EXOC3L1 (exocyst complex component 3 like 1)

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Gene Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 283849
• Gene name: Exocyst complex component 3 like 1
• Gene symbol: EXOC3L1
• Synonyms (NCBI Gene): EXOC3L
• Chromosome: 16
• Chromosome location: 16q22.1

Gene ontology (GO) Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000145	Component	Exocyst	IBA
GO:0000145	Component	Exocyst	IEA
GO:0000145	Component	Exocyst	ISS	18480549
GO:0000149	Function	SNARE binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0006887	Process	Exocytosis	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0006887	Process	Exocytosis	ISS	18480549
GO:0030072	Process	Peptide hormone secretion	IEA
GO:0030072	Process	Peptide hormone secretion	ISS	18480549
GO:0030133	Component	Transport vesicle	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030141	Component	Secretory granule	ISS	18480549
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0051601	Process	Exocyst localization	IBA

Other IDs

• MIM: 614117
• HGNC: 27540
• e!Ensembl: ENSG00000179044

Protein

• UniProt ID: Q86VI1
• Protein name: Exocyst complex component 3-like protein (Protein Jiangli)
• Protein function: As part of the exocyst, may play a role in regulated exocytosis of insulin granules.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06046	Sec6	188 → 722	Exocyst complex component Sec6	Family

• Sequence:

  MDSAAKDEMQPALSPGPEWPEQERAEQLARGAALKWASGIFYRPEQLARLGQYRSREVQR
  TCSLESRLKSVMQSYLEGVQTGVWQLAQAIEVVQGTREALSQARGLLQGMSQALQTLEPL
  RERVAQHKQLQALSHLLPRLRAVPAAVSHTQTLIDGQQFLEAYVSLRELEQLREDTWAPL
  GGLELPVFQGLDLLFEALGQAVEAAAGAAGKLAREDPALLVAAVRVAEVETGRTTPLGQV
  PRDWRQRCLRALQEGLEQAHFGSPLLPAPGALPGWLEALRVALPVELATAEALVAPCCPP
  QYNVVQLWAHTLHSGLRRSLQNLLAGPELEAADAFALLHWALHVYLGQEMMGSLELGPEA
  DVSQLEPLLTLENIEQLEATFVANIQASVSQWLQNALDGEVAEWGREHGPNTDPSGSYYS
  PMPAIVLQILEENIRVASLVSESLQQRVHGMALSELGTFLRSFSDALIRFSRDHFRGKSM
  APHYVPYLLAALNHKSALSSSVSVLQLDGAPSGALAPVEAALDELQRRIYRLVLEALQAE
  LQPLFADLPSRQWLSSPELLQSVCERTGRFCRDFWRVRNPTVQLLLAEAERAVVLQYLSA
  LMQGRLVCRGADERTQAAERLRHDAAQLQQLFLSLGLEENAHCAPVLLALRELLNLRDPA
  LLGLEVAGLRQQFPDVSEDHVSALLGLRGDLSREQHLAALSSLQAALPPSPRASRRVLFS
  LVPAPALAPASCLPSGSCARALLLAE

• Sequence length: 746

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 Show/Hide Unknown Diseases (10)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Clear cell carcinoma of kidney	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36852560	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for EXOC3L1.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to EXOC3L1.