HORMAD1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
HORMA domain-containing protein 1 (HORMAD1) also known as cancer/testis antigen 46 (CT46) is a protein that in humans is encoded by the HORMAD1 gene.[5][6][7]
| HORMAD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | HORMAD1, CT46, NOHMA, HORMA domain containing 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 609824; MGI: 1915231; HomoloGene: 69415; GeneCards: HORMAD1; OMA:HORMAD1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
HORMAD1 is a cancer/testis antigen that plays a key role in meiotic progression.[6] It has shown to regulate 3 different functions during meiosis. Specifically, it:
- 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) [8]
Role in cancer
HORMAD1 has been shown to have a role in Triple-Negative Breast Cancers [9] and in Lung Adenocarcinomas.[10] In particular, the Watkins et al., paper suggested that overexpression of HORMAD1 is a driver of homologous recombination repair deficiency in these types of breast cancers, and induced widespread allelic imbalances in the genome with implications for platinum and PARP inhibitor sensitivity.
