USP49

Summary

USP49 (ubiquitin specific peptidase 49, HGNC:20078) is a protein-coding gene on chromosome 6p21.1, encoding Ubiquitin carboxyl-terminal hydrolase 49 (Q70CQ1). Deubiquitinase that plays a role in several cellular processes including transcriptional regulation, cell cycle progression or innate immunity.

Enables histone binding activity and peptidase activity. Involved in mRNA splicing, via spliceosome; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and protein deubiquitination. Predicted to be located in nucleoplasm. Predicted to be active in cytoplasm.

Source: NCBI Gene 25862 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 87 total
• Druggable target: yes
• MANE Select transcript: NM_001286554

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20078
Approved symbol	USP49
Name	ubiquitin specific peptidase 49
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC20741
Ensembl gene	ENSG00000164663
Ensembl biotype	protein_coding
Entrez	25862

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 nonsense_mediated_decay

ENST00000373006, ENST00000373010, ENST00000394253, ENST00000423567, ENST00000448078, ENST00000682992, ENST00000884358

RefSeq mRNA: 3 — MANE Select: NM_001286554 NM_001286554, NM_001384542, NM_018561

CCDS: CCDS4861, CCDS69111

Canonical transcript exons

ENST00000682992 — 8 exons

Exon	Start	End
ENSE00001086408	41805628	41807011
ENSE00001086411	41803806	41804010
ENSE00001459284	41891794	41891875
ENSE00001517868	41789896	41796723
ENSE00003476897	41798724	41798929
ENSE00003606910	41799830	41799938
ENSE00003916035	41895324	41895375
ENSE00004472107	41871564	41871637

Expression profiles

Bgee: expression breadth ubiquitous, 225 present calls, max score 89.75.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6243 / max 97.5973, expressed in 709 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73575	1.1429	609
73573	0.2830	134
73574	0.1984	76

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	89.75	gold quality
ganglionic eminence	UBERON:0004023	89.46	gold quality
tibialis anterior	UBERON:0001385	87.76	gold quality
cortical plate	UBERON:0005343	85.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.08	gold quality
upper arm skin	UBERON:0004263	79.96	gold quality
ileal mucosa	UBERON:0000331	79.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.11	gold quality
cerebellar hemisphere	UBERON:0002245	79.09	gold quality
cerebellar cortex	UBERON:0002129	79.01	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.80	gold quality
cerebellum	UBERON:0002037	78.50	gold quality
ventricular zone	UBERON:0003053	78.43	gold quality
sural nerve	UBERON:0015488	77.56	gold quality
left lobe of thyroid gland	UBERON:0001120	77.51	gold quality
middle temporal gyrus	UBERON:0002771	77.13	silver quality
right lobe of thyroid gland	UBERON:0001119	76.87	gold quality
thyroid gland	UBERON:0002046	76.78	gold quality
primary visual cortex	UBERON:0002436	76.47	gold quality
Brodmann (1909) area 23	UBERON:0013554	75.85	silver quality
pancreatic ductal cell	CL:0002079	75.61	silver quality
deltoid	UBERON:0001476	75.54	silver quality
epithelial cell of pancreas	CL:0000083	73.84	gold quality
monocyte	CL:0000576	73.75	gold quality
occipital lobe	UBERON:0002021	73.61	gold quality
stromal cell of endometrium	CL:0002255	73.37	gold quality
leukocyte	CL:0000738	73.30	gold quality
bone marrow	UBERON:0002371	73.17	gold quality
superior frontal gyrus	UBERON:0002661	73.16	gold quality
upper leg skin	UBERON:0004262	73.14	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting USP49, 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-1252-5P	100.00	69.80	2774
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-642A-5P	99.51	65.10	1152
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-3171	99.49	69.06	776
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-1911-5P	98.92	67.53	325
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-7851-3P	98.72	64.88	980

Literature-anchored findings (GeneRIF, showing 13)

• identifies USP49 as a histone H2B-specific deubiquitinase and uncovers a critical role for H2B deubiquitination in cotranscriptional pre-mRNA processing events. (PMID:23824326)
• Mechanistically, USP49 deubiquitinates and stabilizes FKBP51, which in turn enhances PHLPP’s capability to dephosphorylate AKT. (PMID:28363942)
• These findings suggest that USP49 has an important role in DNA damage response and may act as a potential tumor suppressor by forming a positive feedback loop with p53. (PMID:29748582)
• USP49 positively regulated dual-specificity protein phosphatases 1 (DUSP1) expression through deubiquitinating DUSP1 (PMID:30246457)
• USP49 inhibits non-small cell lung cancer cell growth by suppressing PIK3R2/AKT signaling. (PMID:31001918)
• Here, the authors found that USP49 directly interacts with APOBEC3G and efficiently removes ubiquitin, consequently increasing APOBEC3G protein expression and significantly enhancing its anti-HIV-1 activity. (PMID:31397674)
• The long non-coding RNA HLNC1 potentiates hepatocellular carcinoma progression via interaction with USP49. (PMID:32691951)
• Ubiquitin-specific protease 49 attenuates IL-1beta-induced rat primary chondrocyte apoptosis by facilitating Axin deubiquitination and subsequent Wnt/beta-catenin signaling cascade inhibition. (PMID:32737772)
• USP49-Mediated Histone H2B Deubiquitination Regulates HCT116 Cell Proliferation through MDM2-p53 Axis. (PMID:35072515)
• Genome-wide screening for deubiquitinase subfamily identifies ubiquitin-specific protease 49 as a novel regulator of odontogenesis. (PMID:35273362)
• USP49 mediates tumor progression and poor prognosis through a YAP1-dependent feedback loop in gastric cancer. (PMID:35318441)
• c-MYC-USP49-BAG2 axis promotes proliferation and chemoresistance of colorectal cancer cells in vitro. (PMID:35367823)
• USP49 is a novel deubiquitylating enzyme for gamma H2AX in DNA double-strand break repair. (PMID:35598681)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	usp49	ENSDARG00000000229
mus_musculus	Usp49	ENSMUSG00000090115
rattus_norvegicus	Usp49	ENSRNOG00000013866

Paralogs (71): USP2 (ENSG00000036672), USP28 (ENSG00000048028), USP36 (ENSG00000055483), USP13 (ENSG00000058056), USP33 (ENSG00000077254), USP40 (ENSG00000085982), USP48 (ENSG00000090686), USP14 (ENSG00000101557), USP11 (ENSG00000102226), USP10 (ENSG00000103194), USP31 (ENSG00000103404), USP42 (ENSG00000106346), USP5 (ENSG00000111667), USP4 (ENSG00000114316), USP9Y (ENSG00000114374), USP34 (ENSG00000115464), USP35 (ENSG00000118369), USP45 (ENSG00000123552), USP22 (ENSG00000124422), USP9X (ENSG00000124486), USP6 (ENSG00000129204), USP29 (ENSG00000131864), USP26 (ENSG00000134588), USP30 (ENSG00000135093), USP15 (ENSG00000135655), USP37 (ENSG00000135913), USP44 (ENSG00000136014), USP20 (ENSG00000136878), USP8 (ENSG00000138592), USP3 (ENSG00000140455), USP21 (ENSG00000143258), USP43 (ENSG00000154914), USP25 (ENSG00000155313), USP16 (ENSG00000156256), USP24 (ENSG00000162402), USP1 (ENSG00000162607), USP38 (ENSG00000170185), USP50 (ENSG00000170236), USP47 (ENSG00000170242), USP32 (ENSG00000170832)

Protein

Protein identifiers

Ubiquitin carboxyl-terminal hydrolase 49 — Q70CQ1 (reviewed: Q70CQ1)

Alternative names: Deubiquitinating enzyme 49, Ubiquitin thioesterase 49, Ubiquitin-specific-processing protease 49

All UniProt accessions (4): A6PVU3, Q70CQ1, H7BZI7, Q5T3E1

UniProt curated annotations — full annotation on UniProt →

Function. Deubiquitinase that plays a role in several cellular processes including transcriptional regulation, cell cycle progression or innate immunity. Specifically deubiquitinates histone H2B at ‘Lys-120’ (H2BK120Ub), a specific tag for epigenetic transcriptional activation and acts as a regulator of mRNA splicing. Antagonizes DNA double-strand break-induced ubiquitination of H2AX thereby participating in the maintenance of genome integrity. Plays a role in the negative regulation of cell proliferation through the AKT pathway by deubiquitinating FKBP51, leading to enhanced AKT1 dephosphorylation by PHLPP1. Also regulates the mitotic spindle checkpoint and prevents aneuploidy. Negatively regulates cellular antiviral responses via deconjugating ‘Lys-63’-linked ubiquitination of STING1. Significantly enhances the anti-HIV-1 activity of APOBEC3G. Mechanistically, stabilizes APOBEC3G by counteracting HIV-1 Vif-mediated APOBEC3G ubiquitination.

Subunit / interactions. Component of a complex with RUVBL1 and PSMC5. Interacts with centrins CETN1, CETN2 and CETN3.

Subcellular location. Nucleus. Cytoplasm.

Similarity. Belongs to the peptidase C19 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q70CQ1-1	1	yes
Q70CQ1-2	2

RefSeq proteins (3): NP_001273483, NP_001371471, NP_061031 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001394	Peptidase_C19_UCH	Domain
IPR001607	Znf_UBP	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR018200	USP_CS	Conserved_site
IPR028889	USP	Domain
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily
IPR050185	Ub_carboxyl-term_hydrolase	Family

Pfam: PF00443, PF02148

UniProt features (24 total): binding site 12, mutagenesis site 2, region of interest 2, compositionally biased region 2, active site 2, chain 1, domain 1, zinc finger region 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9YC2	X-RAY DIFFRACTION	1.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q70CQ1-F1	71.70	0.28

Functional residue map

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

Catalytic / active sites (2): 262 (nucleophile); 615 (proton acceptor)

Ligand- & substrate-binding residues (12): 6; 26; 29; 38; 41; 46; 53; 57; 63; 76; 79; 4

Mutagenesis-validated functional residues (2):

Position	Phenotype
158	complete loss of interaction with cetn1 and cetn2.
262	loss of deubiquitinase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5689880	Ub-specific processing proteases

MSigDB gene sets: 191 (showing top): RNGTGGGC_UNKNOWN, E2F_Q4, E2F_Q4_01, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, E2F_Q3, GOBP_NEGATIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, ATTACAT_MIR3803P, ZIC1_01, GOBP_RNA_SPLICING, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, HAND1E47_01

GO Biological Process (9): mRNA splicing, via spliceosome (GO:0000398), proteolysis (GO:0006508), protein deubiquitination (GO:0016579), negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898), chromatin organization (GO:0006325), chromatin remodeling (GO:0006338), mRNA processing (GO:0006397), RNA splicing (GO:0008380), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491)

GO Molecular Function (10): cysteine-type endopeptidase activity (GO:0004197), cysteine-type deubiquitinase activity (GO:0004843), zinc ion binding (GO:0008270), histone binding (GO:0042393), histone H2B deubiquitinase activity (GO:0140936), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Deubiquitination	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
cysteine-type peptidase activity	2
cellular anatomical structure	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
protein metabolic process	1
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
negative regulation of intracellular signal transduction	1
cellular component organization	1
chromatin organization	1
mRNA metabolic process	1
intracellular signaling cassette	1
endopeptidase activity	1
deubiquitinase activity	1
transition metal ion binding	1
protein binding	1
histone deubiquitinase activity	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
cation binding	1
nuclear lumen	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1343 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
USP49	BYSL	Q13895	729
USP49	MED20	Q9H944	634
USP49	USP39	Q53GS9	591
USP49	USP13	Q92995	569
USP49	ZUP1	Q96AP4	553
USP49	USP29	Q9HBJ7	545
USP49	USP26	Q9BXU7	490
USP49	USP38	Q8NB14	487
USP49	FRS3	O43559	485
USP49	JOSD1	Q15040	478
USP49	OTUD1	Q5VV17	476
USP49	USP53	Q70EK8	464
USP49	USP28	Q96RU2	461
USP49	USP14	P54578	459
USP49	CCND3	P30281	456

IntAct

20 interactions, top by confidence:

A	B	Type	Score
USP49	FKBP5	psi-mi:“MI:0915”(physical association)	0.560
USP49	CETN3	psi-mi:“MI:0914”(association)	0.530
USP49	Hacd3	psi-mi:“MI:0915”(physical association)	0.400
USP49	HSP90AB1	psi-mi:“MI:0915”(physical association)	0.400
HSF2	USP49	psi-mi:“MI:0915”(physical association)	0.400
USP49		psi-mi:“MI:0915”(physical association)	0.400
NUDCD3	USP49	psi-mi:“MI:0915”(physical association)	0.400
HSP90AA1	USP49	psi-mi:“MI:0915”(physical association)	0.400
USP49	CDC37	psi-mi:“MI:0915”(physical association)	0.400
USP49	FKBP6	psi-mi:“MI:0915”(physical association)	0.400
USP49	STUB1	psi-mi:“MI:0915”(physical association)	0.400
CACYBP	USP49	psi-mi:“MI:0915”(physical association)	0.400
PTGES3	USP49	psi-mi:“MI:0915”(physical association)	0.400
AARSD1	USP49	psi-mi:“MI:0915”(physical association)	0.400
USP49	PPP5C	psi-mi:“MI:0915”(physical association)	0.400
STAMBPL1		psi-mi:“MI:0914”(association)	0.350
USP49	ANKRD28	psi-mi:“MI:0914”(association)	0.350

BioGRID (100): TMEM173 (Affinity Capture-Western), USP49 (Affinity Capture-MS), FKBP5 (Affinity Capture-Western), USP49 (Affinity Capture-Western), USP49 (Reconstituted Complex), FKBP5 (Biochemical Activity), EZH2 (Affinity Capture-Western), USP49 (Affinity Capture-Western), DUSP1 (Affinity Capture-Western), USP49 (Affinity Capture-Western), TP53 (Co-localization), TP53 (Affinity Capture-Western), USP49 (Reconstituted Complex), USP49 (Affinity Capture-Western), CTNNB1 (Affinity Capture-Western)

ESM2 similar proteins: A2AWP8, A2RRU4, A4Q9F4, A6QM06, O95267, P0C0T1, P21580, P97260, Q12770, Q13572, Q14161, Q14CM0, Q29RM4, Q2TBA3, Q3UGM2, Q496Y0, Q4R8W3, Q5MNU5, Q5R5M3, Q5T6S3, Q5XI70, Q60769, Q66H91, Q66T02, Q68FF6, Q69ZK0, Q6GQT6, Q6P9L4, Q6RFZ7, Q6ZPY2, Q6ZWH5, Q70CQ1, Q70EL4, Q70Z35, Q8BYN3, Q8HXH0, Q8NHH1, Q8TBP0, Q8TCU6, Q96GD3

Diamond homologs: A0A8I6GM68, D2HBJ8, F1QCV2, O17323, O27262, O30107, P28606, P38748, P53973, P56523, P56524, P72702, P83038, Q09440, Q0V9G5, Q20296, Q2QWU2, Q3JUN4, Q54QE6, Q569C4, Q57955, Q5A960, Q5R902, Q5XGZ2, Q613L4, Q6NTR6, Q6NZM9, Q6P3E7, Q6P9L4, Q70CQ1, Q70I53, Q7Z569, Q7ZUM8, Q80ZH1, Q8C2B3, Q8C2S0, Q8GXJ1, Q8LRK8, Q8RX28, Q8WUI4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 16 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
ESR-mediated signaling	5	64.2×	7e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein folding	7	48.2×	6e-09
protein stabilization	5	22.3×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2279 predictions. Top by Δscore:

Variant	Effect	Δscore
6:41803804:A:AC	donor_gain	1.0000
6:41803805:C:CC	donor_gain	1.0000
6:41805690:T:TA	donor_gain	1.0000
6:41807030:C:CT	acceptor_gain	1.0000
6:41807030:C:T	acceptor_gain	1.0000
6:41807031:A:T	acceptor_gain	1.0000
6:41871562:AC:A	donor_gain	1.0000
6:41871563:CC:C	donor_gain	1.0000
6:41871638:C:CA	acceptor_loss	1.0000
6:41871639:T:A	acceptor_loss	1.0000
6:41796672:T:TA	donor_gain	0.9900
6:41798722:ACCTC:A	donor_gain	0.9900
6:41798723:CCTCC:C	donor_gain	0.9900
6:41798726:C:A	donor_gain	0.9900
6:41798926:CCAC:C	acceptor_gain	0.9900
6:41798927:CAC:C	acceptor_gain	0.9900
6:41798927:CACC:C	acceptor_gain	0.9900
6:41798928:ACC:A	acceptor_loss	0.9900
6:41798929:CCTAG:C	acceptor_loss	0.9900
6:41798931:T:G	acceptor_loss	0.9900
6:41803798:GCACT:G	donor_loss	0.9900
6:41803799:CACT:C	donor_loss	0.9900
6:41803800:ACTCA:A	donor_loss	0.9900
6:41803801:C:G	donor_loss	0.9900
6:41803802:TC:T	donor_loss	0.9900
6:41803803:C:CC	donor_loss	0.9900
6:41803804:A:T	donor_loss	0.9900
6:41803805:C:A	donor_loss	0.9900
6:41803811:CA:C	donor_gain	0.9900
6:41803834:C:CA	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000017938 (6:41813724 C>T), RS1000029524 (6:41860734 T>C), RS1000033636 (6:41872028 G>A), RS1000074818 (6:41831206 A>G), RS1000087244 (6:41871659 T>C), RS1000103896 (6:41827202 G>A), RS1000141292 (6:41860502 G>GT), RS1000147527 (6:41858755 T>A), RS1000198917 (6:41812549 C>T), RS1000199221 (6:41825491 T>A), RS1000245266 (6:41826935 A>C), RS1000296791 (6:41874662 G>T), RS1000301292 (6:41820232 G>T), RS1000303485 (6:41865257 C>A), RS1000311739 (6:41888978 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST000585_11	Mean corpuscular volume	4.000000e-27
GCST000587_12	Mean corpuscular hemoglobin	2.000000e-20
GCST000588_5	Red blood cell count	1.000000e-10
GCST001781_8	Mean corpuscular volume	9.000000e-08
GCST003269_3	Cutaneous psoriasis	8.000000e-07
GCST004574_10	Skin aging (microtopography measurement)	2.000000e-06
GCST004601_77	Red blood cell count	2.000000e-10
GCST004602_107	Mean corpuscular volume	2.000000e-24
GCST007559_26	Sleep duration (short sleep)	3.000000e-08
GCST012227_978	Hip circumference adjusted for BMI	3.000000e-15
GCST90002390_580	Mean corpuscular hemoglobin	1.000000e-48
GCST90002392_673	Mean corpuscular volume	7.000000e-26
GCST90002396_287	Mean reticulocyte volume	3.000000e-14
GCST90002396_289	Mean reticulocyte volume	8.000000e-53
GCST90002397_132	Mean spheric corpuscular volume	8.000000e-18
GCST90002397_133	Mean spheric corpuscular volume	2.000000e-09
GCST90002399_295	Neutrophil percentage of white cells	1.000000e-12
GCST90002401_522	Platelet distribution width	3.000000e-16
GCST90002403_149	Red blood cell count	1.000000e-21
GCST90002405_190	Reticulocyte count	4.000000e-14
GCST90020028_591	Hip circumference adjusted for BMI	4.000000e-09
GCST90020028_592	Hip circumference adjusted for BMI	2.000000e-11

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count
EFO:0007773	cutaneous psoriasis measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0010701	mean reticulocyte volume
EFO:0007990	neutrophil percentage of leukocytes
EFO:0007984	platelet component distribution width
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5291581 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression	7
trichostatin A	decreases expression, affects expression, affects cotreatment	4
Vorinostat	decreases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
pirinixic acid	increases activity, affects binding, decreases expression	1
beta-lapachone	decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
torcetrapib	increases expression	1
ICG 001	affects expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
NSC 689534	affects binding, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Cadmium	increases abundance, increases expression	1
Copper	increases expression, affects binding	1
Diethylhexyl Phthalate	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Hydrogen Peroxide	affects expression	1
Methyl Methanesulfonate	increases expression	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
CHEMBL5228943	Binding	Binding affinity to biotinylated USP49 zinc finger ubiquitin binding domain (1 to 115 residues) (unknown origin) expressed in Escherichia coli incubated for 120 secs by Biolayer Interferometry assay	Structure-Activity Relationship of USP5 Inhibitors. — J Med Chem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TX06	HAP1 USP49 (-) 1	Cancer cell line	Male
CVCL_TX07	HAP1 USP49 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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