USP24
gene geneOn this page
Also known as KIAA1057
Summary
USP24 (ubiquitin specific peptidase 24, HGNC:12623) is a protein-coding gene on chromosome 1p32.3, encoding Ubiquitin carboxyl-terminal hydrolase 24 (Q9UPU5). Ubiquitin-specific protease that regulates cell survival in various contexts through modulating the protein stability of some of its substrates including DDB2, MCL1 or TP53.
Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).
Source: NCBI Gene 23358 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 291 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_015306
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12623 |
| Approved symbol | USP24 |
| Name | ubiquitin specific peptidase 24 |
| Location | 1p32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1057 |
| Ensembl gene | ENSG00000162402 |
| Ensembl biotype | protein_coding |
| OMIM | 610569 |
| Entrez | 23358 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000294383, ENST00000472566, ENST00000480962, ENST00000482197, ENST00000484447, ENST00000512504, ENST00000634589, ENST00000927917, ENST00000927918
RefSeq mRNA: 1 — MANE Select: NM_015306
NM_015306
CCDS: CCDS44154
Canonical transcript exons
ENST00000294383 — 68 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001064819 | 55077235 | 55077300 |
| ENSE00001064828 | 55093937 | 55094087 |
| ENSE00001139439 | 55075457 | 55075523 |
| ENSE00001139457 | 55078538 | 55078651 |
| ENSE00001139465 | 55079538 | 55079659 |
| ENSE00001139476 | 55081322 | 55081424 |
| ENSE00001139504 | 55085942 | 55086038 |
| ENSE00001139510 | 55089627 | 55089740 |
| ENSE00001139516 | 55092023 | 55092126 |
| ENSE00001139522 | 55092821 | 55092916 |
| ENSE00001139535 | 55095255 | 55095396 |
| ENSE00001139544 | 55096498 | 55096622 |
| ENSE00001139555 | 55096952 | 55097172 |
| ENSE00001139565 | 55097598 | 55097717 |
| ENSE00001139572 | 55097943 | 55098084 |
| ENSE00001139580 | 55098476 | 55098558 |
| ENSE00001139585 | 55099771 | 55099869 |
| ENSE00001139590 | 55100839 | 55100964 |
| ENSE00001139599 | 55101584 | 55101703 |
| ENSE00001156674 | 55103876 | 55104020 |
| ENSE00001370828 | 55214790 | 55215364 |
| ENSE00001382948 | 55177967 | 55178132 |
| ENSE00001415442 | 55106146 | 55106263 |
| ENSE00001433950 | 55107239 | 55107430 |
| ENSE00001434462 | 55110185 | 55110246 |
| ENSE00001454764 | 55120596 | 55120756 |
| ENSE00001454765 | 55121436 | 55121506 |
| ENSE00001454766 | 55123447 | 55123602 |
| ENSE00001454767 | 55124469 | 55124628 |
| ENSE00001454768 | 55125320 | 55125548 |
| ENSE00001454769 | 55125663 | 55125758 |
| ENSE00001454770 | 55129477 | 55129574 |
| ENSE00001454771 | 55132545 | 55132700 |
| ENSE00001454772 | 55134070 | 55134163 |
| ENSE00001454773 | 55134328 | 55134413 |
| ENSE00001454774 | 55137515 | 55137688 |
| ENSE00001454775 | 55137806 | 55137904 |
| ENSE00001454776 | 55138608 | 55138718 |
| ENSE00001454777 | 55138944 | 55139010 |
| ENSE00001454778 | 55141616 | 55141731 |
| ENSE00001454779 | 55142742 | 55142795 |
| ENSE00001454780 | 55142979 | 55143119 |
| ENSE00001454781 | 55144127 | 55144203 |
| ENSE00001454786 | 55153870 | 55153917 |
| ENSE00001454788 | 55154371 | 55154466 |
| ENSE00001601173 | 55162199 | 55162264 |
| ENSE00001613119 | 55176376 | 55176443 |
| ENSE00001623489 | 55159611 | 55159685 |
| ENSE00001629856 | 55148463 | 55148570 |
| ENSE00001639761 | 55146929 | 55147060 |
| ENSE00001659875 | 55172377 | 55172520 |
| ENSE00001687516 | 55158878 | 55159036 |
| ENSE00001701698 | 55154119 | 55154280 |
| ENSE00001706381 | 55171556 | 55171678 |
| ENSE00001728065 | 55147649 | 55147798 |
| ENSE00001744360 | 55157256 | 55157370 |
| ENSE00001747335 | 55165885 | 55165950 |
| ENSE00001756617 | 55166568 | 55166603 |
| ENSE00001780813 | 55156948 | 55157051 |
| ENSE00001803592 | 55145998 | 55146109 |
| ENSE00001805718 | 55154671 | 55154778 |
| ENSE00001847641 | 55066359 | 55069107 |
| ENSE00003481075 | 55072786 | 55072861 |
| ENSE00003529998 | 55071814 | 55071924 |
| ENSE00003571309 | 55083272 | 55083364 |
| ENSE00003575373 | 55072317 | 55072403 |
| ENSE00003648271 | 55083772 | 55083888 |
| ENSE00003681127 | 55073828 | 55073906 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 95.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.1843 / max 265.8441, expressed in 1779 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12491 | 12.3430 | 1774 |
| 12492 | 0.8413 | 383 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 95.80 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.96 | gold quality |
| biceps brachii | UBERON:0001507 | 94.84 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.71 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.66 | gold quality |
| muscle of leg | UBERON:0001383 | 94.37 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.03 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 93.92 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.82 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.77 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.76 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.72 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.54 | gold quality |
| cerebellum | UBERON:0002037 | 93.26 | gold quality |
| tibial nerve | UBERON:0001323 | 93.05 | gold quality |
| muscle organ | UBERON:0001630 | 92.94 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 92.94 | gold quality |
| skin of leg | UBERON:0001511 | 92.68 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.46 | gold quality |
| granulocyte | CL:0000094 | 92.42 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.33 | gold quality |
| ventricular zone | UBERON:0003053 | 92.17 | gold quality |
| adipose tissue | UBERON:0001013 | 92.14 | gold quality |
| right lung | UBERON:0002167 | 92.03 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.00 | gold quality |
| connective tissue | UBERON:0002384 | 91.95 | gold quality |
| left ovary | UBERON:0002119 | 91.54 | gold quality |
| zone of skin | UBERON:0000014 | 91.08 | gold quality |
| body of uterus | UBERON:0009853 | 90.92 | gold quality |
| right ovary | UBERON:0002118 | 90.78 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 50.98 |
| E-ANND-3 | yes | 10.14 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFKB
miRNA regulators (miRDB)
204 targeting USP24, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
Literature-anchored findings (GeneRIF, showing 16)
- Data suggest that genetic variants in USP24 affect the risk for late-onset Parkinson disease (PD), which is consistent with the predicted role of the ubiquitination pathway in PD etiology. (PMID:16917932)
- USP24 alone plays a role in PD susceptibility among Taiwanese people >or=60 years of age, or acting synergistically with USP40 and UCHL1 in the total subjects. (PMID:20302855)
- The present study is the first to report a lack of association between SNPs of USP24 and parkinson disease in Han Chinese patients. Other (PMID:22923019)
- The knockdown of USP24 in two human cell lines decreased the steady-state levels of DDB2, indicating that USP24-mediated DDB2 deubiquitination prevents DDB2 degradation. (PMID:23159851)
- These results suggested that USP24 expression is tightly regulated at its transcription level and NFkappaB plays an important role in this process. (PMID:24286619)
- USP24 deubiquitinase regulates the DNA damage response by directly targeting the p53 tumor suppressor. (PMID:25578727)
- the novel compound EOAI3402143 dose-dependently inhibited Usp9x and Usp24 activity, increased tumor cell apoptosis, and fully blocked or regressed myeloma tumors in mice. (PMID:25814533)
- Data show that ubiquitin-specific peptidase 24 (USP24) is highly expressed in cell lines with enhanced malignancy and in late-stage lung cancer clinical samples. (PMID:26568301)
- USP24 level was decreased during the early stage of cancer and the mitotic stage of the cell cycle to regulate its substrates p300, Bax, E2F4 and securin, resulting in decreased cell apoptosis and increased cell cycle progression and, thus, cancer formation. (PMID:27991932)
- Data indicate that ubiquitin specific peptidase 24 (USP24) promotes Interleukin-6 (IL-6) expression, which might be beneficial for cancer therapy. (PMID:30266897)
- The PARK10 gene USP24 is a negative regulator of autophagy and ULK1 protein stability. (PMID:30957634)
- USP24 stabilizes bromodomain containing proteins to promote lung cancer malignancy. (PMID:33257797)
- USP24 Is a Cancer-Associated Ubiquitin Hydrolase, Novel Tumor Suppressor, and Chromosome Instability Gene Deleted in Neuroblastoma. (PMID:33355202)
- USP24-GSDMB complex promotes bladder cancer proliferation via activation of the STAT3 pathway. (PMID:34326684)
- MiR-21-5p promotes sorafenib resistance and hepatocellular carcinoma progression by regulating SIRT7 ubiquitination through USP24. (PMID:37187452)
- USP24 promotes hepatocellular carcinoma tumorigenesis through deubiquitinating and stabilizing TRAF2. (PMID:39127151)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Usp24 | ENSMUSG00000028514 |
| rattus_norvegicus | Usp24 | ENSRNOG00000005802 |
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), USP1 (ENSG00000162607), USP49 (ENSG00000164663), USP38 (ENSG00000170185), USP50 (ENSG00000170236), USP47 (ENSG00000170242), USP32 (ENSG00000170832)
Protein
Protein identifiers
Ubiquitin carboxyl-terminal hydrolase 24 — Q9UPU5 (reviewed: Q9UPU5)
Alternative names: Deubiquitinating enzyme 24, Ubiquitin thioesterase 24, Ubiquitin-specific-processing protease 24
All UniProt accessions (3): A0A0U1RQI9, A0A0U1RRH2, Q9UPU5
UniProt curated annotations — full annotation on UniProt →
Function. Ubiquitin-specific protease that regulates cell survival in various contexts through modulating the protein stability of some of its substrates including DDB2, MCL1 or TP53. Plays a positive role on ferritinophagy where ferritin is degraded in lysosomes and releases free iron.
Subunit / interactions. (Microbial infection) Interacts with human cytomegalovirus protein UL38.
Similarity. Belongs to the peptidase C19 family.
RefSeq proteins (1): NP_056121* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001394 | Peptidase_C19_UCH | Domain |
| IPR009060 | UBA-like_sf | Homologous_superfamily |
| IPR015940 | UBA | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR018200 | USP_CS | Conserved_site |
| IPR028889 | USP | Domain |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR033382 | USP24_UBA | Domain |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR047061 | UBP24_Ubl | Domain |
| IPR050164 | Peptidase_C19 | Family |
| IPR055176 | UBP24/USP9X/USP9Y_UBL | Domain |
| IPR056850 | ARM_UBP34_24_USP9X_Y | Domain |
Pfam: PF00443, PF22900, PF25010
UniProt features (36 total): modified residue 11, region of interest 6, compositionally biased region 5, sequence conflict 5, sequence variant 4, domain 2, active site 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UPU5-F1 | 76.15 | 0.19 |
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): 1698 (nucleophile); 1970 (proton acceptor)
Post-translational modifications (11): 63, 88, 942, 1141, 1285, 1943, 2047, 2077, 2561, 2565, 2604
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689880 | Ub-specific processing proteases |
MSigDB gene sets: 198 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_PROTEOLYSIS, WILSON_PROTEASES_AT_TUMOR_BONE_INTERFACE_UP, DAZARD_UV_RESPONSE_CLUSTER_G6, GOMF_PEPTIDASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_PEPTIDASE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MORF_CDC16
GO Biological Process (3): proteolysis (GO:0006508), protein deubiquitination (GO:0016579), regulation of protein stability (GO:0031647)
GO Molecular Function (5): cysteine-type deubiquitinase activity (GO:0004843), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)
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 |
|---|---|
| cellular anatomical structure | 2 |
| protein metabolic process | 1 |
| cysteine-type deubiquitinase activity | 1 |
| protein modification by small protein removal | 1 |
| regulation of biological quality | 1 |
| cysteine-type peptidase activity | 1 |
| deubiquitinase activity | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1234 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| USP24 | CDCP2 | Q5VXM1 | 890 |
| USP24 | DDB2 | Q92466 | 820 |
| USP24 | HIVEP3 | Q5T1R4 | 799 |
| USP24 | ELAVL4 | P26378 | 790 |
| USP24 | EIF2B3 | Q9NR50 | 773 |
| USP24 | USP13 | Q92995 | 667 |
| USP24 | ZUP1 | Q96AP4 | 590 |
| USP24 | USP5 | P45974 | 587 |
| USP24 | USP14 | P54578 | 545 |
| USP24 | OTUB1 | Q96FW1 | 481 |
| USP24 | BSND | Q8WZ55 | 473 |
| USP24 | OTUD5 | Q96G74 | 462 |
| USP24 | DDB1 | Q16531 | 449 |
| USP24 | USP1 | O94782 | 446 |
| USP24 | UCHL3 | P15374 | 428 |
IntAct
115 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CNOT2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.740 |
| HIF1AN | GMDS | psi-mi:“MI:0914”(association) | 0.640 |
| USP24 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| HTT | USP24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCS1 | NMT2 | psi-mi:“MI:0914”(association) | 0.530 |
| SUV39H1 | MAGEC1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (153): USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Co-fractionation), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS), TP53 (Biochemical Activity), USP24 (Affinity Capture-MS), USP24 (Affinity Capture-MS)
ESM2 similar proteins: A0JNG7, A0JPF5, A0JPG1, A2VE70, B0V207, B1AY13, B4F766, F1QFR9, F1R2X6, O17482, O43156, P49021, P50851, Q05DH4, Q0P4Q0, Q15021, Q4S6U8, Q505K2, Q5PNP1, Q5RAW5, Q5SP90, Q5SSW2, Q5W0V3, Q5ZLW3, Q6DCP6, Q6IN85, Q6INN7, Q6NRP2, Q6P2K6, Q7RTS9, Q80TR8, Q80YR2, Q86V87, Q8CDM8, Q8CHY3, Q8IV36, Q8IY22, Q8K2Z4, Q8NFP9, Q8R1F6
Diamond homologs: A0A0R4IB93, A0JM59, A5PMR2, A5PN09, A6NNY8, A6QNM7, A7Z056, B1AY13, B1WBD7, D2HBJ8, D6RBM5, E1C213, E7F6T8, E9Q9U0, F6Z5C0, F8VPU6, F8VPZ3, M9PD06, O00507, O22207, O60079, O74442, O94269, O94966, O96612, P0C7I0, P0C8Z3, P0CAQ1, P35125, P39538, P40453, P51784, P53874, P55824, P70398, Q01988, Q09738, Q0V9G5, Q28CN3, Q2HJE4
SIGNOR signaling
10 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| USP24 | up-regulates | DDB2 | deubiquitination |
| CDK1 | “down-regulates quantity by destabilization” | USP24 | phosphorylation |
| USP24 | “up-regulates quantity by stabilization” | BAX | deubiquitination |
| USP24 | “up-regulates quantity by stabilization” | EP300 | deubiquitination |
| CyclinB/CDK1 | “down-regulates quantity by destabilization” | USP24 | phosphorylation |
| ATM | “up-regulates activity” | USP24 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
291 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 218 |
| Likely benign | 5 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 599595 | NM_015306.3(USP24):c.7448-7C>T | Likely pathogenic |
SpliceAI
9058 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:55069103:GAACC:G | acceptor_gain | 1.0000 |
| 1:55069104:AACC:A | acceptor_gain | 1.0000 |
| 1:55069105:ACC:A | acceptor_gain | 1.0000 |
| 1:55069106:CC:C | acceptor_gain | 1.0000 |
| 1:55069106:CCC:C | acceptor_gain | 1.0000 |
| 1:55069107:CC:C | acceptor_gain | 1.0000 |
| 1:55069108:C:CC | acceptor_gain | 1.0000 |
| 1:55069108:C:T | acceptor_gain | 1.0000 |
| 1:55071808:TTATA:T | donor_loss | 1.0000 |
| 1:55071809:TATA:T | donor_loss | 1.0000 |
| 1:55071810:ATAC:A | donor_loss | 1.0000 |
| 1:55071812:ACCTG:A | donor_loss | 1.0000 |
| 1:55071813:CCTG:C | donor_gain | 1.0000 |
| 1:55071813:CCTGC:C | donor_loss | 1.0000 |
| 1:55071923:TCCTG:T | acceptor_loss | 1.0000 |
| 1:55071925:CTGC:C | acceptor_loss | 1.0000 |
| 1:55071926:T:A | acceptor_loss | 1.0000 |
| 1:55072311:TCTCA:T | donor_loss | 1.0000 |
| 1:55072312:CTCA:C | donor_loss | 1.0000 |
| 1:55072313:TCAC:T | donor_loss | 1.0000 |
| 1:55072314:CAC:C | donor_loss | 1.0000 |
| 1:55072315:A:C | donor_loss | 1.0000 |
| 1:55072316:C:A | donor_loss | 1.0000 |
| 1:55072401:CAT:C | acceptor_gain | 1.0000 |
| 1:55072403:TC:T | acceptor_loss | 1.0000 |
| 1:55072404:C:CC | acceptor_gain | 1.0000 |
| 1:55072404:CT:C | acceptor_loss | 1.0000 |
| 1:55072781:GTTA:G | donor_loss | 1.0000 |
| 1:55072782:TTA:T | donor_loss | 1.0000 |
| 1:55072783:TA:T | donor_loss | 1.0000 |
AlphaMissense
17204 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:55071903:C:G | A2571P | 1.000 |
| 1:55071908:G:T | A2569D | 1.000 |
| 1:55071909:C:G | A2569P | 1.000 |
| 1:55072321:G:T | A2562D | 1.000 |
| 1:55072330:G:A | T2559I | 1.000 |
| 1:55072338:A:C | F2556L | 1.000 |
| 1:55072338:A:T | F2556L | 1.000 |
| 1:55072339:A:C | F2556C | 1.000 |
| 1:55072339:A:G | F2556S | 1.000 |
| 1:55072340:A:G | F2556L | 1.000 |
| 1:55072796:A:G | L2531P | 1.000 |
| 1:55072800:A:G | W2530R | 1.000 |
| 1:55072800:A:T | W2530R | 1.000 |
| 1:55072818:A:G | W2524R | 1.000 |
| 1:55072818:A:T | W2524R | 1.000 |
| 1:55073851:T:A | K2501N | 1.000 |
| 1:55073851:T:G | K2501N | 1.000 |
| 1:55073853:T:C | K2501E | 1.000 |
| 1:55073865:A:C | Y2497D | 1.000 |
| 1:55081415:A:G | W2329R | 1.000 |
| 1:55081415:A:T | W2329R | 1.000 |
| 1:55089724:A:G | W2191R | 1.000 |
| 1:55089724:A:T | W2191R | 1.000 |
| 1:55095343:A:C | Y2039D | 1.000 |
| 1:55095348:A:G | L2037P | 1.000 |
| 1:55095348:A:T | L2037H | 1.000 |
| 1:55095357:G:T | A2034D | 1.000 |
| 1:55095364:A:G | W2032R | 1.000 |
| 1:55095364:A:T | W2032R | 1.000 |
| 1:55096530:C:T | G2010E | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000016326 (1:55206996 A>C,G), RS1000021167 (1:55180421 A>T), RS1000049358 (1:55072294 C>G,T), RS1000071080 (1:55143885 CAG>C), RS1000104225 (1:55157662 G>A,T), RS1000143625 (1:55131233 T>A), RS1000146437 (1:55066074 C>A,T), RS1000167037 (1:55118086 T>G), RS1000190687 (1:55100032 C>T), RS1000200995 (1:55078481 C>A), RS1000220346 (1:55162782 G>A), RS1000247025 (1:55204160 T>C), RS1000260823 (1:55085059 G>T), RS1000292267 (1:55182297 C>T), RS1000433644 (1:55098968 T>C)
Disease associations
OMIM: gene MIM:610569 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001639_11 | Metabolite levels | 5.000000e-13 |
| GCST002724_11 | Airway responsiveness in chronic obstructive pulmonary disease | 9.000000e-08 |
| GCST002724_7 | Airway responsiveness in chronic obstructive pulmonary disease | 5.000000e-07 |
| GCST004136_4 | Methadone dose in opioid dependence | 2.000000e-06 |
| GCST008159_82 | Waist-to-hip ratio adjusted for BMI | 2.000000e-06 |
| GCST011924_3 | LDL levels x fish oil supplementation interaction (2df) | 3.000000e-31 |
| GCST011926_1 | Total cholesterol levels x fish oil supplementation interaction (2df) | 2.000000e-20 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004723 | coronary artery calcification |
| EFO:0006897 | airway responsiveness measurement |
| EFO:0007907 | methadone dose measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0600007 | fish oil supplement exposure measurement |
| EFO:0004574 | total cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5291599 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs17111584 | USP24 | 0.00 | 0 |
ChEMBL bioactivities
1 potent at pChembl≥5 of 3 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.60 | IC50 | 2500 | nM | CHEMBL4287357 |
PubChem BioAssay actives
1 with measured affinity, of 9 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (E)-2-cyano-3-(3,6-dichloro-2-pyridinyl)-N-[1-[4-(2-morpholin-4-ylethoxy)phenyl]butyl]prop-2-enamide | 1930830: Inhibition of USP24 (unknown origin) | ic50 | 2.5000 | uM |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, affects expression, increases abundance, decreases expression, decreases methylation (+1 more) | 5 |
| Valproic Acid | affects expression, decreases expression | 3 |
| bisphenol F | increases expression, affects cotreatment, decreases expression | 2 |
| trichostatin A | affects expression, increases expression | 2 |
| sodium arsenite | affects cotreatment, increases abundance, decreases expression | 2 |
| Arsenic | increases ubiquitination, affects cotreatment, decreases expression, increases abundance | 2 |
| Cisplatin | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol B | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5234106 | Binding | Inhibition of USP24 (unknown origin) | Recent advances in the development of ubiquitin-specific-processing protease 7 (USP7) inhibitors. — Eur J Med Chem |
Cellosaurus cell lines
2 cell lines: 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3L0 | Abcam HEK293T USP24 KO | Transformed cell line | Female |
| CVCL_TW78 | HAP1 USP24 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.