RPS27L

Summary

RPS27L (ribosomal protein S27 like, HGNC:18476) is a protein-coding gene on chromosome 15q22.2, encoding Ribosomal protein eS27-like (Q71UM5).

This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit.

Source: NCBI Gene 51065 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 7 total
• Druggable target: yes
• MANE Select transcript: NM_015920

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18476
Approved symbol	RPS27L
Name	ribosomal protein S27 like
Location	15q22.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000185088
Ensembl biotype	protein_coding
OMIM	612055
Entrez	51065

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000330964, ENST00000411926, ENST00000439025, ENST00000455271, ENST00000462430, ENST00000482846, ENST00000559763, ENST00000635699, ENST00000879550, ENST00000935562

RefSeq mRNA: 1 — MANE Select: NM_015920 NM_015920

CCDS: CCDS42048

Canonical transcript exons

ENST00000330964 — 4 exons

Exon	Start	End
ENSE00001312982	63148249	63154060
ENSE00001536531	63157400	63157477
ENSE00001697327	63155621	63155731
ENSE00003688697	63156413	63156521

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 332.2366 / max 4580.5657, expressed in 1825 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
150409	330.9936	1825
150411	0.6172	362
150408	0.4215	202
150410	0.2042	71

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
seminal vesicle	UBERON:0000998	99.64	gold quality
choroid plexus epithelium	UBERON:0003911	99.63	gold quality
jejunal mucosa	UBERON:0000399	99.48	gold quality
palpebral conjunctiva	UBERON:0001812	99.41	gold quality
parotid gland	UBERON:0001831	99.41	gold quality
nephron tubule	UBERON:0001231	99.38	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.35	gold quality
right adrenal gland cortex	UBERON:0035827	99.24	gold quality
colonic mucosa	UBERON:0000317	99.23	gold quality
body of pancreas	UBERON:0001150	99.22	gold quality
cauda epididymis	UBERON:0004360	99.20	gold quality
right adrenal gland	UBERON:0001233	99.17	gold quality
renal medulla	UBERON:0000362	99.16	gold quality
adrenal cortex	UBERON:0001235	99.14	gold quality
visceral pleura	UBERON:0002401	99.10	gold quality
caput epididymis	UBERON:0004358	99.10	gold quality
cardia of stomach	UBERON:0001162	99.09	gold quality
pylorus	UBERON:0001166	99.09	gold quality
left adrenal gland	UBERON:0001234	99.09	gold quality
oocyte	CL:0000023	99.08	gold quality
left adrenal gland cortex	UBERON:0035825	99.08	gold quality
calcaneal tendon	UBERON:0003701	99.06	gold quality
superficial temporal artery	UBERON:0001614	99.05	gold quality
duodenum	UBERON:0002114	99.05	gold quality
thoracic aorta	UBERON:0001515	99.03	gold quality
descending thoracic aorta	UBERON:0002345	99.03	gold quality
ascending aorta	UBERON:0001496	99.02	gold quality
corpus epididymis	UBERON:0004359	98.98	gold quality
pleura	UBERON:0000977	98.97	gold quality
mammary duct	UBERON:0001765	98.96	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	44.52
E-HCAD-5	yes	39.11
E-CURD-46	yes	19.29
E-MTAB-8142	yes	13.27
E-MTAB-8495	no	2039.15
E-MTAB-8205	no	1750.56
E-MTAB-9689	no	1510.27
E-MTAB-7381	no	671.29
E-HCAD-6	no	542.31
E-HCAD-56	no	432.91
E-GEOD-93593	no	12.97
E-MTAB-6678	no	7.76
E-MTAB-8410	no	3.46
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

53 targeting RPS27L, 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-7110-3P	100.00	73.18	2486
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
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-1468-3P	99.96	72.74	3797
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1323	99.83	69.89	2471
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-323A-3P	99.79	70.30	1739
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306

Literature-anchored findings (GeneRIF, showing 4)

• Elevated RPS27L may improve the prognoses of certain colorectal cancer patients by enhancing the DNA repair capacity of their colonic cells. (PMID:23826192)
• The study suggests that RPS27L reduction might play a promoting role during breast tumorigenesis by autophagy induction via the beta-TrCP-DEPTOR-mTORC1 axis. (PMID:30425236)
• Neddylation modification of ribosomal protein RPS27L or RPS27 by MDM2 or NEDP1 regulates cancer cell survival. (PMID:32779270)
• Inactivation of ribosomal protein S27-like impairs DNA interstrand cross-link repair by destabilization of FANCD2 and FANCI. (PMID:33051438)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rps27l	ENSDARG00000100513
mus_musculus	Rps27l	ENSMUSG00000036781
rattus_norvegicus	Rps27l	ENSRNOG00000050473

Paralogs (1): RPS27 (ENSG00000177954)

Protein

Protein identifiers

Ribosomal protein eS27-like — Q71UM5 (reviewed: Q71UM5)

Alternative names: 40S ribosomal protein S27-like, Small ribosomal subunit protein eS27-like

All UniProt accessions (4): Q71UM5, C9J1C5, C9JLI6, H0YMV8

UniProt curated annotations — full annotation on UniProt →

Cofactor. Binds 1 zinc ion per subunit.

Similarity. Belongs to the eukaryotic ribosomal protein eS27 family.

RefSeq proteins (1): NP_057004* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000592	Ribosomal_eS27	Family
IPR011332	Ribosomal_zn-bd	Homologous_superfamily
IPR023407	Ribosomal_eS27_Zn-bd_dom_sf	Homologous_superfamily

Pfam: PF01667

UniProt features (5 total): chain 1, zinc finger region 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q71UM5-F1	92.93	0.89

Function

Pathways and Gene Ontology

Reactome pathways

50 pathways

ID	Pathway
R-HSA-156827	L13a-mediated translational silencing of Ceruloplasmin expression
R-HSA-156902	Peptide chain elongation
R-HSA-1799339	SRP-dependent cotranslational protein targeting to membrane
R-HSA-192823	Viral mRNA Translation
R-HSA-2408557	Selenocysteine synthesis
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72649	Translation initiation complex formation
R-HSA-72689	Formation of a pool of free 40S subunits
R-HSA-72695	Formation of the ternary complex, and subsequently, the 43S complex
R-HSA-72702	Ribosomal scanning and start codon recognition
R-HSA-72706	GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72764	Eukaryotic Translation Termination
R-HSA-9010553	Regulation of expression of SLITs and ROBOs
R-HSA-9633012	Response of EIF2AK4 (GCN2) to amino acid deficiency
R-HSA-9735869	SARS-CoV-1 modulates host translation machinery
R-HSA-9754678	SARS-CoV-2 modulates host translation machinery
R-HSA-975956	Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-975957	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-9954714	PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA
R-HSA-9954716	ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA
R-HSA-1266738	Developmental Biology
R-HSA-1430728	Metabolism
R-HSA-156842	Eukaryotic Translation Elongation
R-HSA-1643685	Disease
R-HSA-168255	Influenza Infection
R-HSA-168273	Influenza Viral RNA Transcription and Replication
R-HSA-2262752	Cellular responses to stress
R-HSA-2408522	Selenoamino acid metabolism
R-HSA-376176	Signaling by ROBO receptors
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 273 (showing top): GOBP_RIBOSOME_BIOGENESIS, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, MODULE_151, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_CELL_CYCLE_PHASE_TRANSITION, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_UP, GOBP_RIBOSOME_ASSEMBLY, CHANDRAN_METASTASIS_DN, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GOMF_TRANSLATION_REGULATOR_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE

GO Biological Process (6): ribosomal small subunit assembly (GO:0000028), translation (GO:0006412), DNA damage response, signal transduction by p53 class mediator (GO:0030330), mitotic G1 DNA damage checkpoint signaling (GO:0031571), intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771), positive regulation of translation (GO:0045727)

GO Molecular Function (6): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), zinc ion binding (GO:0008270), translation activator activity (GO:0008494), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), cytosolic small ribosomal subunit (GO:0022627), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Cap-dependent Translation Initiation	4
Translation	2
Nonsense-Mediated Decay (NMD)	2
Ribosome-associated quality control	2
Eukaryotic Translation Initiation	1
Eukaryotic Translation Elongation	1
Influenza Viral RNA Transcription and Replication	1
Selenoamino acid metabolism	1
rRNA processing in the nucleus and cytosol	1
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	1
Signaling by ROBO receptors	1
Cellular response to starvation	1
SARS-CoV-1-host interactions	1
SARS-CoV-2-host interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein-RNA complex assembly	1
ribosome assembly	1
ribosomal small subunit biogenesis	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
signal transduction in response to DNA damage	1
signal transduction by p53 class mediator	1
mitotic G1 phase	1
mitotic DNA damage checkpoint signaling	1
mitotic G1/S transition checkpoint signaling	1
intrinsic apoptotic signaling pathway in response to DNA damage	1
intrinsic apoptotic signaling pathway by p53 class mediator	1
translation	1
regulation of translation	1
positive regulation of gene expression	1
positive regulation of protein metabolic process	1
nucleic acid binding	1
structural molecule activity	1
ribosome	1
transition metal ion binding	1
translation regulator activity	1
positive regulation of translation	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
small ribosomal subunit	1
cytosolic ribosome	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

2651 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPS27L	RPL11	P25121	710
RPS27L	RPL15	P39030	676
RPS27L	RPL21	P46778	674
RPS27L	RPL38	P23411	671
RPS27L	RPL22	P35268	655
RPS27L	RPS14	P06366	637
RPS27L	RPL7	P18124	637
RPS27L	RPL8	P25120	622
RPS27L	RPL22L1	Q6P5R6	617
RPS27L	RPL26	P61254	615
RPS27L	RPL5	P46777	609
RPS27L	RPL9	P32969	605
RPS27L	RPS19	P39019	580
RPS27L	TP53	P04637	575
RPS27L	RPS25	P25111	569

IntAct

115 interactions, top by confidence:

A	B	Type	Score
RPS27L	MDM2	psi-mi:“MI:0407”(direct interaction)	0.620
MDM2	RPS27L	psi-mi:“MI:0915”(physical association)	0.620
RPS27L	MDM2	psi-mi:“MI:0915”(physical association)	0.620
RPS27L	MDM2	psi-mi:“MI:0403”(colocalization)	0.620
PPP2R2B	DDX3X	psi-mi:“MI:0914”(association)	0.460
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
TUBA1A	TUBAL3	psi-mi:“MI:0914”(association)	0.420
RPS27L	RPS7	psi-mi:“MI:0915”(physical association)	0.400
RPS27L	E7	psi-mi:“MI:0915”(physical association)	0.370
ZMYND8	MTA3	psi-mi:“MI:0914”(association)	0.350
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
Ktn1	ESYT2	psi-mi:“MI:0914”(association)	0.350
NPM1	RPSA	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
	VWA8	psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E6	PLOD2	psi-mi:“MI:0914”(association)	0.350
E7	COPE	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
	PGRMC1	psi-mi:“MI:0914”(association)	0.350
	HAX1	psi-mi:“MI:0914”(association)	0.350
BVLF1	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (319): RPS27L (Affinity Capture-RNA), RPS27L (Co-fractionation), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS), RPS27L (Affinity Capture-MS)

ESM2 similar proteins: A0A1D8PTI7, A0A1L8H579, A0A1W2PPG7, A1X8D9, G1TZ76, O64650, O74330, P03131, P06459, P09003, P0C567, P0DOC8, P11332, P17387, P24051, P35997, P36826, P36833, P38711, P40569, P42677, P47903, P47904, P55833, P68834, P68835, P68958, P68959, Q02271, Q13670, Q1X709, Q2KHT7, Q39072, Q3T0B7, Q5RBK1, Q5RGZ1, Q67616, Q67708, Q6DRC3, Q6ZWU9

Diamond homologs: A0A1D8PTI7, A1RRN0, A2BN94, A3MUV2, A4WLR8, B1YAF9, B6YT34, C5A6X9, G1TZ76, O64650, O74330, P24051, P35997, P38654, P38711, P42677, P47903, P47904, P55833, P58078, Q2KHT7, Q3T0B7, Q46C77, Q4J9B1, Q5JE50, Q5RBK1, Q6ZWU9, Q6ZWY3, Q71TY3, Q71UM5, Q7RVN2, Q8L953, Q8T1V4, Q8U474, Q8ZTY4, Q96564, Q973F9, Q97Z80, Q9M2F1, Q9TXP0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPS27L	“form complex”	“40S cytosolic small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 135 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
Ribosomal scanning and start codon recognition	10	18.7×	1e-08
Formation of the ternary complex, and subsequently, the 43S complex	8	16.9×	7e-07
Translation initiation complex formation	9	16.8×	1e-07
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	6	16.0×	5e-05
Eukaryotic Translation Initiation	5	15.1×	4e-04
Cap-dependent Translation Initiation	5	15.1×	4e-04
SARS-CoV-1 modulates host translation machinery	5	15.1×	4e-04
SRP-dependent cotranslational protein targeting to membrane	15	14.7×	2e-11

GO biological processes:

GO term	Partners	Fold	FDR
stress granule assembly	5	25.9×	2e-04
translational initiation	7	21.6×	8e-06
cytoplasmic translation	13	20.8×	4e-11
negative regulation of translation	8	13.5×	3e-05
translation	13	11.5×	4e-08
ribosomal small subunit biogenesis	5	9.8×	1e-02
positive regulation of translation	5	9.8×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

7 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

1365 predictions. Top by Δscore:

Variant	Effect	Δscore
15:63126855:A:AG	acceptor_gain	1.0000
15:63126855:AAAG:A	acceptor_gain	1.0000
15:63126856:A:G	acceptor_gain	1.0000
15:63126857:A:AG	acceptor_gain	1.0000
15:63126858:G:A	acceptor_gain	1.0000
15:63126858:G:GA	acceptor_gain	1.0000
15:63126858:GG:G	acceptor_loss	1.0000
15:63126858:GGTTT:G	acceptor_gain	1.0000
15:63127044:GAAAA:G	donor_loss	1.0000
15:63127046:AAAG:A	donor_loss	1.0000
15:63127047:AAGG:A	donor_loss	1.0000
15:63127049:GG:G	donor_loss	1.0000
15:63127050:G:GA	donor_loss	1.0000
15:63127349:TTAG:T	acceptor_loss	1.0000
15:63127350:TAG:T	acceptor_loss	1.0000
15:63127352:G:A	acceptor_loss	1.0000
15:63127686:CCTGG:C	donor_loss	1.0000
15:63127687:CTGG:C	donor_loss	1.0000
15:63127688:TGGTG:T	donor_loss	1.0000
15:63127689:GGTG:G	donor_loss	1.0000
15:63127690:GTGA:G	donor_loss	1.0000
15:63127691:T:A	donor_loss	1.0000
15:63129468:C:A	acceptor_gain	1.0000
15:63129471:A:AG	acceptor_gain	1.0000
15:63129471:AAT:A	acceptor_gain	1.0000
15:63129472:A:G	acceptor_gain	1.0000
15:63129473:T:TA	acceptor_gain	1.0000
15:63129646:GCAAG:G	donor_gain	1.0000
15:63129647:CAAG:C	donor_loss	1.0000
15:63129648:AAG:A	donor_loss	1.0000

AlphaMissense

541 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:63155706:G:C	F47L	1.000
15:63155706:G:T	F47L	1.000
15:63155708:A:G	F47L	1.000
15:63154050:A:C	F79L	0.999
15:63154050:A:T	F79L	0.999
15:63154052:A:G	F79L	0.999
15:63155635:G:T	A71D	0.999
15:63155641:C:A	G69V	0.999
15:63155644:C:A	G68V	0.999
15:63155644:C:T	G68E	0.999
15:63155655:G:C	C64W	0.999
15:63155681:A:G	C56R	0.999
15:63155698:G:T	A50D	0.999
15:63155703:G:C	S48R	0.999
15:63155703:G:T	S48R	0.999
15:63155704:C:A	S48I	0.999
15:63155705:T:G	S48R	0.999
15:63155708:A:T	F47I	0.999
15:63155710:A:T	V46D	0.999
15:63156419:A:G	C37R	0.999
15:63156432:A:C	F32L	0.999
15:63156432:A:T	F32L	0.999
15:63156434:A:G	F32L	0.999
15:63154047:T:A	R80S	0.998
15:63154047:T:G	R80S	0.998
15:63154048:C:A	R80I	0.998
15:63154048:C:G	R80T	0.998
15:63155621:C:A	G76W	0.998
15:63155641:C:T	G69E	0.998
15:63155656:C:T	C64Y	0.998

dbSNP variants (sampled 300 via entrez): RS1000263127 (15:63153702 G>C), RS1000303088 (15:63159325 G>A), RS1000576820 (15:63157659 T>G), RS1000629049 (15:63157842 G>A), RS1000635827 (15:63158129 G>T), RS1001621754 (15:63152962 T>C), RS1001966998 (15:63152375 G>A,T), RS1002114555 (15:63157545 C>A,T), RS1002224814 (15:63151519 C>T), RS1002269833 (15:63150868 C>G), RS1002308538 (15:63157188 T>C), RS1002682070 (15:63151975 T>C), RS1002722380 (15:63156165 T>C), RS1003065590 (15:63155976 T>C), RS1003275222 (15:63150832 G>T)

Disease associations

OMIM: gene MIM:612055 | 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
GCST006249_61	Serum metabolite levels	1.000000e-21
GCST010002_172	Refractive error	6.000000e-36

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067311 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.37	Kd	4.316	nM	CHEMBL5653589
8.37	ED50	4.316	nM	CHEMBL5653589
5.19	Kd	6464	nM	CHEMBL3752910
5.19	ED50	6464	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149302: Binding affinity to human RPS27L incubated for 45 mins by Kinobead based pull down assay	kd	0.0043	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149302: Binding affinity to human RPS27L incubated for 45 mins by Kinobead based pull down assay	kd	6.4644	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
bisphenol A	affects expression, decreases expression, increases expression	4
Air Pollutants	increases abundance, increases expression, decreases expression, affects cotreatment	4
Cisplatin	affects expression, increases expression	4
sodium arsenite	decreases expression, increases expression	3
Benzo(a)pyrene	increases expression	3
Fluorouracil	affects reaction, decreases expression, increases expression	3
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation, affects expression, increases expression	3
mercuric bromide	affects cotreatment, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	2
Cadmium	decreases reaction, increases abundance, increases palmitoylation, increases expression	2
Doxorubicin	increases expression, affects expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tunicamycin	affects expression, increases expression	2
Cyclosporine	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
chloroacetaldehyde	affects expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
potassium bromate	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
N-benzyloxycarbonylprolylprolinal	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
beta-methylcholine	affects expression	1
azoxystrobin	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652344	Binding	Binding affinity to human RPS27L incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2E5	Abcam HeLa RPS27L KO	Cancer cell line	Female

Clinical trials (associated diseases)

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