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signal peptide, CUB domain and EGF like domain containing 1 OKDB#: 5578
 Symbols: SCUBE1 Species: human
 Synonyms:  Locus: 22q13.2 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]
General function
Comment
Cellular localization Secreted, Plasma membrane
Comment
Ovarian function
Comment Circulating SCUBE1 levels in women with polycystic ovary syndrome. Erol O et al. (2018) Polycystic ovary syndrome (PCOS) is thought to represent an early manifestation of metabolic syndrome, which is associated with cardiovascular disease. Signal peptide-CUB (complement C1r/C1s, Uegf, and Bmp1)-epidermal growth factor domain-containing protein 1 (SCUBE1) is a platelet activation marker that plays important roles in vascular biology and has been closely linked to cardiovascular events. In the present study, we investigated SCUBE1 levels in lean glucose-tolerant women with PCOS and assessed the possible association between SCUBE1 levels and hormonal and metabolic features of women with PCOS. The study population consisted of 90 lean [body mass index (BMI) <25 kg/m2] women who were diagnosed as having PCOS using the Rotterdam criteria and 100 age- and BMI-matched healthy controls with no clinical or biochemical feature of hyperandrogenism. Glucose tolerance was evaluated in all subjects before recruitment using the 2 h 75 g oral glucose tolerance test, and only those exhibiting normal glucose tolerance were enrolled. Hormonal and metabolic parameters, and serum SCUBE1 levels were evaluated. Circulating SCUBE1 levels were significantly higher in women with PCOS than in controls (5.9±3.9 vs. 4.2±1.4 ng/mL, p=0.022). No association between SCUBE1 level and clinical or biochemical parameters was found in the control or PCOS group. SCUBE1 levels are elevated in women with PCOS compared with those in healthy controls; thus, this protein may be an early biomarker of cardiovascular disease later in life.//////////////////
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes PCO (polycystic ovarian syndrome)
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
KEGG Pathways
Recent Publications
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created: Sept. 25, 2018, 3:15 p.m. by: system   email:
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last update: Sept. 25, 2018, 3:17 p.m. by: hsueh    email:



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