CTSF (cathepsin F)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8722
Gene name Gene Name - the full gene name approved by the HGNC.
Cathepsin F
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTSF
Synonyms (NCBI Gene) Gene synonyms aliases
CATSF, CLN13
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 (
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs141915593 T>C,G Likely-pathogenic Splice acceptor variant
rs143313688 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs143889283 T>C Pathogenic Coding sequence variant, missense variant
rs148611356 G>C Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs375562245 G>A,C Pathogenic Missense variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(27)
miRTarBase ID miRNA Experiments Reference
MIRT018210 hsa-miR-335-5p Microarray 18185580
MIRT2207335 hsa-miR-383 CLIP-seq
MIRT2207336 hsa-miR-4691-3p CLIP-seq
MIRT2207337 hsa-miR-4714-5p CLIP-seq
MIRT2207338 hsa-miR-4772-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0004197 Function Cysteine-type endopeptidase activity IBA
GO:0004197 Function Cysteine-type endopeptidase activity IEA
GO:0004197 Function Cysteine-type endopeptidase activity TAS 9822672
GO:0005515 Function Protein binding IPI 15752368
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603539 2531 ENSG00000174080
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UBX1
Protein name Cathepsin F (CATSF) (EC 3.4.22.41)
Protein function Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis.
PDB 1M6D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08246 Inhibitor_I29 187 → 244 Cathepsin propeptide inhibitor domain (I29) Domain
PF00112 Peptidase_C1 271 → 482 Papain family cysteine protease Domain
Tissue specificity TISSUE SPECIFICITY: High expression levels in heart, skeletal muscle, brain, testis and ovary; moderate levels in prostate, placenta, liver and colon; and no detectable expression in peripheral leukocytes and thymus.
Sequence 
MAPWLQLLSLLGLLPGAVAAPAQPRAASFQAWGPPSPELLAPTRFALEMFNRGRAAGTRA
VLGLVRGRVRRAGQGSLYSLEATLEEPPCNDPMVCRLPVSKKTLLCSFQVLDELGRHVLL
RKDCGPVDTKVPGAGEPKSAFTQGSAMISSLSQNHPDNRNETFSSVISLLNEDPLSQDLP
VKMASIFKNFVITYNRTYESKEEARWRLSVFVNNMVRAQKIQALDRGTAQYGVTKFSDLT
EEEFRTIYLNTLLRKEPGNKMKQAKSVGDLAPPEWDWRSKGAVTKVKDQGMCGSCWAFSV
TGNVEGQWFLNQGTLLSLSEQELLDCDKMDKACMGGLPSNAYSAIKNLGGLETEDDYSYQ
GHMQSCNFSAEKAKVYINDSVELSQNEQKLAAWLAKRGPISVAINAFGMQFYRHGISRPL
RPLCSPWLIDHAVLLVGYGNRSDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASS
AVVD
Sequence length 484
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Lysosome
Apoptosis 		  MHC class II antigen presentation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 13 rs397514731, rs397514732, rs753084727, rs797045136, rs1555058286, rs1565311875 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 26141065
Alzheimer Disease Associate 27524508, 31521194
Behcet Syndrome Inhibit 39191728
Breast Neoplasms Associate 34646403
Carcinoma Basal Cell Stimulate 39312365
Carcinoma Non Small Cell Lung Associate 34923982
Dermatitis Associate 36057013
Diabetes Mellitus Associate 16186340, 24255036, 25446319, 27077448, 33181273
Diabetic Retinopathy Stimulate 16186340
Esophageal Neoplasms Associate 34716287