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cerebellin 1 precursor OKDB#: 3853
 Symbols: CBLN1 Species: human
 Synonyms:  Locus: 16q12.1 in Homo sapiens

For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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DNA Microarrays
link to BioGPS
General Comment NCBI Summary: This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]
General function Ligand
Cellular localization Secreted
Comment Identification of Potential Biomarkers of Polycystic Ovary Syndrome via Integrated Bioinformatics Analysis. Yang D et al. (2020) Polycystic ovary syndrome (PCOS) is a life-long reproductive, endocrine, and metabolic disorder that affects up to 17% of women of reproductive age. However, the effect of granulosa cells (GCs) transcriptome changes on oocyte capacity and follicular development in patients with PCOS has not been elucidated. This study aims to analyze transcriptome changes in GCs of PCOS from different perspectives and explore potential biomarkers for the diagnosis and treatment of PCOS. The gene expression profiles of GSE34526 and GSE107746 were obtained from the GEO database. Differentially expressed genes (DEGs) and key signaling pathways were identified. Gene Set Enrichment Analysis (GSEA) revealed that Toll-like receptors, NOD-like receptors, and NOTCH signaling pathways were obviously enriched in GCs of PCOS. We further analyzed DEGs from three aspects: transcription factors (TFs), secreted proteins, and follicular development. Compared with normal GCs, the DEGs encoding TFs and secretory proteins in GCs of PCOS remarkably changed. Besides, HAS2 and CBLN1, which are highly expressed in preovulatory follicular GCs and may trigger ovulation, were significantly decreased in GCs of PCOS. This study found candidate genes and signaling pathways in PCOS, providing new insights and foundations for the etiology of PCOS. Besides, HSA2 and CBLN1 may be potential therapeutic biomarkers for ovulation disorders in PCOS.//////////////////
Ovarian function
Expression regulated by
Ovarian localization , Follicular Fluid
Comment Follicular fluid cerebellin and betatrophin regulate the metabolic functions of growing follicles in polycystic ovary syndrome. Ersahin AA et al. (2017) The aim of this study was to assess the changes of follicular fluid (FF) and serum levels of cerebellin precursor protein 1 (cbln1) and betatrophin in patients with polycystic ovary syndrome (PCOS) undergoing in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) with a gonadotropin-releasing hormone (GnRH) antagonist protocol. Twenty infertile women with PCOS and 20 control women diagnosed as poor responders undergoing ovarian stimulation with a GnRH antagonist were included. Blood samples were obtained during ovum pick-up. Follicular fluid from a dominant follicle was collected from the subjects. Using enzyme-linked immunosorbent assays, FF and serum levels of cbln1 and betatrophin were measured in both groups of participants. Metabolic and hormonal parameters were also determined and correlated with each other. Both groups of women had similar serum and FF betatrophin levels (55.0±8.9 ng/mL vs. 53.1±10.3 ng/mL, p=0.11). The serum and FF betatrophin levels of poor responders were found to be similar (49.9±5.9 ng/mL vs. 48.9±10.7 ng/mL, p=0.22). Conversely, the FF cbln1 levels of PCOS women were found to be significantly higher than the serum cbln1 levels (589.1±147.6 ng/L vs. 531.7±74.3 ng/L, p<0.02). The FF cbln1 levels of control participants without PCOS were significantly higher than their serum cbln1 levels (599.3±211.5 ng/L vs. 525.3±87.0 ng/L, p=0.01). Positive correlations were detected among body mass index, insulin resistance, serum insulin, total testosterone, and betatrophin levels in the PCOS group. Follicular fluid betatrophin and cbln1 concentrations may play a pivotal role on follicular growth in PCOS subjects undergoing IVF/ICSI with an antagonist protocol.////////////////// Precerebellin-related genes and precerebellin 1 peptide in endocrine glands of the rat - pattern of their expression. Rucinski M et al. The hexadecapeptide cerebellin (CER) is derived from a larger protein, cerebellin 1 precursor protein (Cbln1). At present four precerebellins (Cbln1-4) are known. They are highly expressed in the brain, in particular in the cerebellum. Since CER is involved in regulating endocrine functions, present studies aimed to investigate, by means of molecular biology techniques (RT-PCR, QPCR, Western blotting) the expression of Cbln related genes and Cbln1 protein in classic endocrine glands of the rat. RT-PCR revealed the presence of Cbln1 and Cbln3 mRNAs in all endocrine glands tested; hypothalamus, anterior pituitary, thyroid, adrenal cortex, testis, ovary and pancreatic islets. Expression of Cbln2 gene was demonstrated only in the hypothalamus, anterior pituitary and adrenal cortex and in cerebral cortex, which was studied as a positive control organ. On the contrary, expression of Cbln4 gene was found only in the cerebral cortex. Using QPCR, the highest expression of Cbln1 gene was demonstrated in hypothalamus and pancreatic islets, a somewhat lower one in the anterior pituitary and thyroid, while the lowest was in adrenal cortex, testis and ovary. In general, the Cbln3 gene exhibited a similar pattern of expression, with the highest level in pancreatic islets and somewhat lower in the hypothalamus. Cbln2 gene expression was high in the hypothalamus, lower in the anterior pituitary and very low in adrenal cortex. In general, the pattern of Cbln1 protein expression was similar to that of Cbln1 mRNA. Further experiments aimed to check possible association of Cbln1 with cell membrane. Such association is suggested by differences in Cbln1 protein amount after extraction with RIPA and TRIS buffers. Bioinformatic methods predicting transmembrane topology (HMMTOP and SPLIT 4.0 servers) suggest transmembrane localisation of Cbln1, with transmembrane domain sequence responsible for the formation of an alpha-helix. These findings suggest possible physiological roles of Cbln related peptides not only in the cerebellum, but also in the endocrine system. However, their specific role as modulators of the endocrine system requires further investigations.
Follicle stages
Phenotypes PCO (polycystic ovarian syndrome)
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
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created: Dec. 29, 2008, 12:20 a.m. by: hsueh   email:
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last update: Oct. 20, 2020, 11:04 a.m. by: hsueh    email:

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