PELO

Summary

PELO (pelota mRNA surveillance and ribosome rescue factor, HGNC:8829) is a protein-coding gene on chromosome 5q11.2, encoding Protein pelota homolog (Q9BRX2). Component of the Pelota-HBS1L complex, a complex that recognizes stalled ribosomes and triggers the No-Go Decay (NGD) pathway. It is a selective cancer dependency (DepMap: 86.3% of cell lines).

This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division.

Source: NCBI Gene 53918 — RefSeq curated summary.

At a glance

• GWAS associations: 37
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 86.3% of screened cell lines
• MANE Select transcript: NM_015946

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8829
Approved symbol	PELO
Name	pelota mRNA surveillance and ribosome rescue factor
Location	5q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000152684
Ensembl biotype	protein_coding
OMIM	605757
Entrez	53918

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000274311, ENST00000506949, ENST00000901259, ENST00000901260

RefSeq mRNA: 1 — MANE Select: NM_015946 NM_015946

CCDS: CCDS3956

Canonical transcript exons

ENST00000274311 — 3 exons

Exon	Start	End
ENSE00000971472	52799885	52801120
ENSE00000971473	52801409	52804044
ENSE00003849096	52787916	52788414

Expression profiles

Bgee: expression breadth ubiquitous, 272 present calls, max score 92.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.0534 / max 161.6393, expressed in 1810 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56399	13.5160	1762
56387	7.8091	1289
56400	7.7126	1767
56401	1.7952	1126
56402	0.9252	657
56388	0.4182	195
56403	0.3226	151
56389	0.2331	126
56386	0.2140	122
56404	0.1304	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vena cava	UBERON:0004087	92.55	gold quality
decidua	UBERON:0002450	91.79	gold quality
saphenous vein	UBERON:0007318	91.67	gold quality
adrenal tissue	UBERON:0018303	91.06	gold quality
cartilage tissue	UBERON:0002418	90.91	gold quality
tendon of biceps brachii	UBERON:0008188	90.25	gold quality
left adrenal gland	UBERON:0001234	90.11	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.97	gold quality
right adrenal gland cortex	UBERON:0035827	89.96	gold quality
lower esophagus	UBERON:0013473	89.92	gold quality
stromal cell of endometrium	CL:0002255	89.91	gold quality
right adrenal gland	UBERON:0001233	89.84	gold quality
adrenal gland	UBERON:0002369	89.79	gold quality
adrenal cortex	UBERON:0001235	89.66	gold quality
left adrenal gland cortex	UBERON:0035825	89.54	gold quality
oocyte	CL:0000023	89.52	gold quality
popliteal artery	UBERON:0002250	88.57	gold quality
tibial artery	UBERON:0007610	88.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.26	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.24	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.06	gold quality
aorta	UBERON:0000947	87.86	gold quality
left coronary artery	UBERON:0001626	87.68	gold quality
right coronary artery	UBERON:0001625	87.42	gold quality
islet of Langerhans	UBERON:0000006	87.37	gold quality
coronary artery	UBERON:0001621	87.28	gold quality
thoracic aorta	UBERON:0001515	86.94	gold quality
ascending aorta	UBERON:0001496	86.93	gold quality
descending thoracic aorta	UBERON:0002345	86.66	gold quality
spleen	UBERON:0002106	86.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.52
E-GEOD-84465	yes	5.88

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

54 targeting PELO, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-216A-5P	99.50	68.02	1288
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-4251	99.40	69.19	3363

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 86.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• thrombopoietin-induced in vitro differentiation of primary human cord blood mononuclear cells into megakaryocytes, we observed rapid, progressive CpG methylation of ITGA1, but not PELO or ITGA2. (PMID:17669516)
• PELO is subcellularly localized at the actin cytoskeleton, interacts with HAX1, EIF3G and SRPX proteins and that this interaction occurs at the cytoskeleton; this interaction may facilitate PELO to detect and degrade aberrant mRNAs. (PMID:20406461)
• Pelota/Hbs1 induced dissociation of elongation complexes from ribosomes and release of peptidyl-tRNA, but only in the presence of ABCE1. (PMID:21448132)
• PELO is a novel regulator of HER-signalling. (PMID:23435426)
• The non-stop decay mechanism exists in mammalian cells and involves Hbs1, Dom34, and the exosome-Ski complex. (PMID:23667253)
• Human Pelota compensated for Dom34 functions in quality control of nonstop mRNA in yeast. (PMID:27543824)
• Induction of ribosome rescue factors PELO and HBS1L is required to support protein synthesis when ABCE1 levels fall in platelets, including for hemoglobin production during blood cell development. (PMID:27681415)
• The data suggest that the decay of platelet mRNAs is slowed by the natural loss of the mRNA surveillance and ribosome rescue factor Pelota. (PMID:28213379)
• Ribosome-rescuer PELO catalyzes the oligomeric assembly of NOD-like receptor family proteins via activating their ATPase enzymatic activity. (PMID:36948192)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pelo	ENSDARG00000055477
mus_musculus	Pelo	ENSMUSG00000042275
rattus_norvegicus	Pelo	ENSRNOG00000061128
drosophila_melanogaster	pelo	FBGN0011207
caenorhabditis_elegans		WBGENE00011280

Protein

Protein identifiers

Protein pelota homolog — Q9BRX2 (reviewed: Q9BRX2)

Alternative names: Protein Dom34 homolog

All UniProt accessions (1): Q9BRX2

UniProt curated annotations — full annotation on UniProt →

Function. Component of the Pelota-HBS1L complex, a complex that recognizes stalled ribosomes and triggers the No-Go Decay (NGD) pathway. In the Pelota-HBS1L complex, PELO recognizes ribosomes stalled at the 3’ end of an mRNA and engages stalled ribosomes by destabilizing mRNA in the mRNA channel. Following mRNA extraction from stalled ribosomes by the SKI complex, the Pelota-HBS1L complex promotes recruitment of ABCE1, which drives the disassembly of stalled ribosomes, followed by degradation of damaged mRNAs as part of the NGD pathway. As part of the PINK1-regulated signaling, upon mitochondrial damage is recruited to the ribosome/mRNA-ribonucleoprotein complex associated to mitochondrial outer membrane thereby enabling the recruitment of autophagy receptors and induction of mitophagy.

Subunit / interactions. Component of the Pelota-HBS1L complex, also named Dom34-Hbs1 complex, composed of PELO and HBS1L. Interacts with PINK1. Interacts with ABCE1. Interacts with CNOT4. Interacts with GTPBP2.

Subcellular location. Cytoplasm.

Tissue specificity. Ubiquitously expressed.

Similarity. Belongs to the eukaryotic release factor 1 family. Pelota subfamily.

RefSeq proteins (1): NP_057030* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004405	TF_pelota	Family
IPR005140	eRF1_Pelota-like_N	Domain
IPR005141	eRF1_2	Domain
IPR005142	eRF1_3	Domain
IPR029064	Ribosomal_eL30-like_sf	Homologous_superfamily
IPR038069	Pelota/DOM34_N	Homologous_superfamily
IPR042226	eFR1_2_sf	Homologous_superfamily
IPR058547	Pelota_N	Domain

Pfam: PF03464, PF03465, PF26356

UniProt features (26 total): helix 6, sequence conflict 5, strand 5, modified residue 4, mutagenesis site 2, chain 1, turn 1, cross-link 1, sequence variant 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
5EO3	X-RAY DIFFRACTION	2.6
5LZZ	ELECTRON MICROSCOPY	3.47
5LZW	ELECTRON MICROSCOPY	3.53
5LZX	ELECTRON MICROSCOPY	3.67
5LZY	ELECTRON MICROSCOPY	3.99
1X52	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BRX2-F1	88.62	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 (5): 374, 380, 381, 382, 162

Mutagenesis-validated functional residues (2):

Position	Phenotype
2	abolished ability to rescue stalled ribosomes.
45	abolished ability to rescue stalled ribosomes.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9954714	PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA

MSigDB gene sets: 202 (showing top): GOBP_CHROMOSOME_ORGANIZATION, RRAGTTGT_UNKNOWN, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_MESENCHYMAL_TO_EPITHELIAL_TRANSITION, GOBP_GROWTH, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_TRANSLATIONAL_INITIATION, FOXO4_01, GOBP_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_TRANSLATIONAL_INITIATION, GOBP_INNER_CELL_MASS_CELL_PROLIFERATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_POSITIVE_REGULATION_OF_BMP_SIGNALING_PATHWAY

GO Biological Process (14): inner cell mass cell proliferation (GO:0001833), regulation of translation (GO:0006417), endoderm development (GO:0007492), stem cell population maintenance (GO:0019827), positive regulation of BMP signaling pathway (GO:0030513), ribosome disassembly (GO:0032790), chromosome organization (GO:0051276), cell division (GO:0051301), mesenchymal to epithelial transition (GO:0060231), nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481), nonfunctional rRNA decay (GO:0070651), nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966), RNA surveillance (GO:0071025), rescue of stalled cytosolic ribosome (GO:0072344)

GO Molecular Function (5): ribosome binding (GO:0043022), metal ion binding (GO:0046872), stalled ribosome sensor activity (GO:0170011), protein binding (GO:0005515), nucleoside-triphosphatase regulator activity (GO:0060589)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosolic ribosome (GO:0022626), Dom34-Hbs1 complex (GO:1990533)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Ribosome-associated quality control	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear-transcribed mRNA catabolic process	2
blastocyst growth	1
cell population proliferation	1
translation	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
tissue development	1
multicellular organismal process	1
maintenance of cell number	1
BMP signaling pathway	1
regulation of BMP signaling pathway	1
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
organelle disassembly	1
organelle organization	1
cellular process	1
epithelial cell differentiation	1
rRNA catabolic process	1
RNA catabolic process	1
cytoplasmic translational elongation	1
ribosome disassembly	1
ribonucleoprotein complex binding	1
cation binding	1
ribosome binding	1
molecular sensor activity	1
binding	1
ribonucleoside triphosphate phosphatase activity	1
enzyme regulator activity	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytosol	1
ribosome	1
protein-containing complex	1

Protein interactions and networks

STRING

1292 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PELO	HBS1L	Q9Y450	939
PELO	ABCE1	P61221	719
PELO	GTPBP2	Q9BX10	718
PELO	ZNF598	Q86UK7	692
PELO	NEMF	O60524	667
PELO	LTN1	O94822	643
PELO	MRRF	Q96E11	616
PELO	CNOT4	O95628	540
PELO	ASCC2	Q9H1I8	539
PELO	ETF1	P46055	535
PELO	ASCC3	Q8N3C0	533
PELO	XRN1	Q8IZH2	508
PELO	RACK1	P25388	496
PELO	TMEM145	Q8NBT3	485
PELO	GSPT2	Q8IYD1	466

IntAct

176 interactions, top by confidence:

A	B	Type	Score
DNAJB11	HSPA5	psi-mi:“MI:0914”(association)	0.830
PELO	HBS1L	psi-mi:“MI:0915”(physical association)	0.780
FLNA	PELO	psi-mi:“MI:0915”(physical association)	0.720
LMO3	PELO	psi-mi:“MI:0915”(physical association)	0.720
PELO	FLNA	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PELO	HSPB1	psi-mi:“MI:0915”(physical association)	0.670
HSPB1	PELO	psi-mi:“MI:0915”(physical association)	0.670
PELO	HAX1	psi-mi:“MI:0915”(physical association)	0.660
HAX1	PELO	psi-mi:“MI:0403”(colocalization)	0.660
EIF3G	PELO	psi-mi:“MI:0915”(physical association)	0.650
PELO	SRPX	psi-mi:“MI:0915”(physical association)	0.650

BioGRID (185): PELO (Two-hybrid), PELO (Affinity Capture-MS), PELO (Two-hybrid), PELO (Co-fractionation), PELO (Co-fractionation), PELO (Co-fractionation), PELO (Two-hybrid), PELO (Reconstituted Complex), PELO (Proximity Label-MS), PELO (Proximity Label-MS), PELO (Affinity Capture-MS), PELO (Affinity Capture-MS), PELO (Affinity Capture-MS), PELO (Affinity Capture-MS), RUVBL1 (Affinity Capture-MS)

ESM2 similar proteins: A1D5Z0, A5D8M6, A5DG70, A5DWY7, A8XT37, B0XZZ2, B3RXR7, B6H2S6, B6QW35, B9WBR8, C4JWU3, C4Y8M4, C5DN84, C5DWG7, C5M6K8, C5PCH4, O14179, P20434, P34617, P42942, P48612, P50444, P70122, Q07953, Q23202, Q23670, Q3SWZ6, Q4WYV0, Q58DV0, Q59P53, Q5RAZ2, Q5RCE3, Q5RK30, Q5U567, Q5XIP1, Q5ZIY4, Q5ZK01, Q6CJ62, Q6CUH2, Q6DIT8

Diamond homologs: A0B6U3, A0RWD1, A9A148, Q58DV0, Q5RCE3, Q5XIP1, Q80X73, Q8TZ98, Q9BRX2, A4FX39, A5ULL8, A6UPD8, A6VG76, A9AAH5, B0R748, B6YU52, B9LRF2, C5ZZZ5, D2K759, D2K760, D5LHJ0, O16520, O26964, O29048, O59264, O59948, P12385, P35614, P35615, P58227, P61731, P62495, P62496, P62497, P62498, P79063, Q0VCX5, Q12V98, Q18FC0, Q2NEL3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 107 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
protein folding	7	7.7×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

422 predictions. Top by Δscore:

Variant	Effect	Δscore
5:52801403:TTCTA:T	acceptor_loss	1.0000
5:52801405:CTA:C	acceptor_loss	1.0000
5:52801406:TAGGT:T	acceptor_loss	1.0000
5:52801407:A:AC	acceptor_loss	1.0000
5:52801408:GGTAC:G	acceptor_gain	1.0000
5:52801646:G:GT	donor_gain	1.0000
5:52801406:TA:T	acceptor_loss	0.9900
5:52801407:A:AG	acceptor_gain	0.9900
5:52801407:A:C	acceptor_loss	0.9900
5:52801408:G:GG	acceptor_gain	0.9900
5:52801408:G:GT	acceptor_loss	0.9900
5:52801408:GGT:G	acceptor_gain	0.9900
5:52801408:GGTA:G	acceptor_gain	0.9900
5:52788412:CTGG:C	donor_loss	0.9800
5:52788415:G:GG	donor_gain	0.9800
5:52788415:GT:G	donor_loss	0.9800
5:52788416:T:A	donor_loss	0.9800
5:52788416:TGAG:T	donor_loss	0.9800
5:52801116:TTCAG:T	donor_loss	0.9800
5:52801117:TCAG:T	donor_loss	0.9800
5:52801118:CAGGT:C	donor_loss	0.9800
5:52801119:AGG:A	donor_loss	0.9800
5:52801120:GGTA:G	donor_loss	0.9800
5:52801121:G:T	donor_loss	0.9800
5:52801122:T:G	donor_loss	0.9800
5:52801407:AG:A	acceptor_gain	0.9800
5:52801408:GG:G	acceptor_gain	0.9800
5:52788417:GA:G	donor_loss	0.9700
5:52788195:G:GT	donor_gain	0.9600
5:52788196:A:T	donor_gain	0.9600

AlphaMissense

2553 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:52800527:C:A	R45S	0.999
5:52800647:G:T	G85W	0.999
5:52800648:G:A	G85E	0.999
5:52800675:T:A	V94D	0.999
5:52800692:C:G	H100D	0.999
5:52800743:T:A	W117R	0.999
5:52800743:T:C	W117R	0.999
5:52800745:G:C	W117C	0.999
5:52800745:G:T	W117C	0.999
5:52800810:C:A	A139D	0.999
5:52800834:C:A	A147D	0.999
5:52801019:A:C	S209R	0.999
5:52801021:C:A	S209R	0.999
5:52801021:C:G	S209R	0.999
5:52801770:C:A	A363D	0.999
5:52800473:T:A	W27R	0.998
5:52800473:T:C	W27R	0.998
5:52800475:G:C	W27C	0.998
5:52800475:G:T	W27C	0.998
5:52800528:G:C	R45P	0.998
5:52800642:T:A	V83D	0.998
5:52800647:G:A	G85R	0.998
5:52800647:G:C	G85R	0.998
5:52800833:G:C	A147P	0.998
5:52801020:G:T	S209I	0.998
5:52801028:T:C	F212L	0.998
5:52801030:T:A	F212L	0.998
5:52801030:T:G	F212L	0.998
5:52801557:C:A	A292D	0.998
5:52801614:T:C	L311S	0.998

dbSNP variants (sampled 300 via entrez): RS1000036176 (5:52803938 T>C), RS1000394040 (5:52793281 A>G), RS1000431512 (5:52804107 G>T), RS1000492782 (5:52799525 T>C), RS1000746425 (5:52793917 T>G), RS1000834783 (5:52799703 G>C), RS1000885635 (5:52799339 C>G,T), RS1001345452 (5:52791806 A>C), RS1001353912 (5:52792295 A>T), RS1001721201 (5:52792807 A>G), RS1001773547 (5:52792476 C>G), RS1001885487 (5:52797462 A>G), RS1002703131 (5:52787348 G>A), RS1002732297 (5:52794676 CA>C,CAA), RS1002941302 (5:52788669 G>A,T)

Disease associations

OMIM: gene MIM:605757 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

37 associations (top):

Study	Trait	p-value
GCST001291_1	Response to platinum-based agents	2.000000e-06
GCST001872_1	Presence of antiphospholipid antibodies	6.000000e-06
GCST002481_13	Acne (severe)	5.000000e-09
GCST004611_121	High light scatter reticulocyte count	6.000000e-37
GCST004611_122	High light scatter reticulocyte count	1.000000e-33
GCST004612_68	High light scatter reticulocyte percentage of red cells	1.000000e-36
GCST004612_69	High light scatter reticulocyte percentage of red cells	2.000000e-34
GCST004619_187	Reticulocyte fraction of red cells	9.000000e-31
GCST004619_89	Reticulocyte fraction of red cells	5.000000e-33
GCST004622_172	Reticulocyte count	2.000000e-30
GCST004622_173	Reticulocyte count	1.000000e-31
GCST004628_71	Immature fraction of reticulocytes	7.000000e-25
GCST004628_72	Immature fraction of reticulocytes	6.000000e-20
GCST005989_12	Serum total protein levels	3.000000e-09
GCST006979_773	Heel bone mineral density	1.000000e-11
GCST007094_52	Diastolic blood pressure	2.000000e-08
GCST007099_213	Systolic blood pressure	9.000000e-07
GCST008362_219	Birth weight	3.000000e-09
GCST009723_77	Vertical cup-disc ratio (adjusted for vertical disc diameter)	4.000000e-06
GCST009724_42	Vertical cup-disc ratio (multi-trait analysis)	2.000000e-09
GCST010204_83	Low density lipoprotein cholesterol levels	1.000000e-20
GCST90002385_273	High light scatter reticulocyte count	1.000000e-265
GCST90002385_274	High light scatter reticulocyte count	3.000000e-122
GCST90002385_275	High light scatter reticulocyte count	2.000000e-116
GCST90002386_21	High light scatter reticulocyte percentage of red cells	2.000000e-266
GCST90002386_22	High light scatter reticulocyte percentage of red cells	1.000000e-122
GCST90002386_23	High light scatter reticulocyte percentage of red cells	6.000000e-119
GCST90002387_107	Immature fraction of reticulocytes	2.000000e-193
GCST90002387_108	Immature fraction of reticulocytes	3.000000e-91
GCST90002387_298	Immature fraction of reticulocytes	2.000000e-78

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count
EFO:0009270	heel bone mineral density
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0004344	birth weight
EFO:0006939	cup-to-disc ratio measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066177 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	4
Benzo(a)pyrene	increases expression	3
Estradiol	affects cotreatment, increases expression	3
Tretinoin	increases expression	3
Cyclosporine	increases expression	3
sodium arsenite	decreases expression, increases expression	2
cobaltous chloride	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
trichostatin A	increases expression	1
benzo(e)pyrene	increases methylation	1
periodate-oxidized adenosine	affects expression	1
nickel sulfate	decreases expression	1
mercuric bromide	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
entinostat	increases expression, affects cotreatment	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	increases expression, affects cotreatment	1
Vorinostat	increases expression	1
Norethindrone Acetate	affects cotreatment, increases expression	1
Adenine	decreases expression	1
Benzene	increases expression	1
Cadmium	increases expression	1
Cisplatin	decreases expression	1
Colchicine	decreases expression	1
Dietary Carbohydrates	decreases 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
CHEMBL5697679	Binding	Inhibition of PELO (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

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TC91	HAP1 PELO (-) 1	Cancer cell line	Male
CVCL_TC92	HAP1 PELO (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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