ID:HORM1_MOUSE DESCRIPTION: RecName: Full=HORMA domain-containing protein 1; AltName: Full=Newborn ovary HORMA protein; FUNCTION: Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. SUBCELLULAR LOCATION: Isoform 1: Nucleus. Chromosome. Note=Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the prophase I stage of meiosis. Accumulates on the chromosomes during the leptotene to zygotene stages of meiotic prophase I. As germ cells progress into the pachytene stage, disappears from the synapsed chromosomal regions. Once the chromosomes desynapse during the diplotene stage, it again accumulates on the chromosome axis of the desynapsed homologs. TRIP13 is required for depletion from synapsed chromosomes. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. TISSUE SPECIFICITY: Specifically expressed in meiotic germ cells. DEVELOPMENTAL STAGE: Expressed in spermatocytes from P10 to adulthood. Expressed in oocytes from E12.5 to P9. Primarily detected in spermatocytes and less in spermatids or spermatogonia. Abundant in the nuclei of pachytene and zygotene cells. Also detected in nuclei of diplotene cells (at protein level). PTM: Phosphorylated. DISRUPTION PHENOTYPE: Mice develop normally without obvious somatic defects but males and females are sterile. Although spermatocytes are present in testis tubules at epithelial cycle stage III-IV, they undergo apoptosis by the end of stage IV, and post-meiotic cells are not found in testes, suggesting that spermatocytes are eliminated at a stage equivalent to mid- pachytene. In females, ovarian development is grossly normal, eggs fertilize and embryonic development arrests at blastocyst stage due to aneuploidy. SIMILARITY: Contains 1 HORMA domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 56019 - The spindle assembly checkpoint protein mad2
ModBase Predicted Comparative 3D Structure on Q9D5T7
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
