ARGLU1

Summary

ARGLU1 (arginine and glutamate rich 1, HGNC:25482) is a protein-coding gene on chromosome 13q33.3, encoding Arginine and glutamate-rich protein 1 (Q9NWB6). Dual function regulator of gene expression; regulator of transcription and modulator of alternative splicing. It is a selective cancer dependency (DepMap: 61.9% of cell lines).

Enables pre-mRNA binding activity and transcription coactivator activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Located in cytosol; mitochondrion; and nuclear speck.

Source: NCBI Gene 55082 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 28 total — 1 likely-pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 61.9% of screened cell lines
• MANE Select transcript: NM_018011

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25482
Approved symbol	ARGLU1
Name	arginine and glutamate rich 1
Location	13q33.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10154
Ensembl gene	ENSG00000134884
Ensembl biotype	protein_coding
OMIM	614046
Entrez	55082

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000360629, ENST00000375926, ENST00000400198, ENST00000472226, ENST00000868085, ENST00000936079, ENST00000952389

RefSeq mRNA: 1 — MANE Select: NM_018011 NM_018011

CCDS: CCDS41906

Canonical transcript exons

ENST00000400198 — 4 exons

Exon	Start	End
ENSE00000854056	106557048	106557131
ENSE00001819559	106541673	106544160
ENSE00002315435	106567573	106568137
ENSE00003502898	106559432	106559657

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 157.7067 / max 3694.3160, expressed in 1826 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
138150	152.3088	1826
138144	2.4337	872
138142	1.2065	578
138145	0.8519	438
138148	0.6560	134
138143	0.2498	115

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	99.48	gold quality
right uterine tube	UBERON:0001302	99.28	gold quality
germinal epithelium of ovary	UBERON:0001304	99.05	gold quality
epithelium of nasopharynx	UBERON:0001951	99.01	gold quality
hair follicle	UBERON:0002073	98.87	gold quality
right lung	UBERON:0002167	98.82	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.73	gold quality
seminal vesicle	UBERON:0000998	98.72	gold quality
skin of hip	UBERON:0001554	98.72	gold quality
superficial temporal artery	UBERON:0001614	98.65	gold quality
left ovary	UBERON:0002119	98.65	gold quality
pylorus	UBERON:0001166	98.64	gold quality
tibial nerve	UBERON:0001323	98.63	gold quality
mucosa of stomach	UBERON:0001199	98.57	gold quality
upper leg skin	UBERON:0004262	98.56	gold quality
body of uterus	UBERON:0009853	98.56	gold quality
cerebellar hemisphere	UBERON:0002245	98.55	gold quality
cerebellar cortex	UBERON:0002129	98.53	gold quality
right ovary	UBERON:0002118	98.51	gold quality
endometrium	UBERON:0001295	98.48	gold quality
blood vessel layer	UBERON:0004797	98.39	gold quality
endocervix	UBERON:0000458	98.38	gold quality
tibia	UBERON:0000979	98.38	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.38	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.36	gold quality
fundus of stomach	UBERON:0001160	98.35	gold quality
lower esophagus	UBERON:0013473	98.35	gold quality
cerebellum	UBERON:0002037	98.34	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.34	gold quality
upper lobe of left lung	UBERON:0008952	98.32	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-97	no	1462.26
E-HCAD-56	no	1103.98
E-MTAB-8271	no	974.43
E-CURD-122	no	19.66
E-GEOD-125970	no	7.11
E-CURD-112	no	1.94
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

109 targeting ARGLU1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 61.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• establish ARGLU1 as a new MED1-interacting protein required for estrogen-dependent gene transcription and breast cancer cell growth. (PMID:21454576)
• ARGLU1 is a novel factor for embryonic development that modulates basal transcription and alternative splicing in neural cells with consequences for glucocorticoid signaling. (PMID:30698747)
• MiR-3613-3p inhibits hypertrophic scar formation by down-regulating arginine and glutamate-rich 1. (PMID:33165823)
• Identification of ARGLU1 as a potential therapeutic target for gastric cancer based on genome-wide functional screening data. (PMID:34157484)
• Distinct biogenesis pathways may have led to functional divergence of the human and Drosophila Arglu1 sisRNA. (PMID:36533631)
• ARGLU1 enhances promoter-proximal pausing of RNA polymerase II and stimulates DNA damage repair. (PMID:38520408)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	arglu1b	ENSDARG00000018319
mus_musculus	Arglu1	ENSMUSG00000040459
rattus_norvegicus	Arglu1	ENSRNOG00000024142
drosophila_melanogaster	Arglu1	FBGN0051712

Protein

Protein identifiers

Arginine and glutamate-rich protein 1 — Q9NWB6 (reviewed: Q9NWB6)

All UniProt accessions (1): Q9NWB6

UniProt curated annotations — full annotation on UniProt →

Function. Dual function regulator of gene expression; regulator of transcription and modulator of alternative splicing. General coactivator of nuclear receptor-induced gene expression, including genes activated by the glucocorticoid receptor NR3C1. Binds to a subset of pre-mRNAs and to components of the spliceosome machinery to directly modulate basal alternative splicing; involved in simple and complex cassette exon splicing events. Binds its own pre-mRNA and regulates its alternative splicing and degradation; one of the alternatively spliced products is a stable intronic sequence RNA (sisRNA) that binds the protein to regulate its ability to affect splicing. Binding of the sisRNA stimulates phase separation and localization to nuclear speckles, which may contribute to activation of nuclear receptor-induced gene expression. May also indirectly modulate alternative splicing. Regulates transcription of genes involved in heart development, neuronal cell function, protein localization and chromatin localization. Regulates splicing of genes involved in neurogenesis and chromatin organization. Essential for central nervous system development. Required for the estrogen-dependent expression of ESR1 target genes. Can act in cooperation with MED1.

Subunit / interactions. Interacts with MED1; the interaction is direct. Interacts with PUF60, U2AF2 and JMJD6; may interact with other proteins involved in RNA processing and splicing.

Subcellular location. Nucleus. Nucleus speckle. Chromosome.

Domain organisation. The N-terminal region can bind RNA; preferentially binds 5’-CGG[AG]GG-3’ motifs. The non-classical LXXLL motifs are not required for nuclear receptor coactivator activity. The C-terminal region is necessary and sufficient for regulation of transcription and nuclear receptor coactivator activity. The C-terminal region is not required for RNA binding.

Induction. Post-transcriptionally regulated by autoregulatory feedback loop. ARGLU1 protein binds ARGLU1 pre-mRNA and stimulates alternative splicing to produce two alternative RNA molecules. The first includes an additional exon between exons 2 and 3 and is rapidly degraded by nonsense mediated decay. The second, a stable intronic sequence RNA (sisRNA), retains the entirety of intron 2 and is able to bind ARGLU1 protein preventing it from stimulating alternative splicing.

Similarity. Belongs to the ARGLU1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NWB6-1	1	yes
Q9NWB6-2	2
Q9NWB6-3	3

RefSeq proteins (1): NP_060481* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033371	ARGLU1	Family

Pfam: PF15346

UniProt features (23 total): modified residue 6, compositionally biased region 5, region of interest 4, splice variant 2, mutagenesis site 2, short sequence motif 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NWB6-F1	75.25	0.48

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 58, 60, 61, 76, 77, 266

Mutagenesis-validated functional residues (2):

Position	Phenotype
172–176	does not disrupt nuclear receptor coactivator activity; on its own or when associated with 201-aeraa-205.
201–205	does not disrupt nuclear receptor coactivator activity; on its own or when associated with 172-aaeea-176.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 216 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, AGGAAGC_MIR5163P, TAATAAT_MIR126, PAL_PRMT5_TARGETS_UP, FISCHER_G1_S_CELL_CYCLE, AAGTCCA_MIR422B_MIR422A, TTTGTAG_MIR520D, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, TTGGGAG_MIR150, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, CTCTAGA_MIR526C_MIR518F_MIR526A, AGTCTTA_MIR499, MCAATNNNNNGCG_UNKNOWN

GO Biological Process (4): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA processing (GO:0006397), RNA splicing (GO:0008380), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (5): transcription coactivator activity (GO:0003713), pre-mRNA binding (GO:0036002), cadherin binding (GO:0045296), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), chromosome (GO:0005694), mitochondrion (GO:0005739), cytosol (GO:0005829), nuclear speck (GO:0016607), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
cellular anatomical structure	2
cytoplasm	2
intracellular membrane-bounded organelle	2
alternative mRNA splicing, via spliceosome	1
regulation of mRNA splicing, via spliceosome	1
mRNA metabolic process	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
RNA binding	1
cell adhesion molecule binding	1
nucleic acid binding	1
binding	1
nuclear lumen	1
intracellular membraneless organelle	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

2216 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARGLU1	CCNQ	Q8N1B3	499
ARGLU1	NDUFAF8	A1L188	490
ARGLU1	U2AF2	P26368	489
ARGLU1	NALF1	B1AL88	434
ARGLU1	SLC9A2	Q9UBY0	402
ARGLU1	SNRNP70	P08621	383
ARGLU1	SLC12A2	P55011	377
ARGLU1	ARMC3	Q5W041	369
ARGLU1	NDUFS5	O43920	364
ARGLU1	PDK4	Q16654	362
ARGLU1	SH3BP5	O60239	361
ARGLU1	ATP5PD	O75947	355
ARGLU1	BMAL2	Q8WYA1	351
ARGLU1	RBM15	Q96T37	348
ARGLU1	DAOA	P59103	348

IntAct

132 interactions, top by confidence:

A	B	Type	Score
CDKN2A	CDK4	psi-mi:“MI:0914”(association)	0.960
CENPA	HJURP	psi-mi:“MI:0914”(association)	0.930
SNRPF	GEMIN2	psi-mi:“MI:0914”(association)	0.910
S100B	S100A4	psi-mi:“MI:0914”(association)	0.870
COMMD1	VPS26C	psi-mi:“MI:0914”(association)	0.730
COMMD4	VPS26C	psi-mi:“MI:0914”(association)	0.730
NHP2	DKC1	psi-mi:“MI:0914”(association)	0.730
ARGLU1	SRPK2	psi-mi:“MI:0217”(phosphorylation reaction)	0.690
SRPK2	ARGLU1	psi-mi:“MI:0915”(physical association)	0.690
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
COMMD6	VPS26C	psi-mi:“MI:0914”(association)	0.640
SNRPA1	U2SURP	psi-mi:“MI:0914”(association)	0.640
SNRPB	SART1	psi-mi:“MI:0914”(association)	0.640
ARGLU1	PUF60	psi-mi:“MI:0915”(physical association)	0.600
ARGLU1	PUF60	psi-mi:“MI:0403”(colocalization)	0.600
ARGLU1	U2AF2	psi-mi:“MI:0915”(physical association)	0.580
ARGLU1	U2AF2	psi-mi:“MI:0403”(colocalization)	0.580
ARGLU1	JMJD6	psi-mi:“MI:0915”(physical association)	0.560
CD151	ITGB1	psi-mi:“MI:0914”(association)	0.530
SMC1A	PDS5B	psi-mi:“MI:0914”(association)	0.530
SRPK2	RRP9	psi-mi:“MI:0914”(association)	0.530
SNRPC	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
EZH1	EPOP	psi-mi:“MI:0914”(association)	0.530
NIFK	RSL1D1	psi-mi:“MI:0914”(association)	0.530
GNL3	IPO5	psi-mi:“MI:0914”(association)	0.480
ARGLU1	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
IK	ARGLU1	psi-mi:“MI:0915”(physical association)	0.400
ARGLU1	HSPA9	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (224): ARGLU1 (Affinity Capture-MS), ARGLU1 (Affinity Capture-MS), ARGLU1 (Affinity Capture-MS), ARGLU1 (Affinity Capture-MS), ARGLU1 (Co-fractionation), ARGLU1 (Co-fractionation), ARGLU1 (Co-fractionation), ARGLU1 (Co-fractionation), PUF60 (Co-fractionation), SUB1 (Co-fractionation), ARGLU1 (Affinity Capture-MS), ARGLU1 (Proximity Label-MS), ARGLU1 (Proximity Label-MS), ARGLU1 (Affinity Capture-MS), ARGLU1 (Affinity Capture-MS)

ESM2 similar proteins: A2RTL5, A6QLS2, B2RY56, O13024, O15042, P0CB26, P12957, P34433, P49756, Q05682, Q0IHP2, Q10580, Q2TA42, Q32N93, Q3UL36, Q4KLS8, Q4KME6, Q4V7C9, Q502P0, Q5BJT0, Q5M9Q1, Q5PQR4, Q5R7X2, Q5R8J6, Q5RG44, Q5U236, Q5XHJ5, Q5ZL35, Q6GNW0, Q6IEG0, Q6NV83, Q6NVM8, Q6NWC9, Q6NWI1, Q6P2W5, Q6P5L7, Q6Y7W6, Q6Y7W8, Q7L4I2, Q7ZVW9

Diamond homologs: Q2TA42, Q3UL36, Q4KLS8, Q5BJT0, Q5ZL35, Q6P2W5, Q6P5L7, Q7ZVW9, Q9NWB6, Q9VL63

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 177 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Developmental Lineage of Mammary Gland Luminal Epithelial Cells	5	18.0×	8e-04
mRNA Splicing	13	11.2×	2e-08
mRNA Splicing - Major Pathway	26	11.2×	2e-17
mRNA Polyadenylation	16	11.1×	4e-10
RNA Polymerase II Transcription Termination	6	10.4×	2e-03
Processing of Capped Intron-Containing Pre-mRNA	16	10.3×	7e-10
snRNP Assembly	6	10.0×	2e-03
Toll Like Receptor 10 (TLR10) Cascade	5	8.5×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of mRNA splicing, via spliceosome	5	24.6×	5e-04
spliceosomal snRNP assembly	6	22.4×	1e-04
mRNA transcription by RNA polymerase II	6	12.7×	2e-03
positive regulation of miRNA transcription	6	11.2×	3e-03
mRNA splicing, via spliceosome	19	11.2×	9e-12
RNA splicing	14	7.9×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

28 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	16
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1340849	GRCh37/hg19 13q33.2-33.3(chr13:106041961-107588983)x1	Likely pathogenic

SpliceAI

734 predictions. Top by Δscore:

Variant	Effect	Δscore
13:106544156:TCGGC:T	acceptor_gain	1.0000
13:106544157:CGGC:C	acceptor_gain	1.0000
13:106544157:CGGCC:C	acceptor_gain	1.0000
13:106544158:GGC:G	acceptor_gain	1.0000
13:106544159:GC:G	acceptor_gain	1.0000
13:106544160:CC:C	acceptor_gain	1.0000
13:106544161:C:CC	acceptor_gain	1.0000
13:106557044:TTA:T	donor_loss	1.0000
13:106557045:TAC:T	donor_loss	1.0000
13:106557046:A:AC	donor_gain	1.0000
13:106557046:AC:A	donor_gain	1.0000
13:106557047:C:CT	donor_gain	1.0000
13:106557047:CC:C	donor_gain	1.0000
13:106557047:CCA:C	donor_gain	1.0000
13:106557047:CCAG:C	donor_gain	1.0000
13:106557047:CCAGT:C	donor_gain	1.0000
13:106557127:TCCTC:T	acceptor_gain	1.0000
13:106557128:CCTCC:C	acceptor_gain	1.0000
13:106557129:CTC:C	acceptor_gain	1.0000
13:106557130:TC:T	acceptor_gain	1.0000
13:106557131:CC:C	acceptor_gain	1.0000
13:106557132:C:CC	acceptor_gain	1.0000
13:106557132:CT:C	acceptor_loss	1.0000
13:106557133:T:C	acceptor_loss	1.0000
13:106557670:CATT:C	acceptor_gain	1.0000
13:106559426:CGTTA:C	donor_loss	1.0000
13:106559427:GTTAC:G	donor_loss	1.0000
13:106559428:TTA:T	donor_loss	1.0000
13:106559429:TA:T	donor_loss	1.0000
13:106559431:C:T	donor_loss	1.0000

AlphaMissense

1759 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:106544017:G:C	F267L	1.000
13:106544017:G:T	F267L	1.000
13:106544019:A:G	F267L	1.000
13:106544032:C:A	R262S	1.000
13:106544032:C:G	R262S	1.000
13:106544033:C:A	R262M	1.000
13:106544033:C:G	R262T	1.000
13:106544051:A:G	L256P	1.000
13:106544054:A:T	I255N	1.000
13:106544129:T:G	Q230P	1.000
13:106557049:A:G	L219P	1.000
13:106557056:C:G	A217P	1.000
13:106557062:C:G	A215P	1.000
13:106557082:T:A	N208I	1.000
13:106557091:A:G	L205P	1.000
13:106557103:A:G	L201P	1.000
13:106557112:C:G	R198P	1.000
13:106559478:A:G	L176P	1.000
13:106559510:T:A	K165N	1.000
13:106559510:T:G	K165N	1.000
13:106559515:C:G	A164P	1.000
13:106559525:C:A	R160S	1.000
13:106559525:C:G	R160S	1.000
13:106559529:C:G	R159P	1.000
13:106559535:A:T	V157D	1.000
13:106559547:A:C	I153S	1.000
13:106559547:A:T	I153N	1.000
13:106559558:C:A	R149S	1.000
13:106559558:C:G	R149S	1.000
13:106559559:C:A	R149M	1.000

dbSNP variants (sampled 300 via entrez): RS1000032373 (13:106563915 G>C), RS1000134529 (13:106559206 C>A), RS1000158033 (13:106570062 C>G), RS1000193398 (13:106553272 T>G), RS1000209970 (13:106552848 A>C), RS1000466484 (13:106558964 T>C), RS1000520502 (13:106545765 A>G), RS1000544065 (13:106551672 G>A), RS1000663899 (13:106547341 G>A), RS1000886298 (13:106556546 C>T), RS1000929460 (13:106563747 C>G,T), RS1000958930 (13:106564104 C>T), RS1000971258 (13:106546102 T>C), RS1000990182 (13:106551333 T>C), RS1001319237 (13:106564738 G>A)

Disease associations

OMIM: gene MIM:614046 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST005352_9	Paclitaxel disposition in epithelial ovarian cancer	7.000000e-06
GCST007576_221	Chronotype	4.000000e-08
GCST009303_3	Abstraction and mental flexibility	9.000000e-06
GCST009391_294	Metabolite levels	5.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype measurement
EFO:0009332	executive function measurement
EFO:0010425	triacylglycerol 54:7 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724757 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.05	IC50	90	nM	MOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 6 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178770: Inhibition of ARGLU1 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.0900	uM

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation	5
bisphenol A	decreases expression, increases methylation, affects cotreatment	3
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment, increases expression	2
Air Pollutants	decreases expression, affects expression, increases abundance	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
mono(2-ethyl-5-oxohexyl)phthalate	affects expression	1
K 7174	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression	1
Leflunomide	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Cadmium	increases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Cannabidiol	increases expression	1
Catechin	affects cotreatment, decreases expression	1
Demecolcine	decreases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697500	Binding	Inhibition of ARGLU1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.