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cerebellar degeneration-related protein 1, 34kDa OKDB#: 3135
 Symbols: CDR1 Species: human
 Synonyms: CDR, CDR34, CDR62A,CDR, CDR34, CDR62A,CDR|CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN, 34-KD, CDR34  Locus: Xq27.1-q27.2 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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R-L INTERACTIONS   MGI

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link to BioGPS
General Comment NCBI Summary: Autoantibodies directed against the protein encoded by this intronless gene have been found in some patients with paraneoplastic cerebellar degeneration. The encoded protein contains several hexapeptide repeats. [provided by RefSeq, Jan 2010]
General function Cell cycle regulation
Comment
Cellular localization
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment The dormant and the fully competent oocyte: comparing the transcriptome of human oocytes from primordial follicles and in metaphase ii. Grndahl ML et al. Oocytes become enclosed in primordial follicles during fetal life and remain there dormant until activation followed by growth and meiotic resumption. Current knowledge about the molecular pathways involved in oogenesis is incomplete. This study identifies the specific transcriptome of the human oocyte in the quiescent state and at the pinnacle of maturity at ovulation. In silico bioinformatic comparisons were performed between transcriptome of human oocytes from dormant primordial follicles and that of human metaphase II (MII) oocytes and granulosa cells and unique gene expression profiles were identified as well as functional and pathway enrichments associated with the oocytes from the two developmental hallmarks. A total of 729 genes were highly enriched in oocytes from primodial folllicles and 1456 genes were highly enriched in MII oocytes (>10 fold, p<0.001) representing functional categories such as cell cycle regulation, DNA protection and epigenetics, with representative genes validated by qPCR analysis. Dominating canonical pathways in the oocytes from primordial follicles were androgen, estrogen receptor, glucocortocoid receptor and PI3 K/AKT signaling (p<0.001). In the MII, mitotic roles of polo-like kinases, estrogen receptor, JAK/Stat signaling (p<0.001) and the ERK/MAPK (p<0.01) signaling were enriched. Some of the highly differentially expressed genes were completely new in human reproduction (CDR1, TLC1A, UHRF2) while other genes (ABO, FOLR1 (folate receptor), CHRNA3 (nicotine receptor)) may relate to clinical observations as diverse as premature ovarian failure, folic acid deficiency and smoking affecting female fertility. The in silico analysis identified novel reproduction associated genes and highlighted molecular mechanisms and pathways associated to the unique functions of the human oocyte in its two extremes of the folliculogenesis. The data provides a fundamental basis for future functional studies in regulation of human oogenesis.
Follicle stages Primordial
Comment Arraztoa JA, et al 2005 reported the identification of this gene expressed in primate primordial oocytes.
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.)
OMIM \ Animal Model
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created: June 21, 2006, 10:39 a.m. by: alex   email:
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last update: April 22, 2013, 2:42 p.m. by: hsueh    email:



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