CTSF
cathepsin F
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. [provided by RefSeq, Jul 2008]
Known Variants198 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13897 | 11:66,331,169 | T/C | — | benign |
| rs2134948341 | 11:66,331,409 | C/G | — | uncertain significance |
| rs2495269420 | 11:66,331,415 | C/T | — | uncertain significance |
| rs768809245 | 11:66,331,417 | G/A | — | uncertain significance |
| rs397514733 | 11:66,331,420 | G/A | missense variant | uncertain significance |
| rs1004267060 | 11:66,331,432 | G/C | — | uncertain significance |
| rs2495269533 | 11:66,331,445 | A/T | — | uncertain significance |
| rs201552564 | 11:66,331,451 | C/T | — | uncertain significance |
| rs144556402 | 11:66,331,452 | G/A | — | likely benign |
| rs572846 | 11:66,331,458 | A/G | — | benign |
| rs1005336445 | 11:66,331,460 | G/A | — | uncertain significance |
| rs1383853489 | 11:66,331,546 | C/T | — | likely benign |
| rs2495270137 | 11:66,331,564 | C/T | — | uncertain significance |
| rs397514732 | 11:66,331,566 | C/G | missense variant | pathogenic |
| rs888414145 | 11:66,331,569 | C/T | — | uncertain significance |
| rs148155987 | 11:66,331,571 | G/A | — | likely benign |
| rs1161851567 | 11:66,331,576 | T/C | — | uncertain significance |
| rs1188816866 | 11:66,331,581 | C/T | — | uncertain significance |
| rs780392718 | 11:66,331,590 | T/C | — | uncertain significance |
| rs774367919 | 11:66,331,609 | C/T | — | likely benign |
| rs746980424 | 11:66,331,610 | G/A | — | likely benign |
| rs776303065 | 11:66,331,622 | G/T | — | uncertain significance |
| rs759434213 | 11:66,331,631 | C/T | — | likely benign |
| rs73505406 | 11:66,331,636 | C/T | — | likely benign |
| rs111799708 | 11:66,331,712 | A/G | — | likely benign |
| rs17147739 | 11:66,331,722 | A/C | — | likely benign |
| rs368422217 | 11:66,332,020 | G/A | — | likely benign |
| rs150922871 | 11:66,332,029 | G/A | — | conflicting classifications of pathogenicity |
| rs140795906 | 11:66,332,035 | C/T | — | uncertain significance |
| rs149687246 | 11:66,332,036 | G/A | — | likely benign |
| rs778969360 | 11:66,332,054 | C/T | — | likely benign |
| rs2495272227 | 11:66,332,065 | T/C | — | uncertain significance |
| rs781257663 | 11:66,332,071 | A/G | — | uncertain significance |
| rs2134949827 | 11:66,332,078 | G/T | — | likely pathogenic |
| rs1285792511 | 11:66,332,083 | G/A | — | uncertain significance |
| rs768353764 | 11:66,332,087 | C/A | — | likely benign |
| rs201295932 | 11:66,332,088 | C/T | — | uncertain significance |
| rs28464796 | 11:66,332,089 | G/A | — | likely benign |
| rs141345438 | 11:66,332,097 | C/T | — | conflicting classifications of pathogenicity |
| rs761039140 | 11:66,332,098 | G/A | — | uncertain significance |
| rs1565311875 | 11:66,332,103 | A/G | — | pathogenic |
| rs200426008 | 11:66,332,107 | C/T | — | uncertain significance |
| rs779164010 | 11:66,332,113 | G/A | — | uncertain significance |
| rs199830949 | 11:66,332,132 | A/G | — | likely benign |
| rs113541570 | 11:66,332,146 | C/T | — | likely benign |
| rs759960583 | 11:66,332,199 | G/A | — | likely benign |
| rs758499333 | 11:66,332,225 | G/A | — | likely benign |
| rs1296401147 | 11:66,332,232 | A/G | — | not provided |
| rs375891471 | 11:66,332,239 | C/T | — | uncertain significance |
| rs139027846 | 11:66,332,240 | G/A | — | likely benign |
| rs780211076 | 11:66,332,245 | T/C | — | uncertain significance |
| rs749210204 | 11:66,332,261 | C/T | — | likely benign |
| rs1857891935 | 11:66,332,268 | G/A | — | uncertain significance |
| rs1480417362 | 11:66,332,284 | T/C | — | likely benign |
| rs201693863 | 11:66,332,287 | G/A | — | likely benign |
| rs2134950483 | 11:66,332,364 | C/T | — | conflicting classifications of pathogenicity |
| rs116329758 | 11:66,332,365 | G/A | — | likely benign |
| rs143674429 | 11:66,332,383 | G/C | — | likely benign |
| rs1565312058 | 11:66,332,386 | G/T | — | uncertain significance |
| rs148080813 | 11:66,332,390 | T/C | — | uncertain significance |
| rs201500574 | 11:66,332,423 | T/C | — | conflicting classifications of pathogenicity |
| rs1316031740 | 11:66,332,436 | T/C | — | uncertain significance |
| rs746404498 | 11:66,332,454 | A/G | — | uncertain significance |
| rs1590815329 | 11:66,332,464 | T/C | — | likely benign |
| rs2134950758 | 11:66,332,475 | C/A | — | uncertain significance |
| rs141915593 | 11:66,332,479 | T/G | splice region variant | pathogenic |
| rs774488937 | 11:66,332,487 | G/A | — | likely benign |
| rs76487247 | 11:66,332,752 | C/G | — | benign |
| rs115467374 | 11:66,332,856 | T/C | — | likely benign |
| rs4630309 | 11:66,333,072 | C/A | — | benign |
| rs1456291681 | 11:66,333,141 | C/A | — | likely pathogenic |
| rs1565312331 | 11:66,333,154 | T/G | — | uncertain significance |
| rs2495275908 | 11:66,333,155 | G/A | — | likely benign |
| rs200646712 | 11:66,333,159 | G/A | — | uncertain significance |
| rs762134997 | 11:66,333,161 | G/A | — | likely benign |
| rs750069810 | 11:66,333,199 | C/T | — | uncertain significance |
| rs749794934 | 11:66,333,215 | C/T | — | likely benign |
| rs748582111 | 11:66,333,222 | T/C | — | uncertain significance |
| rs1051519244 | 11:66,333,223 | C/T | — | likely pathogenic |
| rs397514731 | 11:66,333,304 | T/C | missense variant | pathogenic |
| rs1857917060 | 11:66,333,310 | G/A | — | uncertain significance |
| rs1857917135 | 11:66,333,311 | A/C | — | uncertain significance |
| rs753084727 | 11:66,333,312 | — | — | pathogenic |
| rs1219372597 | 11:66,333,314 | G/A | — | uncertain significance |
| rs114727660 | 11:66,333,327 | C/T | — | likely benign |
| rs1424927546 | 11:66,333,333 | G/A | — | likely benign |
| rs746013208 | 11:66,333,378 | C/T | — | likely pathogenic |
| rs373234919 | 11:66,333,402 | C/T | — | likely benign |
| rs554536950 | 11:66,333,415 | G/C | — | likely benign |
| rs781540749 | 11:66,333,485 | G/A | — | likely benign |
| rs771943482 | 11:66,333,504 | C/G | — | uncertain significance |
| rs764869338 | 11:66,333,527 | C/T | — | uncertain significance |
| rs147398226 | 11:66,333,550 | G/A | — | likely benign |
| rs140002533 | 11:66,333,580 | C/T | — | likely benign |
| rs1448373102 | 11:66,333,588 | C/T | — | uncertain significance |
| rs776247858 | 11:66,333,590 | G/A | — | uncertain significance |
| rs545009 | 11:66,333,598 | C/T | — | benign |
| rs775268694 | 11:66,333,608 | G/A | — | uncertain significance |
| rs763662917 | 11:66,333,621 | T/C | — | uncertain significance |
| rs767931300 | 11:66,333,626 | C/T | — | uncertain significance |
Showing 100 of 198 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.