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ELEVEN NINETEEN LYSINE-RICH LEUKEMIA GENE OKDB#: 1498
 Symbols: ELEVEN NINETEEN LYSINE-RICH LEUKEMIA GENE Species: human
 Synonyms: ELL|  Locus: 19p13.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment By PCR screening of a cDNA library prepared from a patient's leukemia cells with t(11;19)(q23;p13.1) translocation, Thirman et al. (1994) obtained a fusion transcript containing exon 7 of MLL and sequence of an unknown gene. The sequence of this gene was amplified and used as a probe to screen a fetal brain cDNA library. On Northern blot analysis, this cDNA detected a 4.4-kb transcript that was abundant in peripheral blood leukocytes, skeletal muscle, placenta, and testis and expressed at lower levels in spleen, thymus, heart, brain, lung, kidney, liver, and ovary. ELL encodes an elongation factor that can increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. ELL is the second elongation factor to be implicated in oncogenesis,.

General function Transcription factor
Comment
Cellular localization
Comment
Ovarian function
Comment Khattak S, et al 2002 reported dELL, a drosophila homologue of transcription elongation factor ELL (eleven-nineteen lysine rich leukemia), is required for early Development in fly. ELL (Eleven-nineteen Lysine rich Leukemia) is known to be an elongation factor resembling elongin for RNA polymerase II transcription. A homologue of human ELL (hELL) was identified in Drosophila melanogaster (dELL) and several cDNA clones were isolated from the embryonic cDNA library. dELL is expressed mainly in the ovaries and early embryonic stages by developmental Northern blot. dELL encodes a protein of 912 amino acids which is substantially longer than the hELL (612 aa). Immunostaining revealed that dELL was localized to nuclei in early embryos and to nuclei of nurse cells and follicle cells in the ovary suggesting its important role in early development of drosophila. To elucidate the function of this gene in drosophila, P-element mobilization was performed by utilizing a P-element inserted upstream of dELL. Southern analysis showed that isolated mutants are internal P-element deletions. These P-element deletions can now be used to isolate dELL mutations by EMS mutagenesis.
Expression regulated by
Comment
Ovarian localization
Comment
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: May 4, 2002, 8:13 a.m. by: hsueh   email:
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last update: May 4, 2002, 8:13 a.m. by: system    email:



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