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Ovarian Kaleidoscope Database (OKdb)

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HPMR

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Protein Kinase C Substrate, 80-kd, Heavy Chain OKDB#: 3679
 Symbols: PRKCSH Species: human
 Synonyms: PCLD, PLD1, G19P1, AGE-R2,G19P1|GLUCOSIDASE II, BETA SUBUNIT|HEPATOCYSTIN, INCLUDED  Locus: 19p13.2 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 the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER). This protein is an acidic phospho-protein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed.
General function
Comment
Cellular localization Other Membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Granulosa
Comment Structure of the bovine VASAP-60/PRKCSH gene, functional analysis of the promoter, and gene expression analysis. Brl S et al. Vacuolar system-associated protein-60 (VASAP-60) constitutes the bovine ortholog of the human 'protein kinase C substrate 80K-H' (PRKCSH or 80K-H). We characterized the bovine VASAP-60/PRKCSH gene structure and promoter, identified cis-acting elements controlling VASAP-60 expression, searched for mRNA splice variants, and analyzed mRNA expression in ovarian follicles. Expression of VASAP-60 mRNA showed a 2.4-fold increase (P<0.0001) in granulosa cells of dominant follicles compared to small follicles (2-4 mm) or ovulatory follicles, and no mRNA splice variant was identified. The bovine VASAP-60 gene encompasses 12.5 kb and is composed of 18 exons and 17 introns. Primer extension analysis revealed a single transcription initiation site, and the promoter lacks a TATA box. Promoter activity assays were performed with a series of deletion constructs in different bovine cell lines (endometrial epithelial glandular, kidney epithelial and aortic endothelial) to identify cis-acting elements. The -53/+16 bp fragment (+1 = transcription start site) conferred minimal promoter activity whereas activator and repressor elements were located in the -200/-53 bp and -653/-200 bp fragments, respectively. Analysis of cis-acting elements in the -200/-53 bp activation domain revealed by gel shift assays and chromatin immunoprecipitation assay that transcription factor YY1 binds to VASAP-60 promoter. This study is the first to report that VASAP-60 is up-regulated in granulosa cells of dominant follicles, to document the primary structure of the bovine VASAP-60 gene and promoter, and to demonstrate that YY1 binds to the VASAP-60 proximal promoter and may act as a positive transcriptional regulator.
Follicle stages Antral, Preovulatory
Comment
Phenotypes
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.)
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created: Jan. 31, 2007, 12:04 p.m. by: hsueh   email:
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last update: Jan. 31, 2007, 12:07 p.m. by: hsueh    email:



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