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Gene Gene information from NCBI Gene database.
Entrez ID 55082
Gene name Arginine and glutamate rich 1
Gene symbol ARGLU1
Synonyms (NCBI Gene)
-
Chromosome 13
Chromosome location 13q33.3
miRNA miRNA information provided by mirtarbase database.
108 Show/Hide all (108)
miRTarBase ID miRNA Experiments Reference
MIRT021029 hsa-miR-155-5p Proteomics 18668040
MIRT024091 hsa-miR-1-3p Proteomics 18668040
MIRT028287 hsa-miR-32-5p Sequencing 20371350
MIRT037100 hsa-miR-877-3p CLASH 23622248
MIRT559553 hsa-miR-548u PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21 Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IEA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IMP 30698747
GO:0003713 Function Transcription coactivator activity IEA
GO:0003713 Function Transcription coactivator activity IMP 30698747
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614046 25482 ENSG00000134884
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NWB6
Protein name Arginine and glutamate-rich protein 1
Protein function Dual function regulator of gene expression; regulator of transcription and modulator of alternative splicing (PubMed:30698747). General coactivator of nuclear receptor-induced gene expression, including genes activated by the glucocorticoid rece
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15346 ARGLU 119 → 269 Arginine and glutamate-rich 1 Coiled-coil
Sequence
MGRSRSRSSSRSKHTKSSKHNKKRSRSRSRSRDKERVRKRSKSRESKRNRRRESRSRSRS
TNTAVSRRERDRERASSPPDRIDIFGRTVSKRSSLDEKQKREEEEKKAEFERQRKIRQQE
IEEKLIEEETARRVEELVAKRVEEELEKRKDEIEREVLRRVEEAKRIMEKQLLEELERQR
QAELAAQKAREEEERAKREELERILEENNRKIAEAQAKLAEEQLRIVEEQRKIHEERMKL
EQERQRQQKEEQKIILGKGKSRPKLSFSL
KTQD
Sequence length 273
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
ARGLU1-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (6)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 36418457 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21454576
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21454576 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 40473764 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Heart Defects Congenital heart defects BEFREE 30698747
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 21454576
★★★★★
★☆☆☆☆
Found in Text Mining only