GenTIGSA Gene Database on Rare Genetic Disorders

Cathepsin F (CTSF) Associated conditions:  1. Neuronal ceroid lipofuscinosis 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID
1 REVIEWED NM_003793.4 NP_003784.2 NC_000011.10 (66563463..66568605, complement) Reference GRCh38.p14 Primary Assembly -

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 139 reference articles

Variant Information Cathepsin F (CTSF) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns

GO Term of Cathepsin F (CTSF)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensIEAinvolved_inimmune system processProcess- 
2Homo sapiensIBAenablescysteine-type endopeptidase activityFunction- 
3Homo sapiensIEAenablescysteine-type endopeptidase activityFunction- 
4Homo sapiensTASenablescysteine-type endopeptidase activityFunction9822672 
5Homo sapiensIPIenablesprotein bindingFunction15752368 
6Homo sapiensIBAis_active_inextracellular spaceComponent- 
7Homo sapiensIEAlocated_incytoplasmComponent- 
8Homo sapiensIBAis_active_inlysosomeComponent- 
9Homo sapiensIEAlocated_inlysosomeComponent- 
10Homo sapiensTASlocated_inlysosomeComponent9822672 
11Homo sapiensIEAinvolved_inproteolysisProcess- 
12Homo sapiensTASinvolved_inproteolysisProcess9822672 
13Homo sapiensIEAenablespeptidase activityFunction- 
14Homo sapiensIDAenablescysteine-type peptidase activityFunction15752368 
15Homo sapiensIEAenablescysteine-type peptidase activityFunction- 
16Homo sapiensIEAlocated_inendomembrane systemComponent- 
17Homo sapiensIEAenableshydrolase activityFunction- 
18Homo sapiensTASinvolved_inantigen processing and presentation of exogenous peptide antigen via MHC class IIProcess- 
19Homo sapiensIBAinvolved_inprotein catabolic processProcess- 
20Homo sapiensHDAlocated_inextracellular matrixComponent25037231 
21Homo sapiensTASlocated_inlysosomal lumenComponent- 
22Homo sapiensIEAlocated_inintracellular organelle lumenComponent- 
23Homo sapiensHDAlocated_inextracellular exosomeComponent18570454 
24Homo sapiensHDAlocated_inextracellular vesicleComponent24769233