SMU1

Summary

SMU1 (SMU1 DNA replication regulator and spliceosomal factor, HGNC:18247) is a protein-coding gene on chromosome 9p21.1, encoding WD40 repeat-containing protein SMU1 (Q2TAY7). Involved in pre-mRNA splicing as a component of the spliceosome. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).

Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type precatalytic spliceosome.

Source: NCBI Gene 55234 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 39 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_018225

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18247
Approved symbol	SMU1
Name	SMU1 DNA replication regulator and spliceosomal factor
Location	9p21.1
Locus type	gene with protein product
Status	Approved
Aliases	SMU-1, FLJ10805, BWD, fSAP57
Ensembl gene	ENSG00000122692
Ensembl biotype	protein_coding
OMIM	617811
Entrez	55234

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 15 protein_coding

ENST00000397149, ENST00000886408, ENST00000886409, ENST00000886410, ENST00000886411, ENST00000939885, ENST00000939886, ENST00000939887, ENST00000939888, ENST00000939889, ENST00000966129, ENST00000966130, ENST00000966131, ENST00000966132, ENST00000966133

RefSeq mRNA: 1 — MANE Select: NM_018225 NM_018225

CCDS: CCDS6534

Canonical transcript exons

ENST00000397149 — 12 exons

Exon	Start	End
ENSE00000483388	33062049	33062177
ENSE00000695759	33053123	33053290
ENSE00000695760	33056113	33056239
ENSE00000695762	33056837	33056964
ENSE00000695765	33057598	33057714
ENSE00000695766	33060465	33060584
ENSE00000695774	33071740	33071892
ENSE00000832772	33048106	33048258
ENSE00001047051	33073596	33073806
ENSE00001482364	33041765	33047391
ENSE00001482405	33076583	33076674
ENSE00003687137	33068824	33068934

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 91.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.7783 / max 1396.0671, expressed in 1819 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100414	45.6249	1816
100413	8.5851	1760
100409	2.5683	1077

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	91.92	gold quality
globus pallidus	UBERON:0001875	90.14	gold quality
tendon	UBERON:0000043	89.57	gold quality
calcaneal tendon	UBERON:0003701	89.50	gold quality
tendon of biceps brachii	UBERON:0008188	87.50	gold quality
islet of Langerhans	UBERON:0000006	86.73	gold quality
monocyte	CL:0000576	86.71	gold quality
leukocyte	CL:0000738	86.71	gold quality
mononuclear cell	CL:0000842	86.66	gold quality
ventricular zone	UBERON:0003053	86.32	gold quality
Brodmann (1909) area 23	UBERON:0013554	85.29	gold quality
corpus callosum	UBERON:0002336	85.12	gold quality
middle temporal gyrus	UBERON:0002771	85.09	gold quality
adrenal tissue	UBERON:0018303	84.67	gold quality
lateral nuclear group of thalamus	UBERON:0002736	84.60	gold quality
pons	UBERON:0000988	84.59	gold quality
ganglionic eminence	UBERON:0004023	84.34	gold quality
substantia nigra pars compacta	UBERON:0001965	84.13	gold quality
cartilage tissue	UBERON:0002418	84.10	gold quality
parotid gland	UBERON:0001831	84.09	gold quality
muscle of leg	UBERON:0001383	84.08	gold quality
gastrocnemius	UBERON:0001388	84.05	gold quality
embryo	UBERON:0000922	83.90	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.81	gold quality
stromal cell of endometrium	CL:0002255	83.64	gold quality
descending thoracic aorta	UBERON:0002345	83.58	gold quality
popliteal artery	UBERON:0002250	83.49	gold quality
tibial artery	UBERON:0007610	83.49	gold quality
right adrenal gland cortex	UBERON:0035827	83.48	gold quality
ovary	UBERON:0000992	83.41	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.70
E-MTAB-6524	no	103.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

162 targeting SMU1, 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-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-3119	99.92	71.34	2390

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 6)

• Data suggest that Smu1 participates in the protection of genomic integrity by negatively regulating the process of DNA synthesis. (PMID:23727573)
• Data suggest that two human spliceosomal factors, SMU1 and RED, are recruited to control expression and alternative splicing of viral exportins via PB2 (polymerase PB2) of influenza A virus (H3N2) and are required for efficient viral multiplication. (PMID:24945353)
• Results unveil an important role of CRL7(SMU1) E3 ligase in promoting H2B ubiquitylation for maintenance of sister chromatid cohesion during mitosis. (PMID:29507117)
• Investigated and identified antiviral agents targeting the assembly of the human RED-SMU1 splicing complex, and results demonstrate possibility of RED-SMU1 destabilizing molecules to be used in antiviral therapy. (PMID:31076555)
• Smu1 and RED function both as alternative splicing regulators and as general splicing factors and are required predominantly for efficient splicing of short introns. (PMID:31409787)
• SMU1 Knockdown Suppresses Gastric Carcinoma Growth, Migration, and Invasion and Modulates the Cell Cycle. (PMID:39236066)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	smu1a	ENSDARG00000002538
danio_rerio	smu1b	ENSDARG00000051970
mus_musculus	Smu1	ENSMUSG00000028409
rattus_norvegicus	Smu1	ENSRNOG00000007671
drosophila_melanogaster	Smu1	FBGN0038666
caenorhabditis_elegans	smu-1	WBGENE00004895

Protein

Protein identifiers

WD40 repeat-containing protein SMU1 — Q2TAY7 (reviewed: Q2TAY7)

Alternative names: Smu-1 suppressor of mec-8 and unc-52 protein homolog

All UniProt accessions (2): A0MNN4, Q2TAY7

UniProt curated annotations — full annotation on UniProt →

Function. Involved in pre-mRNA splicing as a component of the spliceosome. Regulates alternative splicing of the HSPG2 pre-mRNA. Required for normal accumulation of IK. Required for normal mitotic spindle assembly and normal progress through mitosis. (Microbial infection) Required, together with IK, for normal splicing of influenza A virus NS1 pre-mRNA, which is required for the production of the exportin NS2 and for the production of influenza A virus particles. Not required for the production of VSV virus particles.

Subunit / interactions. Component of the spliceosome B complex. Interacts with IK. (Microbial infection) Identified in a complex with IK and influenza A virus RNA polymerase subunits PB1 and PB2; does not directly interact with the viral proteins by itself.

Subcellular location. Cytoplasm. Nucleus. Nucleus speckle.

Domain organisation. The WD repeats assemble into a seven-bladed WD propeller.

Similarity. Belongs to the WD repeat SMU1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q2TAY7-1	1	yes
Q2TAY7-2	2

RefSeq proteins (1): NP_060695* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR006594	LisH	Conserved_site
IPR006595	CTLH_C	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR045184	SMU1	Family
IPR054532	TPL_SMU1_LisH-like	Domain

Pfam: PF00400, PF17814

UniProt features (40 total): helix 13, repeat 7, sequence conflict 5, strand 5, chain 2, modified residue 2, domain 2, initiator methionine 1, region of interest 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
6Q8J	X-RAY DIFFRACTION	1.8
6Q8F	X-RAY DIFFRACTION	1.9
8H6L	ELECTRON MICROSCOPY	2.6
8H6K	ELECTRON MICROSCOPY	2.7
6Q8I	X-RAY DIFFRACTION	3.17
6AHD	ELECTRON MICROSCOPY	3.8
8QZS	ELECTRON MICROSCOPY	4.1
5O9Z	ELECTRON MICROSCOPY	4.5
8QO9	ELECTRON MICROSCOPY	5.29
9R8V	ELECTRON MICROSCOPY	8.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2TAY7-F1	83.20	0.22

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 (3): 1, 2, 379

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 112 (showing top): GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_RNA_SPLICING, REACTOME_MRNA_SPLICING, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_REGULATION_OF_RNA_SPLICING, REACTOME_METABOLISM_OF_RNA, GOCC_U2_TYPE_SPLICEOSOMAL_COMPLEX, GOCC_NUCLEAR_SPECK, GOCC_PRECATALYTIC_SPLICEOSOME

GO Biological Process (4): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA splicing, via spliceosome (GO:0000398), RNA splicing (GO:0008380), mRNA processing (GO:0006397)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear speck (GO:0016607), U2-type precatalytic spliceosome (GO:0071005), precatalytic spliceosome (GO:0071011)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
mRNA Splicing	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
cellular anatomical structure	2
alternative mRNA splicing, via spliceosome	1
regulation of mRNA splicing, via spliceosome	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
mRNA metabolic process	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
nuclear ribonucleoprotein granule	1
U2-type spliceosomal complex	1
U1 snRNP	1
U2 snRNP	1
U4/U6 x U5 tri-snRNP complex	1
precatalytic spliceosome	1
spliceosomal complex	1

Protein interactions and networks

STRING

1412 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMU1	MFAP1	P55081	834
SMU1	ZMAT2	Q96NC0	826
SMU1	PRPF38A	Q8NAV1	761
SMU1	RNF40	O75150	716
SMU1	DDB1	Q16531	710
SMU1	SF3B3	Q15393	638
SMU1	SART1	O43290	610
SMU1	WBP4	O75554	583
SMU1	PRP4K	Q13523	562
SMU1	PRPF31	Q8WWY3	527
SMU1	PPIH	O43447	501
SMU1	RBM42	Q9BTD8	489
SMU1	RTRAF	Q9Y224	476
SMU1	CUL4B	Q13620	474
SMU1	IK	Q13123	460

IntAct

104 interactions, top by confidence:

A	B	Type	Score
GRB2	EGFR	psi-mi:“MI:0914”(association)	0.980
SMU1	IK	psi-mi:“MI:0915”(physical association)	0.870
IK	SMU1	psi-mi:“MI:0915”(physical association)	0.870
SMU1	MRFAP1L1	psi-mi:“MI:0915”(physical association)	0.830
MRFAP1L1	SMU1	psi-mi:“MI:0915”(physical association)	0.830
PRPF6	SNRNP200	psi-mi:“MI:0914”(association)	0.770
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
SF3B1	SAP18	psi-mi:“MI:0914”(association)	0.640
TLX3	SMU1	psi-mi:“MI:0915”(physical association)	0.560
RASSF10	SMU1	psi-mi:“MI:0915”(physical association)	0.560
SMU1	CERT1	psi-mi:“MI:0915”(physical association)	0.560
SMU1	MRFAP1	psi-mi:“MI:0915”(physical association)	0.560
SMU1	MSS51	psi-mi:“MI:0915”(physical association)	0.560
SMU1	NDUFV1	psi-mi:“MI:0915”(physical association)	0.560
SMU1	WFS1	psi-mi:“MI:0915”(physical association)	0.560
NCBP3	SAP18	psi-mi:“MI:0914”(association)	0.530
SMU1	CD2BP2	psi-mi:“MI:0915”(physical association)	0.500
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410

BioGRID (532): MRFAP1L1 (Two-hybrid), SMU1 (Affinity Capture-MS), SMU1 (Affinity Capture-MS), SMU1 (Affinity Capture-MS), IK (Affinity Capture-MS), FAM172A (Co-fractionation), IK (Co-fractionation), SMU1 (Co-fractionation), SMU1 (Affinity Capture-MS), SMU1 (Two-hybrid), SMU1 (Affinity Capture-MS), SMU1 (Affinity Capture-MS), SMU1 (Affinity Capture-MS), SMU1 (Affinity Capture-MS), SMU1 (Affinity Capture-MS)

ESM2 similar proteins: A0AUS0, A8XXC7, B3RQN1, B6K7R8, C5DF48, E9Q4P1, F4INY4, G5EEG7, O74453, O94394, P38123, P62883, P62884, Q18964, Q25306, Q2KIY3, Q2TAY7, Q2TBS9, Q38SD2, Q3EBD3, Q3MKM6, Q3UHC2, Q3UKJ7, Q5FVN8, Q5JTN6, Q5ZMC3, Q5ZME8, Q67UX0, Q6C953, Q6NRT3, Q6TNS2, Q76B40, Q7ZVA0, Q8BUB4, Q8H594, Q8IWB7, Q8N9V3, Q8SRB0, Q8W117, Q91WQ5

Diamond homologs: G5EEG7, Q2TAY7, Q2TBS9, Q3UKJ7, Q54Y96, Q5ZME8, Q6NRT3, Q6P4J8, Q76B40, Q7ZVA0, Q8W117, Q99M63, Q54KL5, A2RRH5, A6RT32, A8NEG8, A8X8C6, B0LSW3, B2B766, B3MEY6, B3RNR8, B4GAJ1, B4JWA1, B4KT48, B4LQ21, B4MY65, B5X3Z6, B8P4B0, B8PD53, C3XVT5, G0SC29, O24467, O43017, O74184, P0DPA1, P25382, P43033, P43034, P61964, P61965

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 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
mRNA Splicing - Minor Pathway	9	32.0×	5e-10
mRNA Splicing	14	24.4×	5e-14
Processing of Capped Intron-Containing Pre-mRNA	16	20.9×	5e-15
mRNA Splicing - Major Pathway	24	20.8×	2e-23
mRNA Polyadenylation	11	15.3×	7e-09
Dengue Virus-Host Interactions	15	10.9×	4e-10
Metabolism of RNA	16	10.6×	1e-10
CHD1 and CHD2 subfamily	6	10.4×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
RNA splicing, via transesterification reactions	5	39.0×	4e-05
mRNA splicing, via spliceosome	21	24.0×	8e-21
RNA splicing	13	14.3×	2e-09
mRNA processing	7	6.9×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1957 predictions. Top by Δscore:

Variant	Effect	Δscore
9:33047301:T:TA	donor_gain	1.0000
9:33047307:G:C	donor_gain	1.0000
9:33048270:C:CT	acceptor_gain	1.0000
9:33048277:C:T	acceptor_gain	1.0000
9:33056110:A:AC	donor_gain	1.0000
9:33056110:AAC:A	donor_gain	1.0000
9:33056244:CAAA:C	acceptor_gain	1.0000
9:33057592:CCATA:C	donor_loss	1.0000
9:33057593:CATA:C	donor_loss	1.0000
9:33057594:ATACC:A	donor_loss	1.0000
9:33057595:TA:T	donor_loss	1.0000
9:33057596:A:T	donor_loss	1.0000
9:33057597:C:A	donor_loss	1.0000
9:33057711:GATC:G	acceptor_gain	1.0000
9:33057712:ATC:A	acceptor_gain	1.0000
9:33057713:TC:T	acceptor_gain	1.0000
9:33057714:CC:C	acceptor_gain	1.0000
9:33057715:C:CC	acceptor_gain	1.0000
9:33057715:CTA:C	acceptor_loss	1.0000
9:33060459:CTTTA:C	donor_loss	1.0000
9:33060460:TTTA:T	donor_loss	1.0000
9:33060461:TTACC:T	donor_loss	1.0000
9:33060462:TACC:T	donor_loss	1.0000
9:33060464:C:G	donor_loss	1.0000
9:33060580:CCAAA:C	acceptor_gain	1.0000
9:33060581:CAAAC:C	acceptor_gain	1.0000
9:33060585:C:CC	acceptor_gain	1.0000
9:33060591:C:CT	acceptor_gain	1.0000
9:33062044:CCTA:C	donor_loss	1.0000
9:33062045:CTAC:C	donor_loss	1.0000

AlphaMissense

3414 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:33047304:A:G	W511R	1.000
9:33047304:A:T	W511R	1.000
9:33048143:A:G	F469S	1.000
9:33048152:A:G	L466P	1.000
9:33048161:T:A	D463V	1.000
9:33048162:C:G	D463H	1.000
9:33048167:C:T	G461E	1.000
9:33048168:C:A	G461W	1.000
9:33048172:A:C	C459W	1.000
9:33048174:A:G	C459R	1.000
9:33048183:A:G	W456R	1.000
9:33048183:A:T	W456R	1.000
9:33048215:A:G	F445S	1.000
9:33053127:C:A	G429V	1.000
9:33053127:C:T	G429E	1.000
9:33053128:C:A	G429W	1.000
9:33053128:C:G	G429R	1.000
9:33053128:C:T	G429R	1.000
9:33053214:A:T	V400D	1.000
9:33053287:A:G	W376R	1.000
9:33053287:A:T	W376R	1.000
9:33056126:T:A	D370V	1.000
9:33056127:C:G	D370H	1.000
9:33056132:G:A	S368F	1.000
9:33056132:G:T	S368Y	1.000
9:33056137:A:C	S366R	1.000
9:33056137:A:T	S366R	1.000
9:33056139:T:G	S366R	1.000
9:33056180:A:T	V352D	1.000
9:33056182:A:C	F351L	1.000

dbSNP variants (sampled 300 via entrez): RS1000142120 (9:33071495 A>G), RS1000266963 (9:33075308 C>A,T), RS1000333110 (9:33069072 G>A), RS1000387602 (9:33044290 T>C), RS1000392733 (9:33055339 GCTGT>G), RS1000441614 (9:33074219 T>C), RS1000604320 (9:33076726 C>A,G,T), RS1000624658 (9:33048732 G>A), RS1000810376 (9:33068734 G>A), RS1000893911 (9:33066143 C>G), RS1000961609 (9:33060209 T>A), RS1001027085 (9:33058275 T>C), RS1001046804 (9:33072595 C>T), RS1001076520 (9:33070380 T>C), RS1001143130 (9:33051357 A>C)

Disease associations

OMIM: gene MIM:617811 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010396_174	Gut microbiota (bacterial taxa, hurdle binary method)	3.000000e-06
GCST90011899_182	Aspartate aminotransferase levels	8.000000e-33

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725069 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	2
di-n-butylphosphoric acid	affects expression	1
monomethylarsonous acid	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	decreases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Irinotecan	decreases expression	1
Benztropine	affects cotreatment, decreases expression	1
Cuprizone	affects cotreatment, decreases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Diethylstilbestrol	increases expression	1
Ivermectin	decreases expression	1
Lead	decreases expression	1
Ribonucleotides	affects binding	1
Theophylline	increases expression	1
Tobacco Smoke Pollution	affects expression	1
Valproic Acid	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
CHEMBL5697234	Binding	Inhibition of SMU1 (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.