OCEL1

Summary

OCEL1 (occludin/ELL domain containing 1, HGNC:26221) is a protein-coding gene on chromosome 19p13.11, encoding Occludin/ELL domain-containing protein 1 (Q9H607).

Predicted to be involved in bicellular tight junction assembly. Predicted to be located in membrane. Predicted to be active in apical plasma membrane; bicellular tight junction; and cytoplasmic vesicle.

Source: NCBI Gene 79629 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Aicardi syndrome (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 78 total
• MANE Select transcript: NM_024578

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26221
Approved symbol	OCEL1
Name	occludin/ELL domain containing 1
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22709
Ensembl gene	ENSG00000099330
Ensembl biotype	protein_coding
Entrez	79629

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 10 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000215061, ENST00000594283, ENST00000595573, ENST00000595769, ENST00000596279, ENST00000597836, ENST00000598068, ENST00000598172, ENST00000599286, ENST00000599588, ENST00000600232, ENST00000600826, ENST00000601529, ENST00000601576, ENST00000602236, ENST00000928402, ENST00000928403, ENST00000928404

RefSeq mRNA: 1 — MANE Select: NM_024578 NM_024578

CCDS: CCDS12351

Canonical transcript exons

ENST00000215061 — 6 exons

Exon	Start	End
ENSE00003031467	17226226	17226316
ENSE00003130938	17228803	17229219
ENSE00003483331	17226693	17226869
ENSE00003505037	17227840	17228005
ENSE00003646568	17228256	17228309
ENSE00003679896	17226994	17227199

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 95.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.5564 / max 166.1558, expressed in 1810 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174469	14.3530	1799
174471	7.1443	1629
174468	1.4486	1048
174470	0.3170	144
174472	0.2935	138

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.89	gold quality
right lobe of liver	UBERON:0001114	95.20	gold quality
mucosa of transverse colon	UBERON:0004991	93.56	gold quality
granulocyte	CL:0000094	91.74	gold quality
apex of heart	UBERON:0002098	91.70	gold quality
right lobe of thyroid gland	UBERON:0001119	91.55	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.67	gold quality
metanephros cortex	UBERON:0010533	90.66	gold quality
right adrenal gland	UBERON:0001233	90.39	gold quality
left lobe of thyroid gland	UBERON:0001120	90.36	gold quality
right adrenal gland cortex	UBERON:0035827	90.35	gold quality
transverse colon	UBERON:0001157	90.29	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.28	gold quality
body of pancreas	UBERON:0001150	89.92	gold quality
left adrenal gland cortex	UBERON:0035825	89.84	gold quality
body of stomach	UBERON:0001161	89.72	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.63	gold quality
left adrenal gland	UBERON:0001234	89.42	gold quality
small intestine Peyer’s patch	UBERON:0003454	89.25	gold quality
adrenal cortex	UBERON:0001235	89.11	gold quality
thyroid gland	UBERON:0002046	89.10	gold quality
liver	UBERON:0002107	88.82	gold quality
endocervix	UBERON:0000458	88.76	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.31	gold quality
small intestine	UBERON:0002108	88.24	gold quality
adult mammalian kidney	UBERON:0000082	87.97	gold quality
body of uterus	UBERON:0009853	87.83	gold quality
prefrontal cortex	UBERON:0000451	87.77	gold quality
stromal cell of endometrium	CL:0002255	87.72	gold quality
omental fat pad	UBERON:0010414	87.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting OCEL1, 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-765	99.84	68.24	2442
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-558	97.50	67.16	977
HSA-MIR-1289	97.46	65.37	655
HSA-MIR-324-5P	95.68	65.20	560

Literature-anchored findings (GeneRIF, showing 1)

• Low OCEL1 expression is associated with poor prognosis in human non-small cell lung cancer. (PMID:32083572)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-13k12.2	ENSDARG00000038121
danio_rerio	zgc:154006	ENSDARG00000061797
danio_rerio	marveld2l	ENSDARG00000061800
mus_musculus	Ocel1	ENSMUSG00000002396
rattus_norvegicus	Ocel1	ENSRNOG00000032575
drosophila_melanogaster	Su(Tpl)	FBGN0014037
caenorhabditis_elegans		WBGENE00021281

Paralogs (5): ELL (ENSG00000105656), ELL2 (ENSG00000118985), ELL3 (ENSG00000128886), MARVELD2 (ENSG00000152939), OCLN (ENSG00000197822)

Protein

Protein identifiers

Occludin/ELL domain-containing protein 1 — Q9H607 (reviewed: Q9H607)

All UniProt accessions (9): Q9H607, M0QXM2, M0QY63, M0QZ32, M0QZ36, M0QZZ7, M0R0F7, M0R0L3, M0R1A4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the ELL/occludin family.

RefSeq proteins (1): NP_078854* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010844	Occludin_ELL	Domain
IPR031176	ELL/occludin	Family

Pfam: PF07303

UniProt features (7 total): compositionally biased region 2, sequence variant 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H607-F1	74.59	0.42

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 121 (showing top): GOBP_APICAL_JUNCTION_ASSEMBLY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_CELL_JUNCTION_ORGANIZATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, COATES_MACROPHAGE_M1_VS_M2_UP, NIKOLSKY_BREAST_CANCER_19P13_AMPLICON, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_CELL_JUNCTION_ASSEMBLY, GOBP_CELL_CELL_JUNCTION_ASSEMBLY, GOCC_CELL_CELL_JUNCTION, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, SCHLOSSER_SERUM_RESPONSE_UP

GO Biological Process (1): bicellular tight junction assembly (GO:0070830)

GO Molecular Function (0):

GO Cellular Component (4): bicellular tight junction (GO:0005923), apical plasma membrane (GO:0016324), cytoplasmic vesicle (GO:0031410), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
apical junction assembly	1
tight junction assembly	1
apical junction complex	1
tight junction	1
apical part of cell	1
plasma membrane region	1
cytoplasm	1
intracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

372 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OCEL1	ABHD8	Q96I13	455
OCEL1	TMEM205	Q6UW68	446
OCEL1	TLCD1	Q96CP7	431
OCEL1	CLDND1	Q9NY35	429
OCEL1	DYDC2	Q96IM9	415
OCEL1	A0A2U3TZT1	A0A2U3TZT1	401
OCEL1	RPP25	Q9BUL9	382
OCEL1	LYPD8	Q6UX82	379
OCEL1	RAB13	P51153	377
OCEL1	BBLN	Q9BUW7	377
OCEL1	RAB31	Q13636	374
OCEL1	FAM217B	Q9NTX9	373
OCEL1	DHRS12	A0PJE2	370
OCEL1	YIPF3	Q9GZM5	370
OCEL1	TMT1B	Q6UX53	367

IntAct

4 interactions, top by confidence:

A	B	Type	Score
	OCEL1	psi-mi:“MI:0407”(direct interaction)	0.440
SRPK2	OCEL1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
OCEL1	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440

BioGRID (5): OCEL1 (Reconstituted Complex), OCEL1 (Affinity Capture-RNA), APP (Reconstituted Complex), OCEL1 (Biochemical Activity), OCEL1 (Biochemical Activity)

ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1

Diamond homologs: F1MGG3, O00472, O08856, P55199, Q0IHQ3, Q28793, Q3UKU1, Q3UZP0, Q5XFX8, Q6P6T5, Q80VR2, Q8N4S9, Q91049, Q9H607, Q9HB65, Q9PUN1, Q9VW51, Q8VCR9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

78 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	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

1120 predictions. Top by Δscore:

Variant	Effect	Δscore
19:17227159:GGGCA:G	donor_gain	1.0000
19:17226264:G:GT	donor_gain	0.9900
19:17227099:GA:G	donor_gain	0.9900
19:17227160:GGCA:G	donor_gain	0.9900
19:17227161:GCA:G	donor_gain	0.9900
19:17227195:GAGCT:G	donor_gain	0.9900
19:17227197:GCT:G	donor_gain	0.9900
19:17227200:G:GG	donor_gain	0.9900
19:17228254:A:AG	acceptor_gain	0.9900
19:17228255:G:GG	acceptor_gain	0.9900
19:17228255:GAA:G	acceptor_gain	0.9900
19:17227839:GTAA:G	acceptor_gain	0.9800
19:17228251:TGCA:T	acceptor_loss	0.9800
19:17228252:GCAGA:G	acceptor_loss	0.9800
19:17228253:CA:C	acceptor_loss	0.9800
19:17228254:AG:A	acceptor_loss	0.9800
19:17228255:G:GC	acceptor_loss	0.9800
19:17227834:T:A	acceptor_gain	0.9700
19:17227838:A:AG	acceptor_gain	0.9700
19:17227839:G:GG	acceptor_gain	0.9700
19:17228254:AGAAG:A	acceptor_gain	0.9700
19:17228255:GA:G	acceptor_gain	0.9700
19:17228255:GAAGG:G	acceptor_gain	0.9700
19:17228307:ATGGT:A	donor_loss	0.9700
19:17228310:G:A	donor_loss	0.9700
19:17228311:TGA:T	donor_loss	0.9700
19:17228312:G:GT	donor_loss	0.9700
19:17228313:A:AC	donor_loss	0.9700
19:17228922:C:CG	donor_gain	0.9700
19:17227100:A:G	donor_gain	0.9600

AlphaMissense

1702 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:17228853:A:C	K241N	0.991
19:17228853:A:T	K241N	0.991
19:17227093:T:C	F116L	0.990
19:17227095:T:A	F116L	0.990
19:17227095:T:G	F116L	0.990
19:17227892:T:C	F169L	0.990
19:17227894:C:A	F169L	0.990
19:17227894:C:G	F169L	0.990
19:17228884:T:C	F252L	0.987
19:17228886:C:A	F252L	0.987
19:17228886:C:G	F252L	0.987
19:17227893:T:C	F169S	0.986
19:17228920:T:C	F264L	0.985
19:17228922:C:A	F264L	0.985
19:17228922:C:G	F264L	0.985
19:17228868:G:C	K246N	0.981
19:17228868:G:T	K246N	0.981
19:17227845:A:C	Y153S	0.978
19:17228864:T:A	L245H	0.978
19:17228876:T:C	I249T	0.978
19:17228855:T:C	L242P	0.976
19:17228864:T:C	L245P	0.976
19:17227893:T:G	F169C	0.974
19:17228852:A:T	K241I	0.974
19:17227845:A:G	Y153C	0.972
19:17227844:T:C	Y153H	0.970
19:17227844:T:G	Y153D	0.968
19:17228843:T:C	L238P	0.968
19:17228860:C:G	H244D	0.968
19:17228851:A:G	K241E	0.966

dbSNP variants (sampled 300 via entrez): RS1000020814 (19:17224937 G>A,C), RS1000584507 (19:17226526 G>A), RS1001372831 (19:17227208 C>T), RS1002827638 (19:17226468 C>A,T), RS1003159250 (19:17225442 T>C), RS1003357758 (19:17227440 C>T), RS1003380442 (19:17225103 G>C), RS1004670177 (19:17225967 G>C), RS1004718339 (19:17229564 T>A,G), RS1004986759 (19:17225465 A>C,G), RS1006657553 (19:17228089 T>A), RS1007942314 (19:17226915 A>T), RS1008027427 (19:17228943 C>T), RS1009164022 (19:17224613 G>A), RS1010894701 (19:17224925 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Aicardi syndrome	Limited	Autosomal dominant

Mondo (1): Aicardi syndrome (MONDO:0010568)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003542_158	Night sleep phenotypes	9.000000e-07

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D058540	Aicardi Syndrome	C10.500.034.687; C11.270.019; C16.131.162; C16.131.666.034.687; C16.320.290.019; C16.320.322.030

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	affects expression, decreases expression	3
Air Pollutants	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Cisplatin	increases expression, affects expression, affects cotreatment	2
Smoke	increases abundance, increases expression, decreases expression	2
Testosterone	affects cotreatment, increases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
afuresertib	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1
Leflunomide	decreases expression	1
Calcitriol	increases expression, affects cotreatment	1
Hydrogen Peroxide	affects expression	1
Silicon Dioxide	decreases expression	1
Thiram	decreases expression	1
Valproic Acid	affects expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00305305	Not specified	UNKNOWN	Brain Development Research Program
NCT00697411	Not specified	RECRUITING	Study of Selected X-Linked Disorders: Aicardi Syndrome