RSL1D1

Summary

RSL1D1 (ribosomal L1 domain containing 1, HGNC:24534) is a protein-coding gene on chromosome 16p13.13, encoding Ribosomal L1 domain-containing protein 1 (O76021). Regulates cellular senescence through inhibition of PTEN translation. It is a common-essential gene (DepMap: required in 99.7% of cancer cell lines).

Enables mRNA 3’-UTR binding activity and mRNA 5’-UTR binding activity. Involved in regulation of apoptotic process and regulation of cellular senescence. Acts upstream of or within regulation of protein localization. Located in several cellular components, including cilium; cytosol; and nucleolus.

Source: NCBI Gene 26156 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 82 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 99.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_015659

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24534
Approved symbol	RSL1D1
Name	ribosomal L1 domain containing 1
Location	16p13.13
Locus type	gene with protein product
Status	Approved
Aliases	Cic1, PBK1, L12, DKFZP564M182, CSIG, UTP30
Ensembl gene	ENSG00000171490
Ensembl biotype	protein_coding
OMIM	615874
Entrez	26156

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 10 protein_coding, 5 nonsense_mediated_decay, 2 retained_intron

ENST00000355674, ENST00000396503, ENST00000570767, ENST00000571133, ENST00000571988, ENST00000572090, ENST00000573029, ENST00000573251, ENST00000573618, ENST00000573791, ENST00000574287, ENST00000574823, ENST00000898748, ENST00000898749, ENST00000927449, ENST00000927450, ENST00000945286

RefSeq mRNA: 1 — MANE Select: NM_015659 NM_015659

CCDS: CCDS10551

Canonical transcript exons

ENST00000571133 — 9 exons

Exon	Start	End
ENSE00001525231	11851408	11851542
ENSE00002658500	11833850	11838113
ENSE00003510902	11847668	11847806
ENSE00003512839	11839695	11839985
ENSE00003523022	11846501	11846602
ENSE00003528683	11841907	11842000
ENSE00003540065	11846695	11846843
ENSE00003544900	11850279	11850418
ENSE00003592326	11841695	11841820

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 105.8811 / max 1794.9435, expressed in 1825 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156322	97.4856	1825
156323	5.1444	1597
156318	1.5011	789
156321	1.3383	786
156320	0.4117	219

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	99.05	gold quality
left ovary	UBERON:0002119	98.66	gold quality
monocyte	CL:0000576	98.51	gold quality
mononuclear cell	CL:0000842	98.45	gold quality
leukocyte	CL:0000738	98.37	gold quality
body of pancreas	UBERON:0001150	98.12	gold quality
gastrocnemius	UBERON:0001388	98.06	gold quality
right ovary	UBERON:0002118	98.05	gold quality
ganglionic eminence	UBERON:0004023	98.00	gold quality
colonic epithelium	UBERON:0000397	97.93	gold quality
ventricular zone	UBERON:0003053	97.92	gold quality
muscle of leg	UBERON:0001383	97.91	gold quality
cortical plate	UBERON:0005343	97.87	gold quality
type B pancreatic cell	CL:0000169	97.69	gold quality
adrenal tissue	UBERON:0018303	97.66	gold quality
ovary	UBERON:0000992	97.53	gold quality
pancreas	UBERON:0001264	97.41	gold quality
rectum	UBERON:0001052	97.39	gold quality
endocervix	UBERON:0000458	97.37	gold quality
islet of Langerhans	UBERON:0000006	97.35	gold quality
smooth muscle tissue	UBERON:0001135	97.23	gold quality
muscle organ	UBERON:0001630	97.18	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	97.13	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.13	gold quality
gall bladder	UBERON:0002110	97.09	gold quality
lymph node	UBERON:0000029	97.05	gold quality
ectocervix	UBERON:0012249	96.97	gold quality
left uterine tube	UBERON:0001303	96.93	gold quality
omental fat pad	UBERON:0010414	96.93	gold quality
peritoneum	UBERON:0002358	96.92	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-10042	yes	13.51
E-GEOD-125970	yes	13.17
E-CURD-112	yes	9.54
E-CURD-89	no	1154.14
E-MTAB-9689	no	652.79
E-MTAB-8911	no	283.62
E-HCAD-6	no	35.93
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

94 targeting RSL1D1, 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-4795-3P	100.00	74.62	4024
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 9)

• Our results suggest that PBK1 is involved in the regulation of uPA expression, which might provide a new clue to further understanding the regulation mechanism of uPA expression. (PMID:15880258)
• CSIG acts as a novel regulatory component of replicative senescence, which requires PTEN as a mediator and involves in a translational regulatory mechanism. (PMID:18678645)
• High CSIG promotes hepatocellular carcinoma proliferation by activating c-MYC expression. (PMID:25749381)
• The nucleolar protein CSIG is a novel and crucial regulator of the MDM2-p53 pathway. We demonstrate that CSIG translocates from the nucleolus to the nucleoplasm in response to nucleolar stress. Moreover, knockdown of CSIG attenuates the induction of p53 and abrogates G1 phase arrest in response to nucleolar stress (PMID:27811966)
• CSIG enhanced the phosphatase activity of PPM1A and further inhibited TGF-beta signaling. (PMID:30201805)
• Ribosomal L1 domain-containing protein 1 coordinates with HDM2 to negatively regulate p53 in human colorectal Cancer cells. (PMID:34362424)
• RSL1D1 promotes the progression of colorectal cancer through RAN-mediated autophagy suppression. (PMID:35013134)
• Mutations in DNA binding domain of p53 impede RSL1D1-p53 interaction to escape from degradation in human colorectal cancer cells. (PMID:35597299)
• RSL1D1 knockdown induces ferroptosis and mediates ferrous iron accumulation in senescent cells by inhibiting FTH1 mRNA stability. (PMID:36913375)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rsl1d1	ENSDARG00000055868
mus_musculus	Rsl1d1	ENSMUSG00000005846
rattus_norvegicus	Rsl1d1	ENSRNOG00000069630
drosophila_melanogaster	RpL7A	FBGN0014026
caenorhabditis_elegans		WBGENE00004419

Paralogs (3): NHP2 (ENSG00000145912), RPL7A (ENSG00000148303), RPL10A (ENSG00000198755)

Protein

Protein identifiers

Ribosomal L1 domain-containing protein 1 — O76021 (reviewed: O76021)

Alternative names: CATX-11, Cellular senescence-inhibited gene protein, Protein PBK1

All UniProt accessions (10): O76021, I3L1A3, I3L1Y4, I3L234, I3L2F2, I3L3C4, I3L3U9, I3L4T8, J3KPU7, J3QSV6

UniProt curated annotations — full annotation on UniProt →

Function. Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage.

Subunit / interactions. Interacts with ING1 (isoform 2). Interacts with KPNA7 and KPNA2.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Expressed at high intensities in the heart, skeletal muscle, and placenta.

Induction. Down-regulated during cellular senescence.

Similarity. Belongs to the universal ribosomal protein uL1 family. Highly divergent.

Isoforms (2)

UniProt ID	Names	Canonical?
O76021-1	1	yes
O76021-2	2

RefSeq proteins (1): NP_056474* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016095	Ribosomal_uL1_3-a/b-sand	Homologous_superfamily
IPR023674	Ribosomal_uL1-like	Homologous_superfamily
IPR028364	Ribosomal_uL1/biogenesis	Family

Pfam: PF00687

UniProt features (34 total): modified residue 14, compositionally biased region 7, cross-link 5, sequence conflict 3, region of interest 2, chain 1, coiled-coil region 1, splice variant 1

Structure

Experimental structures (PDB)

20 structures.

PDB	Method	Resolution (Å)
8FKV	ELECTRON MICROSCOPY	2.47
8FKW	ELECTRON MICROSCOPY	2.5
8FLD	ELECTRON MICROSCOPY	2.58
8FKX	ELECTRON MICROSCOPY	2.59
8FL6	ELECTRON MICROSCOPY	2.62
8FLA	ELECTRON MICROSCOPY	2.63
8FKY	ELECTRON MICROSCOPY	2.67
8FL2	ELECTRON MICROSCOPY	2.67
8FKQ	ELECTRON MICROSCOPY	2.76
8FKT	ELECTRON MICROSCOPY	2.81
8FKU	ELECTRON MICROSCOPY	2.82
8FKP	ELECTRON MICROSCOPY	2.85
8FKS	ELECTRON MICROSCOPY	2.88
8FKR	ELECTRON MICROSCOPY	2.89
8INF	ELECTRON MICROSCOPY	3
8FKZ	ELECTRON MICROSCOPY	3.04
8INE	ELECTRON MICROSCOPY	3.2
8IPY	ELECTRON MICROSCOPY	3.2
8IR3	ELECTRON MICROSCOPY	3.5
8IPX	ELECTRON MICROSCOPY	4.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O76021-F1	67.70	0.30

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 (19): 1, 340, 358, 361, 375, 392, 396, 415, 423, 427, 443, 465, 468, 469, 120, 254, 380, 435, 461

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 148 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, BROWNE_HCMV_INFECTION_8HR_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_OSTEOBLAST_DIFFERENTIATION, GOBP_CELLULAR_SENESCENCE, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, MORF_CCNI, MORF_BUB3, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_UP, GOBP_OSSIFICATION, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BASAKI_YBX1_TARGETS_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS

GO Biological Process (4): osteoblast differentiation (GO:0001649), regulation of protein localization (GO:0032880), regulation of apoptotic process (GO:0042981), regulation of cellular senescence (GO:2000772)

GO Molecular Function (5): RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), cadherin binding (GO:0045296), mRNA 5’-UTR binding (GO:0048027), protein binding (GO:0005515)

GO Cellular Component (6): chromosome (GO:0005694), nucleolus (GO:0005730), cytosol (GO:0005829), cilium (GO:0005929), membrane (GO:0016020), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mRNA binding	2
intracellular membraneless organelle	2
cellular anatomical structure	2
ossification	1
cell differentiation	1
intracellular protein localization	1
regulation of localization	1
apoptotic process	1
regulation of programmed cell death	1
regulation of cellular process	1
cellular senescence	1
nucleic acid binding	1
cell adhesion molecule binding	1
binding	1
nuclear lumen	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2873 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RSL1D1	NIFK	Q9BYG3	744
RSL1D1	GNL3	Q9BVP2	716
RSL1D1	UTP20	O75691	706
RSL1D1	BYSL	Q13895	704
RSL1D1	EMG1	Q92979	682
RSL1D1	MAK16	Q9BXY0	663
RSL1D1	WDR12	Q9GZL7	654
RSL1D1	DDX18	Q9NVP1	654
RSL1D1	GTPBP4	Q9BZE4	652
RSL1D1	PNO1	Q9NRX1	638
RSL1D1	EBNA1BP2	Q99848	634
RSL1D1	NOP14	P78316	620
RSL1D1	PA2G4	Q9UQ80	618
RSL1D1	ING1	Q9UK53	613
RSL1D1	RRP12	Q5JTH9	610

IntAct

296 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
N	HNRNPR	psi-mi:“MI:0914”(association)	0.730
MED19	MED19	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RPL7A	RSL1D1	psi-mi:“MI:0915”(physical association)	0.560
RBM28	RSL1D1	psi-mi:“MI:0915”(physical association)	0.560
DAXX	RSL1D1	psi-mi:“MI:0915”(physical association)	0.560
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
PUM3	RRP8	psi-mi:“MI:0914”(association)	0.530
NSA2	TYW5	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
ESR1		psi-mi:“MI:0914”(association)	0.460
RSL1D1	CSNK2A1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
PLS1	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
RSL1D1	LRRC59	psi-mi:“MI:0915”(physical association)	0.400
CYLC2	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
UTP11	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
CDR2L	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
APAF1	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
CCDC54	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
PLEKHD1	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
LECT2	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
CREBL2	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
TTN	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
DST	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (616): RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), RSL1D1 (Affinity Capture-MS), H1FX (Co-fractionation), RSL1D1 (Co-fractionation), RSL1D1 (Co-fractionation)

ESM2 similar proteins: A4FV97, D4ACP5, O09130, O35144, O76021, P38432, P51612, Q01831, Q05CL8, Q08288, Q14684, Q15554, Q28G87, Q32LC1, Q58CQ0, Q58CQ5, Q5I0E6, Q5NC05, Q5NVA9, Q5R8S0, Q5RCE6, Q5RDL2, Q5SU73, Q5SXM2, Q5XI01, Q5ZJJ1, Q66H19, Q66H85, Q6AYK5, Q6IRU7, Q7TSG2, Q80UU1, Q8BJW7, Q8BVY0, Q8N163, Q8VDP4, Q8VID5, Q91VE6, Q91YK2, Q96AY2

Diamond homologs: A4FV97, O76021, Q5RCE6, Q8BVY0, Q9UT32, Q9Y7R7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 212 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
Eukaryotic Translation Initiation	8	18.2×	4e-07
Cap-dependent Translation Initiation	8	18.2×	4e-07
SARS-CoV-1 modulates host translation machinery	8	18.2×	4e-07
Peptide chain elongation	18	16.8×	3e-15
Viral mRNA Translation	18	16.8×	3e-15
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	18	16.6×	3e-15
Eukaryotic Translation Elongation	8	16.4×	8e-07
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	8	16.0×	9e-07

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	19	19.4×	2e-16
ribosomal small subunit biogenesis	12	15.1×	8e-09
negative regulation of translation	11	11.9×	6e-07
translation	20	11.3×	6e-13
rRNA processing	11	8.6×	2e-05
regulation of alternative mRNA splicing, via spliceosome	6	8.1×	1e-02
chromatin remodeling	12	4.8×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	59
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1037 predictions. Top by Δscore:

Variant	Effect	Δscore
16:11838114:C:CC	acceptor_gain	1.0000
16:11839692:TAC:T	donor_loss	1.0000
16:11839696:T:TA	donor_gain	1.0000
16:11839699:A:AC	donor_gain	1.0000
16:11839700:C:CC	donor_gain	1.0000
16:11839711:G:C	donor_gain	1.0000
16:11839725:T:A	donor_gain	1.0000
16:11839981:GCCTC:G	acceptor_gain	1.0000
16:11839982:CCTCC:C	acceptor_gain	1.0000
16:11839985:CCT:C	acceptor_loss	1.0000
16:11839986:C:CA	acceptor_loss	1.0000
16:11839990:C:CT	acceptor_gain	1.0000
16:11839991:A:T	acceptor_gain	1.0000
16:11841690:CTAA:C	donor_gain	1.0000
16:11841691:TAA:T	donor_loss	1.0000
16:11841692:AAC:A	donor_loss	1.0000
16:11841693:A:AC	donor_gain	1.0000
16:11841694:C:CA	donor_gain	1.0000
16:11841694:CT:C	donor_gain	1.0000
16:11841816:CACTT:C	acceptor_gain	1.0000
16:11841818:CTT:C	acceptor_gain	1.0000
16:11841819:TT:T	acceptor_gain	1.0000
16:11841820:TCTGA:T	acceptor_loss	1.0000
16:11841821:C:CC	acceptor_gain	1.0000
16:11841822:T:C	acceptor_loss	1.0000
16:11841996:TAGCA:T	acceptor_gain	1.0000
16:11842001:C:CC	acceptor_gain	1.0000
16:11846533:TGTTC:T	donor_gain	1.0000
16:11846601:CT:C	acceptor_gain	1.0000
16:11846603:C:CC	acceptor_gain	1.0000

AlphaMissense

3196 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:11846597:G:T	P180Q	0.994
16:11846597:G:C	P180R	0.992
16:11846719:C:T	G170E	0.992
16:11846772:A:C	F152L	0.992
16:11846772:A:T	F152L	0.992
16:11846774:A:G	F152L	0.992
16:11847759:A:G	F98S	0.992
16:11847764:A:C	C96W	0.992
16:11846709:G:C	F173L	0.991
16:11846709:G:T	F173L	0.991
16:11846711:A:G	F173L	0.991
16:11846824:A:G	L135P	0.991
16:11841949:G:C	N229K	0.990
16:11841949:G:T	N229K	0.990
16:11841986:C:T	G217D	0.990
16:11846719:C:A	G170V	0.990
16:11846755:T:A	D158V	0.990
16:11846785:A:G	L148P	0.990
16:11847762:A:G	L97S	0.990
16:11850409:C:G	A39P	0.990
16:11841758:A:C	F264L	0.989
16:11841758:A:T	F264L	0.989
16:11841760:A:G	F264L	0.989
16:11841801:A:G	L250P	0.989
16:11847766:A:G	C96R	0.988
16:11841762:A:T	I263N	0.987
16:11841768:A:G	L261P	0.986
16:11841789:T:A	K254I	0.986
16:11846756:C:G	D158H	0.986
16:11841778:A:G	S258P	0.985

dbSNP variants (sampled 300 via entrez): RS1000066587 (16:11849509 C>G), RS1000214962 (16:11840255 T>A,C), RS1000228397 (16:11844841 C>A), RS1000394107 (16:11834801 T>C), RS1000491676 (16:11835846 G>A), RS1000576788 (16:11841064 T>C), RS1000600149 (16:11845098 T>C), RS1000753964 (16:11836813 A>G), RS1000821355 (16:11836021 C>A,G,T), RS1000934400 (16:11848124 G>A,T), RS1000969668 (16:11846041 G>A,C), RS1001069776 (16:11847938 C>A,T), RS1001141318 (16:11852149 C>T), RS1001240025 (16:11843560 GC>G), RS1001489332 (16:11851889 G>A)

Disease associations

OMIM: gene MIM:615874 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003246_3	Testicular germ cell tumor	2.000000e-08
GCST004635_30	Testicular germ cell tumor	6.000000e-07
GCST004713_31	Testicular germ cell tumor	4.000000e-07
GCST006979_248	Heel bone mineral density	8.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1075139 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects expression	3
Benzo(a)pyrene	increases expression, increases methylation	3
Cyclosporine	increases expression	3
Aflatoxin B1	increases expression, increases methylation, affects cotreatment, decreases expression	3
deoxynivalenol	increases expression	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	2
Acrolein	increases oxidation, increases abundance, affects cotreatment	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases oxidation	2
Ozone	affects cotreatment, increases oxidation, increases abundance	2
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	2
Cadmium Chloride	decreases expression	2
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
TAK-243	decreases sumoylation	1
testosterone enanthate	affects expression	1
chloroacetaldehyde	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bis(tri-n-butyltin)oxide	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
bleomycetin	increases expression	1
potassium chromate(VI)	increases expression	1
coumarin	affects phosphorylation	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1104342	Binding	Inhibition of PBK1 at 10 uM assessed as residual activity by [33P]ATP radioactive filter binding assay relative to control	Synthesis and biological evaluation of 4-anilinoquinolines as potent inhibitors of epidermal growth factor receptor. — J Med Chem

Clinical trials (associated diseases)

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