HORMAD1 Antibody – Mouse Monoclonal

This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

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

By similarity.

Subunit structure: Interacts with HORMAD2

By similarity.

Subcellular location: Nucleus

By similarity. Chromosome

By similarity. Note: Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the prophase I stage of meiosis. TRIP13 is required for depletion from synapsed chromosomes. The expression of the phosphorylated form at Ser-377 is restricted to unsynapsed chromosomal regions

By similarity.

Tissue specificity: Testis-specific. Over-expressed in carcinomas. Ref.8

Post-translational modification: Phosphorylated at Ser-377 in a SPO11-dependent manner

By similarity.

Sequence similarities: Contains 1 HORMA domain.

Sequence caution: The sequence AAH33014.1 differs from that shown. Reason: Frameshift at position 89.