RPP30

Summary

RPP30 (ribonuclease P/MRP subunit p30, HGNC:17688) is a protein-coding gene on chromosome 10q23.31, encoding Ribonuclease P protein subunit p30 (P78346). Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5’-ends. It is a common-essential gene (DepMap: required in 92.5% of cancer cell lines).

Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5’-leader removal. Part of multimeric ribonuclease P complex and ribonuclease MRP complex.

Source: NCBI Gene 10556 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 56 total — 1 pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 92.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_006413

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17688
Approved symbol	RPP30
Name	ribonuclease P/MRP subunit p30
Location	10q23.31
Locus type	gene with protein product
Status	Approved
Aliases	TSG15
Ensembl gene	ENSG00000148688
Ensembl biotype	protein_coding
OMIM	606115
Entrez	10556

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 9 protein_coding, 5 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000277882, ENST00000371703, ENST00000413330, ENST00000414836, ENST00000466462, ENST00000470933, ENST00000479678, ENST00000480406, ENST00000487998, ENST00000489806, ENST00000864175, ENST00000864176, ENST00000913125, ENST00000913126, ENST00000913127

RefSeq mRNA: 2 — MANE Select: NM_006413 NM_001104546, NM_006413

CCDS: CCDS44458, CCDS7411

Canonical transcript exons

ENST00000371703 — 11 exons

Exon	Start	End
ENSE00001455897	90900570	90902191
ENSE00001871316	90871974	90872068
ENSE00003536299	90875558	90875614
ENSE00003543274	90874869	90874924
ENSE00003553121	90885812	90885901
ENSE00003614904	90895454	90895483
ENSE00003626639	90876024	90876098
ENSE00003629031	90895880	90895917
ENSE00003687572	90894775	90894891
ENSE00003688451	90879063	90879134
ENSE00003790664	90896313	90896392

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 94.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.8394 / max 572.5707, expressed in 1816 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106185	46.3691	1816
106184	1.4668	977
106186	0.0036	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.63	gold quality
ventricular zone	UBERON:0003053	94.56	gold quality
ganglionic eminence	UBERON:0004023	94.22	gold quality
embryo	UBERON:0000922	93.16	gold quality
right testis	UBERON:0004534	92.86	gold quality
left testis	UBERON:0004533	92.72	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.31	gold quality
testis	UBERON:0000473	92.24	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.19	gold quality
calcaneal tendon	UBERON:0003701	92.13	gold quality
islet of Langerhans	UBERON:0000006	91.81	gold quality
mucosa of stomach	UBERON:0001199	91.77	gold quality
gastrocnemius	UBERON:0001388	91.72	gold quality
muscle of leg	UBERON:0001383	91.71	gold quality
nerve	UBERON:0001021	91.54	gold quality
tibial nerve	UBERON:0001323	91.54	gold quality
diaphragm	UBERON:0001103	91.39	silver quality
rectum	UBERON:0001052	91.38	gold quality
tibial artery	UBERON:0007610	91.37	gold quality
popliteal artery	UBERON:0002250	91.36	gold quality
descending thoracic aorta	UBERON:0002345	91.23	gold quality
monocyte	CL:0000576	91.12	gold quality
left coronary artery	UBERON:0001626	90.97	gold quality
aorta	UBERON:0000947	90.94	gold quality
skin of leg	UBERON:0001511	90.94	gold quality
skin of abdomen	UBERON:0001416	90.92	gold quality
mononuclear cell	CL:0000842	90.89	gold quality
cortical plate	UBERON:0005343	90.89	gold quality
right atrium auricular region	UBERON:0006631	90.88	gold quality
leukocyte	CL:0000738	90.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-10137	yes	1279.29
E-ANND-3	yes	6.51

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF

miRNA regulators (miRDB)

71 targeting RPP30, 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-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-33A-3P	99.70	70.27	3362

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 92.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 3)

• archaeal homologs of the human RNase P proteins Pop5 and Rpp30 (PMID:25704799)
• We also find that a subset of m(6)A-containing circular RNAs associates with YTHDF2 in an HRSP12-dependent manner and is selectively downregulated by RNase P/MRP. (PMID:30930054)
• RPP30, a transcriptional regulator, is a potential pathogenic factor in glioblastoma. (PMID:32702667)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpp30	ENSDARG00000027428
mus_musculus	Rpp30	ENSMUSG00000024800
rattus_norvegicus	Rpp30	ENSRNOG00000018718
drosophila_melanogaster	Rpp30	FBGN0283652
caenorhabditis_elegans		WBGENE00019264

Protein

Protein identifiers

Ribonuclease P protein subunit p30 — P78346 (reviewed: P78346)

Alternative names: RNase P subunit 2

All UniProt accessions (3): P78346, Q5VU10, Q5VU11

UniProt curated annotations — full annotation on UniProt →

Function. Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5’-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences.

Subunit / interactions. Component of nuclear RNase P and RNase MRP ribonucleoproteins. RNase P consists of a catalytic RNA moiety and about 10 protein subunits; POP1, POP4, POP5, POP7, RPP14, RPP21, RPP25, RPP30, RPP38 and RPP40. Within the RNase P complex, POP1, POP7 and RPP25 form the ‘finger’ subcomplex, POP5, RPP14, RPP40 and homodimeric RPP30 form the ‘palm’ subcomplex, and RPP21, POP4 and RPP38 form the ‘wrist’ subcomplex. All subunits of the RNase P complex interact with the catalytic RNA. Several subunits of RNase P are also part of the RNase MRP complex. RNase MRP consists of a catalytic RNA moiety and about 8 protein subunits; POP1, POP7, RPP25, RPP30, RPP38, RPP40 and possibly also POP4 and POP5.

Subcellular location. Nucleus. Nucleolus.

Miscellaneous. Autoantibodies against RPP30 are found in sera from scleroderma patients.

Similarity. Belongs to the eukaryotic/archaeal RNase P protein component 3 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P78346-1	1	yes
P78346-2	2

RefSeq proteins (2): NP_001098016, NP_006404* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002738	RNase_P_p30	Family
IPR016195	Pol/histidinol_Pase-like	Homologous_superfamily

Pfam: PF01876

Enzyme classification (BRENDA):

• EC 3.1.26.5 — ribonuclease P (BRENDA: 188 organisms, 407 substrates, 80 inhibitors, 54 Km, 43 kcat entries)

Substrate kinetics (BRENDA)

24 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
HUMAN PRE-TRNATYR	0.0001–0.0005	5
PRE-TRNATYR	—	5
PRE-TRNAASP	—	4
PTRNATYR	0.0002–0.0305	4
TRNA PRECURSOR	—	4
PRE-TRNA-TYR	0.0001	2
PRE-TRNATHR(AGT)	0.0035–0.05	2
RNASE P RIBOSWITCH A	0.0064–0.0081	2
TRNAPHE (G+1) PRECURSOR	—	2
TRNATYR	—	2
PMINI3PBUG	0.0013	1
PRE-TRNA	—	1
PRE-TRNA SUPS1 TRNASER	0.0002	1
PRE-TRNA-ASP	0.0003	1
PRE-TRNA-CYS	0.0006	1

UniProt features (10 total): sequence conflict 3, modified residue 2, initiator methionine 1, chain 1, region of interest 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9UH7	ELECTRON MICROSCOPY	2.84
9UH9	ELECTRON MICROSCOPY	3.47
6AHU	ELECTRON MICROSCOPY	3.66
6AHR	ELECTRON MICROSCOPY	3.92
9UHA	ELECTRON MICROSCOPY	3.93

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P78346-F1	84.97	0.63

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 (2): 2, 251

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-6784531	tRNA processing in the nucleus
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72306	tRNA processing
R-HSA-72312	rRNA processing
R-HSA-8868773	rRNA processing in the nucleus and cytosol
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 157 (showing top): GOBP_RIBOSOME_BIOGENESIS, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, GOBP_TRNA_METABOLIC_PROCESS, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, WEI_MYCN_TARGETS_WITH_E_BOX, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, GCM_PPP1CC, GOMF_RNA_ENDONUCLEASE_ACTIVITY, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, BERENJENO_TRANSFORMED_BY_RHOA_UP

GO Biological Process (3): tRNA 5’-leader removal (GO:0001682), rRNA processing (GO:0006364), tRNA processing (GO:0008033)

GO Molecular Function (4): RNA binding (GO:0003723), ribonuclease P activity (GO:0004526), ribonuclease P RNA binding (GO:0033204), protein binding (GO:0005515)

GO Cellular Component (6): ribonuclease MRP complex (GO:0000172), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolar ribonuclease P complex (GO:0005655), multimeric ribonuclease P complex (GO:0030681), nucleolus (GO:0005730)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Metabolism of RNA	2
tRNA processing	1
rRNA processing in the nucleus and cytosol	1
rRNA processing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
nuclear lumen	2
tRNA 5’-end processing	1
rRNA metabolic process	1
ribosome biogenesis	1
tRNA metabolic process	1
nucleic acid binding	1
tRNA-specific ribonuclease activity	1
RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism	1
RNA binding	1
binding	1
sno(s)RNA-containing ribonucleoprotein complex	1
endoribonuclease complex	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
nucleolus	1
multimeric ribonuclease P complex	1
nuclear protein-containing complex	1
ribonuclease P complex	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1808 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPP30	POP4	O95707	999
RPP30	RPP25	Q9BUL9	998
RPP30	POP5	Q969H6	998
RPP30	RPP40	O75818	998
RPP30	RPP38	P78345	998
RPP30	POP7	O75817	582
RPP30	POP1	Q99575	578
RPP30	NOP58	Q9Y2X3	532
RPP30	RPP21	Q9H633	464
RPP30	CENPV	Q7Z7K6	448
RPP30	RPP25L	Q8N5L8	418
RPP30	ELAC2	Q9BQ52	418
RPP30	XKRX	Q6PP77	387
RPP30	CD4	P01730	367
RPP30	RBMX2	Q9Y388	366
RPP30	SMN1	Q16637	366

IntAct

104 interactions, top by confidence:

A	B	Type	Score
RPP14	RPP30	psi-mi:“MI:0915”(physical association)	0.890
RPP25	POP7	psi-mi:“MI:0914”(association)	0.810
HMG20A	RPP30	psi-mi:“MI:0915”(physical association)	0.780
RPP30	HMG20A	psi-mi:“MI:0915”(physical association)	0.780
RPP30	POP5	psi-mi:“MI:0915”(physical association)	0.740
RPP30	POP7	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RPP14	RPP40	psi-mi:“MI:0914”(association)	0.670
C18orf21	POP7	psi-mi:“MI:0914”(association)	0.640
POP4	POP7	psi-mi:“MI:0914”(association)	0.640
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
POP4	NME2P1	psi-mi:“MI:0914”(association)	0.530
RPP21	POP7	psi-mi:“MI:0914”(association)	0.530
POP7	RPP40	psi-mi:“MI:0914”(association)	0.530
RPP25L	RPP40	psi-mi:“MI:0914”(association)	0.530
C18orf21	RPP40	psi-mi:“MI:0914”(association)	0.530
RPP40	NPM1	psi-mi:“MI:0914”(association)	0.530
RPP30	RPP38	psi-mi:“MI:0914”(association)	0.530
MAGEA4	MAGEB16	psi-mi:“MI:0914”(association)	0.530

BioGRID (175): RPP30 (Affinity Capture-MS), RPP30 (Two-hybrid), RPP30 (Affinity Capture-MS), RPP30 (Affinity Capture-MS), RPP30 (Affinity Capture-MS), RPP30 (Co-fractionation), RPP30 (Co-fractionation), RPP30 (Affinity Capture-MS), RPP30 (Affinity Capture-MS), RPP30 (Affinity Capture-MS), RPP25 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), RPP30 (Affinity Capture-MS), RPP30 (Affinity Capture-MS), RPP40 (Affinity Capture-MS)

ESM2 similar proteins: A3QVV1, A8MT69, B0X2G0, B3M123, B3MJ61, B3P239, B4GDU3, B4I3S1, B4JGX4, B4KBI4, B4LZ60, B4NJR8, B4PUG5, B4QVL3, C6Y4D0, G2TRL2, O60076, O74807, O74896, O75843, O88796, P06353, P0DJH7, P36611, P78346, Q295I4, Q2KNB4, Q2KNB7, Q2KNB9, Q2NKU0, Q3E829, Q3E835, Q42525, Q54CN8, Q5E9L5, Q5RBU1, Q6NZB1, Q6P9U3, Q7QD36, Q7ZW33

Diamond homologs: F4JXF1, O88796, P78346, P87120, Q3SZ21, Q3ZE13, P38786

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
RPP30	“form complex”	“Ribonuclease MRP complex”	binding
RPP30	“form complex”	“Nucleolar ribonuclease P complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 85 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
tRNA processing	6	38.2×	8e-07
tRNA processing in the nucleus	8	28.1×	5e-08
rRNA processing in the nucleus and cytosol	9	25.9×	2e-08
rRNA processing	9	23.5×	3e-08
Major pathway of rRNA processing in the nucleolus and cytosol	10	11.0×	1e-06
Metabolism of RNA	13	9.7×	5e-08
Cellular responses to stress	8	5.3×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
ribosomal small subunit biogenesis	6	18.7×	1e-04
rRNA processing	9	17.5×	7e-07
cytoplasmic translation	6	15.2×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	32
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	Pathogenic

SpliceAI

1742 predictions. Top by Δscore:

Variant	Effect	Δscore
10:90874867:A:AG	acceptor_gain	1.0000
10:90874867:AGTT:A	acceptor_gain	1.0000
10:90874868:G:GG	acceptor_gain	1.0000
10:90874868:GT:G	acceptor_gain	1.0000
10:90874868:GTT:G	acceptor_gain	1.0000
10:90874868:GTTG:G	acceptor_gain	1.0000
10:90874920:AACAG:A	donor_loss	1.0000
10:90874921:ACAG:A	donor_loss	1.0000
10:90874922:CAG:C	donor_loss	1.0000
10:90874923:AGGTA:A	donor_loss	1.0000
10:90874924:G:GC	donor_loss	1.0000
10:90874925:GT:G	donor_loss	1.0000
10:90874926:T:A	donor_loss	1.0000
10:90875554:GTAGG:G	acceptor_loss	1.0000
10:90875555:TAGG:T	acceptor_loss	1.0000
10:90875556:A:G	acceptor_loss	1.0000
10:90875557:G:T	acceptor_loss	1.0000
10:90875614:GGTA:G	donor_loss	1.0000
10:90879061:A:AG	acceptor_gain	1.0000
10:90879062:G:GG	acceptor_gain	1.0000
10:90879062:GA:G	acceptor_gain	1.0000
10:90879062:GAGA:G	acceptor_gain	1.0000
10:90879135:G:GG	donor_gain	1.0000
10:90879146:A:G	donor_gain	1.0000
10:90885808:ACAG:A	acceptor_loss	1.0000
10:90885809:CAG:C	acceptor_loss	1.0000
10:90885810:A:AG	acceptor_gain	1.0000
10:90885810:A:C	acceptor_loss	1.0000
10:90885810:AGATT:A	acceptor_gain	1.0000
10:90885811:G:GG	acceptor_gain	1.0000

AlphaMissense

1724 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:90874884:T:A	V33D	0.999
10:90876055:G:C	R76T	0.999
10:90879102:G:C	A104P	0.999
10:90879106:T:A	V105D	0.999
10:90874887:C:A	A34D	0.998
10:90876055:G:T	R76I	0.998
10:90876056:A:C	R76S	0.998
10:90876056:A:T	R76S	0.998
10:90894776:C:A	A145E	0.998
10:90894785:G:C	R148P	0.998
10:90894840:A:C	R166S	0.998
10:90894840:A:T	R166S	0.998
10:90895469:A:C	S189R	0.998
10:90895471:T:A	S189R	0.998
10:90895471:T:G	S189R	0.998
10:90895893:G:C	R198T	0.998
10:90895894:A:C	R198S	0.998
10:90895894:A:T	R198S	0.998
10:90896353:G:C	A220P	0.998
10:90900577:A:C	R235S	0.998
10:90900577:A:T	R235S	0.998
10:90874871:G:C	G29R	0.997
10:90874872:G:T	G29V	0.997
10:90879103:C:A	A104E	0.997
10:90879112:C:A	P107Q	0.997
10:90885816:C:A	A116D	0.997
10:90885818:T:C	C117R	0.997
10:90895893:G:T	R198I	0.997
10:90896314:G:C	G207R	0.997
10:90896315:G:A	G207D	0.997

dbSNP variants (sampled 300 via entrez): RS1000009013 (10:90906572 T>G), RS1000079898 (10:90904952 A>C,G), RS1000080805 (10:90883096 C>T), RS1000200213 (10:90886788 A>G), RS1000237894 (10:90870469 A>C,G), RS1000305816 (10:90899857 T>C,G), RS1000341638 (10:90906932 A>G), RS1000347143 (10:90892924 T>C), RS1000533473 (10:90888680 G>A), RS1000628396 (10:90900840 G>A), RS1000665634 (10:90877206 A>G), RS1000680090 (10:90894326 C>G,T), RS1000720265 (10:90894216 T>C), RS1000767823 (10:90893186 G>A), RS1000876677 (10:90887925 T>C)

Disease associations

OMIM: gene MIM:606115 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001511_8	Economic and political preferences (time)	5.000000e-06
GCST009391_1299	Metabolite levels	5.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004827	economic and social preference
EFO:0010549	xanthosine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066182 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

PharmGKB clinical annotations

3 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs7905446	Efficacy	3	antidepressants	Depression
rs7905446	Efficacy	3	paroxetine	Bipolar Disorder
rs7905446	Efficacy	3	escitalopram	Depression

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs7905446	HTR7, RPP30	3	4.75	4	antidepressants;paroxetine;escitalopram;Selective serotonin reuptake inhibitors

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.65	IC50	2230	nM	MOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 6 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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179033: Inhibition of RPP30 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	2.2300	uM

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
deoxynivalenol	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
ochratoxin A	increases expression	1
K 7174	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Carbamazepine	affects expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Ribonucleotides	affects binding	1
Tretinoin	decreases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697763	Binding	Inhibition of RPP30 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

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