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 ca... See more...

Aliases for CTSF Gene

Aliases for CTSF Gene

  • Cathepsin F 2 3 4 5
  • CATSF 2 3 4
  • EC 3.4.22.41 4 50
  • CLN13 2 3
  • EC 3.4.22 50
  • CTSF 5

External Ids for CTSF Gene

Previous GeneCards Identifiers for CTSF Gene

  • GC11M068865
  • GC11M068012
  • GC11M066580
  • GC11M066106
  • GC11M066088
  • GC11M066332
  • GC11M062658
  • GC11M066568
  • GC11M066570
  • GC11M066593
  • GC11M066596
  • GC11M066597
  • GC11M066612
  • GC11M066571
  • GC11M066572
  • GC11M066574
  • GC11M066579
  • GC11M066582
  • GC11M066584
  • GC11M066586
  • GC11M066588
  • GC11M066640
  • GC11M066657

Summaries for CTSF Gene

Entrez Gene Summary for CTSF 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 (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]

GeneCards Summary for CTSF Gene

CTSF (Cathepsin F) is a Protein Coding gene. Diseases associated with CTSF include Ceroid Lipofuscinosis, Neuronal, 13 and Adult Neuronal Ceroid Lipofuscinosis. Among its related pathways are Apoptosis Modulation and Signaling and Lysosome. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and cysteine-type peptidase activity. An important paralog of this gene is CTSW.

UniProtKB/Swiss-Prot Summary for CTSF Gene

  • Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis.

Gene Wiki entry for CTSF Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTSF Gene

Genomics for CTSF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTSF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTSF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTSF

Top Transcription factor binding sites by QIAGEN in the CTSF gene promoter:
  • AP-1
  • CREB
  • CUTL1
  • deltaCREB
  • FOXO4
  • GR
  • GR-alpha
  • Spz1
  • TGIF
  • USF1

Genomic Locations for CTSF Gene

Latest Assembly
chr11:66,563,463-66,568,879
(GRCh38/hg38)
Size:
5,417 bases
Orientation:
Minus strand

Previous Assembly
chr11:66,330,935-66,336,077
(GRCh37/hg19 by Entrez Gene)
Size:
5,143 bases
Orientation:
Minus strand

chr11:66,330,934-66,336,312
(GRCh37/hg19 by Ensembl)
Size:
5,379 bases
Orientation:
Minus strand

Genomic View for CTSF Gene

Genes around CTSF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTSF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSF Gene

Proteins for CTSF Gene

  • Protein details for CTSF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBX1-CATF_HUMAN
    Recommended name:
    Cathepsin F
    Protein Accession:
    Q9UBX1
    Secondary Accessions:
    • B2R964
    • O95240
    • Q9NSU4
    • Q9UKQ5

    Protein attributes for CTSF Gene

    Size:
    484 amino acids
    Molecular mass:
    53366 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CTSF Gene

neXtProt entry for CTSF Gene

Selected DME Specific Peptides for CTSF Gene

Q9UBX1:
  • CGSCWAF
  • FSDLTEEEF

Post-translational modifications for CTSF Gene

  • Glycosylation at Asn160, Asn195, Asn367, Asn378, and Asn440
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for CTSF Gene

Gene Families for CTSF Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CTSF Gene

InterPro:
Blocks:
  • Papain cysteine protease (C1) family signature
  • Proteinase inhibitor I29, cathepsin propeptide

Suggested Antigen Peptide Sequences for CTSF Gene

GenScript: Design optimal peptide antigens:
  • Cathepsin F (CATF_HUMAN)
  • CTSF protein (Q6FHS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBX1

UniProtKB/Swiss-Prot:

CATF_HUMAN :
  • Belongs to the peptidase C1 family.
Family:
  • Belongs to the peptidase C1 family.
genes like me logo Genes that share domains with CTSF: view

Function for CTSF Gene

Molecular function for CTSF Gene

UniProtKB/Swiss-Prot Function:
Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=The recombinant enzyme cleaves synthetic substrates with Phe and Leu (better than Val) in P2, with high specificity constant (k(cat)/K(m)) comparable to that of cathepsin L.; EC=3.4.22.41;.
GENATLAS Biochemistry:
cysteine proteinase,papain family,cathepsin F,widely expressed,involved in degradative processes during tumor progression,subgroup F-like protease

Enzyme Numbers (IUBMB) for CTSF Gene

Phenotypes From GWAS Catalog for CTSF Gene

Gene Ontology (GO) - Molecular Function for CTSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity TAS,IBA 21873635
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CTSF: view
genes like me logo Genes that share phenotypes with CTSF: view

Human Phenotype Ontology for CTSF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTSF Gene

MGI Knock Outs for CTSF:

Animal Models for research

  • Taconic Biosciences Mouse Models for CTSF

miRNA for CTSF Gene

miRTarBase miRNAs that target CTSF

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTSF

No data available for Transcription Factor Targets and HOMER Transcription for CTSF Gene

Localization for CTSF Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSF Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTSF gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 3
cytosol 3
endoplasmic reticulum 2
endosome 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005764 lysosome IEA,IBA 21873635
GO:0043202 lysosomal lumen TAS --
GO:0062023 collagen-containing extracellular matrix HDA 25037231
GO:0070062 extracellular exosome HDA 18570454
genes like me logo Genes that share ontologies with CTSF: view

Pathways & Interactions for CTSF Gene

genes like me logo Genes that share pathways with CTSF: view

Pathways by source for CTSF Gene

2 KEGG pathways for CTSF Gene
1 GeneTex pathway for CTSF Gene

Gene Ontology (GO) - Biological Process for CTSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,TAS 9822672
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0051603 proteolysis involved in cellular protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with CTSF: view

No data available for SIGNOR curated interactions for CTSF Gene

Drugs & Compounds for CTSF Gene

(12) Drugs for CTSF Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[1-(1-Benzyl-3-Hydroxy-2-Oxo-Propylcarbamoyl)-2-Phenyl-Ethyl]-Carbamic Acid Benzyl Ester Experimental Pharma Target 0
[1-(1-Methyl-4,5-Dioxo-Pent-2-Enylcarbamoyl)-2-Phenyl-Ethyl]-Carbamic Acid Benzyl Ester Experimental Pharma Target 0
4-Morpholin-4-Yl-Piperidine-1-Carboxylic Acid [1-(3-Benzenesulfonyl-1-Propyl-Allylcarbamoyl)-2-Phenylethyl]-Amide Experimental Pharma Target 0
Benzoyl-tyrosine-alanine-fluoro-methyl ketone Experimental Pharma Target 0
Benzyl N-[(2S)-5-(diaminomethylamino)-1-[[(2S)-4-fluoro-3-oxobutan-2-yl]amino]-1-oxopentan-2-yl]carbamate Experimental Pharma Target 0

(1) Additional Compounds for CTSF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) ApexBio Compounds for CTSF Gene

Compound Action Cas Number
E-64-c Inhibitor of cysteine proteinases 76684-89-4
Odanacatib (MK-0822) Cathepsin K,potent and selective 603139-19-1
Papain Inhibitor Inhibitor of peptidase activity of Papain 70195-20-9
genes like me logo Genes that share compounds with CTSF: view

Drug products for research

Transcripts for CTSF Gene

mRNA/cDNA for CTSF Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
39 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTSF

Alternative Splicing Database (ASD) splice patterns (SP) for CTSF Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: -
SP2:
SP3: - -
SP4: -
SP5: -
SP6:

Relevant External Links for CTSF Gene

GeneLoc Exon Structure for
CTSF

Expression for CTSF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTSF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CTSF Gene

This gene is overexpressed in Serum (31.0), Vitreous humor (17.9), and Plasma (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTSF Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTSF

SOURCE GeneReport for Unigene cluster for CTSF Gene:

Hs.11590

mRNA Expression by UniProt/SwissProt for CTSF Gene:

Q9UBX1-CATF_HUMAN
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.

Evidence on tissue expression from TISSUES for CTSF Gene

  • Nervous system(4.9)
  • Muscle(4.5)
  • Liver(4.5)
  • Kidney(4.4)
  • Lung(4.4)
  • Eye(3.1)
  • Skin(2.4)
  • Heart(2.2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSF Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CTSF: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CTSF Gene

Orthologs for CTSF Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTSF 29 30
  • 98.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CTSF 29 30
  • 86.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CTSF 29 30
  • 86.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ctsf 29 16 30
  • 82.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ctsf 29
  • 82.39 (n)
Oppossum
(Monodelphis domestica)
Mammalia CTSF 30
  • 57 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 30 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ctsf 29
  • 65.48 (n)
Zebrafish
(Danio rerio)
Actinopterygii ctsf 29 30
  • 56.87 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12546 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG12163 30 31
  • 29 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tag-196 29 30
  • 52.35 (n)
OneToMany
F41E6.6 31
  • 45 (a)
R07E3.1 31
  • 35 (a)
R09F10.1 31
  • 34 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G54940 29
  • 48.33 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0480900 29
  • 53.58 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.4417 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2594 30
  • 63 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1645 29
Species where no ortholog for CTSF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CTSF Gene

ENSEMBL:
Gene Tree for CTSF (if available)
TreeFam:
Gene Tree for CTSF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTSF: view image
Alliance of Genome Resources:
Additional Orthologs for CTSF

Paralogs for CTSF Gene

Paralogs for CTSF Gene

(9) SIMAP similar genes for CTSF Gene using alignment to 5 proteins:

  • CATF_HUMAN
  • E9PSC2_HUMAN
  • H0YD65_HUMAN
  • H0YE42_HUMAN
  • Q6FHS1_HUMAN
genes like me logo Genes that share paralogs with CTSF: view

Variants for CTSF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTSF Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1034023 Pathogenic: Ceroid lipofuscinosis, neuronal, 13 66,568,322(-) AG/A
NM_003793.4(CTSF):c.164del (p.Ala55fs)
FRAMESHIFT
1034024 Pathogenic: Ceroid lipofuscinosis, neuronal, 13 66,567,259(-) A/T
NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter)
NONSENSE
935571 Uncertain Significance: Ceroid lipofuscinosis, neuronal, 13 66,565,840(-) A/C
NM_003793.4(CTSF):c.955T>G (p.Ser319Ala)
MISSENSE
987064 Pathogenic: not provided 66,568,076(-) G/GC
NM_003793.4(CTSF):c.219_220insG (p.Gln74fs)
FRAMESHIFT
987065 Pathogenic: not provided 66,568,077(-) A/AGGG
NM_003793.4(CTSF):c.218_219insCCC (p.Gln74_Gly75insPro)
INFRAME_INSERTION

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CTSF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CTSF Gene

Variant ID Type Subtype PubMed ID
nsv522277 CNV loss 19592680

Variation tolerance for CTSF Gene

Residual Variation Intolerance Score: 36.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTSF Gene

Human Gene Mutation Database (HGMD)
CTSF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTSF
Leiden Open Variation Database (LOVD)
CTSF

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTSF Gene

Disorders for CTSF Gene

MalaCards: The human disease database

(15) MalaCards diseases for CTSF Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 13
  • cln13
adult neuronal ceroid lipofuscinosis
  • adult ncl
seizure disorder
  • seizures
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
- elite association - COSMIC cancer census association via MalaCards
Search CTSF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CATF_HUMAN
  • Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362]: A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. {ECO:0000269 PubMed:23297359}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CTSF

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CTSF: view

No data available for Genatlas for CTSF Gene

Publications for CTSF Gene

  1. Molecular cloning and structural and functional characterization of human cathepsin F, a new cysteine proteinase of the papain family with a long propeptide domain. (PMID: 10318784) Santamaría I … López-Otín C (The Journal of biological chemistry 1999) 2 3 4 22
  2. Human cathepsin F. Molecular cloning, functional expression, tissue localization, and enzymatic characterization. (PMID: 9822672) Wang B … Brömme D (The Journal of biological chemistry 1998) 2 3 4 22
  3. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. (PMID: 23297359) Smith KR … Bahlo M (Human molecular genetics 2013) 3 4 72
  4. Human cathepsins F and W: A new subgroup of cathepsins. (PMID: 10362521) Wex T … Brömme D (Biochemical and biophysical research communications 1999) 3 4 22
  5. The human cathepsin F gene--a fusion product between an ancestral cathepsin and cystatin gene. (PMID: 10661872) Wex T … Brömme D (Biological chemistry 1999) 3 4 22

Products for CTSF Gene

Sources for CTSF Gene