CUZD1 (CUB and zona pellucida like domains 1)

Gene

• Entrez ID: 50624
• Gene name: CUB and zona pellucida like domains 1
• Gene symbol: CUZD1
• Synonyms (NCBI Gene): ERG-1, ERG1, ITMAP1, UO-44
• Chromosome: 10
• Chromosome location: 10q26.13

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024595	hsa-miR-215-5p	Microarray	19074876
MIRT026847	hsa-miR-192-5p	Microarray	19074876
MIRT041100	hsa-miR-503-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005615	Component	Extracellular space	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0009986	Component	Cell surface	IBA
GO:0016020	Component	Membrane	IDA	15184879
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032023	Process	Trypsinogen activation	IEA
GO:0032023	Process	Trypsinogen activation	ISS
GO:0042588	Component	Zymogen granule	IEA
GO:0042589	Component	Zymogen granule membrane	IEA
GO:0042589	Component	Zymogen granule membrane	ISS
GO:0051301	Process	Cell division	IEA

Other IDs

• MIM: 616644
• HGNC: 17937
• e!Ensembl: ENSG00000138161

Protein

• UniProt ID: Q86UP6
• Protein name: CUB and zona pellucida-like domain-containing protein 1 (CUB and ZP domain-containing protein 1) (Transmembrane protein UO-44)
• Protein function: Localized to zymogen granules, where it functions in trypsinogen activation (By similarity). May indirectly regulate cell motility, cell-cell and cell/extracellular matrix interactions (PubMed:15184879). {ECO:0000250|UniProtKB:P70412, ECO:000026
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00431	CUB	50 → 143	CUB domain	Domain
  PF00431	CUB	154 → 262	CUB domain	Domain
  PF00100	Zona_pellucida	277 → 517	Zona pellucida-like domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in pancreas and epithelium of ovary. Expressed at higher levels in ovarian tumors than in normal tissue. {ECO:0000269|PubMed:15184879}.
• Sequence:

  MELVRRLMPLTLLILSCLAELTMAEAEGNASCTVSLGGANMAETHKAMILQLNPSENCTW
  TIERPENKSIRIIFSYVQLDPDGSCESENIKVFDGTSSNGPLLGQVCSKNDYVPVFESSS
  STLTFQIVTDSARIQRTVFVFYYFFSPNISIPNCGGYLDTLEGSFTSPNYPKPHPELAYC
  VWHIQVEKDYKIKLNFKEIFLEIDKQCKFDFLAIYDGPSTNSGLIGQVCGRVTPTFESSS
  NSLTVVLSTDYANSYRGFSASYTSIYAENINTTSLTCSSDRMRVIISKSYLEAFNSNGNN
  LQLKDPTCRPKLSNVVEFSVPLNGCGTIRKVEDQSITYTNIITFSASSTSEVITRQKQLQ
  IIVKCEMGHNSTVEIIYITEDDVIQSQNALGKYNTSMALFESNSFEKTILESPYYVDLNQ
  TLFVQVSLHTSDPNLVVFLDTCRASPTSDFASPTYDLIKSGCSRDETCKVYPLFGHYGRF
  QFNAFKFLRSMSSVYLQCKVLICDSSDHQSRCNQGCVSRSKRDISSYKWKTDSIIGPIRL
  KRDRSASGNSGFQHETHAEETPNQPFNSVHLFSFMVLALNVVTVATITVRHFVNQRADYK
  YQKLQNY

• Sequence length: 607

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
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25719829		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26273818, 26351932, 28343172		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26273818, 28343172, 31249498		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	9390998		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15750627, 18676740		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24097894		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29321207		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25719829		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	12401800		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	35589511	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	35589511	Associate	★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	29590158		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15750627, 18676740		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30557604		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26273818, 28343172		★☆☆☆☆ Found in Text Mining only