Gene: CTSF

Alternate names for this Gene: CATSF|CLN13

Gene Summary: Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: cathepsin F

Type of Gene: protein-coding

rs2242663 in CTSF gene and Bipolar Disorder PMID 19416921 2009 Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.

rs1791679 in CTSF gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs143889283 in CTSF gene and CEROID LIPOFUSCINOSIS, NEURONAL, 13 PMID 23297359 2013 Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.

rs4630309 in CTSF gene and Height PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.