HORMAD1

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.

Full Name

HORMA domain containing 1

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.

Biological Process

Blastocyst development Source: UniProtKB
Meiotic cell cycle Source: UniProtKB
Meiotic DNA double-strand break formation Source: UniProtKB
Meiotic recombination checkpoint signaling Source: UniProtKB
Meiotic sister chromatid cohesion Source: UniProtKB
Oogenesis Source: UniProtKB
Regulation of homologous chromosome segregation Source: UniProtKB
Spermatogenesis Source: UniProtKB
Synaptonemal complex assembly Source: UniProtKB

Cellular Location

Nucleus; Chromosome. 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).

PTM

Phosphorylated at Ser-377 in a SPO11-dependent manner.