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ubiquitin-like modifier activating enzyme 6 OKDB#: 4386
 Symbols: UBA6 Species: human
 Synonyms: E1-L2, MOP-4, UBE1L2, FLJ10808, FLJ23367,  Locus: 4q13.2 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: Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM]
General function
Comment
Cellular localization
Comment
Ovarian function Germ cell development
Comment Identification and Expression of Potential Regulators of the Mammalian Mitotic-to-Meiotic Transition. Hogarth CA et al. Meiosis is unique to germ cells and occurs in a sex-specific manner. The genes regulating meiotic initiation in either sex are yet to be fully elucidated. Recent studies have revealed the importance of retinoic acid and one of its target genes, Stra8, in meiotic initiation in both sexes. Microarray analysis of whole murine embryonic ovary and postnatal testis time course data revealed a single peak of Stra8 expression in each organ at the onset of meiosis; at E14.5 in the ovary and 10 dpp in the testis. In order to identify other genes involved in the initiation of meiosis in mammals, murine testis and ovary microarray data were examined more closely for transcripts with expression profiles similar to Stra8. Three such candidates include establishment of cohesion 1 homolog 2 (Esco2), encoding a protein essential for sister chromatid cohesion, SET domain, bifurcated 2 (Setdb2), the mouse ortholog of Eggless which is essential for oogenesis in Drosophila, and ubiquitin activating enzyme 6 (Uba6), a gene with fivefold higher expression in human and mouse testes than any other organ. In situ hybridization and immunohistochemistry or immunofluorescence were performed to localize Esco2, Setbd2 and Uba6 expression in the developing testis. The cellular expression pattern localized all three of these transcripts and their respective proteins to germ cells transitioning from mitosis to meiosis, hence supporting the hypothesis of their involvement in the initiation of meiosis. Future research will be directed at determining a specific role for these three proteins in germ cell differentiation.
Expression regulated by
Comment
Ovarian localization Primordial Germ Cell
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
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created: Sept. 15, 2010, 11:02 a.m. by: hsueh   email:
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last update: Sept. 15, 2010, 11:02 a.m. by: hsueh    email:



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