EXOC1L

Summary

EXOC1L (exocyst complex component 1 like, HGNC:53433) is a protein-coding gene on chromosome 4q12, encoding Exocyst complex component 1-like (A0A1B0GW35).

At a glance

• MANE Select transcript: NM_001351574

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53433
Approved symbol	EXOC1L
Name	exocyst complex component 1 like
Location	4q12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000250821
Ensembl biotype	protein_coding
Entrez	644145

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 nonsense_mediated_decay, 1 protein_coding

ENST00000504250, ENST00000636125

RefSeq mRNA: 2 — MANE Select: NM_001351574 NM_001351574, NM_001351575

CCDS: CCDS87223

Canonical transcript exons

ENST00000636125 — 3 exons

Exon	Start	End
ENSE00003793080	55837085	55837489
ENSE00003796353	55831334	55831464
ENSE00003799335	55819790	55820147

Expression profiles

Bgee: expression breadth broad, 52 present calls, max score 48.72.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
caudate nucleus	UBERON:0001873	48.72	gold quality
adrenal tissue	UBERON:0018303	48.19	gold quality
putamen	UBERON:0001874	46.63	gold quality
nucleus accumbens	UBERON:0001882	44.56	gold quality
hypothalamus	UBERON:0001898	43.78	gold quality
prefrontal cortex	UBERON:0000451	42.14	gold quality
colonic epithelium	UBERON:0000397	41.31	gold quality
bone marrow cell	CL:0002092	41.16	gold quality
right testis	UBERON:0004534	39.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	39.48	gold quality
anterior cingulate cortex	UBERON:0009835	38.92	gold quality
omental fat pad	UBERON:0010414	38.36	gold quality
left testis	UBERON:0004533	38.34	gold quality
testis	UBERON:0000473	37.79	gold quality
hindlimb stylopod muscle	UBERON:0004252	37.59	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	37.48	gold quality
substantia nigra	UBERON:0002038	37.18	gold quality
amygdala	UBERON:0001876	36.78	gold quality
temporal lobe	UBERON:0001871	36.70	gold quality
frontal cortex	UBERON:0001870	36.62	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
brain	UBERON:0000955	36.26	gold quality
pituitary gland	UBERON:0000007	35.52	silver quality
cerebral cortex	UBERON:0000956	35.49	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
Ammon’s horn	UBERON:0001954	34.43	gold quality
bone marrow	UBERON:0002371	34.30	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
adipose tissue	UBERON:0001013	33.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.46

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	exoc1l	ENSDARG00000070320
mus_musculus	Exoc1l	ENSMUSG00000091204
rattus_norvegicus	Exoc1l	ENSRNOG00000050100
drosophila_melanogaster	Sec3	FBGN0266669
caenorhabditis_elegans		WBGENE00018703

Paralogs (2): EXOC1 (ENSG00000090989), STXBP6 (ENSG00000168952)

Protein

Protein identifiers

Exocyst complex component 1-like — A0A1B0GW35 (reviewed: A0A1B0GW35)

All UniProt accessions (2): A0A1B0GW35, A0A1B0GV28

RefSeq proteins (2): NP_001338503, NP_001338504 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028258	Sec3-PIP2_bind	Domain

Pfam: PF15277

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GW35-F1	89.19	0.73

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): chr4q12, ZNF563_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

534 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXOC1L	OSBPL1A	Q9BXW6	507
EXOC1L	HSD17B13	Q7Z5P4	407
EXOC1L	FXYD6	Q9H0Q3	401
EXOC1L	A0A087WZ82	A0A087WZ82	401
EXOC1L	LNP1	A1A4G5	397
EXOC1L	TDRD1	Q9BXT4	387
EXOC1L	HTR1F	P30939	385
EXOC1L	RARRES1	P49788	379
EXOC1L	IQSEC2	Q5JU85	376
EXOC1L	IL31RA	Q8NI17	365
EXOC1L	C9J5N1	C9J5N1	351
EXOC1L	EXOC2	Q96KP1	349
EXOC1L	EXOC4	Q96A65	349
EXOC1L	EXOC7	Q9UPT5	349
EXOC1L	EXOC8	Q8IYI6	349
EXOC1L	EXOC5	O00471	349

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GW35, A6QNM3, B0R034, B1ANS9, B9EK06, D2KC46, D3ZY60, F1MS15, F1P065, F1REV3, O00522, O15091, O75747, P10911, P58069, Q008S8, Q14449, Q14D04, Q15283, Q32NR9, Q45GW3, Q4R366, Q4R6T7, Q5H9U9, Q5K651, Q5PQS3, Q5XGX5, Q5XIZ9, Q5ZLD2, Q60862, Q63713, Q69Z37, Q6DCF6, Q6S5J6, Q6TNJ1, Q75PQ8, Q80W71, Q86VD1, Q86YR7, Q8C5W4

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1145 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:55831448:G:A	G79E	0.999
4:55837153:A:C	K107N	0.999
4:55837153:A:T	K107N	0.999
4:55837167:G:C	R112P	0.999
4:55820138:T:C	C38R	0.998
4:55820140:T:G	C38W	0.998
4:55831433:T:C	L74P	0.998
4:55831447:G:A	G79R	0.998
4:55831447:G:C	G79R	0.998
4:55831448:G:T	G79V	0.998
4:55837151:A:G	K107E	0.998
4:55837152:A:T	K107I	0.998
4:55831417:T:A	W69R	0.997
4:55831417:T:C	W69R	0.997
4:55831433:T:A	L74Q	0.997
4:55837098:T:C	F89S	0.997
4:55837104:T:C	L91P	0.997
4:55837134:C:A	A101E	0.997
4:55837139:A:C	S103R	0.997
4:55837141:C:A	S103R	0.997
4:55837141:C:G	S103R	0.997
4:55820136:T:C	L37P	0.996
4:55831433:T:G	L74R	0.996
4:55837164:C:A	A111D	0.996
4:55837224:T:C	F131S	0.996
4:55837298:T:C	C156R	0.996
4:55820139:G:A	C38Y	0.995
4:55831442:T:A	I77N	0.995
4:55837085:G:C	D85H	0.995
4:55837154:T:C	Y108H	0.995

dbSNP variants (sampled 300 via entrez): RS10000711 (4:55817850 A>T), RS1000120129 (4:55825450 A>T), RS1000463253 (4:55818888 C>T), RS1000526014 (4:55827616 C>T), RS1000557213 (4:55827943 C>T), RS1000712872 (4:55820916 G>A), RS1001025264 (4:55820805 C>T), RS10014844 (4:55826665 T>A), RS1001695382 (4:55833365 A>C), RS1001728933 (4:55835227 A>G), RS1002009213 (4:55836704 C>A,T), RS1002104022 (4:55836389 T>C), RS1002181557 (4:55823771 C>A,T), RS1002222160 (4:55834951 A>T), RS1002293398 (4:55834715 C>A,G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Lipopolysaccharides	affects response to substance, increases expression	1

Clinical trials (associated diseases)

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