OCEL1 (occludin/ELL domain containing 1)

Gene

• Entrez ID: 79629
• Gene name: Occludin/ELL domain containing 1
• Gene symbol: OCEL1
• Synonyms (NCBI Gene): FWP009, S863-9
• Chromosome: 19
• Chromosome location: 19p13.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1201767	hsa-miR-185	CLIP-seq
MIRT1201768	hsa-miR-2278	CLIP-seq
MIRT1201769	hsa-miR-4306	CLIP-seq
MIRT1201770	hsa-miR-4420	CLIP-seq
MIRT1201771	hsa-miR-4534	CLIP-seq
MIRT1201772	hsa-miR-4644	CLIP-seq
MIRT1201773	hsa-miR-4690-5p	CLIP-seq
MIRT2286625	hsa-miR-1182	CLIP-seq
MIRT2286626	hsa-miR-339-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005923	Component	Bicellular tight junction	IBA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0070830	Process	Bicellular tight junction assembly	IBA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q9H607
• Protein name: Occludin/ELL domain-containing protein 1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07303	Occludin_ELL	153 → 254	Occludin homology domain	Domain

• Sequence:

  MHNPDGSASPTADPGSELQTLGQAARRPPPPRAGHDAPRRTRPSARKPLSCFSRRPMPTR
  EPPKTRGSRGHLHTHPPGPGPPLQGLAPRGLKTSAPRPPCQPQPGPHKAKTKKIVFEDEL
  LSQALLGAKKPIGAIPKGHKPRPHPVPDYELKYPPVSSERERSRYVAVFQDQYGEFLELQ
  HEVGCAQAKLRQLEALLSSLPPPQSQKEAQVAARVWREFEMKRMDPGFLDKQARCHYLKG
  KLRHLKTQIQKFDDQGDSEGSVYF

• Sequence length: 264

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AICARDI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinoma Non Small Cell Lung	Associate	32083572	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	32083572	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Inhibit	32083572	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	32083572	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 1A	Associate	26395295	★☆☆☆☆ Found in Text Mining only