ARGLU1 arginine and glutamate rich 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARGLU1provided by HGNC
Official Full Name: arginine and glutamate rich 1provided by HGNC
Primary source: HGNC:HGNC:25482
See related: Ensembl:ENSG00000134884 MIM:614046; AllianceGenome:HGNC:25482
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables nuclear receptor coactivator activity and pre-mRNA binding activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Located in cytosol; mitochondrion; and nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in lung (RPKM 83.2), spleen (RPKM 81.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q33.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (106541673..106568137, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (105762093..105788553, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (107194021..107220485, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ARGLU1 enhances promoter-proximal pausing of RNA polymerase II and stimulates DNA damage repair.
Title: ARGLU1 enhances promoter-proximal pausing of RNA polymerase II and stimulates DNA damage repair.
Distinct biogenesis pathways may have led to functional divergence of the human and Drosophila Arglu1 sisRNA.
Title: Distinct biogenesis pathways may have led to functional divergence of the human and Drosophila Arglu1 sisRNA.
Identification of ARGLU1 as a potential therapeutic target for gastric cancer based on genome-wide functional screening data.
Title: Identification of ARGLU1 as a potential therapeutic target for gastric cancer based on genome-wide functional screening data.
MiR-3613-3p inhibits hypertrophic scar formation by down-regulating arginine and glutamate-rich 1.
Title: MiR-3613-3p inhibits hypertrophic scar formation by down-regulating arginine and glutamate-rich 1.
ARGLU1 is a novel factor for embryonic development that modulates basal transcription and alternative splicing in neural cells with consequences for glucocorticoid signaling.
Title: ARGLU1 is a transcriptional coactivator and splicing regulator important for stress hormone signaling and development.
establish ARGLU1 as a new MED1-interacting protein required for estrogen-dependent gene transcription and breast cancer cell growth.
Title: 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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of arginine and glutamate rich 1 (ARGLU1; FLJ 10154) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-84605 (e-PCR)
- UniSTS:102933

D1S1423 (e-PCR)
- UniSTS:149619

RH44738 (e-PCR)
- UniSTS:17591

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables nuclear receptor coactivator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables pre-mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of alternative mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: arginine and glutamate-rich protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.