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NUCLEAR FRAGILE X MENTAL RETARDATION PROTEIN-INTERACTING PROTEIN 1; NUFIP1 OKDB#: 2101
 Symbols: NUCLEAR FRAGILE X MENTAL RETARDATION PROTEIN-INTER Species: human
 Synonyms: NUCLEAR FMRP-INTERACTING PROTEIN, NUFIP|  Locus: 13q14 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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General Comment Silenced expression of the FMR1 gene (309550) is responsible for fragile X syndrome. The FMR1 gene encodes an RNA-binding protein (FMRP) that can shuttle between the nucleus and the cytoplasm and is found associated with polysomes in the cytoplasm. Using a yeast 2-hybrid assay, Bardoni et al. (1999) identified a novel protein interacting with FMRP, and they designated the protein NUFIP (nuclear FMRP-interacting protein). NUFIP mRNA expression was found to be strikingly similar to that of the FMR1 gene in neurons of cortex, and cerebellum. At the subcellular level, NUFIP colocalized with nuclear isoforms of FMRP in a dot-like pattern. NUFIP contains a C2H2 zinc finger motif and a nuclear localization signal. In vitro, NUFIP showed RNA-binding activity.

General function Cell proliferation, RNA processing, RNA binding
Comment
Cellular localization Nuclear
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment This gene was found in a PMSG-treated ovarina library.
Follicle stages
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: Aug. 7, 2003, 5:22 p.m. by: hsueh   email:
home page:
last update: Oct. 13, 2011, 11:37 a.m. by: hsueh    email:



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