| Tumor Protein D52-like 1 | OKDB#: 3951 |
| Symbols: | TPD52L1 | Species: | human | ||
| Synonyms: | D53, hD53, MGC8556, TPD52L2,D53 | Locus: | 6q22-q23 in Homo sapiens |
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| General Comment | NCBI Summary: This gene encodes a member of the tumor protein D52 (TPD52) family. The encoded protein contains a coiled-coil domain and may form homo- or hetero-dimer with TPD52 family members. The protein is reported to be involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed, but the full-length nature of some variants has not yet been determined. [provided by RefSeq] | ||||
| General function | Intracellular signaling cascade | ||||
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| Cellular localization | Cytoplasmic | ||||
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| Ovarian function | |||||
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| Ovarian localization | Oocyte | ||||
| Comment | Genomewide discovery and classification of candidate ovarian fertility genes in the mouse. Gallardo TD et al. Female infertility syndromes are among the most prevalent chronic health disorders in women, but their genetic basis remains unknown because of uncertainty regarding the number and identity of ovarian factors controlling the assembly, preservation, and maturation of ovarian follicles. To systematically discover ovarian fertility genes en masse, we employed a mouse model (Foxo3) in which follicles are assembled normally but then undergo synchronous activation. We developed a microarray-based approach for the systematic discovery of tissue-specific genes and, by applying it to Foxo3 ovaries and other samples, defined a surprisingly large set of ovarian factors (n = 348, approximately 1% of the mouse genome). This set included the vast majority of known ovarian factors, 44% of which when mutated produce female sterility phenotypes, but most were novel. Comparative profiling of other tissues, including microdissected oocytes and somatic cells, revealed distinct gene classes and provided new insights into oogenesis and ovarian function, demonstrating the utility of our approach for tissue-specific gene discovery. This study will thus facilitate comprehensive analyses of follicle development, ovarian function, and female infertility. This is an oocyte-specific gene. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Jan. 29, 2009, 12:14 p.m. | by: |
hsueh email:
home page: |
| last update: | Jan. 29, 2009, 12:15 p.m. | by: | hsueh email: |
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