

ARGLU1 has been characterized as a regulator of both transcription and alternative splicing, and as important for embryonic development. In mouse loss-of-function models, deletion of Arglu1 caused widespread alternative-splicing defects and cortical developmental abnormalities associated with apoptosis.

References

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

Human ARGLU1 genome location and ARGLU1 gene details page in the UCSC Genome Browser.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000134884 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040459 – 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.

[entrez-5] "Entrez Gene: ARGLU1 arginine and glutamate rich 1".

[pmid21454576-6] 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.

[pmid27899669-7] 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.

[8] "ARGLU1 is a transcriptional coactivator and splicing regulator important for stress hormone signaling and development". Nucleic Acids Research. Oxford University Press.

[9] "Deletion of ARGLU1 causes global defects in alternative splicing in vivo and mouse cortical malformations primarily via apoptosis". Cell Death & Disease. Springer Nature.