HEATR1
Description
The HEATR1 (HEAT repeat containing 1) is a protein-coding gene located on chromosome 1.
HEAT repeat-containing protein 1 is a protein that in humans is encoded by the HEATR1 gene.
HEAT repeat-containing protein 1 (HEATR1) is a ribosome biogenesis factor involved in the nucleolar processing of pre-18S ribosomal RNA. It is crucial for optimal pre-ribosomal RNA transcription by RNA polymerase I. HEATR1 is part of the small subunit (SSU) processome, the initial precursor of the small eukaryotic ribosomal subunit. During SSU processome assembly in the nucleolus, HEATR1 interacts with other ribosome biogenesis factors, an RNA chaperone, and ribosomal proteins to facilitate RNA folding, modifications, rearrangements, and cleavage, as well as the targeted degradation of pre-ribosomal RNA by the RNA exosome.
HEATR1 is also known as BAP28, UTP10.
Associated Diseases
- Parkinson disease
- lysosomal storage disease
- Alzheimer disease
- multiple sclerosis
- endometrial cancer
- pachyonychia congenita
- cancer
- pancreatic ductal adenocarcinoma
