EXOC1

Summary

EXOC1 (exocyst complex component 1, HGNC:30380) is a protein-coding gene on chromosome 4q12, encoding Exocyst complex component 1 (Q9NV70). Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. It is a selective cancer dependency (DepMap: 50.9% of cell lines).

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Source: NCBI Gene 55763 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 109 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 50.9% of screened cell lines
• MANE Select transcript: NM_001024924

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30380
Approved symbol	EXOC1
Name	exocyst complex component 1
Location	4q12
Locus type	gene with protein product
Status	Approved
Aliases	SEC3, FLJ10893, BM-102, Sec3p
Ensembl gene	ENSG00000090989
Ensembl biotype	protein_coding
OMIM	607879
Entrez	55763

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 30 protein_coding, 5 retained_intron

ENST00000346134, ENST00000349598, ENST00000381295, ENST00000504321, ENST00000505501, ENST00000506936, ENST00000509302, ENST00000511971, ENST00000892247, ENST00000892248, ENST00000892249, ENST00000892250, ENST00000892251, ENST00000892252, ENST00000892253, ENST00000892254, ENST00000892255, ENST00000892256, ENST00000892257, ENST00000923595, ENST00000970253, ENST00000970254, ENST00000970255, ENST00000970256, ENST00000970257, ENST00000970258, ENST00000970259, ENST00000970260, ENST00000970261, ENST00000970262, ENST00000970263, ENST00000970264, ENST00000970265, ENST00000970266, ENST00000970267

RefSeq mRNA: 3 — MANE Select: NM_001024924 NM_001024924, NM_018261, NM_178237

CCDS: CCDS3502, CCDS3503

Canonical transcript exons

ENST00000381295 — 19 exons

Exon	Start	End
ENSE00000580257	55871849	55871958
ENSE00000716639	55871101	55871233
ENSE00000716641	55870678	55870905
ENSE00001147689	55877917	55878066
ENSE00001147716	55868336	55868523
ENSE00001171598	55858314	55858447
ENSE00001218275	55883823	55883928
ENSE00001488148	55853648	55853953
ENSE00002078803	55904343	55905086
ENSE00003459733	55860411	55860541
ENSE00003482131	55899685	55899884
ENSE00003489133	55892635	55892711
ENSE00003500126	55891315	55891422
ENSE00003567476	55893552	55893780
ENSE00003568263	55864227	55864386
ENSE00003628258	55896717	55896900
ENSE00003657855	55888888	55888932
ENSE00003664273	55902344	55902538
ENSE00003664824	55890223	55890386

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 96.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.0020 / max 272.7187, expressed in 1810 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47703	29.0020	1810

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gingival epithelium	UBERON:0001949	96.78	gold quality
gingiva	UBERON:0001828	96.28	gold quality
esophagus squamous epithelium	UBERON:0006920	96.14	gold quality
upper leg skin	UBERON:0004262	96.06	gold quality
skin of hip	UBERON:0001554	95.95	gold quality
oral cavity	UBERON:0000167	95.74	gold quality
calcaneal tendon	UBERON:0003701	95.57	gold quality
tongue squamous epithelium	UBERON:0006919	95.31	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.19	gold quality
colonic mucosa	UBERON:0000317	95.08	gold quality
parietal pleura	UBERON:0002400	94.95	gold quality
pleura	UBERON:0000977	94.89	gold quality
visceral pleura	UBERON:0002401	94.88	gold quality
squamous epithelium	UBERON:0006914	94.72	gold quality
inferior olivary complex	UBERON:0002127	94.71	gold quality
germinal epithelium of ovary	UBERON:0001304	94.58	gold quality
epithelium of esophagus	UBERON:0001976	94.58	gold quality
corpus callosum	UBERON:0002336	94.31	gold quality
palpebral conjunctiva	UBERON:0001812	94.14	gold quality
jejunal mucosa	UBERON:0000399	93.94	gold quality
mammalian vulva	UBERON:0000997	93.73	gold quality
dorsal root ganglion	UBERON:0000044	93.70	gold quality
caput epididymis	UBERON:0004358	93.70	gold quality
corpus epididymis	UBERON:0004359	93.66	gold quality
choroid plexus epithelium	UBERON:0003911	93.34	gold quality
tibia	UBERON:0000979	93.28	gold quality
right uterine tube	UBERON:0001302	93.28	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.18	gold quality
epithelium of nasopharynx	UBERON:0001951	93.12	gold quality
esophagus mucosa	UBERON:0002469	93.04	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.40
E-CURD-10	no	629.72
E-MTAB-6386	no	350.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting EXOC1, 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-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-627-3P	99.90	71.42	3316
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-6073	99.60	70.36	793

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 50.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• The exocyst subunits Sec3 and Sec8 interact with the polarity protein IQGAP1 and that this interaction is triggered by active Cdc42 and RhoA, which are essential for matrix degradation. (PMID:18541705)
• This study identified human Sec3 exocyst protein (hSec3p) as a novel interacting partner of West Nile virus and Dengue virus C protein. (PMID:19889084)
• Sec3 associates with a subset of Exocyst complexes that are enriched at desmosomes. (PMID:19889837)
• This study portrayed the non-structural function of C protein that helped the flavivirus to nullify the antiviral activity of hSec3p by accelerating its degradation and facilitating efficient binding of elongation factor 1alpha with flaviviral RNA genome. (PMID:23522008)
• rs13117307 is associated with cervical squamous cell carcinoma. rs13117307 SNP upregulated EXCO1 transcript levels in the non-cancerous cervical and in the cervical SCC tissue. (PMID:28694212)
• study provides evidence that Sec3 is involved in TGF-beta induced cell migration and epithelial-mesenchymal transition processes, presumably through the regulation of PI3K/Akt signaling activation in A549 cancer cells (PMID:31495494)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	exoc1	ENSDARG00000043019
mus_musculus	Exoc1	ENSMUSG00000036435
rattus_norvegicus	Exoc1	ENSRNOG00000002144
drosophila_melanogaster	Sec3	FBGN0266669
caenorhabditis_elegans		WBGENE00018703

Paralogs (2): STXBP6 (ENSG00000168952), EXOC1L (ENSG00000250821)

Protein

Protein identifiers

Exocyst complex component 1 — Q9NV70 (reviewed: Q9NV70)

Alternative names: Exocyst complex component Sec3

All UniProt accessions (1): Q9NV70

UniProt curated annotations — full annotation on UniProt →

Function. Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. (Microbial infection) Has an antiviral effect against flaviviruses by affecting viral RNA transcription and translation through the sequestration of elongation factor 1-alpha (EEF1A1). This results in decreased viral RNA synthesis and decreased viral protein translation.

Subunit / interactions. The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8. Interacts with EEF1A1. Interacts with SLC6A9; interaction increases the transporter capacity of SLC6A9 probably by promoting its insertion into the cell membrane. (Microbial infection) Interacts with West Nile virus and Dengue virus capsid protein C; this interaction results in EXOC1 degradation through the proteasome degradation pathway.

Subcellular location. Midbody. Midbody ring. Cytoplasm. Perinuclear region. Cell membrane.

Similarity. Belongs to the SEC3 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NV70-1	1	yes
Q9NV70-2	2

RefSeq proteins (3): NP_001020095, NP_060731, NP_839955 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019160	Sec3_CC	Domain
IPR028258	Sec3-PIP2_bind	Domain
IPR048628	Sec3_C	Domain

Pfam: PF09763, PF15277, PF20654

UniProt features (16 total): modified residue 5, sequence conflict 3, coiled-coil region 2, compositionally biased region 2, initiator methionine 1, chain 1, splice variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NV70-F1	80.59	0.39

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 (5): 487, 501, 470, 471, 473

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-264876	Insulin processing
R-HSA-5620916	VxPx cargo-targeting to cilium
R-HSA-9920588	Dengue virus activates/modulates innate and adaptive immune responses

MSigDB gene sets: 154 (showing top): GOBP_MITOTIC_CYTOKINESIS, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_VESICLE_LOCALIZATION, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_MACROAUTOPHAGY, GOBP_MEMBRANE_DOCKING, GOBP_EXOCYTOSIS, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT, GOBP_VESICLE_DOCKING_INVOLVED_IN_EXOCYTOSIS, WANG_LMO4_TARGETS_DN, GOBP_CYTOKINESIS, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_SECRETION

GO Biological Process (9): mitotic cytokinesis (GO:0000281), exocytosis (GO:0006887), Golgi to plasma membrane transport (GO:0006893), obsolete vesicle docking involved in exocytosis (GO:0006904), protein transport (GO:0015031), regulation of macroautophagy (GO:0016241), defense response to virus (GO:0051607), membrane fission (GO:0090148), obsolete vesicle tethering involved in exocytosis (GO:0090522)

GO Molecular Function (2): phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), protein binding (GO:0005515)

GO Cellular Component (7): exocyst (GO:0000145), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), Flemming body (GO:0090543)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Membrane Trafficking	1
Peptide hormone metabolism	1
Cargo trafficking to the periciliary membrane	1
Dengue Virus-Host Interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoplasm	2
mitotic cell cycle	1
cytoskeleton-dependent cytokinesis	1
mitotic cell cycle process	1
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
post-Golgi vesicle-mediated transport	1
vesicle-mediated transport to the plasma membrane	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
regulation of autophagy	1
macroautophagy	1
defense response	1
response to virus	1
membrane organization	1
phosphatidylinositol phosphate binding	1
phosphatidylinositol bisphosphate binding	1
binding	1
cell cortex	1
vesicle tethering complex	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
midbody	1

Protein interactions and networks

STRING

1546 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXOC1	EXOC2	Q96KP1	999
EXOC1	EXOC4	Q96A65	999
EXOC1	EXOC6	Q8TAG9	999
EXOC1	EXOC7	Q9UPT5	999
EXOC1	EXOC8	Q8IYI6	999
EXOC1	EXOC5	O00471	999
EXOC1	EXOC3	O60645	999
EXOC1	CDC42	P21181	990
EXOC1	IQGAP1	P46940	960
EXOC1	RALA	P11233	847
EXOC1	VPS52	Q8N1B4	715
EXOC1	FUT2	Q10981	700
EXOC1	SNAP25	P13795	698
EXOC1	COG3	Q96JB2	679
EXOC1	COG6	Q9Y2V7	623

IntAct

207 interactions, top by confidence:

A	B	Type	Score
IQCB1	CEP290	psi-mi:“MI:0914”(association)	0.950
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
EXOC1	EXOC4	psi-mi:“MI:0407”(direct interaction)	0.890
EXOC1	EXOC2	psi-mi:“MI:0407”(direct interaction)	0.880
EXOC1	EXOC2	psi-mi:“MI:0915”(physical association)	0.880
EXOC2	EXOC1	psi-mi:“MI:0915”(physical association)	0.880
EXOC6	EXOC5	psi-mi:“MI:0914”(association)	0.840
EXOC2	EXOC3	psi-mi:“MI:0914”(association)	0.790
EXOC6B	EXOC5	psi-mi:“MI:0914”(association)	0.790
EXOC3	EXOC5	psi-mi:“MI:0914”(association)	0.790
NUP54	EXOC1	psi-mi:“MI:0915”(physical association)	0.740
FAM9C	SNAP29	psi-mi:“MI:0914”(association)	0.740
EXOC1	EXOC5	psi-mi:“MI:0914”(association)	0.730
EXOC8	EXOC5	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
FAM9C	NDC80	psi-mi:“MI:0914”(association)	0.670
GYPA	TCAF2	psi-mi:“MI:0914”(association)	0.640
IFT57	IFT56	psi-mi:“MI:0914”(association)	0.640
EXOC1	ATF4	psi-mi:“MI:0915”(physical association)	0.560
ATF4	EXOC1	psi-mi:“MI:0915”(physical association)	0.560
CCHCR1	EXOC1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (260): EXOC1 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS), EXOC2 (Co-fractionation), EXOC3 (Co-fractionation), EXOC4 (Co-fractionation), EXOC1 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS)

ESM2 similar proteins: A2A432, A6H5Z3, A9X1D0, B0VX69, B1MTJ4, B2KI88, B5FW36, C1FXW2, E2R766, E2RBS6, F1LSG8, O43242, O54923, O55047, O70133, P60762, Q13098, Q13619, Q13620, Q29425, Q2KJ46, Q3TCH7, Q4V860, Q5NVP9, Q5R5J4, Q5RAN1, Q5RB36, Q5VIR6, Q5ZKV9, Q5ZLD7, Q5ZML9, Q6AYU1, Q6NRT5, Q6NZH6, Q86TU7, Q8CCB4, Q8CI71, Q8K4Q0, Q8N122, Q8R3S6

Diamond homologs: A0A1B0GW35, B9EK06, Q8R3S6, Q9NV70, Q20678, Q9VVG4, Q2YDL1, Q8NFX7, Q8R3T5, Q5DQR4, Q9Y2K9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
EXOC1	“form complex”	“Exocyst_EXOC6B variant”	binding
EXOC1	“form complex”	“Exocyst_EXOC6 variant”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 171 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
VxPx cargo-targeting to cilium	8	40.7×	7e-09
Insulin processing	8	35.8×	1e-08
Translocation of SLC2A4 (GLUT4) to the plasma membrane	9	13.6×	4e-06
Membrane Trafficking	12	4.4×	4e-03
Vesicle-mediated transport	12	4.1×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle docking involved in exocytosis	10	44.1×	4e-12
Golgi to plasma membrane transport	7	25.7×	1e-06
anterograde axonal transport	6	22.8×	2e-05
membrane fission	8	21.5×	6e-07
mitotic cytokinesis	9	15.2×	1e-06
exocytosis	13	12.9×	7e-09
cilium assembly	14	6.7×	2e-06
protein transport	18	5.2×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	85
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3147 predictions. Top by Δscore:

Variant	Effect	Δscore
4:55860409:A:AG	acceptor_gain	1.0000
4:55860410:G:GG	acceptor_gain	1.0000
4:55860542:G:GG	donor_gain	1.0000
4:55864220:A:AG	acceptor_gain	1.0000
4:55864221:TTTTA:T	acceptor_loss	1.0000
4:55864222:TTTA:T	acceptor_loss	1.0000
4:55864223:TTAG:T	acceptor_loss	1.0000
4:55864224:TAGGA:T	acceptor_loss	1.0000
4:55864225:A:AG	acceptor_gain	1.0000
4:55864225:AG:A	acceptor_gain	1.0000
4:55864226:G:A	acceptor_loss	1.0000
4:55864226:G:GT	acceptor_gain	1.0000
4:55864226:GG:G	acceptor_gain	1.0000
4:55864226:GGA:G	acceptor_gain	1.0000
4:55864226:GGAA:G	acceptor_gain	1.0000
4:55864226:GGAAA:G	acceptor_gain	1.0000
4:55864343:G:GT	donor_gain	1.0000
4:55864384:A:T	donor_gain	1.0000
4:55864384:AAG:A	donor_loss	1.0000
4:55864387:G:GA	donor_loss	1.0000
4:55866855:T:G	acceptor_gain	1.0000
4:55868325:A:AG	acceptor_gain	1.0000
4:55868333:A:AG	acceptor_gain	1.0000
4:55868333:AAG:A	acceptor_loss	1.0000
4:55868334:A:G	acceptor_gain	1.0000
4:55868334:AG:A	acceptor_loss	1.0000
4:55868335:G:GG	acceptor_gain	1.0000
4:55868335:GA:G	acceptor_gain	1.0000
4:55868335:GAA:G	acceptor_gain	1.0000
4:55868335:GAAT:G	acceptor_gain	1.0000

AlphaMissense

5976 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:55858400:T:A	V26D	1.000
4:55858438:T:C	C39R	1.000
4:55858440:T:G	C39W	1.000
4:55864269:T:A	W100R	1.000
4:55864269:T:C	W100R	1.000
4:55864276:C:A	A102D	1.000
4:55868507:T:C	L196P	1.000
4:55870880:T:C	L269P	1.000
4:55871138:T:A	L290H	1.000
4:55871138:T:C	L290P	1.000
4:55871201:T:C	L311P	1.000
4:55871936:T:C	L351P	1.000
4:55878022:T:A	W394R	1.000
4:55878022:T:C	W394R	1.000
4:55878026:T:C	L395P	1.000
4:55891369:T:C	F532L	1.000
4:55891371:C:A	F532L	1.000
4:55891371:C:G	F532L	1.000
4:55893608:T:C	L594P	1.000
4:55893759:A:C	K644N	1.000
4:55893759:A:T	K644N	1.000
4:55899743:C:A	N732K	1.000
4:55899743:C:G	N732K	1.000
4:55902432:T:C	L809P	1.000
4:55904349:T:A	W847R	1.000
4:55904349:T:C	W847R	1.000
4:55858346:T:C	L8S	0.999
4:55858436:T:C	L38S	0.999
4:55858439:G:A	C39Y	0.999
4:55858442:C:A	A40D	0.999

dbSNP variants (sampled 300 via entrez): RS1000012643 (4:55894223 G>A), RS1000107285 (4:55873900 G>A), RS1000138796 (4:55901739 A>C), RS1000237520 (4:55905555 G>A,C,T), RS1000294258 (4:55895801 A>G), RS1000349375 (4:55881526 C>T), RS1000358750 (4:55853818 G>C), RS1000399563 (4:55889015 A>G), RS1000452086 (4:55888631 G>A), RS1000552518 (4:55873523 T>C), RS1000572866 (4:55861263 T>C), RS1000620322 (4:55869846 G>A), RS1000629925 (4:55883458 T>G), RS1000639365 (4:55859720 T>C), RS1000668953 (4:55856694 T>C)

Disease associations

OMIM: gene MIM:607879 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002082_1	Cervical cancer	3.000000e-10
GCST003518_83	Daytime sleep phenotypes	6.000000e-06
GCST004070_5	Cerebrospinal P-tau181p levels	8.000000e-06
GCST005962_39	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	2.000000e-06
GCST010307_3	Urinary albumin excretion	7.000000e-10

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0004763	p-tau measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004285	albuminuria

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067276 (SINGLE PROTEIN)

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
7.95	Kd	11.15	nM	CHEMBL3752910
7.95	ED50	11.15	nM	CHEMBL3752910
7.10	Kd	79.37	nM	CHEMBL5653589
7.10	ED50	79.37	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148348: Binding affinity to human EXOC1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0112	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148348: Binding affinity to human EXOC1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0794	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
bisphenol A	decreases methylation	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
K 7174	increases expression	1
ICG 001	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
Resveratrol	increases expression, affects cotreatment	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Benzene	increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Dinitrochlorobenzene	affects binding	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Valproic Acid	decreases methylation	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651390	Binding	Binding affinity to human EXOC1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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