KNOP1
Description
The KNOP1 (lysine rich nucleolar protein 1) is a protein-coding gene located on chromosome 16.
KNOP1, also known as TSG118, C16orf88, and FAM191A, is a protein encoded by the KNOP1 gene on chromosome 16. It spans 15.21 kb and has 6 exons that are alternatively spliced to produce three main transcript isoforms. Two isoforms (B and C) lack exon 1, resulting in proteins with a shorter N-terminus. Isoform C also lacks exon 4, which encodes the C-terminal DUF5595 domain. KNOP1 is located near VPS35L upstream and IQCK downstream. IQCK has been linked to obsessive-compulsive disorder, and VPS35L encodes a protein involved in the retriever complex. KNOP1 is highly expressed in the superior cervical ganglion, testis, placenta, and during early heart and lung development. It shows lower expression levels in the liver and pancreas.
KNOP1 is also known as 101F10.1, C16orf88, FAM191A, TSG118.
Associated Diseases
- episodic ataxia type 1
- isolated dystonia
- spinocerebellar ataxia type 15/16
- dystonia 5
- spinocerebellar ataxia type 20
- X-linked parkinsonism-spasticity syndrome
- torsion dystonia 2
- Alzheimer disease
