DISEASES

Disease-gene associations mined from literature

Literature associating BRDT and NUT midline carcinoma

BRDT [ENSP00000387822]

Bromodomain testis-specific protein; Testis-specific chromatin protein that specifically binds histone H4 acetylated at 'Lys-5' and 'Lys-8' (H4K5ac and H4K8ac, respectively) and plays a key role in spermatogenesis (PubMed:22464331, PubMed:22901802). Required in late pachytene spermatocytes: plays a role in meiotic and post-meiotic cells by binding to acetylated histones at the promoter of specific meiotic and post-meiotic genes, facilitating their activation at the appropriate time . In the post-meiotic phase of spermatogenesis, binds to hyperacetylated histones and participates in their general removal from DNA . Also recognizes and binds a subset of butyrylated histones: able to bind histone H4 butyrylated at 'Lys-8' (H4K8ac), while it is not able to bind H4 butyrylated at 'Lys-5' (H4K5ac) (By similarity). Also acts as a component of the splicing machinery in pachytene spermatocytes and round spermatids and participates in 3'-UTR truncation of specific mRNAs in post-meiotic spermatids (By similarity). Required for chromocenter organization, a structure comprised of peri-centromeric heterochromatin. ECO:0000269|PubMed:22464331, ECO:0000269|PubMed:22901802,

Synonyms:  BRDT,  C9J0Z0,  C9J1F7,  C9JD82,  C9JDL5 ...

Linkouts:  STRING  Pharos  UniProt