UBXN1

Summary

UBXN1 (UBX domain protein 1, HGNC:18402) is a protein-coding gene on chromosome 11q12.3, encoding UBX domain-containing protein 1 (Q04323). Ubiquitin-binding protein that plays a role in the modulation of innate immune response.

Enables several functions, including enzyme binding activity; polyubiquitin modification-dependent protein binding activity; and proteasome regulatory particle binding activity. Involved in negative regulation of protein metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. Part of VCP-NPL4-UFD1 AAA ATPase complex.

Source: NCBI Gene 51035 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 58 total
• Druggable target: yes
• MANE Select transcript: NM_001286077

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18402
Approved symbol	UBXN1
Name	UBX domain protein 1
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Aliases	LOC51035, 2B28, UBXD10, SAKS1
Ensembl gene	ENSG00000162191
Ensembl biotype	protein_coding
OMIM	616378
Entrez	51035

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 13 protein_coding, 10 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000294119, ENST00000301935, ENST00000436354, ENST00000524762, ENST00000525004, ENST00000525717, ENST00000526919, ENST00000527421, ENST00000528907, ENST00000529640, ENST00000531056, ENST00000531625, ENST00000532904, ENST00000533000, ENST00000533476, ENST00000533908, ENST00000534176, ENST00000616865, ENST00000869311, ENST00000869312, ENST00000869313, ENST00000869314, ENST00000920045, ENST00000920046, ENST00000920047

RefSeq mRNA: 3 — MANE Select: NM_001286077 NM_001286077, NM_001286078, NM_015853

CCDS: CCDS66105, CCDS73307, CCDS8029

Canonical transcript exons

ENST00000301935 — 9 exons

Exon	Start	End
ENSE00001142482	62677518	62677634
ENSE00001194572	62678865	62679073
ENSE00002179495	62676500	62676639
ENSE00003482023	62678339	62678408
ENSE00003562017	62678495	62678601
ENSE00003606382	62678690	62678743
ENSE00003651000	62676813	62677005
ENSE00003684789	62677927	62678118
ENSE00003688603	62677781	62677832

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 141.4855 / max 572.3923, expressed in 1828 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120196	138.3575	1828
120195	3.0237	1582
120197	0.0538	24
120198	0.0505	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	98.49	gold quality
gastrocnemius	UBERON:0001388	98.46	gold quality
granulocyte	CL:0000094	98.38	gold quality
sural nerve	UBERON:0015488	98.37	gold quality
left ovary	UBERON:0002119	98.33	gold quality
muscle of leg	UBERON:0001383	98.31	gold quality
ganglionic eminence	UBERON:0004023	98.26	gold quality
skin of leg	UBERON:0001511	98.21	gold quality
body of uterus	UBERON:0009853	98.18	gold quality
cortical plate	UBERON:0005343	98.15	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.15	gold quality
right ovary	UBERON:0002118	98.14	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.14	gold quality
endocervix	UBERON:0000458	98.12	gold quality
popliteal artery	UBERON:0002250	98.11	gold quality
tibial artery	UBERON:0007610	98.11	gold quality
lower esophagus	UBERON:0013473	98.11	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.11	gold quality
skin of abdomen	UBERON:0001416	98.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	98.02	gold quality
left testis	UBERON:0004533	97.99	gold quality
body of stomach	UBERON:0001161	97.96	gold quality
right lung	UBERON:0002167	97.88	gold quality
right testis	UBERON:0004534	97.87	gold quality
ectocervix	UBERON:0012249	97.87	gold quality
aorta	UBERON:0000947	97.86	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.85	gold quality
descending thoracic aorta	UBERON:0002345	97.75	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.74	gold quality
lower esophagus mucosa	UBERON:0035834	97.74	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-10042	yes	4.07
E-GEOD-106540	no	633.46
E-MTAB-4850	no	621.12
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting UBXN1, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-138-2-3P	98.91	68.33	1643
HSA-MIR-374A-3P	98.87	67.82	1531
HSA-MIR-6838-3P	98.40	65.88	559
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-1302	97.92	67.27	844
HSA-MIR-3622A-5P	97.43	67.11	356
HSA-MIR-4298	97.26	66.59	765
HSA-MIR-6875-5P	96.87	65.49	958
HSA-MIR-3126-5P	96.87	65.83	912
HSA-MIR-4701-5P	96.45	68.41	1121
HSA-MIR-588	96.45	68.36	1127
HSA-MIR-1182	96.41	64.89	336

Literature-anchored findings (GeneRIF, showing 12)

• Specific interaction of rat protein 2B28 with rat Homer2 may play a role in regulation of protein degradation by ubiquitin-proteasome systems and that this function may be specific to Homer2 proteins among Homer family proteins. (PMID:15944415)
• Data suggest that UBXN1 regulates the enzymatic function of BRCA1 in a manner that is dependent on its ubiquitination status. (PMID:20351172)
• SAKS1 inhibits protein degradation mediated by p97 complexes in the cytosol with a component of the mechanism being the ability to shield polyubiquitin chains from ubiquitin-processing factors. (PMID:21135095)
• UBXN1 is induced and recruited to MAVS after virus infection, serving as a brake to prevent excessive RLR signaling, most likely at a late stage of infection. (PMID:23545497)
• UBXN1 is a negative regulator of NF-kappaB signaling. (PMID:25681446)
• p47 promotes, whereas SASK1 delays the degradation of a single ERAD substrate, alpha-TCR. Additionally, we found that SAKS1 selectively inhibits the degradation of ERAD substrates without affecting cytosolic proteasomal substrates. (PMID:27785701)
• The ability of UBXN1 and other family members to negatively regulate the NFkappaB pathway may be important for dampening the host immune response in disease processes and also re-activating quiescent HIV from latent viral reservoirs in chronically infected individuals (PMID:28152074)
• Our results identify how VCP is specifically targeted to ubiquitylated substrates in the BAG6 triage pathway and suggest that the degradation of ubiquitylated clients by the proteasome is reliant on the association of UBXN1 with ubiquitylated substrates and the catalytic activity of VCP. (PMID:29685906)
• LncRNA PRADX-mediated recruitment of PRC2/DDX5 complex suppresses UBXN1 expression and activates NF-kappaB activity, promoting tumorigenesis. (PMID:33754075)
• YTHDF2 facilitates UBXN1 mRNA decay by recognizing METTL3-mediated m(6)A modification to activate NF-kappaB and promote the malignant progression of glioma. (PMID:34246306)
• SUB1 promotes colorectal cancer metastasis by activating NF-kappaB signaling via UBR5-mediated ubiquitination of UBXN1. (PMID:38240906)
• UBXN1 promotes liver tumorigenesis by regulating mitochondrial homeostasis. (PMID:38773518)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ubxn1	ENSDARG00000090309
mus_musculus	Ubxn1	ENSMUSG00000071655
rattus_norvegicus	Ubxn1	ENSRNOG00000019666
drosophila_melanogaster	CG8209	FBGN0035830
caenorhabditis_elegans	ubxn-1	WBGENE00017733

Paralogs (5): TNRC6C (ENSG00000078687), TNRC6A (ENSG00000090905), TNRC6B (ENSG00000100354), UBAC1 (ENSG00000130560), UBXN4 (ENSG00000144224)

Protein

Protein identifiers

UBX domain-containing protein 1 — Q04323 (reviewed: Q04323)

Alternative names: SAPK substrate protein 1, UBA/UBX 33.3 kDa protein

All UniProt accessions (5): A0A087WTZ5, Q04323, E9PJ81, E9PRQ7, E9PS08

UniProt curated annotations — full annotation on UniProt →

Function. Ubiquitin-binding protein that plays a role in the modulation of innate immune response. Blocks both the RIG-I-like receptors (RLR) and NF-kappa-B pathways. Following viral infection, UBXN1 is induced and recruited to the RLR component MAVS. In turn, interferes with MAVS oligomerization, and disrupts the MAVS/TRAF3/TRAF6 signalosome. This function probably serves as a brake to prevent excessive RLR signaling. Interferes with the TNFalpha-triggered NF-kappa-B pathway by interacting with cellular inhibitors of apoptosis proteins (cIAPs) and thereby inhibiting their recruitment to TNFR1. Also prevents the activation of NF-kappa-B by associating with CUL1 and thus inhibiting NF-kappa-B inhibitor alpha/NFKBIA degradation that remains bound to NF-kappa-B. Interacts with the BRCA1-BARD1 heterodimer and regulates its activity. Specifically binds ‘Lys-6’-linked polyubiquitin chains. Interaction with autoubiquitinated BRCA1 leads to the inhibition of the E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer. Component of a complex required to couple deglycosylation and proteasome-mediated degradation of misfolded proteins in the endoplasmic reticulum that are retrotranslocated in the cytosol.

Subunit / interactions. Interacts with MAVS; this interaction prevents MAVS oligomerization and thus disrupts the RLR signaling pathway. Interacts with CUL1; this interaction inhibits CUL1-mediated degradation of NF-kappa-B inhibitors. Interacts with BIRC2/c-IAP1; this interaction prevents TNFalpha-stimulated RIP1 ubiquitination and subsequent NF-kappa-B activation. Component of a complex required to couple retrotranslocation, ubiquitination and deglycosylation composed of NGLY1, SAKS1, AMFR, VCP and RAD23B. Interacts with HOMER2. Interacts directly with VCP. Interacts with BRCA1 and BARD1; interaction takes place when BRCA1 is not autoubiquitinated but is strongly enhanced in the presence of autoubiquitinated BRCA1. (Microbial infection) Interacts (via C-terminal UBX domain) with nipah virus protein V.

Subcellular location. Cytoplasm.

Domain organisation. The UBA domain specifically recognizes and binds ‘Lys-6’-linked polyubiquitin chains.

Isoforms (2)

UniProt ID	Names	Canonical?
Q04323-1	1	yes
Q04323-2	2

RefSeq proteins (3): NP_001273006, NP_001273007, NP_056937 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001012	UBX_dom	Domain
IPR009060	UBA-like_sf	Homologous_superfamily
IPR015940	UBA	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR041923	UBA_UBXN1	Domain

Pfam: PF00789, PF22562

UniProt features (24 total): modified residue 6, compositionally biased region 4, sequence conflict 3, mutagenesis site 2, domain 2, region of interest 2, initiator methionine 1, chain 1, splice variant 1, sequence variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q04323-F1	78.15	0.43

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): 2, 199, 200, 207, 229, 270

Mutagenesis-validated functional residues (2):

Position	Phenotype
13	abolishes binding to ’lys-6’-linked polyubiquitin chains and ability to inhibit e3 ubiquitin-protein ligase activity of
219	does not affect binding to ’lys-6’-linked polyubiquitin chains and ability to inhibit e3 ubiquitin-protein ligase activi

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-532668	N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-5693565	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks

MSigDB gene sets: 212 (showing top): GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, MODULE_52, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, SWEET_KRAS_ONCOGENIC_SIGNATURE, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, MODULE_45, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, USF_C, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, EVI1_05, MODULE_66

GO Biological Process (5): negative regulation of protein ubiquitination (GO:0031397), negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), negative regulation of protein K48-linked deubiquitination (GO:1903094), negative regulation of ERAD pathway (GO:1904293)

GO Molecular Function (8): polyubiquitin modification-dependent protein binding (GO:0031593), ubiquitin protein ligase binding (GO:0031625), K48-linked polyubiquitin modification-dependent protein binding (GO:0036435), ubiquitin binding (GO:0043130), ATPase binding (GO:0051117), K6-linked polyubiquitin modification-dependent protein binding (GO:0071796), proteasome regulatory particle binding (GO:1904855), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), VCP-NPL4-UFD1 AAA ATPase complex (GO:0034098)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Asparagine N-linked glycosylation	1
DNA Double Strand Break Response	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
negative regulation of proteasomal protein catabolic process	2
polyubiquitin modification-dependent protein binding	2
intracellular membrane-bounded organelle	2
cytoplasm	2
protein ubiquitination	1
regulation of protein ubiquitination	1
negative regulation of protein modification by small protein conjugation or removal	1
regulation of proteasomal ubiquitin-dependent protein catabolic process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
negative regulation of ubiquitin-dependent protein catabolic process	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
protein K48-linked deubiquitination	1
negative regulation of protein deubiquitination	1
regulation of protein K48-linked deubiquitination	1
ERAD pathway	1
negative regulation of response to endoplasmic reticulum stress	1
regulation of ERAD pathway	1
modification-dependent protein binding	1
ubiquitin-like protein ligase binding	1
ubiquitin-like protein binding	1
enzyme binding	1
protein-containing complex binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
endomembrane system	1
endoplasmic reticulum membrane	1
UFD1-NPL4 complex	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1

Protein interactions and networks

STRING

1665 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBXN1	MAVS	Q7Z434	821
UBXN1	UBXN7	O94888	745
UBXN1	UBXN6	Q9BZV1	744
UBXN1	FAF1	Q9UNN5	741
UBXN1	UBXN10	Q96LJ8	662
UBXN1	FAF2	Q96CS3	655
UBXN1	UFD1	Q92890	625
UBXN1	UBXN2A	P68543	615
UBXN1	UBXN2B	Q14CS0	598
UBXN1	UBXN8	O00124	597
UBXN1	NSFL1C	Q9UNZ2	578
UBXN1	UBXN11	Q5T124	567
UBXN1	UBXN4	Q92575	549
UBXN1	ASPSCR1	Q9BZE9	538
UBXN1	VCP	P55072	520

IntAct

105 interactions, top by confidence:

A	B	Type	Score
PSMC3	PSMD9	psi-mi:“MI:0914”(association)	0.940
VCP	UBXN1	psi-mi:“MI:0915”(physical association)	0.740
UBXN1	VCP	psi-mi:“MI:0915”(physical association)	0.740
UBXN1	VCP	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
PLAA	UBXN1	psi-mi:“MI:0915”(physical association)	0.670
UBXN1	PLAA	psi-mi:“MI:0915”(physical association)	0.670
PSMC3	PSMD12	psi-mi:“MI:0914”(association)	0.640
YAF2	E2F6	psi-mi:“MI:0914”(association)	0.640
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
UBE2I	UBXN1	psi-mi:“MI:0915”(physical association)	0.560
TRIM39	UBXN1	psi-mi:“MI:0915”(physical association)	0.560
UBXN1	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	UBXN1	psi-mi:“MI:0915”(physical association)	0.560
UBXN1		psi-mi:“MI:0915”(physical association)	0.560
UBXN1	UBE2I	psi-mi:“MI:0915”(physical association)	0.560
UBXN1	TRIM39	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (301): UBXN1 (Two-hybrid), UBXN1 (Two-hybrid), UBXN1 (Two-hybrid), UBXN1 (Two-hybrid), UBXN1 (Two-hybrid), UBXN1 (Two-hybrid), UBXN1 (Two-hybrid), TRIM39 (Two-hybrid), UBXN1 (Affinity Capture-RNA), UBC (Affinity Capture-Western), UBC (Reconstituted Complex), UBC (Reconstituted Complex), VCP (Reconstituted Complex), UBXN1 (Affinity Capture-Western), USP47 (Affinity Capture-MS)

ESM2 similar proteins: D3ZND0, D6REC4, F1MX48, F1SR90, O43290, O60232, P56873, Q04323, Q08CB3, Q0VFV6, Q28GU6, Q2KI76, Q2KIJ6, Q2YD98, Q32KW2, Q32L35, Q32Q90, Q499N6, Q4VA36, Q5BK07, Q5I030, Q5R595, Q5RAS8, Q5T0F9, Q5XIW8, Q5ZK95, Q68EU0, Q6AZH0, Q6NUQ4, Q6PII3, Q86UT8, Q8N511, Q8R344, Q8R3L2, Q8VHV8, Q922Y1, Q99LM2, Q99NH3, Q99PL6, Q9BCZ4

Diamond homologs: A6QR55, E1BMF7, E1BY77, F1QFS9, F6V6I0, F6Z5C0, P45974, P54201, P56399, Q04323, Q11119, Q13107, Q2HJE4, Q32KW2, Q3V0C5, Q499N6, Q5BKP2, Q5R407, Q5RCD3, Q6GL77, Q6GLV4, Q6IP50, Q6NXA9, Q86UV5, Q8C2S0, Q8L6Y1, Q8R5H1, Q922Y1, Q92995, Q949Y0, Q9R085, Q9Y4E8, E2RK09, F1N5V1, F1SRY5, P34547, P39538, Q0V9G5, Q5XGZ2, Q6NTR6

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
UBXN1	up-regulates	Protein_degradation
UBXN1	“up-regulates activity”	NGLY1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 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
Transcriptional Regulation by E2F6	5	24.0×	9e-04
Defective CFTR causes cystic fibrosis	5	18.0×	2e-03
Activation of NF-kappaB in B cells	5	16.1×	2e-03
ER-Phagosome pathway	5	10.6×	7e-03
ABC-family protein mediated transport	5	10.0×	7e-03
KEAP1-NFE2L2 pathway	5	9.8×	7e-03
Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide	5	8.8×	7e-03
Ub-specific processing proteases	8	7.0×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
macroautophagy	6	18.1×	4e-04
proteasome-mediated ubiquitin-dependent protein catabolic process	11	7.2×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

913 predictions. Top by Δscore:

Variant	Effect	Δscore
11:62677512:CAGTA:C	donor_loss	1.0000
11:62677514:GTAC:G	donor_loss	1.0000
11:62677630:CCATA:C	acceptor_gain	1.0000
11:62677631:CATA:C	acceptor_gain	1.0000
11:62677631:CATAC:C	acceptor_gain	1.0000
11:62677633:TA:T	acceptor_gain	1.0000
11:62677633:TACTA:T	acceptor_loss	1.0000
11:62677634:ACTAA:A	acceptor_loss	1.0000
11:62677635:C:CC	acceptor_gain	1.0000
11:62677828:TTTGT:T	acceptor_gain	1.0000
11:62677830:TGT:T	acceptor_gain	1.0000
11:62677831:GT:G	acceptor_gain	1.0000
11:62677832:TC:T	acceptor_loss	1.0000
11:62677833:C:CA	acceptor_loss	1.0000
11:62677833:C:CC	acceptor_gain	1.0000
11:62677834:T:G	acceptor_loss	1.0000
11:62677926:CCTGG:C	donor_gain	1.0000
11:62677936:AACT:A	donor_gain	1.0000
11:62677937:A:AC	donor_gain	1.0000
11:62677937:ACT:A	donor_gain	1.0000
11:62677938:C:CC	donor_gain	1.0000
11:62677938:CTC:C	donor_gain	1.0000
11:62677939:T:TA	donor_gain	1.0000
11:62677940:C:CA	donor_gain	1.0000
11:62677952:C:A	donor_gain	1.0000
11:62677955:T:TA	donor_gain	1.0000
11:62677963:T:A	donor_gain	1.0000
11:62677968:AGCAG:A	donor_gain	1.0000
11:62677982:T:C	donor_gain	1.0000
11:62677986:ATCTT:A	donor_gain	1.0000

AlphaMissense

1898 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:62676968:A:G	F230S	1.000
11:62677522:A:G	I216T	1.000
11:62677522:A:T	I216K	1.000
11:62676625:C:G	A287P	0.999
11:62676630:G:T	P285H	0.999
11:62676636:A:G	L283P	0.999
11:62676824:A:T	L278Q	0.999
11:62676865:G:C	F264L	0.999
11:62676865:G:T	F264L	0.999
11:62676867:A:G	F264L	0.999
11:62676878:A:G	L260S	0.999
11:62676967:G:C	F230L	0.999
11:62676967:G:T	F230L	0.999
11:62676968:A:C	F230C	0.999
11:62676969:A:G	F230L	0.999
11:62676989:C:T	G223E	0.999
11:62677004:A:T	V218D	0.999
11:62677522:A:C	I216R	0.999
11:62677527:A:C	C214W	0.999
11:62678895:A:G	L10P	0.999
11:62676618:A:G	L289P	0.998
11:62676618:A:T	L289H	0.998
11:62676630:G:A	P285L	0.998
11:62676631:G:A	P285S	0.998
11:62676631:G:T	P285T	0.998
11:62676636:A:T	L283H	0.998
11:62676851:A:G	F269S	0.998
11:62676866:A:C	F264C	0.998
11:62676941:A:T	V239E	0.998
11:62676950:A:T	L236Q	0.998

dbSNP variants (sampled 300 via entrez): RS1000431842 (11:62678813 A>G), RS1002618667 (11:62679624 C>T), RS1002630132 (11:62679337 T>C), RS1002649502 (11:62677096 T>A,C), RS1003625562 (11:62681035 A>C), RS1003635527 (11:62680772 C>T), RS1003995659 (11:62679050 G>A,C), RS1004358650 (11:62677093 T>G), RS1004948134 (11:62678128 C>A,T), RS1006357759 (11:62676466 T>G), RS1006360432 (11:62679661 A>C), RS1006385506 (11:62680123 C>T), RS1006482357 (11:62678965 G>A,T), RS1006738817 (11:62677624 C>A,T), RS1006771361 (11:62679091 G>A)

Disease associations

OMIM: gene MIM:616378 | 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
GCST005956_12	Waist-to-hip ratio adjusted for BMI	2.000000e-06
GCST005956_2	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST005962_37	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5.000000e-07
GCST005962_51	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067134 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases phosphorylation, affects binding, increases reaction, affects cotreatment, increases abundance (+1 more)	7
Particulate Matter	increases abundance, increases expression, decreases expression	3
Air Pollutants	affects expression, increases abundance, increases expression	2
Arsenic	increases abundance, increases expression, affects cotreatment	2
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
bufotalin	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
lead acetate	decreases expression	1
trichostatin A	affects expression	1
arsenite	affects binding, increases reaction	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
lactacystin	affects binding, increases reaction	1
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	affects binding, increases reaction	1
perfluorooctane sulfonic acid	increases expression	1
chloropicrin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Atrazine	increases expression	1
Vehicle Emissions	increases abundance, decreases expression	1
Catechin	affects cotreatment, decreases expression	1
Diethylstilbestrol	decreases expression	1
Diuron	decreases expression	1
Doxorubicin	increases expression	1
Drugs, Chinese Herbal	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652761	Binding	Binding affinity to human UBXN1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3KN	Abcam HEK293T UBXN1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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