DISEASES

Disease-gene associations mined from literature

Literature associating NOLC1 and Treacher Collins syndrome

NOLC1 [ENSP00000385410]

Hepatitis C virus NS5A-transactivated protein 13; Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification. Involved in nucleologenesis, possibly by playing a role in the maintenance of the fundamental structure of the fibrillar center and dense fibrillar component in the nucleolus. It has intrinsic GTPase and ATPase activities.

Synonyms:  NOLC1,  NOLC1p,  hNOLC1,  Q14978,  Q96J17 ...

Linkouts:  STRING  Pharos  UniProt