| Type | Description |
|---|---|
| Definition | cathepsin F |
| Date | Results | Publications |
|---|---|---|
| 2019-08-24 12:09:00 | Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor disturbance) Kufs disease was supported by molecular diagnoses. Type A is usually caused by recessive pathogenic variants in CLN6 or dominant variants in DNAJC5. Type B Kufs is usually associated with recessive CTSF pathogenic variants. | 30561534 |
| 2018-08-18 11:09:00 | The CTSF gene may function as a tumor suppressor in gastric cancer | 28474574 |
| 2017-09-30 10:28:00 | Biallelic mutations in this gene have been shown to cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis with some cases resembling the impairment seen in AD. | 27524508 |
| 2015-07-25 10:27:00 | Disease-causing cathepsin-F mutants fail to cleave LIMP-2. Our findings provide evidence that LIMP-2 represents an in vivo substrate of cathepsin-F with relevance for understanding the pathophysiology of type-B-Kufs-disease. | 25576872 |
| 2014-02-22 11:46:00 | Small hairpin RNA silencing of proteinases overexpressed in diabetic corneas enhanced corneal epithelial and stem cell marker staining and accelerated wound healing. | 24255036 |
| Type | IDs |
|---|---|
| Synonymous | CATSF, CLN13 |
| Gene |
UniProtKB-ID:
CATF_HUMAN
UniprotKB:
Q9UBX1
UniParc:
UPI0000001657
EMBL:
AF136279,
AF071748,
AF071749,
AF132894,
BC036451,
AL137742,
AJ007331,
AF088886,
BC011682,
AK313657
Ensembl:
ENSG00000174080
KO:
hsa:8722
|
| Nucleutide sequences |
EMBL-CDS:
AAC78838.1,
CAB70900.1,
CAB42883.1,
AAH36451.1,
BAG36411.1,
AAD26616.2,
AAD41790.1,
AAC78839.1,
AAF13146.1,
AAH11682.1
Ensembl_TRS:
ENST00000310325
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000310832
RefSeq:
XP_011543630.1,
NP_003784.2
|
| Others |
UniRef100:
UniRef100_Q9UBX1
UniRef90:
UniRef90_Q9UBX1
UniRef50:
UniRef50_Q9UBX1
UniGene:
Hs.11590
CCDS:
CCDS8144.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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