PSRC1

Summary

PSRC1 (proline and serine rich coiled-coil 1, HGNC:24472) is a protein-coding gene on chromosome 1p13.3, encoding Proline/serine-rich coiled-coil protein 1 (Q6PGN9). Required for normal progression through mitosis.

This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described.

Source: NCBI Gene 84722 — RefSeq curated summary.

At a glance

• GWAS associations: 54
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_001032291

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24472
Approved symbol	PSRC1
Name	proline and serine rich coiled-coil 1
Location	1p13.3
Locus type	gene with protein product
Status	Approved
Aliases	DDA3
Ensembl gene	ENSG00000134222
Ensembl biotype	protein_coding
OMIM	613126
Entrez	84722

Gene structure

Transcript identifiers

Ensembl transcripts: 48 — 45 protein_coding, 3 retained_intron

ENST00000369903, ENST00000369904, ENST00000369907, ENST00000369909, ENST00000409138, ENST00000409267, ENST00000418914, ENST00000429031, ENST00000459765, ENST00000471740, ENST00000474126, ENST00000492431, ENST00000902365, ENST00000902366, ENST00000902367, ENST00000902368, ENST00000902369, ENST00000902370, ENST00000902371, ENST00000902372, ENST00000902373, ENST00000902374, ENST00000902375, ENST00000902376, ENST00000902377, ENST00000902378, ENST00000916108, ENST00000916109, ENST00000916110, ENST00000916111, ENST00000916112, ENST00000916113, ENST00000916114, ENST00000916115, ENST00000916116, ENST00000916117, ENST00000916118, ENST00000916119, ENST00000916120, ENST00000916121, ENST00000916122, ENST00000916123, ENST00000954357, ENST00000954358, ENST00000954359, ENST00000954360, ENST00000954361, ENST00000954362

RefSeq mRNA: 14 — MANE Select: NM_001032291 NM_001005290, NM_001032291, NM_001350237, NM_001350238, NM_001350239, NM_001350240, NM_001350241, NM_001350242, NM_001363309, NM_001394002, NM_001394003, NM_001394004, NM_001394005, NM_032636

CCDS: CCDS30791, CCDS30792, CCDS797

Canonical transcript exons

ENST00000369909 — 8 exons

Exon	Start	End
ENSE00001451237	109283063	109283145
ENSE00002303540	109282680	109282736
ENSE00003473772	109280777	109281046
ENSE00003508241	109281619	109282060
ENSE00003542164	109279556	109280156
ENSE00003591081	109282518	109282575
ENSE00003614542	109281137	109281251
ENSE00003690161	109280396	109280489

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 97.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6174 / max 217.0966, expressed in 1517 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13685	6.9265	1430
13684	4.6909	1137

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	97.16	gold quality
ventricular zone	UBERON:0003053	96.64	gold quality
spinal cord	UBERON:0002240	96.56	gold quality
inferior olivary complex	UBERON:0002127	95.18	gold quality
inferior vagus X ganglion	UBERON:0005363	94.33	gold quality
Ammon’s horn	UBERON:0001954	93.89	gold quality
right frontal lobe	UBERON:0002810	93.74	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.40	gold quality
substantia nigra	UBERON:0002038	93.38	gold quality
midbrain	UBERON:0001891	92.89	gold quality
anterior cingulate cortex	UBERON:0009835	92.36	gold quality
cingulate cortex	UBERON:0003027	92.29	gold quality
primary visual cortex	UBERON:0002436	92.25	gold quality
ganglionic eminence	UBERON:0004023	92.18	gold quality
amygdala	UBERON:0001876	92.09	gold quality
corpus callosum	UBERON:0002336	91.95	gold quality
embryo	UBERON:0000922	91.71	gold quality
prefrontal cortex	UBERON:0000451	91.54	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	91.29	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.09	gold quality
cerebral cortex	UBERON:0000956	90.93	gold quality
frontal cortex	UBERON:0001870	90.86	gold quality
neocortex	UBERON:0001950	90.85	gold quality
middle temporal gyrus	UBERON:0002771	90.67	gold quality
occipital lobe	UBERON:0002021	90.66	gold quality
medulla oblongata	UBERON:0001896	90.50	gold quality
CA1 field of hippocampus	UBERON:0003881	90.43	gold quality
telencephalon	UBERON:0001893	90.28	gold quality
cranial nerve II	UBERON:0000941	90.15	gold quality
putamen	UBERON:0001874	90.05	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6911	no	238.39
E-ANND-3	no	3.43

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53, TP73

miRNA regulators (miRDB)

34 targeting PSRC1, 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-513A-5P	100.00	69.77	2465
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-140-5P	99.44	67.20	792
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-4460	99.37	68.52	615
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-193A-3P	98.59	66.36	769
HSA-MIR-193B-3P	98.59	66.62	748
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-4432	97.80	67.87	705

Literature-anchored findings (GeneRIF, showing 21)

• molecular cloning, sequence analysis and gene expression (PMID:12427559)
• Together our results show that hDDA3 is a p53- and DNA-damage down-regulated target that exhibits oncogenic characteristics. (PMID:18291097)
• DDA3 represents a new class of microtubule-destabilizing protein that controls spindle dynamics and mitotic progression by regulating microtubule depolymerases. (PMID:18411309)
• The novel CAD-associated locus in the vicinity of the PSRC1 and CELSR2 genes on chromosome 1 probably enhances CAD risk through an effect on plasma LDL cholesterol. (PMID:18649068)
• Together these results identify ASPP2 as a bona fide DDA3 interacting protein, and suggest that the ASPP2/DDA3 interaction may inhibit ASPP2 in stimulating the apoptotic signaling of p53. (PMID:18793611)
• The C-terminal domain confers its ability to associate with the mitotic spindle, while the regulatory N-terminal domain controls the microtubule-binding by the C-terminal domain and determines the cellular activity of the DDA3 protein. (PMID:19738423)
• the mitotic function of DDA3 is regulated by phosphorylation on the Ser225 residue. (PMID:20117088)
• MCAK and CENP-E are involved in DDA3-mediated chromosome congression. (PMID:21426902)
• kinases control the function of DDA3 in the cell cycle by regulating its microtubules-polymerizing/bundling activities through sequential phosphorylation. (PMID:21473853)
• Thus, the EB1-based function of DDA3 links MT dynamics to directional cell migration (PMID:23652583)
• PSRC1 in the cholesterol gene cluster shows a significant association with coronary artery disease and its single nucleotide polymorphism regulates plasma cholesterol levels. (PMID:24674750)
• DDA3 controls astral spindle formation and spindle positioning by targeting Cep290 to the centrosome. Depletion of Cep290 caused a reduction of the astral spindle, leading to misorientation of the mitotic spindle. (PMID:25998387)
• no association was found between the SNPs of rs599839, rs464218 and rs6698843 at the CELSR2-PSRC1-SORT1 and the risk of coronary artery disease or ischemic stroke (PMID:26464717)
• Thus, our findings identified a definite regulatory mechanism of the search and capture process for stable spindle attachment through cross-talk between spindle dynamics and KT composition mediated by DDA3 and Ska1. (PMID:26797278)
• Thus, ANKRD53 is recruited to the mitotic spindle by DDA3 and acts as a regulator of spindle dynamics and cytokinesis. (PMID:26820536)
• Mdp3 (also known as MAP7D3) forms a complex with DDA3 (also known as PSRC1) and controls spindle dynamics at the minus end of Microtubuless by inhibiting DDA3-mediated Kif2a recruitment to the spindle. (PMID:27284004)
• these data indicate that ASB7 plays a crucial role in regulating spindle dynamics and genome integrity by controlling the expression of DDA3. (PMID:27697924)
• the frequency of SNP rs599839 located in the 3’ UTR of the PSRC1 gene in patients with genetically confirmed diagnosis of heterozygous familial hypercholesterolemia was analyzed. It was found that there was no association between rs599839 alleles and coronary heart disease in the multivariate analysis. (PMID:29714125)
• Genetically programmed changes in transcription of the novel progranulin regulator. (PMID:32620998)
• Reciprocal regulation of Aurora kinase A and ATIP3 in the control of metaphase spindle length. (PMID:32789689)
• Association of the PSRC1 rs599839 Variant with Coronary Artery Disease in a Mexican Population. (PMID:32858814)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Psrc1	ENSMUSG00000068744
rattus_norvegicus	Psrc1	ENSRNOG00000020013

Paralogs (1): GTSE1 (ENSG00000075218)

Protein

Protein identifiers

Proline/serine-rich coiled-coil protein 1 — Q6PGN9 (reviewed: Q6PGN9)

All UniProt accessions (4): Q6PGN9, Q5T2Z0, Q5T2Z1, S4R3S8

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate, and for normal rate of chromosomal segregation during anaphase. Plays a role in the regulation of mitotic spindle dynamics. Increases the rate of turnover of microtubules on metaphase spindles, and contributes to the generation of normal tension across sister kinetochores. Recruits KIF2A and ANKRD53 to the mitotic spindle and spindle poles. May participate in p53/TP53-regulated growth suppression.

Subunit / interactions. Interacts with APC2. Interacts with KIF2A. Interacts with ANKRD53; recruits ANKRD53 to the spindle during mitosis.

Subcellular location. Cytoplasm. Cytoskeleton. Spindle. Spindle pole.

Tissue specificity. Widely expressed in adult and fetal tissues, with highest expression in the adult brain and fetal thymus. Not detected in adult skeletal muscle.

Post-translational modifications. Phosphorylated during mitosis.

Similarity. Belongs to the PSRC1 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6PGN9-1	C	yes
Q6PGN9-2	A
Q6PGN9-3	B
Q6PGN9-4	D

RefSeq proteins (14): NP_001005290, NP_001027462, NP_001337166, NP_001337167, NP_001337168, NP_001337169, NP_001337170, NP_001337171, NP_001350238, NP_001380931, NP_001380932, NP_001380933, NP_001380934, NP_116025 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026657	DDA3/GTSE-1	Family
IPR032768	GTSE1_N	Domain

Pfam: PF15259

UniProt features (32 total): modified residue 14, repeat 4, compositionally biased region 4, splice variant 4, region of interest 3, chain 1, sequence variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PGN9-F1	57.83	0.06

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 (14): 22, 47, 65, 70, 98, 122, 140, 145, 186, 190, 212, 215, 42, 45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 241 (showing top): GOBP_CHROMOSOME_ORGANIZATION, HORIUCHI_WTAP_TARGETS_DN, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GOBP_CHROMOSOME_LOCALIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, ONKEN_UVEAL_MELANOMA_UP

GO Biological Process (7): microtubule bundle formation (GO:0001578), mitotic metaphase chromosome alignment (GO:0007080), negative regulation of cell growth (GO:0030308), positive regulation of microtubule polymerization (GO:0031116), positive regulation of DNA-templated transcription (GO:0045893), cell division (GO:0051301), regulation of mitotic spindle organization (GO:0060236)

GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)

GO Cellular Component (9): spindle pole (GO:0000922), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), spindle (GO:0005819), cytosol (GO:0005829), microtubule cytoskeleton (GO:0015630), midbody (GO:0030496), cytoskeleton (GO:0005856), spindle microtubule (GO:0005876)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
spindle	2
intracellular membraneless organelle	2
microtubule cytoskeleton organization	1
mitotic sister chromatid segregation	1
mitotic cell cycle	1
metaphase chromosome alignment	1
mitotic cell cycle process	1
regulation of cell growth	1
cell growth	1
negative regulation of growth	1
negative regulation of cellular process	1
positive regulation of microtubule polymerization or depolymerization	1
regulation of microtubule polymerization	1
positive regulation of protein polymerization	1
microtubule polymerization	1
positive regulation of supramolecular fiber organization	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
cellular process	1
mitotic spindle organization	1
regulation of spindle organization	1
tubulin binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
cytoplasm	1
cytoskeleton	1
microtubule	1

Protein interactions and networks

STRING

1154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PSRC1	CELSR2	Q9HCU4	986
PSRC1	SORT1	Q99523	954
PSRC1	PCSK9	Q8NBP7	804
PSRC1	MYBPHL	A2RUH7	797
PSRC1	SORCS2	Q96PQ0	670
PSRC1	SORCS1	Q8WY21	669
PSRC1	SORCS3	Q9UPU3	669
PSRC1	KIF2A	O00139	648
PSRC1	SORL1	Q92673	640
PSRC1	MIA3	Q5JRA6	598
PSRC1	HMGCR	P04035	589
PSRC1	PHACTR1	Q9C0D0	574
PSRC1	APOA5	Q6Q788	554
PSRC1	CILP2	Q8IUL8	544
PSRC1	CEBPA	P49715	544

IntAct

10 interactions, top by confidence:

A	B	Type	Score
PSRC1	MAPRE3	psi-mi:“MI:0915”(physical association)	0.560
PSRC1	SF3A2	psi-mi:“MI:0915”(physical association)	0.400
PSRC1	PRMT2	psi-mi:“MI:0915”(physical association)	0.400
PSRC1	SRGN	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
MAPRE1	SCAMP1	psi-mi:“MI:0914”(association)	0.350
PSRC1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
MAPRE3	PSRC1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (62): PRMT2 (Affinity Capture-MS), PSRC1 (Reconstituted Complex), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-Western), ASB7 (Affinity Capture-Western)

ESM2 similar proteins: A2A7S8, A5D7K1, A5PK23, B1AXH1, F1QGH6, O94885, O95402, Q08495, Q08DM1, Q3T044, Q499V8, Q5HYW2, Q5PQP4, Q5R4B6, Q5R8Q8, Q5SYE7, Q5T0Z8, Q5U2R6, Q6PDH0, Q6PFX7, Q6PGN9, Q6ZVC0, Q7TT28, Q80U35, Q80VC9, Q80Z38, Q86UU1, Q86WR7, Q8BI29, Q8C5R2, Q8CAF4, Q8JZX9, Q8K4J6, Q8N1G1, Q8TF72, Q91Z58, Q969V6, Q96A73, Q9BW04, Q9D0P7

Diamond homologs: Q29RJ9, Q3KR66, Q6PGN9, Q9D0P7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CDK1	“down-regulates activity”	PSRC1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

833 predictions. Top by Δscore:

Variant	Effect	Δscore
1:109280489:AC:A	acceptor_loss	1.0000
1:109280490:C:CC	acceptor_gain	1.0000
1:109280490:C:CG	acceptor_loss	1.0000
1:109280493:C:CT	acceptor_gain	1.0000
1:109280494:A:AC	acceptor_gain	1.0000
1:109280494:A:C	acceptor_gain	1.0000
1:109280501:T:TC	acceptor_gain	1.0000
1:109280775:AC:A	donor_gain	1.0000
1:109280776:CC:C	donor_gain	1.0000
1:109280791:T:A	donor_gain	1.0000
1:109281135:A:AC	donor_gain	1.0000
1:109281136:C:CC	donor_gain	1.0000
1:109281136:CTGG:C	donor_gain	1.0000
1:109281249:CTC:C	acceptor_gain	1.0000
1:109281678:T:TA	donor_gain	1.0000
1:109282056:CACGG:C	acceptor_gain	1.0000
1:109282061:C:CC	acceptor_gain	1.0000
1:109282086:CA:C	acceptor_gain	1.0000
1:109282090:CCCA:C	acceptor_gain	1.0000
1:109282091:CCA:C	acceptor_gain	1.0000
1:109282092:CA:C	acceptor_gain	1.0000
1:109282093:A:C	acceptor_gain	1.0000
1:109280156:CCTAA:C	acceptor_loss	0.9900
1:109280391:CTGA:C	donor_loss	0.9900
1:109280392:TGA:T	donor_loss	0.9900
1:109280393:GA:G	donor_loss	0.9900
1:109280394:A:AG	donor_loss	0.9900
1:109280395:C:A	donor_loss	0.9900
1:109280421:T:A	donor_gain	0.9900
1:109280485:AGGAA:A	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000728297 (1:109285016 G>C), RS1001838245 (1:109283071 C>T), RS1001954216 (1:109282749 C>A,G,T), RS1002839747 (1:109284559 A>G), RS1002905550 (1:109283276 C>A,T), RS1003283775 (1:109283053 C>A,T), RS1003966781 (1:109283270 TG>T), RS1004103977 (1:109282976 C>T), RS1004251125 (1:109282347 C>T), RS1004848120 (1:109283645 G>A), RS1005305855 (1:109284090 C>T), RS1005669467 (1:109284745 A>G), RS1005756065 (1:109279358 C>A), RS1005761078 (1:109284481 C>T), RS1006260937 (1:109285112 G>A,C)

Disease associations

OMIM: gene MIM:613126 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

54 associations (top):

Study	Trait	p-value
GCST000057_1	Coronary heart disease	4.000000e-09
GCST000131_1	LDL cholesterol	1.000000e-07
GCST000132_7	LDL cholesterol	6.000000e-33
GCST000134_1	LDL cholesterol	3.000000e-29
GCST000151_1	LDL cholesterol	1.000000e-33
GCST000283_1	LDL cholesterol	2.000000e-12
GCST000287_7	LDL cholesterol	2.000000e-42
GCST000340_7	Myocardial infarction (early onset)	8.000000e-12
GCST000533_33	Lipid metabolism phenotypes	2.000000e-53
GCST000533_34	Lipid metabolism phenotypes	4.000000e-39
GCST000533_8	Lipid metabolism phenotypes	2.000000e-20
GCST000533_9	Lipid metabolism phenotypes	2.000000e-27
GCST000635_10	Response to statin therapy	4.000000e-06
GCST000671_1	Lipoprotein-associated phospholipase A2 activity and mass	3.000000e-15
GCST000759_23	LDL cholesterol	1.000000e-170
GCST000760_5	Cholesterol, total	6.000000e-131
GCST000911_1	Progranulin levels	2.000000e-30
GCST000975_10	LDL cholesterol	9.000000e-29
GCST000999_17	Coronary heart disease	6.000000e-10
GCST001233_13	Metabolite levels	2.000000e-19
GCST003877_1	Abdominal aortic aneurysm	7.000000e-09
GCST005109_1	Progranulin levels	6.000000e-50
GCST005194_33	Coronary artery disease	2.000000e-57
GCST005195_146	Coronary artery disease	4.000000e-58
GCST005196_185	Coronary artery disease	2.000000e-59
GCST006697_14	Parental longevity (combined parental attained age, Martingale residuals)	3.000000e-08
GCST006701_6	Parental longevity (father’s attained age)	4.000000e-09
GCST007442_2	Low density lipoprotein cholesterol levels	7.000000e-09
GCST007937_1	Medication use (salicylic acid and derivatives)	2.000000e-16
GCST009240_226	Serum metabolite levels (CMS)	7.000000e-13

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004529	lipid measurement
EFO:0004746	lipoprotein-associated phospholipase A(2) measurement
EFO:0004574	total cholesterol measurement
EFO:0004625	progranulin measurement
EFO:0007796	parental longevity
EFO:0007013	aspirin use measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0009762	healthspan
EFO:0006925	lipoprotein A measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs602633	CELSR2, PSRC1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	5
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	4
sodium arsenite	decreases expression, increases expression	3
Cyclosporine	decreases expression	3
Particulate Matter	decreases expression, increases abundance, affects cotreatment	3
bisphenol A	affects expression, decreases expression	2
perfluorooctanoic acid	increases expression, decreases expression	2
perfluorooctane sulfonic acid	decreases expression, increases expression	2
Resveratrol	affects cotreatment, increases expression, decreases expression	2
Zoledronic Acid	decreases expression	2
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Estradiol	decreases expression, increases expression	2
Quercetin	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Cadmium Chloride	decreases expression	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
cupric oxide	decreases expression	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	1
diallyl trisulfide	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2CJ	Abcam HeLa PSRC1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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