EPN1

Summary

EPN1 (epsin 1, HGNC:21604) is a protein-coding gene on chromosome 19q13.42, encoding Epsin-1 (Q9Y6I3). Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2).

This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types.

Source: NCBI Gene 29924 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 136 total
• Druggable target: yes
• MANE Select transcript: NM_001130072

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21604
Approved symbol	EPN1
Name	epsin 1
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000063245
Ensembl biotype	protein_coding
OMIM	607262
Entrez	29924

Gene structure

Transcript identifiers

Ensembl transcripts: 92 — 89 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000085079, ENST00000270460, ENST00000411543, ENST00000586194, ENST00000587937, ENST00000589704, ENST00000591743, ENST00000870063, ENST00000870064, ENST00000870065, ENST00000870066, ENST00000870067, ENST00000870068, ENST00000870069, ENST00000870070, ENST00000870071, ENST00000870072, ENST00000870073, ENST00000870074, ENST00000870075, ENST00000870076, ENST00000870077, ENST00000870078, ENST00000870079, ENST00000870080, ENST00000870081, ENST00000870082, ENST00000870083, ENST00000870084, ENST00000870085, ENST00000870086, ENST00000870087, ENST00000870088, ENST00000870089, ENST00000870090, ENST00000870091, ENST00000870092, ENST00000870093, ENST00000870094, ENST00000870095, ENST00000870096, ENST00000870097, ENST00000870098, ENST00000870099, ENST00000870100, ENST00000870101, ENST00000870102, ENST00000870103, ENST00000870104, ENST00000870105, ENST00000870106, ENST00000870107, ENST00000870108, ENST00000870109, ENST00000870110, ENST00000870111, ENST00000870112, ENST00000870113, ENST00000870114, ENST00000870115, ENST00000870116, ENST00000870117, ENST00000870118, ENST00000870119, ENST00000870120, ENST00000935736, ENST00000935737, ENST00000935738, ENST00000935739, ENST00000935740, ENST00000935741, ENST00000935742, ENST00000935743, ENST00000935744, ENST00000935745, ENST00000953604, ENST00000953605, ENST00000953606, ENST00000953607, ENST00000953608, ENST00000953609, ENST00000953610, ENST00000953611, ENST00000953612, ENST00000953613, ENST00000953614, ENST00000953615, ENST00000953616, ENST00000953617, ENST00000953618, ENST00000953619, ENST00000953620

RefSeq mRNA: 4 — MANE Select: NM_001130072 NM_001130071, NM_001130072, NM_001321263, NM_013333

CCDS: CCDS46198, CCDS46199, CCDS46200

Canonical transcript exons

ENST00000270460 — 11 exons

Exon	Start	End
ENSE00000728194	55689867	55689950
ENSE00000728198	55691754	55692057
ENSE00000728203	55692686	55692796
ENSE00001178639	55675226	55675435
ENSE00002877797	55695148	55709533
ENSE00003012173	55694726	55694983
ENSE00003135516	55692951	55693037
ENSE00003556430	55688870	55688994
ENSE00003578844	55678527	55678855
ENSE00003611406	55689297	55689371
ENSE00003685590	55685396	55685645

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 98.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 74.7762 / max 1011.4871, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177684	46.0419	1820
177685	28.1919	1809
208943	0.5165	274
177686	0.0258	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	98.70	gold quality
body of stomach	UBERON:0001161	98.29	gold quality
mucosa of transverse colon	UBERON:0004991	98.14	gold quality
right frontal lobe	UBERON:0002810	97.89	gold quality
right atrium auricular region	UBERON:0006631	97.84	gold quality
anterior cingulate cortex	UBERON:0009835	97.65	gold quality
cingulate cortex	UBERON:0003027	97.58	gold quality
left testis	UBERON:0004533	97.53	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.52	gold quality
right testis	UBERON:0004534	97.48	gold quality
metanephros cortex	UBERON:0010533	97.42	gold quality
body of pancreas	UBERON:0001150	97.25	gold quality
right lobe of liver	UBERON:0001114	97.20	gold quality
lower esophagus mucosa	UBERON:0035834	97.13	gold quality
right ovary	UBERON:0002118	97.07	gold quality
heart left ventricle	UBERON:0002084	97.02	gold quality
transverse colon	UBERON:0001157	97.00	gold quality
left ovary	UBERON:0002119	97.00	gold quality
gastrocnemius	UBERON:0001388	96.99	gold quality
left adrenal gland	UBERON:0001234	96.95	gold quality
cortical plate	UBERON:0005343	96.94	gold quality
left adrenal gland cortex	UBERON:0035825	96.94	gold quality
right adrenal gland	UBERON:0001233	96.91	gold quality
right adrenal gland cortex	UBERON:0035827	96.86	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.85	gold quality
nucleus accumbens	UBERON:0001882	96.83	gold quality
prefrontal cortex	UBERON:0000451	96.79	gold quality
stromal cell of endometrium	CL:0002255	96.77	gold quality
cardiac ventricle	UBERON:0002082	96.75	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.75	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting EPN1, 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-4481	100.00	66.42	1669
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-7703	97.64	67.00	965
HSA-MIR-296-5P	97.61	64.02	851
HSA-MIR-6515-5P	97.08	65.48	1219
HSA-MIR-874-5P	96.93	63.92	1014

Literature-anchored findings (GeneRIF, showing 10)

• An epsin 1 helix is inserted into one leaflet of the lipid bilayer, inducing curvature; on lipid monolayers epsin alone is sufficient to facilitate the formation of clathrin-coated invaginations (PMID:12353027)
• Together, these data provide evidence that CHIP functions to ubiquitylate the endocytic protein Epsin. (PMID:15694383)
• epsin 1 promotes endocytosis of the ubiquitinated EGF receptor (PMID:19054389)
• Results show that epsin 1, an endocytic adapter protein, regulates mitotic membrane morphology and spindle integrity in HeLa cells. (PMID:19704019)
• AP-2 and epsin-1 are both required to promote efficient internalization of activated PAR1 and recognize discrete receptor sorting signals (PMID:21965661)
• Epsins are required for Dishevelled stability and Wnt signalling activation in colon cancer development. (PMID:25871009)
• intrinsically disordered domains are highly potent drivers of membrane curvature (PMID:26204806)
• Data indicate that clathrin-mediated endocytosis of proto-oncogene protein erbB-3 (ErbB3) is depending on epsin-1. (PMID:26975582)
• Membrane-proximal domains ENTH of epsin domain can form a stable hexameric core in presence of phosphatidylinositol 4,5-bisphosphate (PIP2). (PMID:29362354)
• Cooperativity of membrane-protein and protein-protein interactions control membrane remodeling by epsin 1 and affects clathrin-mediated endocytosis. (PMID:32997199)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	epn1a	ENSDARG00000010411
danio_rerio	epn1b	ENSDARG00000079847
mus_musculus	Epn1	ENSMUSG00000035203
rattus_norvegicus	Epn1	ENSRNOG00000015753
drosophila_melanogaster	lqf	FBGN0028582
caenorhabditis_elegans		WBGENE00001329

Paralogs (5): EPN3 (ENSG00000049283), EPN2 (ENSG00000072134), CLINT1 (ENSG00000113282), MYCBPAP (ENSG00000136449), ENTHD1 (ENSG00000176177)

Protein

Protein identifiers

Epsin-1 — Q9Y6I3 (reviewed: Q9Y6I3)

Alternative names: EH domain-binding mitotic phosphoprotein, EPS-15-interacting protein 1

All UniProt accessions (2): Q9Y6I3, K7EMP4

UniProt curated annotations — full annotation on UniProt →

Function. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations. Regulates receptor-mediated endocytosis.

Subunit / interactions. Monomer. Binds clathrin, ZBTB16/ZNF145 and ITSN1. Binds ubiquitinated proteins. Binds AP2A1 and AP2A2. Interacts with RALBP1 in a complex also containing NUMB and TFAP2A during interphase and mitosis. Interacts with AP2B1. Interacts with UBQLN2. Interacts with REPS2; the interaction is direct. Interacts with EPS15; the interaction is direct. Interacts with ENTREP1.

Subcellular location. Cytoplasm. Cell membrane. Nucleus. Membrane. Clathrin-coated pit.

Post-translational modifications. Phosphorylated on serine and/or threonine residues in mitotic cells. Phosphorylation reduces interaction with REPS2, AP-2 and the membrane fraction. Depolarization of synaptosomes results in dephosphorylation. Ubiquitinated.

Domain organisation. The NPF repeat domain is involved in EPS15 binding. The DPW repeat domain is involved in AP2A2 and clathrin binding. The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction with the AP-2 complex subunit AP2B1.

Miscellaneous. May be due to a competing donor splice site.

Similarity. Belongs to the epsin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y6I3-2	1	yes
Q9Y6I3-1	2
Q9Y6I3-3	3

RefSeq proteins (4): NP_001123543, NP_001123544, NP_001308192, NP_037465 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003903	UIM_dom	Conserved_site
IPR008942	ENTH_VHS	Homologous_superfamily
IPR013809	ENTH	Domain

Pfam: PF01417

UniProt features (60 total): modified residue 12, repeat 11, helix 8, compositionally biased region 6, binding site 6, region of interest 5, domain 4, splice variant 3, mutagenesis site 3, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1KYD	X-RAY DIFFRACTION	2
1INZ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6I3-F1	65.87	0.29

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (6): 8; 11; 25; 30; 63; 73

Post-translational modifications (12): 382, 419, 420, 435, 447, 454, 460, 464, 470, 473, 494, 534

Mutagenesis-validated functional residues (3):

Position	Phenotype
382	abolishes phosphorylation by cdk1.
382	abolishes phosphorylation by cdk1 and reduces reps2 binding.
404	reduces interaction with ap2b1.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-182971	EGFR downregulation
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis

MSigDB gene sets: 141 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_VESICLE_MEDIATED_TRANSPORT, FOXO4_01, REACTOME_MEMBRANE_TRAFFICKING, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_SPROUTING_ANGIOGENESIS, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_SPROUTING_ANGIOGENESIS, GGAANCGGAANY_UNKNOWN, GOCC_COATED_VESICLE, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, HFH3_01, GOCC_VESICLE_COAT, GOBP_MULTI_MULTICELLULAR_ORGANISM_PROCESS

GO Biological Process (6): in utero embryonic development (GO:0001701), endocytosis (GO:0006897), Notch signaling pathway (GO:0007219), female pregnancy (GO:0007565), embryonic organ development (GO:0048568), negative regulation of sprouting angiogenesis (GO:1903671)

GO Molecular Function (5): phospholipid binding (GO:0005543), clathrin binding (GO:0030276), molecular sequestering activity (GO:0140313), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (8): nucleus (GO:0005634), endosome (GO:0005768), cytosol (GO:0005829), plasma membrane (GO:0005886), clathrin-coated pit (GO:0005905), clathrin vesicle coat (GO:0030125), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Signaling by EGFR	1
Clathrin-mediated endocytosis	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
endomembrane system	2
membrane	2
chordate embryonic development	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
cell surface receptor signaling pathway	1
multi-organism reproductive process	1
multi-multicellular organism process	1
embryo development	1
animal organ development	1
sprouting angiogenesis	1
negative regulation of angiogenesis	1
regulation of sprouting angiogenesis	1
lipid binding	1
protein binding	1
molecular_function	1
intracellular membrane-bounded organelle	1
cytoplasmic vesicle	1
cytoplasm	1
cell periphery	1
clathrin coat	1
vesicle coat	1
clathrin-coated vesicle membrane	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1351 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPN1	EPS15	P42566	980
EPN1	REPS2	Q8NFH8	853
EPN1	EPS15L1	Q9UBC2	819
EPN1	SNAP91	O60641	804
EPN1	AP2A1	O95782	803
EPN1	HIP1R	O75146	741
EPN1	ITSN1	Q15811	735
EPN1	CLTCL1	P53675	724
EPN1	RALBP1	Q15311	682
EPN1	ZBTB16	Q05516	622
EPN1	FCHO1	O14526	613
EPN1	CLTC	Q00610	591
EPN1	ITSN2	Q9NZM3	567
EPN1	AMPH	P49418	540
EPN1	DNM2	P50570	538

IntAct

78 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
EPN1	PHGDH	psi-mi:“MI:0914”(association)	0.710
PHGDH	EPN1	psi-mi:“MI:0915”(physical association)	0.710
ARRDC1	NEDD4	psi-mi:“MI:0914”(association)	0.640
EPS15	EPN1	psi-mi:“MI:0407”(direct interaction)	0.620
EPN1	EPS15	psi-mi:“MI:0407”(direct interaction)	0.620
EPN1	REPS2	psi-mi:“MI:0915”(physical association)	0.610
EPN1	REPS2	psi-mi:“MI:0407”(direct interaction)	0.610
EPN1	ENTREP1	psi-mi:“MI:0915”(physical association)	0.580
EPN1	ENTREP1	psi-mi:“MI:0403”(colocalization)	0.580
EPN1	ENTREP1	psi-mi:“MI:2364”(proximity)	0.580
EPN1	DAZAP2	psi-mi:“MI:0915”(physical association)	0.560
EPN1	PLEKHB2	psi-mi:“MI:0915”(physical association)	0.560
PLEKHB2	EPN1	psi-mi:“MI:0915”(physical association)	0.560
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
LDLRAD4	WWP2	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
TADA2B	SUPT3H	psi-mi:“MI:0914”(association)	0.530
SLC2A14	SLC2A3	psi-mi:“MI:0914”(association)	0.530
ENTREP3	NEDD4	psi-mi:“MI:0914”(association)	0.530
PLPPR2	METAP2	psi-mi:“MI:0914”(association)	0.530
TMEM171	B3GAT3	psi-mi:“MI:0914”(association)	0.530
VCAM1	PSMD11	psi-mi:“MI:0914”(association)	0.530
FLVCR2	EPN1	psi-mi:“MI:0915”(physical association)	0.400
EPN1	RNF11	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (190): FLT4 (Affinity Capture-Western), EPN1 (Two-hybrid), PLEKHB2 (Two-hybrid), EPN1 (Affinity Capture-RNA), EPN1 (Affinity Capture-RNA), EPN1 (Affinity Capture-Western), UBC (Reconstituted Complex), EPN1 (Reconstituted Complex), EPN1 (Biochemical Activity), EPN1 (Affinity Capture-MS), EPN1 (Affinity Capture-MS), EPN1 (Affinity Capture-MS), EPN1 (Affinity Capture-MS), EPN1 (Affinity Capture-MS), EPN1 (Affinity Capture-MS)

ESM2 similar proteins: A7Z035, O08719, O14964, O55012, O60641, O75061, O75553, O88339, O88797, O95208, P47160, P52594, P70429, P78813, P97318, P98078, P98082, Q05140, Q0V8S0, Q13492, Q14677, Q27974, Q2TA45, Q4KLH5, Q5EA00, Q5F413, Q5R896, Q61548, Q67YI9, Q6CHN0, Q7M6Y3, Q7TN29, Q80TZ3, Q80VP1, Q8CHU3, Q8CJH2, Q8IYB5, Q8K2K6, Q8L860, Q8WU79

Diamond homologs: A7Z035, O74423, O88339, O95208, P47160, P78813, Q05785, Q12518, Q14677, Q4V882, Q54EH1, Q67YI9, Q80VP1, Q8CHU3, Q8IYW4, Q8VY07, Q91W69, Q93YP4, Q99KN9, Q9H201, Q9Y6I3, Q9Z1Z3, Q07872

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
EPN1	down-regulates	EGFR	relocalization
“AP-2 complex”	“up-regulates activity”	EPN1	binding
EPN1	“up-regulates quantity by stabilization”	“AP-2/clathrin vescicle”	binding
CDK1	“down-regulates activity”	EPN1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 95 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
Cargo recognition for clathrin-mediated endocytosis	10	16.9×	6e-08
Clathrin-mediated endocytosis	12	16.5×	2e-09
Golgi Associated Vesicle Biogenesis	5	16.2×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
clathrin coat assembly	6	64.9×	2e-07
clathrin-dependent endocytosis	5	35.4×	6e-05
receptor internalization	6	23.7×	6e-05
endocytosis	7	8.1×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	104
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2571 predictions. Top by Δscore:

Variant	Effect	Δscore
19:55675434:AGG:A	donor_loss	1.0000
19:55675436:G:GA	donor_loss	1.0000
19:55685643:CGG:C	donor_gain	1.0000
19:55685643:CGGG:C	donor_loss	1.0000
19:55685644:GG:G	donor_gain	1.0000
19:55685644:GGG:G	donor_gain	1.0000
19:55685644:GGGTG:G	donor_loss	1.0000
19:55685645:GG:G	donor_gain	1.0000
19:55685645:GGTG:G	donor_loss	1.0000
19:55685646:G:GG	donor_gain	1.0000
19:55685647:T:G	donor_loss	1.0000
19:55688866:CCA:C	acceptor_loss	1.0000
19:55688867:CA:C	acceptor_loss	1.0000
19:55688868:A:AG	acceptor_gain	1.0000
19:55688868:AGCC:A	acceptor_loss	1.0000
19:55688869:G:GC	acceptor_gain	1.0000
19:55688869:GC:G	acceptor_gain	1.0000
19:55688869:GCC:G	acceptor_gain	1.0000
19:55688869:GCCT:G	acceptor_gain	1.0000
19:55688869:GCCTC:G	acceptor_gain	1.0000
19:55688980:G:GT	donor_gain	1.0000
19:55688983:G:GT	donor_gain	1.0000
19:55688990:ACCAG:A	donor_loss	1.0000
19:55688991:CCAG:C	donor_loss	1.0000
19:55688992:CAG:C	donor_loss	1.0000
19:55688993:AG:A	donor_loss	1.0000
19:55688994:GG:G	donor_loss	1.0000
19:55688995:GT:G	donor_loss	1.0000
19:55688996:T:A	donor_loss	1.0000
19:55689844:T:TA	acceptor_gain	1.0000

AlphaMissense

3684 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:55678649:C:A	R8S	1.000
19:55678660:G:C	K11N	1.000
19:55678660:G:T	K11N	1.000
19:55678662:A:T	N12I	1.000
19:55678663:C:A	N12K	1.000
19:55678663:C:G	N12K	1.000
19:55678668:T:A	V14D	1.000
19:55678690:G:C	E21D	1.000
19:55678690:G:T	E21D	1.000
19:55678697:G:T	V24F	1.000
19:55678698:T:A	V24D	1.000
19:55678700:C:G	R25G	1.000
19:55678701:G:C	R25P	1.000
19:55678706:G:C	A27P	1.000
19:55678707:C:A	A27D	1.000
19:55678710:C:A	T28K	1.000
19:55678710:C:G	T28R	1.000
19:55678712:A:C	S29R	1.000
19:55678713:G:T	S29I	1.000
19:55678714:C:A	S29R	1.000
19:55678714:C:G	S29R	1.000
19:55678716:A:T	N30I	1.000
19:55678717:T:A	N30K	1.000
19:55678717:T:G	N30K	1.000
19:55678718:G:C	D31H	1.000
19:55678719:A:G	D31G	1.000
19:55678719:A:T	D31V	1.000
19:55678724:T:A	W33R	1.000
19:55678724:T:C	W33R	1.000
19:55678726:G:C	W33C	1.000

dbSNP variants (sampled 300 via entrez): RS1000185464 (19:55699566 T>G), RS1000232015 (19:55706902 C>A,G,T), RS1000311243 (19:55703134 T>G), RS1000316040 (19:55681827 A>G), RS1000386636 (19:55674841 G>A), RS1000605800 (19:55691032 G>C), RS1000618920 (19:55691195 A>G,T), RS1000633558 (19:55704125 TC>T), RS1000680695 (19:55700702 T>C), RS1000729814 (19:55673982 G>C,T), RS1000772828 (19:55703348 A>C,G), RS1000880044 (19:55678376 G>A), RS1000880551 (19:55705919 A>C,T), RS1000882019 (19:55685962 AGG>A), RS1000900642 (19:55682842 T>C)

Disease associations

OMIM: gene MIM:607262 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001850_49	Major depressive disorder	6.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3259465 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	3
sodium arsenite	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	increases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
lead acetate	increases expression	1
decabromobiphenyl ether	decreases expression	1
beta-lapachone	decreases expression	1
tetrabromobisphenol A	decreases expression	1
ochratoxin A	decreases expression	1
cupric chloride	increases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
enzalutamide	affects expression	1
bisphenol S	increases expression	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	decreases expression	1
bisphenol AF	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Benztropine	decreases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3265618	Binding	Inhibition of C-terminal 6xHis-tagged epsin-1 ENTH domain (unknown origin) expressed in Escherichia coli BL21(DE3) RIL assessed as inhibition of interaction with PtdIns(4,5)P2 at 100 uM after 15 mins by SPR analysis relative to control	Elucidation of different inhibition mechanism of small chemicals on PtdInsP-binding domains using in silico docking experiments. — Bioorg Med Chem Lett

Cellosaurus cell lines

7 cell lines: 6 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1MF	Abcam K-562 EPN1 KO	Cancer cell line	Female
CVCL_D2J0	Abcam Raji EPN1 KO	Cancer cell line	Male
CVCL_D7PF	Ubigene A-549 EPN1 KO	Cancer cell line	Male
CVCL_D8KX	Ubigene HCT 116 EPN1 KO	Cancer cell line	Male
CVCL_D9ED	Ubigene HEK293 EPN1 KO	Transformed cell line	Female
CVCL_E0CP	Ubigene HeLa EPN1 KO	Cancer cell line	Female
CVCL_UQ47	Abcam Jurkat EPN1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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