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HPMR

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myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 OKDB#: 4645
 Symbols: MLLT4 Species: human
 Synonyms: AF6, RP3-431P23.3,  Locus: 6q27 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 a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]
General function Intracellular signaling cascade
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Granulosa
Comment 237 EXPRESSION PATTERNS OF DEUBIQUITYLATING FACTORS (Usp9x AND Af-6) IN GERM CELLS OF WILD TYPE AND TRANSGENIC PIGS. Oh MY et al. The ubiquitin (ub)-mediated degradation of certain regulatory proteins plays critical roles in various functions, including cell cycle, signal transduction, transcription regulation and endocytosis. Usp9x is stage dependently expressed in the germ cells during mouse gametogenesis. Af-6, a cell junction protein, has been identified as a substrate of Usp9x, indicating a possible association between Usp9x and Af-6 in spermatogenesis and oogenesis. In this study, we examined the expression patterns of Usp9x and Af-6 and their intracellular localization in transgenic pig testes and ovary. In both Sertoli and granulosa cells, Af-6 was continuously expressed throughout postnatal and adult stages. Both Af-6 and Usp9x were enriched at the sites of Sertoli-spermatid junctions, especially at stage IV. In granulosa cells, Usp9x was strongly expressed in primary follicles, but its expression rapidly decreased after the late-secondary follicle stage. On the other hand, the expression of both Usp9x and Af-6 was weak in transgenic pigs, with low expression in the Sertoli cells and relatively stronger expression in Graafian follicles. This study suggests that Usp9x and Af-6 were deubiquitylated in Sertoli and follicle cells in wild type and transgenic pigs.
Follicle stages Primary, Secondary
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.)
OMIM \ Animal Model
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created: March 11, 2012, 5:45 p.m. by: hsueh   email:
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last update: March 11, 2012, 5:48 p.m. by: hsueh    email:



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