USO1

Summary

USO1 (USO1 vesicle transport factor, HGNC:30904) is a protein-coding gene on chromosome 4q21.1, encoding General vesicular transport factor p115 (O60763). General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 8615 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 34 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_003715

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30904
Approved symbol	USO1
Name	USO1 vesicle transport factor
Location	4q21.1
Locus type	gene with protein product
Status	Approved
Aliases	TAP, VDP, p115
Ensembl gene	ENSG00000138768
Ensembl biotype	protein_coding
OMIM	603344
Entrez	8615

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 2 retained_intron

ENST00000264904, ENST00000508454, ENST00000512893, ENST00000514213, ENST00000940833, ENST00000944455, ENST00000944456, ENST00000944457, ENST00000944458, ENST00000944459, ENST00000944460, ENST00000944461

RefSeq mRNA: 2 — MANE Select: NM_003715 NM_001290049, NM_003715

CCDS: CCDS75144, CCDS77929

Canonical transcript exons

ENST00000514213 — 24 exons

Exon	Start	End
ENSE00000723684	75810432	75810539
ENSE00000723723	75812160	75812375
ENSE00001193423	75771082	75771137
ENSE00002079964	75724577	75724885
ENSE00003462065	75790643	75790797
ENSE00003479927	75805140	75805303
ENSE00003483911	75790150	75790238
ENSE00003485267	75782680	75782858
ENSE00003487960	75800618	75800799
ENSE00003507683	75770822	75770924
ENSE00003548990	75806486	75806572
ENSE00003550839	75774676	75774796
ENSE00003558427	75804134	75804272
ENSE00003564704	75770439	75770539
ENSE00003574134	75799622	75799732
ENSE00003575950	75787062	75787202
ENSE00003581244	75757497	75757573
ENSE00003600455	75808953	75809051
ENSE00003618916	75800351	75800469
ENSE00003621717	75793690	75793901
ENSE00003676438	75801079	75801200
ENSE00003727741	75752373	75752459
ENSE00003729140	75752540	75752604
ENSE00003755192	75813206	75814286

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 99.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.0496 / max 524.7256, expressed in 1826 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48304	42.2248	1817
48303	18.8249	1799

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gluteal muscle	UBERON:0002000	99.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.25	gold quality
biceps brachii	UBERON:0001507	99.23	gold quality
deltoid	UBERON:0001476	99.12	gold quality
parotid gland	UBERON:0001831	99.05	gold quality
triceps brachii	UBERON:0001509	98.95	gold quality
tibia	UBERON:0000979	98.84	gold quality
diaphragm	UBERON:0001103	98.79	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.76	gold quality
tibialis anterior	UBERON:0001385	98.69	gold quality
corpus epididymis	UBERON:0004359	98.66	gold quality
esophagus squamous epithelium	UBERON:0006920	98.56	gold quality
skeletal muscle tissue	UBERON:0001134	98.49	gold quality
body of tongue	UBERON:0011876	98.34	gold quality
gastrocnemius	UBERON:0001388	98.30	gold quality
muscle of leg	UBERON:0001383	98.16	gold quality
muscle organ	UBERON:0001630	98.15	gold quality
skeletal muscle organ	UBERON:0014892	98.15	gold quality
germinal epithelium of ovary	UBERON:0001304	98.03	gold quality
parietal pleura	UBERON:0002400	97.93	gold quality
oral cavity	UBERON:0000167	97.90	gold quality
vastus lateralis	UBERON:0001379	97.90	gold quality
tongue	UBERON:0001723	97.79	gold quality
jejunum	UBERON:0002115	97.78	gold quality
muscle tissue	UBERON:0002385	97.76	gold quality
quadriceps femoris	UBERON:0001377	97.71	gold quality
pleura	UBERON:0000977	97.70	gold quality
superficial temporal artery	UBERON:0001614	97.67	gold quality
epithelium of esophagus	UBERON:0001976	97.62	gold quality
caput epididymis	UBERON:0004358	97.60	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NRF1

miRNA regulators (miRDB)

70 targeting USO1, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 17)

• Data show that p115 degradation plays a key role in amplifying the apoptotic response independently of Golgi fragmentation. (PMID:12438416)
• p115 acts directly, rather than via a tether, to catalyze trans-SNARE complex formation preceding membrane fusion. (PMID:14736916)
• The results suggest that p115 is involved in vesicular transport between endoplasmic reticulum and the Golgi, along with microtubule networks. (PMID:16256943)
• The interaction between p115 and Cog2 was found to be essential for Golgi ribbon reformation after the disruption of the ribbon by p115 KD or brefeldin A treatment and recovery by re-expression of p115 or drug wash out, respectively. (PMID:17274799)
• Golgi organization depends on mutually interacting domains in betaCOP and p115, suggesting that vesicle tethering at the Golgi involves p115 binding to the COPI coat (PMID:18434597)
• nuclear import of the p115 CTF is required for it to stimulate the apoptotic response and suggest that its mode of action is confined to the nucleus. (PMID:19028683)
• terminal repeat folds into the armadillo superhelical groove and allows homodimeric association with important implications for p115 mediated multiple protein interactions and tethering (PMID:19247479)
• p115 is a critical intermediary component in the regulated secretion of MIF from monocytes/macrophages (PMID:19454686)
• Data show that the number of tandem ARM repeats in an ARM fold ranges from 6 to 12. (PMID:20126549)
• Scyl1 interacts with 58K/formiminotransferase cyclodeaminase (FTCD) and golgin p115, and is required for the maintenance of Golgi morphology. (PMID:20209057)
• a conserved tethering function of the Golgi protein p115 CTF which promotes p53-ERK interaction for the amplification of the apoptotic signal. (PMID:21147777)
• p115 plays a critical role in mitosis progression, implicating it as the only known golgin to regulate both mitosis and apoptosis (PMID:21536679)
• P115 promotes proliferation of gastric cancer cells through an interaction with MIF. (PMID:24379579)
• USO1 gene has a critical role in human colon cancer: USO1 is involved in cell proliferation and cell migration of colon cancer cells. (PMID:26184508)
• USO1 gene may be a promising target for the therapy of human multiple myeloma and its diagnosis marker. (PMID:26898451)
• Focused CRISPR-Cas9 genetic screening reveals USO1 as a vulnerability in B-cell acute lymphoblastic leukemia. (PMID:34162911)
• USO1 isoforms differentially promote liver cancer progression by dysregulating the ER-Golgi network. (PMID:34293111)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	uso1	ENSDARG00000019581
mus_musculus	Uso1	ENSMUSG00000029407
rattus_norvegicus	Uso1	ENSRNOG00000002301
drosophila_melanogaster	p115	FBGN0040087
caenorhabditis_elegans		WBGENE00010713

Protein

Protein identifiers

General vesicular transport factor p115 — O60763 (reviewed: O60763)

Alternative names: Protein USO1 homolog, Transcytosis-associated protein, Vesicle-docking protein

All UniProt accessions (1): O60763

UniProt curated annotations — full annotation on UniProt →

Function. General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity.

Subunit / interactions. Homodimer. Dimerizes by parallel association of the tails, resulting in an elongated structure with two globular head domains side by side, and a long rod-like tail structure. Interacts with MIF.

Subcellular location. Cytoplasm. Cytosol. Golgi apparatus membrane.

Post-translational modifications. Phosphorylated in a cell cycle-specific manner; phosphorylated in interphase but not in mitotic cells. Dephosphorylated protein associates with the Golgi membrane; phosphorylation promotes dissociation.

Domain organisation. Composed of a globular head, an elongated tail (coiled-coil) and a highly acidic C-terminal domain.

Similarity. Belongs to the VDP/USO1/EDE1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O60763-1	1	yes
O60763-2	2

RefSeq proteins (2): NP_001276978, NP_003706* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000225	Armadillo	Repeat
IPR006953	Vesicle_Uso1_P115_head	Domain
IPR006955	Uso1_p115_C	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR024095	Vesicle_P115	Family
IPR041209	P115_Arm_rpt	Repeat

Pfam: PF04869, PF04871, PF18770

UniProt features (77 total): helix 37, repeat 12, sequence conflict 6, modified residue 4, turn 4, region of interest 3, strand 3, compositionally biased region 2, splice variant 2, mutagenesis site 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2W3C	X-RAY DIFFRACTION	2.22

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60763-F1	85.51	0.58

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 (4): 50, 202, 942, 952

Mutagenesis-validated functional residues (2):

Position	Phenotype
942	loss of phosphorylation. promotes association with golgi membranes.
942	decreased association with golgi membranes.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-162658	Golgi Cisternae Pericentriolar Stack Reorganization
R-HSA-204005	COPII-mediated vesicle transport
R-HSA-6807878	COPI-mediated anterograde transport

MSigDB gene sets: 212 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, AHRARNT_01, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, AREB6_01, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER

GO Biological Process (13): intracellular protein transport (GO:0006886), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), small GTPase-mediated signal transduction (GO:0007264), secretory granule localization (GO:0032252), transcytosis (GO:0045056), obsolete Golgi vesicle docking (GO:0048211), vesicle fusion with Golgi apparatus (GO:0048280), membrane fusion (GO:0061025), regulation of cellular response to insulin stimulus (GO:1900076), Golgi organization (GO:0007030), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), Golgi vesicle transport (GO:0048193)

GO Molecular Function (3): RNA binding (GO:0003723), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (12): Golgi membrane (GO:0000139), fibrillar center (GO:0001650), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), Golgi stack (GO:0005795), microtubule organizing center (GO:0005815), cytosol (GO:0005829), ER to Golgi transport vesicle membrane (GO:0012507), membrane (GO:0016020), transport vesicle (GO:0030133), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
ER to Golgi Anterograde Transport	2
Mitotic Prophase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
cytoplasm	5
endomembrane system	3
intracellular protein localization	2
intracellular transport	2
Golgi vesicle transport	2
vesicle-mediated transport	2
transport	2
intracellular membrane-bounded organelle	2
protein transport	1
intercellular transport	1
intracellular signaling cassette	1
vesicle localization	1
multicellular organismal process	1
vesicle fusion	1
Golgi organization	1
membrane organization	1
cellular response to insulin stimulus	1
regulation of response to stimulus	1
regulation of cellular process	1
organelle organization	1
endomembrane system organization	1
establishment of protein localization	1
cellular process	1
nucleic acid binding	1
cell adhesion molecule binding	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
nucleolus	1
Golgi apparatus subcompartment	1
microtubule cytoskeleton	1
COPII-coated ER to Golgi transport vesicle	1
transport vesicle membrane	1
coated vesicle membrane	1
cytoplasmic vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1810 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
USO1	GOLGA2	Q08379	974
USO1	GORASP1	Q9BQQ3	968
USO1	RAB1A	P11476	904
USO1	STX5	Q13190	845
USO1	SCFD1	Q8WVM8	822
USO1	GOLPH3	Q9H4A6	814
USO1	SEC13	P55735	808
USO1	GOLGB1	Q14789	771
USO1	BET1	O15155	735
USO1	GOLGA3	Q08378	708
USO1	TRAPPC3	O43617	692
USO1	RAB6A	P20340	682
USO1	COG2	Q14746	663
USO1	BLZF1	Q9H2G9	658
USO1	NSF	P46459	651

IntAct

159 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
N	USO1	psi-mi:“MI:0915”(physical association)	0.600
USO1	PHYKPL	psi-mi:“MI:0915”(physical association)	0.560
USO1	AKAP9	psi-mi:“MI:0915”(physical association)	0.560
XPO7	USO1	psi-mi:“MI:0915”(physical association)	0.560
DUSP12	USO1	psi-mi:“MI:0915”(physical association)	0.560
PHYKPL	USO1	psi-mi:“MI:0915”(physical association)	0.560
USO1	XPO7	psi-mi:“MI:0915”(physical association)	0.560
USO1	DUSP12	psi-mi:“MI:0915”(physical association)	0.560
AKAP9	USO1	psi-mi:“MI:0915”(physical association)	0.560
C1orf94	USO1	psi-mi:“MI:0914”(association)	0.550
USO1	C1orf94	psi-mi:“MI:0915”(physical association)	0.550
SNRNP27	UBA6	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
EFNB2	FAM171A2	psi-mi:“MI:0914”(association)	0.530
DDX20	GAPDHS	psi-mi:“MI:0914”(association)	0.530
NUP62	RGPD8	psi-mi:“MI:0914”(association)	0.530
CPNE5	RAD21	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530

BioGRID (276): USO1 (Affinity Capture-MS), USO1 (Two-hybrid), AKAP9 (Two-hybrid), DUSP12 (Two-hybrid), XPO7 (Two-hybrid), PHYKPL (Two-hybrid), USO1 (Affinity Capture-RNA), USO1 (Affinity Capture-MS), USO1 (Affinity Capture-MS), USO1 (Affinity Capture-MS), USO1 (Affinity Capture-MS), USO1 (Affinity Capture-MS), USO1 (Affinity Capture-MS), USO1 (Affinity Capture-MS), USO1 (Two-hybrid)

ESM2 similar proteins: A0JN39, A8WGF4, B5DGH9, D2SW95, O00232, O60763, O95782, P17426, P23514, P41541, P53618, P91926, P93768, Q05AY2, Q0JNK5, Q1LUA8, Q29N38, Q2KJ25, Q3B8M3, Q3UGF1, Q4R4I8, Q53PC7, Q5R4J9, Q5R664, Q5R922, Q5RBI3, Q5VQ78, Q5XI83, Q5ZIA5, Q5ZLA5, Q66HV4, Q6DRI1, Q6H8D5, Q6H8D6, Q6N069, Q6NWV3, Q6P7L9, Q7QG73, Q80UM3, Q8BWQ6

Diamond homologs: O60763, P41541, P41542, Q9W3N6, Q9Z1Z0

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
USO1	“up-regulates activity”	GOLGB1	binding
CSNK2B	“up-regulates activity”	USO1	phosphorylation
RAB1A	“up-regulates activity”	USO1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

3405 predictions. Top by Δscore:

Variant	Effect	Δscore
4:75757491:TTCCA:T	acceptor_loss	1.0000
4:75757492:TCCA:T	acceptor_loss	1.0000
4:75757493:CCAGT:C	acceptor_loss	1.0000
4:75757494:CAGTT:C	acceptor_loss	1.0000
4:75757495:A:AG	acceptor_gain	1.0000
4:75757495:A:T	acceptor_loss	1.0000
4:75757496:G:GG	acceptor_gain	1.0000
4:75757496:GTTCA:G	acceptor_gain	1.0000
4:75757569:AGTAG:A	donor_loss	1.0000
4:75757570:GTAG:G	donor_gain	1.0000
4:75757572:AGGT:A	donor_loss	1.0000
4:75757574:G:GG	donor_gain	1.0000
4:75757574:GT:G	donor_loss	1.0000
4:75757575:T:A	donor_loss	1.0000
4:75770507:G:GT	donor_gain	1.0000
4:75770508:A:T	donor_gain	1.0000
4:75770821:GGA:G	acceptor_gain	1.0000
4:75770921:ATGGG:A	donor_loss	1.0000
4:75770922:TGGGT:T	donor_loss	1.0000
4:75770923:GG:G	donor_gain	1.0000
4:75770923:GGGTA:G	donor_loss	1.0000
4:75770924:GG:G	donor_gain	1.0000
4:75770924:GGTA:G	donor_loss	1.0000
4:75770925:G:GA	donor_loss	1.0000
4:75770925:G:GG	donor_gain	1.0000
4:75770926:T:TC	donor_loss	1.0000
4:75771079:TAG:T	acceptor_loss	1.0000
4:75771120:G:T	donor_gain	1.0000
4:75771135:GAT:G	donor_gain	1.0000
4:75771138:G:GG	donor_gain	1.0000

AlphaMissense

6321 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:75771130:G:C	R183P	1.000
4:75774689:T:C	L190P	1.000
4:75774698:T:C	L193P	1.000
4:75774724:A:G	K202E	1.000
4:75774728:T:G	I203S	1.000
4:75774731:T:A	V204D	1.000
4:75774734:C:A	A205D	1.000
4:75774736:T:A	F206I	1.000
4:75774736:T:C	F206L	1.000
4:75774736:T:G	F206V	1.000
4:75774737:T:C	F206S	1.000
4:75774737:T:G	F206C	1.000
4:75774738:T:A	F206L	1.000
4:75774738:T:G	F206L	1.000
4:75782741:T:A	N246K	1.000
4:75782741:T:G	N246K	1.000
4:75787165:T:C	L320P	1.000
4:75787195:T:C	L330P	1.000
4:75790154:T:A	I334K	1.000
4:75790178:G:C	R342P	1.000
4:75790657:T:A	V367E	1.000
4:75790660:T:A	L368H	1.000
4:75790660:T:C	L368P	1.000
4:75790660:T:G	L368R	1.000
4:75790663:T:C	L369P	1.000
4:75790701:C:A	R382S	1.000
4:75790702:G:C	R382P	1.000
4:75790721:T:G	C388W	1.000
4:75790777:T:C	L407P	1.000
4:75793713:G:C	G422R	1.000

dbSNP variants (sampled 300 via entrez): RS1000110019 (4:75773515 G>C), RS1000115849 (4:75781840 T>C), RS1000162691 (4:75800247 A>C,G), RS1000236573 (4:75807591 T>G), RS1000302031 (4:75755484 A>T), RS1000302190 (4:75752856 A>C,G), RS1000321324 (4:75735310 T>C), RS1000364046 (4:75778241 C>T), RS1000373228 (4:75771637 C>A), RS1000413673 (4:75791413 A>G), RS1000421309 (4:75729600 C>G,T), RS1000460853 (4:75793865 T>C), RS1000478083 (4:75745393 T>G), RS1000496423 (4:75786318 G>C,T), RS1000525241 (4:75754029 C>T)

Disease associations

OMIM: gene MIM:603344 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003160_4	Subjective response to lithium treatment in bipolar disorder	7.000000e-07
GCST009172_1	Response to (pegylated) interferon in HBeAg-negative hepatitis B	2.000000e-06
GCST012490_450	Femur bone mineral density x serum urate levels interaction	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007859	response to interferon
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295669 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	3
Tunicamycin	increases expression	3
Cyclosporine	increases expression	3
bisphenol A	affects cotreatment, decreases methylation, increases expression	2
Rotenone	decreases expression, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Copper Sulfate	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression	1
zinc chromate	increases abundance, increases expression	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
chloropicrin	increases expression	1
deguelin	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
bisphenol AF	increases expression	1
Irinotecan	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	decreases expression	1
Benztropine	decreases expression	1
Caffeine	increases phosphorylation	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4118999	Binding	Binding affinity to USO1 in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Clinical trials (associated diseases)

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