RPL27

Summary

RPL27 (ribosomal protein L27, HGNC:10328) is a protein-coding gene on chromosome 17q21.31, encoding Large ribosomal subunit protein eL27 (P61353). Component of the large ribosomal subunit. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Source: NCBI Gene 6155 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia 16 (Moderate, GenCC)
• Clinical variants (ClinVar): 63 total — 1 pathogenic
• Phenotypes (HPO): 63
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_000988

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10328
Approved symbol	RPL27
Name	ribosomal protein L27
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	L27, eL27
Ensembl gene	ENSG00000131469
Ensembl biotype	protein_coding
OMIM	607526
Entrez	6155

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000253788, ENST00000586277, ENST00000587478, ENST00000588830, ENST00000589037, ENST00000589913, ENST00000590864, ENST00000593262, ENST00000905376, ENST00000905377, ENST00000911439, ENST00000911440, ENST00000911441, ENST00000911442, ENST00000911443, ENST00000911444

RefSeq mRNA: 3 — MANE Select: NM_000988 NM_000988, NM_001349921, NM_001349922

CCDS: CCDS11449

Canonical transcript exons

ENST00000253788 — 5 exons

Exon	Start	End
ENSE00001118531	42999933	43000102
ENSE00001421863	42998749	42998831
ENSE00003467688	43002673	43002783
ENSE00003899719	43002872	43002959
ENSE00003900060	42998419	42998471

Expression profiles

Bgee: expression breadth ubiquitous, 300 present calls, max score 99.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 180.3509 / max 1106.5533, expressed in 1824 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161035	158.2514	1824
161036	14.8153	1736
161037	3.2169	1173
161039	1.9572	1046
161038	1.0648	464
208204	0.6460	332
208203	0.3992	173

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.95	gold quality
cervix squamous epithelium	UBERON:0006922	99.95	gold quality
pancreatic ductal cell	CL:0002079	99.94	gold quality
pylorus	UBERON:0001166	99.94	gold quality
germinal epithelium of ovary	UBERON:0001304	99.94	gold quality
nipple	UBERON:0002030	99.93	gold quality
urethra	UBERON:0000057	99.92	gold quality
epithelium of nasopharynx	UBERON:0001951	99.92	gold quality
saphenous vein	UBERON:0007318	99.92	gold quality
epithelial cell of pancreas	CL:0000083	99.91	gold quality
penis	UBERON:0000989	99.91	gold quality
mammary duct	UBERON:0001765	99.91	gold quality
parietal pleura	UBERON:0002400	99.91	gold quality
pericardium	UBERON:0002407	99.91	gold quality
epithelium of mammary gland	UBERON:0003244	99.91	gold quality
upper arm skin	UBERON:0004263	99.91	gold quality
cardia of stomach	UBERON:0001162	99.90	gold quality
superficial temporal artery	UBERON:0001614	99.90	gold quality
nasopharynx	UBERON:0001728	99.90	gold quality
superior surface of tongue	UBERON:0007371	99.90	gold quality
periodontal ligament	UBERON:0008266	99.90	gold quality
pleura	UBERON:0000977	99.89	gold quality
palpebral conjunctiva	UBERON:0001812	99.89	gold quality
hair follicle	UBERON:0002073	99.89	gold quality
trabecular bone tissue	UBERON:0002483	99.89	gold quality
choroid plexus epithelium	UBERON:0003911	99.89	gold quality
tongue squamous epithelium	UBERON:0006919	99.89	gold quality
tongue	UBERON:0001723	99.88	gold quality
parotid gland	UBERON:0001831	99.88	gold quality
mammary gland	UBERON:0001911	99.88	gold quality

Single-cell (SCXA)

Detected in 25 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-GEOD-75688	yes	1271.25
E-MTAB-8142	yes	153.71
E-CURD-122	yes	74.22
E-CURD-88	yes	64.29
E-CURD-46	yes	56.00
E-MTAB-9221	yes	53.22
E-CURD-112	yes	33.37
E-HCAD-31	yes	23.76
E-MTAB-10042	yes	15.79
E-GEOD-135922	yes	11.40
E-HCAD-35	yes	7.21
E-CURD-79	no	3791.63
E-MTAB-10596	no	3219.64
E-MTAB-7381	no	909.35
E-CURD-135	no	794.44

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 3)

• Loss of function mutations in RPL27 and RPS27 lead to Diamond-Blackfan anaemia. (PMID:25424902)
• RPL27 contributes to colorectal cancer proliferation and stemness via PLK1 signaling. (PMID:37387446)
• Effect of RPL27 knockdown on the proliferation and apoptosis of human liver cancer cells. (PMID:37812860)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl27	ENSDARG00000015128
mus_musculus	Rpl27	ENSMUSG00000063316
rattus_norvegicus	Rpl27	ENSRNOG00000020674
drosophila_melanogaster	RpL27	FBGN0039359
caenorhabditis_elegans	rpl-27	WBGENE00004441

Protein

Protein identifiers

Large ribosomal subunit protein eL27 — P61353 (reviewed: P61353)

Alternative names: 60S ribosomal protein L27

All UniProt accessions (4): P61353, K7ELC7, K7EQQ9, K7ERY7

UniProt curated annotations — full annotation on UniProt →

Function. Component of the large ribosomal subunit. Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs.

Subunit / interactions. Component of the large ribosomal subunit. Interacts with RRP1B. Interacts with DHX33.

Subcellular location. Cytoplasm. Cytosol. Rough endoplasmic reticulum.

Disease relevance. Diamond-Blackfan anemia 16 (DBA16) [MIM:617408] An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the eukaryotic ribosomal protein eL27 family.

RefSeq proteins (3): NP_000979, NP_001336850, NP_001336851 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001141	Ribosomal_eL27	Family
IPR005824	KOW	Domain
IPR008991	Translation_prot_SH3-like_sf	Homologous_superfamily
IPR018262	Ribosomal_eL27_CS	Conserved_site
IPR038655	Ribosomal_eL27_sf	Homologous_superfamily
IPR041991	Ribosomal_eL27_KOW	Domain

Pfam: PF00467, PF01777

UniProt features (4 total): modified residue 2, chain 1, domain 1

Structure

Experimental structures (PDB)

181 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8A3D	ELECTRON MICROSCOPY	1.67
8GLP	ELECTRON MICROSCOPY	1.67
8QYX	ELECTRON MICROSCOPY	1.78
8QOI	ELECTRON MICROSCOPY	1.9
9O3W	ELECTRON MICROSCOPY	1.9
8YOO	ELECTRON MICROSCOPY	2
9C3H	ELECTRON MICROSCOPY	2
9I2D	ELECTRON MICROSCOPY	2.19
9PBE	ELECTRON MICROSCOPY	2.19
8QFD	ELECTRON MICROSCOPY	2.2
8YOP	ELECTRON MICROSCOPY	2.2
9GUL	ELECTRON MICROSCOPY	2.2
9O3V	ELECTRON MICROSCOPY	2.2
9O3Y	ELECTRON MICROSCOPY	2.2
8JDK	ELECTRON MICROSCOPY	2.26
8G5Y	ELECTRON MICROSCOPY	2.29
9S3D	ELECTRON MICROSCOPY	2.32
9RPV	ELECTRON MICROSCOPY	2.35
9S3B	ELECTRON MICROSCOPY	2.38
7OW7	ELECTRON MICROSCOPY	2.4
8K2C	ELECTRON MICROSCOPY	2.4
8XSX	ELECTRON MICROSCOPY	2.4
9SPF	ELECTRON MICROSCOPY	2.4
9SPI	ELECTRON MICROSCOPY	2.4
8JDL	ELECTRON MICROSCOPY	2.42
9S3C	ELECTRON MICROSCOPY	2.42
9QLO	ELECTRON MICROSCOPY	2.47
8FLE	ELECTRON MICROSCOPY	2.48
9P8B	ELECTRON MICROSCOPY	2.48
8JDJ	ELECTRON MICROSCOPY	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61353-F1	94.40	0.88

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): 27, 93

Function

Pathways and Gene Ontology

Reactome pathways

16 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-72689	Formation of a pool of free 40S subunits
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-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-9954709	Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
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

MSigDB gene sets: 471 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RIBOSOME_BIOGENESIS, MODULE_151, GNF2_TPT1, GCM_NPM1, MORF_UBE2I, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, HSIAO_HOUSEKEEPING_GENES, GOBP_MALE_GAMETE_GENERATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, PUJANA_CHEK2_PCC_NETWORK, GOBP_TRANSLATION, GCM_PSME1, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MUSCLE_CONTRACTION

GO Biological Process (3): cytoplasmic translation (GO:0002181), rRNA processing (GO:0006364), translation (GO:0006412)

GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (16): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), ribosome (GO:0005840), focal adhesion (GO:0005925), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), synapse (GO:0045202), extracellular exosome (GO:0070062), cytoplasmic side of rough endoplasmic reticulum membrane (GO:0098556), ribonucleoprotein complex (GO:1990904), endoplasmic reticulum (GO:0005783), rough endoplasmic reticulum (GO:0005791)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Ribosome-associated quality control	3
Translation	2
Cap-dependent Translation Initiation	2
Nonsense-Mediated Decay (NMD)	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
Signaling by ROBO receptors	1
Cellular response to starvation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
ribosome	2
intracellular membrane-bounded organelle	2
nuclear lumen	2
intracellular membraneless organelle	2
cytoplasm	2
translation	1
RNA processing	1
rRNA metabolic process	1
ribosome 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
nucleic acid binding	1
structural molecule activity	1
binding	1
intracellular anatomical structure	1
cell-substrate junction	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
cell junction	1
extracellular vesicle	1
rough endoplasmic reticulum membrane	1
cytoplasmic side of endoplasmic reticulum membrane	1
protein-containing complex	1
endomembrane system	1
endoplasmic reticulum	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

248 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
XPC	CETN3	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
FAM90A1	KPNA3	psi-mi:“MI:0914”(association)	0.670
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
HTT	RPL27	psi-mi:“MI:0915”(physical association)	0.560
RPL27	PPP1CC	psi-mi:“MI:0914”(association)	0.530
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
KNOP1	DHX15	psi-mi:“MI:0914”(association)	0.530
RPL30	RRP8	psi-mi:“MI:0914”(association)	0.530
PUM3	RRP8	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
RRP1B	RPL27	psi-mi:“MI:0915”(physical association)	0.500
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480

BioGRID (645): RPL27 (Affinity Capture-MS), RPL27 (Affinity Capture-MS), RPL27 (Affinity Capture-MS), RPL27 (Affinity Capture-MS), DDX56 (Co-fractionation), NOC2L (Co-fractionation), RPL10 (Co-fractionation), RPL10A (Co-fractionation), RPL11 (Co-fractionation), RPL12 (Co-fractionation), RPL13A (Co-fractionation), RPL14 (Co-fractionation), RPL15 (Co-fractionation), RPL23A (Co-fractionation), RPL27 (Co-fractionation)

ESM2 similar proteins: A1XQU3, A1XQU5, G1SE28, G1SKF7, G1SZ12, G1TXF6, O65743, O94776, P21533, P37108, P38666, P47911, P50888, P50914, P55844, P61122, P61353, P61354, P61355, P61356, P61357, P61358, P83731, P83732, Q02878, Q2YGT9, Q3T0U2, Q42347, Q4R5C7, Q4R8Z4, Q58DQ3, Q63507, Q66WF5, Q6QMZ4, Q6Y263, Q862I1, Q8BP67, Q8ISQ3, Q8JGR4, Q90YQ0

Diamond homologs: A0A1D8PFG4, A1XQU5, G1TXF6, O14388, O74538, P0C2H6, P0C2H7, P0DJ19, P41101, P51419, P61353, P61354, P61355, P61356, P61357, P61358, P61359, P91914, Q02984, Q05462, Q4R8Z4, Q55BE6, Q7ZV82, Q8LCL3, Q90YU1, Q9P843, Q9SKX8, Q9XSU7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL27	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 222 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
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	23	16.2×	3e-19
Peptide chain elongation	21	16.0×	7e-18
Viral mRNA Translation	21	16.0×	7e-18
Eukaryotic Translation Termination	22	15.8×	2e-18
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	21	15.8×	7e-18
SRP-dependent cotranslational protein targeting to membrane	26	15.6×	3e-21
Selenocysteine synthesis	21	15.1×	2e-17
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	21	14.8×	2e-17

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	24	22.9×	3e-23
stress granule assembly	6	18.6×	2e-04
ribosomal large subunit biogenesis	7	16.0×	6e-05
translation	24	12.7×	5e-17
regulation of signal transduction by p53 class mediator	6	11.8×	2e-03
mRNA stabilization	6	11.3×	2e-03
negative regulation of translation	10	10.1×	2e-05
rRNA processing	12	8.8×	6e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	24
Likely benign	26
Benign	8

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
417776	NM_000988.5(RPL27):c.-2-1G>A	Pathogenic

SpliceAI

451 predictions. Top by Δscore:

Variant	Effect	Δscore
17:42998385:G:GT	donor_gain	1.0000
17:42998423:G:GT	donor_gain	1.0000
17:42998829:AAG:A	donor_gain	1.0000
17:42998829:AAGG:A	donor_loss	1.0000
17:42998830:AGG:A	donor_loss	1.0000
17:42998832:GT:G	donor_loss	1.0000
17:42999928:TTTA:T	acceptor_loss	1.0000
17:42999929:TTA:T	acceptor_loss	1.0000
17:42999931:A:AG	acceptor_gain	1.0000
17:42999931:AGAAC:A	acceptor_loss	1.0000
17:42999932:G:GG	acceptor_gain	1.0000
17:42999932:GA:G	acceptor_gain	1.0000
17:42999932:GAA:G	acceptor_gain	1.0000
17:42999932:GAAC:G	acceptor_gain	1.0000
17:42999932:GAACA:G	acceptor_gain	1.0000
17:43000053:A:G	donor_gain	1.0000
17:43000068:AAAGT:A	donor_gain	1.0000
17:43000099:CAAGG:C	donor_loss	1.0000
17:43000100:AAGGT:A	donor_loss	1.0000
17:43000101:AGGTG:A	donor_loss	1.0000
17:43000102:GGTG:G	donor_loss	1.0000
17:43000103:G:A	donor_loss	1.0000
17:43000104:T:A	donor_loss	1.0000
17:43002664:T:TA	acceptor_gain	1.0000
17:43002669:CCAG:C	acceptor_loss	1.0000
17:43002670:CAG:C	acceptor_loss	1.0000
17:43002671:A:AG	acceptor_gain	1.0000
17:43002671:A:C	acceptor_loss	1.0000
17:43002671:AG:A	acceptor_gain	1.0000
17:43002672:G:GA	acceptor_gain	1.0000

AlphaMissense

885 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:42998797:G:A	G16E	1.000
17:42998809:G:A	G20E	1.000
17:42998816:A:C	K22N	1.000
17:42998816:A:T	K22N	1.000
17:42998818:C:A	A23D	1.000
17:42998821:T:A	V24D	1.000
17:42999973:C:A	A41D	1.000
17:42999982:C:A	A44D	1.000
17:42999984:G:A	G45R	1.000
17:42999984:G:C	G45R	1.000
17:42999985:G:A	G45E	1.000
17:42999985:G:T	G45V	1.000
17:43000062:T:C	F71L	1.000
17:43000064:T:A	F71L	1.000
17:43000064:T:G	F71L	1.000
17:43000090:T:C	L80P	1.000
17:43000099:C:T	T83I	1.000
17:43000102:G:C	R84T	1.000
17:43000102:G:T	R84M	1.000
17:43002673:G:C	R84S	1.000
17:43002673:G:T	R84S	1.000
17:43002750:C:A	A110D	1.000
17:43002894:T:A	W129R	1.000
17:43002894:T:C	W129R	1.000
17:43002896:G:C	W129C	1.000
17:43002896:G:T	W129C	1.000
17:43002900:T:C	F131L	1.000
17:43002902:C:A	F131L	1.000
17:43002902:C:G	F131L	1.000
17:42998782:T:A	V11E	0.999

dbSNP variants (sampled 300 via entrez): RS1000185672 (17:42998421 C>T), RS1000289459 (17:42998201 TC>T), RS1000659295 (17:42997124 G>C), RS1000724211 (17:42998564 A>T), RS1000892965 (17:42996386 G>A,C), RS1001004601 (17:43002395 T>A,C), RS1001082731 (17:43002973 T>C), RS1001457753 (17:42999094 G>C), RS1003128072 (17:43000971 C>A,T), RS1003526319 (17:43001353 C>G), RS1004069908 (17:43001754 G>T), RS1004354632 (17:43001310 A>C), RS1004501793 (17:43000912 G>T), RS1004692046 (17:42999588 G>A), RS1004853479 (17:43000491 T>G)

Disease associations

OMIM: gene MIM:607526 | disease phenotypes: MIM:617408

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia 16	Moderate	Autosomal dominant

Mondo (1): Diamond-Blackfan anemia 16 (MONDO:0044309)

Orphanet (0):

HPO phenotypes

63 total (30 of 63 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000185	Cleft soft palate
HP:0000218	High palate
HP:0000234	Abnormality of the head
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000912	Sprengel anomaly
HP:0000980	Pallor
HP:0001087	Developmental glaucoma
HP:0001199	Triphalangeal thumb
HP:0001227	Abnormality of the thenar eminence
HP:0001254	Lethargy
HP:0001510	Growth delay
HP:0001518	Small for gestational age
HP:0001627	Abnormal heart morphology
HP:0001629	Ventricular septal defect

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067575 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds).

Molecule	Name	Phase	Patents
CHEMBL6067484	GENTAMICIN SULFATE	4

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

ChEMBL bioactivities

50 potent at pChembl≥5 of 54 total, top 49 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.32	Kd	47.95	nM	CHEMBL5653589
7.32	ED50	47.95	nM	CHEMBL5653589
6.52	IC50	300	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4574496
6.41	IC50	390	nM	CHEMBL4126894
6.39	IC50	410	nM	CHEMBL4114159
6.35	IC50	450	nM	CHEMBL4126496
6.30	IC50	500	nM	CHEMBL4574496
6.30	IC50	500	nM	CHEMBL4560206
6.16	IC50	690	nM	CHEMBL4130157
6.15	IC50	710	nM	CHEMBL4108338
6.11	IC50	780	nM	CHEMBL4114159
6.09	IC50	820	nM	CHEMBL4109308
6.07	IC50	850	nM	CHEMBL4107559
6.07	IC50	850	nM	CHEMBL4533299
6.05	IC50	900	nM	CHEMBL4126894
6.05	IC50	900	nM	CHEMBL4126496
6.04	IC50	920	nM	CHEMBL4554909
5.97	IC50	1060	nM	CHEMBL4128388
5.89	IC50	1290	nM	CHEMBL4130157
5.86	IC50	1370	nM	CHEMBL4107559
5.84	IC50	1440	nM	CHEMBL4108338
5.81	IC50	1540	nM	CHEMBL4534859
5.76	IC50	1730	nM	CHEMBL4534859
5.69	IC50	2050	nM	CHEMBL4566239
5.68	IC50	2080	nM	CHEMBL4446635
5.66	IC50	2210	nM	CHEMBL4446635
5.66	EC50	2200	nM	CHEMBL4464929
5.64	IC50	2270	nM	CHEMBL4533299
5.63	IC50	2330	nM	CHEMBL4566239
5.62	IC50	2380	nM	CHEMBL4128388
5.58	IC50	2630	nM	CHEMBL4128250
5.55	IC50	2820	nM	CHEMBL4127458
5.53	IC50	2970	nM	CHEMBL4127311
5.51	IC50	3080	nM	CHEMBL4126072
5.46	IC50	3500	nM	CHEMBL4525277
5.44	IC50	3630	nM	CHEMBL4469712
5.39	IC50	4100	nM	CHEMBL4128560
5.37	IC50	4300	nM	CHEMBL4127016
5.36	IC50	4380	nM	CHEMBL4527910
5.28	Kd	5259	nM	CHEMBL3752910
5.28	ED50	5259	nM	CHEMBL3752910
5.16	IC50	7000	nM	CHEMBL4109308
5.13	IC50	7400	nM	CHLORAMPHENICOL SULFATE SALT
5.09	IC50	8040	nM	CHEMBL4128250
5.08	IC50	8370	nM	CHEMBL4128250
5.03	IC50	9320	nM	CHEMBL4127016
5.03	IC50	9240	nM	CHEMBL4128560

PubChem BioAssay actives

48 with measured affinity, of 209 total; 28 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	2149257: Binding affinity to human RPL27 incubated for 45 mins by Kinobead based pull down assay	kd	0.0479	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1585498: Binding affinity to 80S ribosome in human HuH7 cells expressing human C-terminal V5/6-His-tagged PCSK9 assessed as inhibition of PCSK9 secretion after 16 to 24 hrs by AlphaLISA method	ic50	0.3000	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-3-[4-(triazolo[4,5-b]pyridin-3-yl)phenyl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3800	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3900	uM
N-(3-chloro-2-pyridinyl)-4-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4100	uM
N-(3-chloro-2-pyridinyl)-4-(5-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4500	uM
N-(1-methylpyrrolo[2,3-c]pyridin-7-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.5000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.6900	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-5-(triazolo[4,5-b]pyridin-3-yl)pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.7100	uM
N-(3-chloro-2-pyridinyl)-3-[5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-2-pyridinyl]-N-[(3R)-piperidin-3-yl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-chloro-2-pyridinyl)-5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylpiperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.9200	uM
N-isoquinolin-1-yl-4-(1-methylpyrazol-4-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	1.0600	uM
N-isoquinolin-1-yl-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	1.5400	uM
N-(3-methyl-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.0500	uM
N-(3-chloro-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	2.0800	uM
N-(5,8-dihydroisoquinolin-1-yl)-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1584424: Inhibition of human 80S ribosome-mediated PCSK9 translation expressed in CHO-K1 cells assessed as reduction in PCSK9 secretion	ec50	2.2000	uM
N-isoquinolin-1-yl-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.6300	uM
N-(3-chloro-2-pyridinyl)-4-(6-methylpyrazin-2-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.8200	uM
N-(3-chloro-2-pyridinyl)-4-[6-(dimethylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.9700	uM
N-(3-chloro-2-pyridinyl)-4-[6-(methylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	3.0800	uM
N-isoquinolin-1-yl-4-(6-methyl-1,2-benzoxazol-3-yl)-N-[(3R)-piperidin-3-yl]piperazine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	3.5000	uM
N-(3-methylpyrazin-2-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	3.6300	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-6-(triazolo[4,5-b]pyridin-3-yl)pyridine-3-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.1000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazin-2-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.3000	uM
4-(2-fluorophenyl)-N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	4.3800	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149257: Binding affinity to human RPL27 incubated for 45 mins by Kinobead based pull down assay	kd	5.2585	uM
2,2-dichloro-N-[(1R,2R)-1,3-dihydroxy-1-(4-nitrophenyl)propan-2-yl]acetamide;sulfuric acid	717551: Inhibition of mitochondrial ribosome-mediated protein synthesis in human HeLa cells assessed as {35S]methionine incorporation by autoradiography	ic50	7.4000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression, increases methylation, decreases expression	5
bisphenol A	affects expression, decreases expression	3
Particulate Matter	decreases expression, increases abundance, affects cotreatment	3
Air Pollutants	decreases expression, increases abundance	2
Smoke	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
cobaltous chloride	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
isobutyl alcohol	increases abundance, affects cotreatment, decreases expression	1
fenpyroximate	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
pyrimidifen	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
fenbuconazole	increases expression	1
pyrachlostrobin	increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
MK2i peptide	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
picoxystrobin	increases expression	1
bisphenol AF	increases expression	1
Sunitinib	increases expression	1
Arsenic	increases expression, affects cotreatment, increases abundance	1

ChEMBL screening assays

90 unique, capped per target: 90 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1920845	Binding	Induction of ribosome to readthrough in human A-T lymphoblastoid cells assessed as ATM ser1981 autophosphorylation at 30 uM after 4 days by PTT-ELISA assay	Synthesis and evaluation of compounds that induce readthrough of premature termination codons. — Bioorg Med Chem Lett

Clinical trials (associated diseases)

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