EXOC3L1

Summary

EXOC3L1 (exocyst complex component 3 like 1, HGNC:27540) is a protein-coding gene on chromosome 16q22.1, encoding Exocyst complex component 3-like protein (Q86VI1). As part of the exocyst, may play a role in regulated exocytosis of insulin granules.

Predicted to enable SNARE binding activity. Predicted to be involved in exocyst localization; exocytosis; and peptide hormone secretion. Predicted to be located in secretory granule. Predicted to be part of exocyst.

Source: NCBI Gene 283849 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 140 total
• MANE Select transcript: NM_178516

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27540
Approved symbol	EXOC3L1
Name	exocyst complex component 3 like 1
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ35539, FLJ35587
Ensembl gene	ENSG00000179044
Ensembl biotype	protein_coding
OMIM	614117
Entrez	283849

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 18 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000314586, ENST00000545725, ENST00000562887, ENST00000563536, ENST00000563889, ENST00000564324, ENST00000564418, ENST00000855140, ENST00000855141, ENST00000855142, ENST00000855143, ENST00000855144, ENST00000925360, ENST00000925361, ENST00000925362, ENST00000951004, ENST00000951005, ENST00000951006, ENST00000951007, ENST00000951008, ENST00000951009

RefSeq mRNA: 1 — MANE Select: NM_178516 NM_178516

CCDS: CCDS10832

Canonical transcript exons

ENST00000314586 — 14 exons

Exon	Start	End
ENSE00001104737	67187225	67187837
ENSE00001343994	67188721	67188940
ENSE00002596056	67184379	67184604
ENSE00002611781	67189971	67190136
ENSE00003477937	67189020	67189180
ENSE00003484472	67185136	67185258
ENSE00003507801	67186557	67186657
ENSE00003556395	67187021	67187138
ENSE00003570798	67185361	67185490
ENSE00003625947	67186237	67186347
ENSE00003672145	67189631	67189683
ENSE00003674056	67184902	67185057
ENSE00003677089	67184686	67184810
ENSE00003683563	67186759	67186884

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 91.84.

FANTOM5 (CAGE): breadth broad, TPM avg 0.3367 / max 13.1101, expressed in 192 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157751	0.2425	141
157748	0.0761	37
157749	0.0182	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
spleen	UBERON:0002106	91.84	gold quality
right lung	UBERON:0002167	83.65	gold quality
right ovary	UBERON:0002118	82.46	gold quality
apex of heart	UBERON:0002098	81.62	gold quality
left ovary	UBERON:0002119	81.43	gold quality
right testis	UBERON:0004534	81.36	gold quality
right adrenal gland	UBERON:0001233	81.35	gold quality
upper lobe of left lung	UBERON:0008952	81.08	gold quality
right adrenal gland cortex	UBERON:0035827	80.79	gold quality
left testis	UBERON:0004533	80.73	gold quality
left adrenal gland cortex	UBERON:0035825	80.48	gold quality
left adrenal gland	UBERON:0001234	80.14	gold quality
right lobe of thyroid gland	UBERON:0001119	80.10	gold quality
adrenal cortex	UBERON:0001235	77.75	gold quality
left lobe of thyroid gland	UBERON:0001120	77.67	gold quality
upper lobe of lung	UBERON:0008948	77.67	gold quality
omental fat pad	UBERON:0010414	77.54	gold quality
peritoneum	UBERON:0002358	77.44	gold quality
testis	UBERON:0000473	77.05	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.43	gold quality
adrenal gland	UBERON:0002369	76.36	gold quality
thyroid gland	UBERON:0002046	76.16	gold quality
adipose tissue of abdominal region	UBERON:0007808	75.56	gold quality
monocyte	CL:0000576	75.43	gold quality
heart left ventricle	UBERON:0002084	75.05	gold quality
metanephros cortex	UBERON:0010533	75.02	gold quality
leukocyte	CL:0000738	74.85	gold quality
ovary	UBERON:0000992	74.08	gold quality
cardiac ventricle	UBERON:0002082	73.89	gold quality
adenohypophysis	UBERON:0002196	73.70	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.73

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• EXOC3L1 is strongly expressed in vascular endothelium and forms part of the exocyst complex, a key facilitator of the trafficking of lipid receptors (PMID:26199122)
• EXOC3L1: A Novel Prognostic Biomarker Correlated with Immune Infiltration in Esophageal Squamous Cell Carcinoma. (PMID:36852560)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	exoc3l1	ENSDARG00000051899
mus_musculus	Exoc3l	ENSMUSG00000043251
rattus_norvegicus	Exoc3l1	ENSRNOG00000015641

Paralogs (4): EXOC3 (ENSG00000180104), TNFAIP2 (ENSG00000185215), EXOC3L4 (ENSG00000205436), EXOC3L2 (ENSG00000283632)

Protein

Protein identifiers

Exocyst complex component 3-like protein — Q86VI1 (reviewed: Q86VI1)

Alternative names: Protein Jiangli

All UniProt accessions (5): Q86VI1, F5H4W1, H3BPA4, H3BRW6, H3BTH9

UniProt curated annotations — full annotation on UniProt →

Function. As part of the exocyst, may play a role in regulated exocytosis of insulin granules.

Subunit / interactions. Interacts with EXOC2, EXOC4 and EXOC5; may be part of the exocyst.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle.

Similarity. Belongs to the SEC6 family.

RefSeq proteins (1): NP_848611* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010326	EXOC3/Sec6	Family
IPR042532	EXOC3/Sec6_C	Homologous_superfamily

Pfam: PF06046

UniProt features (10 total): sequence variant 4, sequence conflict 3, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86VI1-F1	87.46	0.61

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 75 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, ACTACCT_MIR196A_MIR196B, chr16q22, CCAWYNNGAAR_UNKNOWN, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_HORMONE_LEVELS, GCAAGGA_MIR502, GOBP_HORMONE_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, CCATCCA_MIR432, GOBP_CELL_CELL_SIGNALING, GOBP_EXOCYTOSIS, GGAANCGGAANY_UNKNOWN, GOBP_SECRETION, GOBP_SIGNAL_RELEASE

GO Biological Process (3): exocytosis (GO:0006887), peptide hormone secretion (GO:0030072), exocyst localization (GO:0051601)

GO Molecular Function (2): SNARE binding (GO:0000149), protein binding (GO:0005515)

GO Cellular Component (4): exocyst (GO:0000145), transport vesicle (GO:0030133), secretory granule (GO:0030141), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endomembrane system	2
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
peptide secretion	1
hormone secretion	1
nitrogen compound transport	1
protein-containing complex localization	1
protein binding	1
binding	1
cell cortex	1
vesicle tethering complex	1
cytoplasmic vesicle	1
secretory vesicle	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

608 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXOC3L1	EXOC4	Q96A65	525
EXOC3L1	EXOC5	O00471	524
EXOC3L1	EXOC2	Q96KP1	519
EXOC3L1	MATCAP1	Q68EN5	479
EXOC3L1	EXOC7	Q9UPT5	453
EXOC3L1	EXOC3L4	Q17RC7	407
EXOC3L1	EXOC3L2	Q2M3D2	402
EXOC3L1	PITHD1	Q9GZP4	394
EXOC3L1	EFNA4	P52798	393
EXOC3L1	B3GNT9	Q6UX72	392
EXOC3L1	EFNA2	O43921	391
EXOC3L1	EXOC6	Q8TAG9	375
EXOC3L1	KCTD19	Q17RG1	374
EXOC3L1	Q8WV35	Q8WV35	373
EXOC3L1	ELMO3	Q96BJ8	372

IntAct

25 interactions, top by confidence:

A	B	Type	Score
EXOC3L1	TFIP11	psi-mi:“MI:0915”(physical association)	0.560
HGS	EXOC3L1	psi-mi:“MI:0915”(physical association)	0.560
MYOD1	EXOC3L1	psi-mi:“MI:0915”(physical association)	0.560
KRT27	EXOC3L1	psi-mi:“MI:0915”(physical association)	0.560
CEACAM6	EXOC3L1	psi-mi:“MI:0915”(physical association)	0.560
EXOC3L1	ARL14	psi-mi:“MI:0915”(physical association)	0.560
LDB2	EXOC3L1	psi-mi:“MI:0915”(physical association)	0.560
EXOC3L1	EXOC5	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
EXOC3L1	TFIP11	psi-mi:“MI:0915”(physical association)	0.000
HGS	EXOC3L1	psi-mi:“MI:0915”(physical association)	0.000
EXOC3L1	MYOD1	psi-mi:“MI:0915”(physical association)	0.000
EXOC3L1	KRT27	psi-mi:“MI:0915”(physical association)	0.000
EXOC3L1	CEACAM6	psi-mi:“MI:0915”(physical association)	0.000
EXOC3L1	ARL14	psi-mi:“MI:0915”(physical association)	0.000
EXOC3L1	LDB2	psi-mi:“MI:0915”(physical association)	0.000
EXOC3L1		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): EXOC3L1 (Two-hybrid), EXOC3L1 (Two-hybrid), EXOC3L1 (Two-hybrid), EXOC3L1 (Two-hybrid), EXOC3L1 (Two-hybrid), ARL14 (Two-hybrid), HGS (Two-hybrid), EXOC7 (Affinity Capture-MS), EXOC4 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), EXOC2 (Affinity Capture-MS), SASS6 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), EXOC1 (Affinity Capture-MS), EXOC5 (Affinity Capture-MS)

ESM2 similar proteins: A1IGU3, A1IGU4, A1IGU5, A2VDW6, A6QP75, A7E3N7, B2RUP2, C3VPR6, D3ZI76, Q0VCR8, Q14DK4, Q1LZ97, Q3MIN7, Q3TAA7, Q3UR97, Q4FZD7, Q53B87, Q53B88, Q5D0E6, Q60I26, Q60I27, Q61085, Q641Y9, Q69Z89, Q6NUI2, Q6P5Z2, Q6PFY1, Q6PJN8, Q70J99, Q86UR1, Q86VI1, Q86WN1, Q8BI71, Q8BTM9, Q8C0R7, Q8C190, Q8K045, Q8N1F8, Q8N9H8, Q8R5I4

Diamond homologs: A2AV37, O60645, Q0V8C2, Q0VCR8, Q62825, Q6KAR6, Q86VI1, Q8BI71, Q2M3D2, Q17RC7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	116
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2096 predictions. Top by Δscore:

Variant	Effect	Δscore
16:67184901:CCAAA:C	donor_gain	1.0000
16:67184905:A:C	donor_gain	1.0000
16:67185053:AGCAG:A	acceptor_gain	1.0000
16:67185054:GCAG:G	acceptor_gain	1.0000
16:67185055:CAG:C	acceptor_gain	1.0000
16:67185055:CAGC:C	acceptor_gain	1.0000
16:67185056:AG:A	acceptor_gain	1.0000
16:67185056:AGC:A	acceptor_loss	1.0000
16:67185057:GC:G	acceptor_loss	1.0000
16:67185058:C:CC	acceptor_gain	1.0000
16:67185356:CTCA:C	donor_loss	1.0000
16:67185358:CA:C	donor_loss	1.0000
16:67185359:ACCT:A	donor_loss	1.0000
16:67185360:C:CT	donor_loss	1.0000
16:67187017:TCACC:T	donor_loss	1.0000
16:67187018:CA:C	donor_loss	1.0000
16:67187019:A:AC	donor_gain	1.0000
16:67187019:ACCTG:A	donor_loss	1.0000
16:67187020:C:CC	donor_gain	1.0000
16:67187020:CCTGG:C	donor_gain	1.0000
16:67187134:CCTGC:C	acceptor_loss	1.0000
16:67187135:CTGC:C	acceptor_gain	1.0000
16:67187137:GC:G	acceptor_gain	1.0000
16:67187137:GCCTG:G	acceptor_loss	1.0000
16:67187138:CC:C	acceptor_gain	1.0000
16:67187139:C:CC	acceptor_gain	1.0000
16:67187140:T:A	acceptor_loss	1.0000
16:67187838:C:CC	acceptor_gain	1.0000
16:67188937:CTGA:C	acceptor_gain	1.0000
16:67188938:TGA:T	acceptor_gain	1.0000

AlphaMissense

4683 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:67184697:A:C	F673L	0.980
16:67184697:A:T	F673L	0.980
16:67184699:A:G	F673L	0.980
16:67185228:A:G	W553R	0.973
16:67185228:A:T	W553R	0.973
16:67185226:C:A	W553C	0.972
16:67185226:C:G	W553C	0.972
16:67184478:G:C	F719L	0.969
16:67184478:G:T	F719L	0.969
16:67184480:A:G	F719L	0.969
16:67187247:A:G	W340R	0.966
16:67187247:A:T	W340R	0.966
16:67189122:C:A	K35N	0.966
16:67189122:C:G	K35N	0.966
16:67186831:C:A	W404C	0.964
16:67186831:C:G	W404C	0.964
16:67189119:C:A	W36C	0.964
16:67189119:C:G	W36C	0.964
16:67189141:G:T	A29D	0.962
16:67184689:A:T	V676E	0.957
16:67185018:A:C	Y597D	0.956
16:67189104:G:C	F41L	0.956
16:67189104:G:T	F41L	0.956
16:67189106:A:G	F41L	0.956
16:67184936:T:A	D624V	0.955
16:67184573:G:T	R688S	0.954
16:67186833:A:G	W404R	0.954
16:67186833:A:T	W404R	0.954
16:67187245:C:A	W340C	0.953
16:67187245:C:G	W340C	0.953

dbSNP variants (sampled 300 via entrez): RS1001789917 (16:67184220 A>C,G), RS1002312187 (16:67192088 A>G,T), RS1003554183 (16:67189356 A>G), RS1005516923 (16:67186447 C>T), RS1005617547 (16:67184136 C>T), RS1005653728 (16:67183958 A>C,G,T), RS1005754673 (16:67183968 T>C), RS1005767250 (16:67189363 G>A), RS1006068468 (16:67187725 C>A,G), RS1006096971 (16:67188341 C>T), RS1007143338 (16:67184212 G>A,C,T), RS1007501974 (16:67184376 G>A), RS1008563482 (16:67185395 C>A), RS1010190125 (16:67185709 C>A,G,T), RS1010224340 (16:67185990 T>C)

Disease associations

OMIM: gene MIM:614117 | 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
GCST010083_159	Hemoglobin levels	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sotorasib	affects cotreatment, increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
sodium arsenite	increases expression	1
ferrous chloride	decreases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Valproic Acid	increases methylation	1
1-Methyl-4-phenylpyridinium	increases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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