STAMBPL1

Summary

STAMBPL1 (STAM binding protein like 1, HGNC:24105) is a protein-coding gene on chromosome 10q23.31, encoding AMSH-like protease (Q96FJ0). Zinc metalloprotease that specifically cleaves ‘Lys-63’-linked polyubiquitin chains.

Enables K63-linked deubiquitinase activity. Involved in cellular response to L-leucine and positive regulation of TORC1 signaling. Located in membrane.

Source: NCBI Gene 57559 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 70 total
• Druggable target: yes
• MANE Select transcript: NM_020799

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24105
Approved symbol	STAMBPL1
Name	STAM binding protein like 1
Location	10q23.31
Locus type	gene with protein product
Status	Approved
Aliases	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2
Ensembl gene	ENSG00000138134
Ensembl biotype	protein_coding
OMIM	612352
Entrez	57559

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 23 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000371922, ENST00000371924, ENST00000371926, ENST00000371927, ENST00000461650, ENST00000468698, ENST00000863310, ENST00000863311, ENST00000863312, ENST00000863313, ENST00000863314, ENST00000863315, ENST00000863316, ENST00000863317, ENST00000863318, ENST00000863319, ENST00000863320, ENST00000927833, ENST00000927834, ENST00000927835, ENST00000951665, ENST00000951666, ENST00000951667, ENST00000951668, ENST00000951669, ENST00000951670

RefSeq mRNA: 1 — MANE Select: NM_020799 NM_020799

CCDS: CCDS7391

Canonical transcript exons

ENST00000371926 — 11 exons

Exon	Start	End
ENSE00000932783	88905443	88905660
ENSE00000932785	88908702	88908777
ENSE00000932786	88910916	88911011
ENSE00000932787	88913101	88913458
ENSE00000932788	88914534	88914658
ENSE00000932789	88916680	88916817
ENSE00000932790	88921283	88921395
ENSE00000932791	88922337	88922436
ENSE00001456455	88923168	88923487
ENSE00001456460	88901656	88901738
ENSE00003850844	88880245	88880638

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 95.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.3311 / max 139.6380, expressed in 1385 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106076	5.0573	1181
106078	1.6384	828
106077	0.5811	251
106074	0.0417	17
106075	0.0127	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	95.72	gold quality
endothelial cell	CL:0000115	95.53	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.53	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.01	gold quality
middle temporal gyrus	UBERON:0002771	92.84	gold quality
colonic mucosa	UBERON:0000317	92.57	gold quality
primary visual cortex	UBERON:0002436	91.12	gold quality
occipital lobe	UBERON:0002021	90.84	gold quality
epithelial cell of pancreas	CL:0000083	90.52	gold quality
cardiac muscle of right atrium	UBERON:0003379	90.35	gold quality
stromal cell of endometrium	CL:0002255	90.02	gold quality
epithelium of nasopharynx	UBERON:0001951	89.72	gold quality
right adrenal gland	UBERON:0001233	89.62	gold quality
decidua	UBERON:0002450	89.50	gold quality
adrenal tissue	UBERON:0018303	89.38	gold quality
left adrenal gland	UBERON:0001234	89.28	gold quality
sperm	CL:0000019	89.22	gold quality
adrenal gland	UBERON:0002369	89.10	gold quality
right adrenal gland cortex	UBERON:0035827	89.06	gold quality
adrenal cortex	UBERON:0001235	88.83	gold quality
parietal lobe	UBERON:0001872	88.69	gold quality
postcentral gyrus	UBERON:0002581	88.67	gold quality
thymus	UBERON:0002370	88.61	gold quality
superior frontal gyrus	UBERON:0002661	88.47	gold quality
lymph node	UBERON:0000029	88.23	gold quality
left adrenal gland cortex	UBERON:0035825	88.21	gold quality
tendon of biceps brachii	UBERON:0008188	87.52	gold quality
germinal epithelium of ovary	UBERON:0001304	87.46	gold quality
pylorus	UBERON:0001166	87.18	gold quality
mucosa of transverse colon	UBERON:0004991	86.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.00
E-MTAB-7303	no	465.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting STAMBPL1, 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-3163	100.00	77.23	8605
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-6501-3P	98.71	67.45	1480
HSA-MIR-1301-3P	98.64	68.27	1071
HSA-MIR-5047	98.64	68.62	1035
HSA-MIR-6516-5P	98.42	70.19	1551
HSA-MIR-4782-5P	98.35	69.33	1474
HSA-MIR-5706	98.35	69.33	1463
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-3126-3P	97.17	66.51	468
HSA-MIR-1225-5P	96.76	66.85	417

Literature-anchored findings (GeneRIF, showing 15)

• Data show that associated molecule with the SH3 domain of STAM-like protein (AMSH-LP), unlike AMSH, fails to bind to the SH3 domains of STAM1 (signal transducing adaptor molecule 1) and Grb2. (PMID:12810066)
• AMSH and AMSH-LP are anchored on the early endosomal membrane via interaction with the clathrin coat (PMID:16716190)
• AMSH redirects CaR from slow recycling to down-regulation, reducing CaR expression and decreasing PTHrP secretion. (PMID:17426287)
• Cellular STAMBPL1 is a positive regulator of human T-cell leukemia virus type 1 Tax-mediated NF-kappaB signaling. (PMID:22258247)
• Catalytic Mechanism of Human AMSH-LP Domain Deubiquitinating Enzymes (PMID:26256234)
• STAMBPL1 depletion induces prostate cancer cell apoptosis by promoting XIAP lysosomal degradation. (PMID:31004702)
• Honokiol Enhances TRAIL-Mediated Apoptosis through STAMBPL1-Induced Survivin and c-FLIP Degradation. (PMID:31817770)
• Systematic analysis reveals a functional role for STAMBPL1 in the epithelial-mesenchymal transition process across multiple carcinomas. (PMID:32636467)
• The Long Non-Coding RNA NEAT1 Promotes Gastric Cancer Cell Proliferation and Invasion by Regulating miR-103a/ STAMBPL1 Axis. (PMID:33111649)
• Structural and functional characterization of ubiquitin variant inhibitors for the JAMM-family deubiquitinases STAMBP and STAMBPL1. (PMID:34425109)
• Helicobacter pylori-induced reactive oxygen species direct turnover of CSN-associated STAMBPL1 and augment apoptotic cell death. (PMID:35066747)
• E3 ligase RNF167 and deubiquitinase STAMBPL1 modulate mTOR and cancer progression. (PMID:35114100)
• STAMBPL1 promotes breast cancer cell resistance to cisplatin partially by stabilizing MKP-1 expression. (PMID:35236965)
• Unlocking hepatocellular carcinoma aggression: STAMBPL1-mediated TRAF2 deubiquitination activates WNT/PI3K/NF-kb signaling pathway. (PMID:38419066)
• STAMBPL1, transcriptionally regulated by SREBP1, promotes malignant behaviors of hepatocellular carcinoma cells via Wnt/beta-catenin signaling pathway. (PMID:39150093)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	stambpl1	ENSDARG00000003085
mus_musculus	Stambpl1	ENSMUSG00000024776
rattus_norvegicus	Stambpl1	ENSRNOG00000050224
drosophila_melanogaster	CG2224	FBGN0039773

Paralogs (1): STAMBP (ENSG00000124356)

Protein

Protein identifiers

AMSH-like protease — Q96FJ0 (reviewed: Q96FJ0)

Alternative names: STAM-binding protein-like 1

All UniProt accessions (1): Q96FJ0

UniProt curated annotations — full annotation on UniProt →

Function. Zinc metalloprotease that specifically cleaves ‘Lys-63’-linked polyubiquitin chains. Acts as a positive regulator of the TORC1 signaling pathway by mediating ‘Lys-63’-linked deubiquitination of SESN2, thereby inhibiting SESN2-interaction with the GATOR2 complex. Does not cleave ‘Lys-48’-linked polyubiquitin chains.

Tissue specificity. Ubiquitously expressed.

Activity regulation. Inhibited by UbV(SP.1), an ubiquitin variant that also inhibits STAMBP.

Cofactor. Binds 2 Zn(2+) ions per subunit.

Domain organisation. The JAMM motif is essential for the protease activity.

Similarity. Belongs to the peptidase M67C family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96FJ0-1	1	yes
Q96FJ0-2	2

RefSeq proteins (1): NP_065850* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000555	JAMM/MPN+_dom	Domain
IPR015063	USP8_dimer	Domain
IPR037518	MPN	Domain
IPR044098	STAMBP/STALP-like_MPN	Domain

Pfam: PF01398, PF08969

UniProt features (47 total): strand 12, mutagenesis site 11, binding site 7, helix 5, modified residue 3, sequence variant 3, chain 1, domain 1, site 1, splice variant 1, short sequence motif 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2ZNR	X-RAY DIFFRACTION	1.2
2ZNV	X-RAY DIFFRACTION	1.6
7L97	X-RAY DIFFRACTION	2.01

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96FJ0-F1	84.00	0.73

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 (1): 292 (indirect zinc-binding)

Ligand- & substrate-binding residues (7): 347; 349; 360; 362; 402; 408; 410

Post-translational modifications (3): 1, 25, 242

Mutagenesis-validated functional residues (11):

Position	Phenotype
292	complete loss of catalytic activity.
329	3-fold decrease in substrate affinity.
332	12-fold decrease in substrate affinity, little effect on catalytic activity.
353	19-fold decrease in activity, no change in substrate affinity.
355	161-fold decrease in activity, no change in substrate affinity.
357	34-fold decrease in activity.
358	10-fold decrease in activity, no change in substrate affinity.
360	complete loss of catalytic activity.
370	18-fold decrease in substrate affinity, little effect on catalytic activity.
402	402-fold decrease in activity, slight increase in substrate affinity.
407	35-fold decrease in activity, slight increase in substrate affinity.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5689901	Metalloprotease DUBs
R-HSA-392499	Metabolism of proteins
R-HSA-5688426	Deubiquitination
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 186 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_RESPONSE_TO_ACID_CHEMICAL, MODULE_255, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MODULE_317, GOBP_CELLULAR_RESPONSE_TO_ACID_CHEMICAL, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND

GO Biological Process (9): proteolysis (GO:0006508), protein deubiquitination (GO:0016579), protein K63-linked deubiquitination (GO:0070536), cellular response to L-leucine (GO:0071233), positive regulation of TORC1 signaling (GO:1904263), cellular response to nutrient levels (GO:0031669), protein K6-linked ubiquitination (GO:0085020), negative regulation of TORC1 signaling (GO:1904262), cellular response to leucine starvation (GO:1990253)

GO Molecular Function (7): metal ion binding (GO:0046872), K63-linked deubiquitinase activity (GO:0061578), metal-dependent deubiquitinase activity (GO:0140492), protein binding (GO:0005515), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787)

GO Cellular Component (3): endosome (GO:0005768), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Deubiquitination	1
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
TORC1 signaling	2
regulation of TORC1 signaling	2
deubiquitinase activity	2
cellular anatomical structure	2
protein metabolic process	1
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
protein deubiquitination	1
response to L-leucine	1
cellular response to amino acid stimulus	1
cellular response to nitrogen compound	1
cellular response to oxygen-containing compound	1
positive regulation of TOR signaling	1
response to nutrient levels	1
cellular response to stimulus	1
protein polyubiquitination	1
negative regulation of TOR signaling	1
cellular response to amino acid starvation	1
cation binding	1
metallopeptidase activity	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
endomembrane system	1
cytoplasmic vesicle	1
cytoplasm	1

Protein interactions and networks

STRING

2142 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STAMBPL1	ZUP1	Q96AP4	917
STAMBPL1	COPS5	Q92905	847
STAMBPL1	FOXM1	Q08050	693
STAMBPL1	BRCC3	P46736	654
STAMBPL1	MYSM1	Q5VVJ2	612
STAMBPL1	MPND	Q8N594	612
STAMBPL1	USP20	Q9Y2K6	589
STAMBPL1	ANKRD22	Q5VYY1	578
STAMBPL1	USP8	P40818	574
STAMBPL1	JOSD2	Q8TAC2	569
STAMBPL1	ZRANB1	Q9UGI0	556
STAMBPL1	COPS6	Q7L5N1	554
STAMBPL1	USP5	P45974	549
STAMBPL1	JOSD1	Q15040	545
STAMBPL1	PSMD7	P51665	537

IntAct

113 interactions, top by confidence:

A	B	Type	Score
STAMBPL1	MAGEA6	psi-mi:“MI:0915”(physical association)	0.780
RAB2A	STAMBPL1	psi-mi:“MI:0915”(physical association)	0.780
STAMBPL1	RAB2A	psi-mi:“MI:0915”(physical association)	0.780
MAGEA6	STAMBPL1	psi-mi:“MI:0915”(physical association)	0.780
TRIM27	STAMBPL1	psi-mi:“MI:0915”(physical association)	0.720
STAMBPL1	CEP72	psi-mi:“MI:0915”(physical association)	0.720
CEP72	STAMBPL1	psi-mi:“MI:0915”(physical association)	0.720
STAMBPL1	TRIM27	psi-mi:“MI:0915”(physical association)	0.720
MAGEA3	STAMBPL1	psi-mi:“MI:0915”(physical association)	0.700
STAMBPL1	PIK3C2A	psi-mi:“MI:0914”(association)	0.640
STAMBPL1	TCF4	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	STAMBPL1	psi-mi:“MI:0915”(physical association)	0.560
STAMBPL1	INCA1	psi-mi:“MI:0915”(physical association)	0.560
GNPTAB	STAMBPL1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (117): STAMBPL1 (Two-hybrid), STAMBPL1 (Two-hybrid), STAMBPL1 (Two-hybrid), STAMBPL1 (Two-hybrid), STAMBPL1 (Two-hybrid), STAMBPL1 (Two-hybrid), STAMBPL1 (Two-hybrid), STAMBPL1 (Two-hybrid), STAMBPL1 (Two-hybrid), GNPTAB (Two-hybrid), INCA1 (Two-hybrid), STAMBPL1 (Two-hybrid), STAMBPL1 (Proximity Label-MS), RAB2A (Two-hybrid), STAMBPL1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M3B525, A2AHJ4, A5PJP6, B0KWU8, B2RYM5, B5X8M4, E1C3P4, E9Q4Z2, O00763, O42611, O94967, O95630, P46736, P46737, P48553, Q15386, Q15542, Q3TLI0, Q4VA72, Q5KSL6, Q5R558, Q5R9L6, Q5RAQ5, Q5VVJ2, Q641K1, Q66GV6, Q66H62, Q69Z66, Q6RI45, Q6WKZ8, Q76N33, Q7M757, Q80U95, Q8BPM2, Q8CGF6, Q8IVH8, Q8QFR2, Q8TAT6, Q8VDD9, Q8W206

Diamond homologs: O95630, Q54Q40, Q5PNU3, Q5R558, Q63ZM7, Q6NKP9, Q6TH47, Q76N33, Q8R424, Q8VYB5, Q96FJ0, Q9CQ26, Q9P371, A6ZXB7, B3LH96, B5FY35, B5RI54, O00487, O15372, O35593, O35864, O76577, O94454, P0CQ24, P0CQ25, P41878, P41883, P43588, P91001, Q12468, Q4IJM4, Q4P804, Q4WZP2, Q54PF3, Q54Z40, Q56JZ5, Q59PG6, Q5BBF1, Q5PPY6, Q5ZLE6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 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.

GO biological processes:

GO term	Partners	Fold	FDR
Golgi organization	5	17.1×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2870 predictions. Top by Δscore:

Variant	Effect	Δscore
10:88882602:G:GT	donor_gain	1.0000
10:88905441:A:AG	acceptor_gain	1.0000
10:88905442:G:GG	acceptor_gain	1.0000
10:88905442:GAAA:G	acceptor_gain	1.0000
10:88905611:G:GT	donor_gain	1.0000
10:88905618:G:GT	donor_gain	1.0000
10:88905619:A:T	donor_gain	1.0000
10:88905627:A:T	donor_gain	1.0000
10:88908700:A:AG	acceptor_gain	1.0000
10:88908701:G:GG	acceptor_gain	1.0000
10:88908701:GCTT:G	acceptor_gain	1.0000
10:88908701:GCTTA:G	acceptor_gain	1.0000
10:88910911:A:AG	acceptor_gain	1.0000
10:88910912:A:G	acceptor_gain	1.0000
10:88914532:A:AG	acceptor_gain	1.0000
10:88914533:G:GG	acceptor_gain	1.0000
10:88922327:T:TA	acceptor_gain	1.0000
10:88922435:GT:G	donor_gain	1.0000
10:88922437:G:GG	donor_gain	1.0000
10:88938055:CAGTA:C	donor_loss	1.0000
10:88938056:AGTAC:A	donor_loss	1.0000
10:88938057:GTACC:G	donor_loss	1.0000
10:88938058:TA:T	donor_loss	1.0000
10:88938059:A:C	donor_loss	1.0000
10:88938060:C:G	donor_loss	1.0000
10:88938240:TCC:T	acceptor_gain	1.0000
10:88938241:CCC:C	acceptor_gain	1.0000
10:88938243:C:CC	acceptor_gain	1.0000
10:88938243:CTGG:C	acceptor_loss	1.0000
10:88939694:CTCAG:C	acceptor_gain	1.0000

AlphaMissense

2898 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:88916809:T:A	W345R	0.999
10:88916809:T:C	W345R	0.999
10:88905498:G:C	R29P	0.998
10:88910965:T:C	L125P	0.998
10:88921304:T:C	F355L	0.998
10:88921306:T:A	F355L	0.998
10:88921306:T:G	F355L	0.998
10:88921323:T:C	L361P	0.998
10:88922401:T:C	F407L	0.998
10:88922403:T:A	F407L	0.998
10:88922403:T:G	F407L	0.998
10:88914651:G:A	G299E	0.997
10:88916807:G:A	G344E	0.997
10:88921313:A:C	S358R	0.997
10:88921315:C:A	S358R	0.997
10:88921315:C:G	S358R	0.997
10:88921368:C:A	A376D	0.997
10:88921374:T:A	V378D	0.997
10:88905576:G:A	G55E	0.996
10:88908719:T:C	L89P	0.996
10:88914645:T:A	L297H	0.996
10:88916795:T:C	L340P	0.996
10:88916811:G:C	W345C	0.996
10:88916811:G:T	W345C	0.996
10:88921361:G:C	A374P	0.996
10:88916806:G:A	G344R	0.995
10:88916806:G:C	G344R	0.995
10:88921286:C:G	H349D	0.995
10:88905563:T:G	Y51D	0.994
10:88905596:G:C	A62P	0.994

dbSNP variants (sampled 300 via entrez): RS1000047198 (10:88887278 T>G), RS1000066976 (10:88887818 A>G), RS1000253674 (10:88907059 C>T), RS1000320145 (10:88921098 T>C), RS1000467854 (10:88894331 G>A), RS1000496983 (10:88892979 C>A), RS1000672394 (10:88886192 T>C), RS1000758186 (10:88899740 C>T), RS1000834976 (10:88887886 G>A), RS1000913845 (10:88918188 C>G), RS1000956609 (10:88918632 T>C,G), RS1001049571 (10:88919672 C>A,G), RS1001128890 (10:88885918 T>G), RS1001142323 (10:88879291 T>C), RS1001221968 (10:88887200 A>C)

Disease associations

OMIM: gene MIM:612352 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4630848 (SINGLE PROTEIN)

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

Binding affinities (BindingDB)

30 measured of 32 human assays (32 total across all organisms); most potent 30 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
N-(pyridin-4-ylmethyl)-8-sulfanylquinoline-3-carboxamide	IC50	200 nM	US-10005735: Inhibitors of RPN11
N-[3-[5-[(3aS,4S,6aR)-2-oxo-1,3,3a,4,6,6a-hexahydrothieno[3,4-d]imidazol-4-yl]pentanoylamino]propyl]-8-sulfanylquinoline-3-carboxamide	IC50	200 nM	US-10005735: Inhibitors of RPN11
8-sulfanyl-N-(2-thiophen-2-ylethyl)quinoline-3-carboxamide	IC50	300 nM	US-10005735: Inhibitors of RPN11
Capzimin	IC50	340 nM	US-10005735: Inhibitors of RPN11
N-[2-[2-[2-[2-[5-[(3aS,4S,6aR)-2-oxo-1,3,3a,4,6,6a-hexahydrothieno[3,4-d]imidazol-4-yl]pentanoylamino]ethoxy]ethoxy]ethoxy]ethyl]-8-sulfanylquinoline-3-carboxamide	IC50	400 nM	US-10005735: Inhibitors of RPN11
8-sulfanyl-N-(1,3-thiazol-2-yl)quinoline-3-carboxamide	IC50	450 nM	US-10005735: Inhibitors of RPN11
8-sulfanyl-N-(1,3-thiazol-2-ylmethyl)quinoline-3-carboxamide	IC50	500 nM	US-10005735: Inhibitors of RPN11
N-[2-(4,5-dimethyl-1,3-thiazol-2-yl)ethyl]-8-sulfanylquinoline-3-carboxamide	IC50	500 nM	US-10005735: Inhibitors of RPN11
8-sulfanyl-N-[[4-(trifluoromethyl)phenyl]methyl]quinoline-3-carboxamide	IC50	700 nM	US-10005735: Inhibitors of RPN11
8-sulfanyl-N-(2-thiophen-2-ylethyl)quinoline-4-carboxamide	IC50	700 nM	US-10005735: Inhibitors of RPN11
ethyl 2-[2-[(8-sulfanylquinoline-3-carbonyl)amino]ethyl]-1,3-thiazole-4-carboxylate	IC50	700 nM	US-10005735: Inhibitors of RPN11
8-sulfanyl-N-(thiophen-2-ylmethyl)quinoline-3-carboxamide	IC50	800 nM	US-10005735: Inhibitors of RPN11
N-[(4-morpholin-4-ylphenyl)methyl]-8-sulfanylquinoline-3-carboxamide	IC50	800 nM	US-10005735: Inhibitors of RPN11
N-(furan-2-ylmethyl)-8-sulfanylquinoline-3-carboxamide	IC50	900 nM	US-10005735: Inhibitors of RPN11
N-(1,3-benzodioxol-5-ylmethyl)-8-sulfanylquinoline-3-carboxamide	IC50	900 nM	US-10005735: Inhibitors of RPN11
8-sulfanylquinoline-3-carboxamide	IC50	1000 nM	US-10005735: Inhibitors of RPN11
N-[2-(furan-2-yl)ethyl]-8-sulfanylquinoline-4-carboxamide	IC50	1000 nM	US-10005735: Inhibitors of RPN11
N-benzyl-8-sulfanylquinoline-3-carboxamide	IC50	1100 nM	US-10005735: Inhibitors of RPN11
4-methyl-2-[2-[(8-sulfanylquinoline-3-carbonyl)amino]ethyl]-1,3-thiazole-5-carboxylic acid	IC50	1100 nM	US-10005735: Inhibitors of RPN11
N-[2-(furan-2-yl)ethyl]-8-sulfanylquinoline-3-carboxamide	IC50	1200 nM	US-10005735: Inhibitors of RPN11
8-sulfanyl-N-(thiophen-2-ylmethyl)quinoline-4-carboxamide	IC50	1200 nM	US-10005735: Inhibitors of RPN11
N-methyl-8-sulfanylquinoline-3-carboxamide	IC50	1600 nM	US-10005735: Inhibitors of RPN11
N-(furan-2-ylmethyl)-8-sulfanylquinoline-4-carboxamide	IC50	2200 nM	US-10005735: Inhibitors of RPN11
N-(1,3-oxazol-2-yl)-8-sulfanylquinoline-3-carboxamide	IC50	2600 nM	US-10005735: Inhibitors of RPN11
methyl 2-[(8-sulfanylquinoline-3-carbonyl)amino]acetate	IC50	2800 nM	US-10005735: Inhibitors of RPN11
N-(pyridin-3-ylmethyl)-8-sulfanylquinoline-3-carboxamide	IC50	3100 nM	US-10005735: Inhibitors of RPN11
N-(pyridin-2-ylmethyl)-8-sulfanylquinoline-3-carboxamide	IC50	3900 nM	US-10005735: Inhibitors of RPN11
N-(oxolan-2-ylmethyl)-8-sulfanylquinoline-3-carboxamide	IC50	4600 nM	US-10005735: Inhibitors of RPN11
N-(2-morpholin-4-ylethyl)-8-sulfanylquinoline-3-carboxamide	IC50	6400 nM	US-10005735: Inhibitors of RPN11
N-[2-(4-phenyl-1,3-thiazol-2-yl)ethyl]-8-sulfanylquinoline-3-carboxamide	IC50	11100 nM	US-10005735: Inhibitors of RPN11

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression, affects expression	6
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	3
Cyclosporine	increases expression	3
bisphenol A	increases methylation, decreases expression	2
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	2
(+)-JQ1 compound	decreases expression	2
Acetaminophen	affects expression, decreases expression	2
Air Pollutants	increases expression, decreases expression, increases abundance	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Silicon Dioxide	increases expression, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Aflatoxin B1	increases expression, increases methylation	2
sotorasib	affects cotreatment, decreases expression	1
aminomethylphosphonic acid (AMPA)	decreases expression	1
triphenyl phosphate	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
sulforaphane	increases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects cotreatment	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	increases reaction, affects binding	1
2-palmitoylglycerol	increases expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4606003	Binding	Inhibition of human GST-tagged AMSH-LP CD (264 to 436 residues) expressed in Escherichia coli assessed as cleavage of Ubiquitin-Rhodamine110-glycine to Ubiquitin and Rhodamine110-glycine using Ubiquitin-Rhodamine110-glycine as substrate by	Discovery of Potent, Selective, and Orally Bioavailable Inhibitors of USP7 with In Vivo Antitumor Activity. — 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_TQ55	HAP1 STAMBPL1 (-) 1	Cancer cell line	Male
CVCL_TQ56	HAP1 STAMBPL1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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