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Aliases for CTSF Gene

Aliases for CTSF Gene

  • Cathepsin F 2 3 5
  • EC 3.4.22.41 4 56
  • CATSF 3 4
  • EC 3.4.22 56
  • CLN13 3

External Ids for CTSF Gene

Previous GeneCards Identifiers for CTSF Gene

  • GC11M068865
  • GC11M068012
  • GC11M066580
  • GC11M066106
  • GC11M066088
  • GC11M066332
  • GC11M062658
  • GC11M066568
  • GC11M066570
  • GC11M066571
  • GC11M066572
  • GC11M066574
  • GC11M066579
  • GC11M066582

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 Neuronal Ceroid Lipofuscinosis. Among its related pathways are Innate Immune System and MHC class II antigen presentation. 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 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

Additional gene information for CTSF Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTSF Gene

Genomics for CTSF Gene

GeneHancer (GH) Regulatory Elements for CTSF Gene

Promoters and enhancers for CTSF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I066567 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 578.4 -0.8 -809 3.4 HDAC1 FOXA2 CLOCK ATF1 RB1 EGR1 ATF7 RXRA USF2 ZNF592 CTSF ACTN3 DPP3 PIR41584
GH11I065609 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.8 +954.8 954842 8.5 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 MAP3K11 PCNX3 CTSF LOC105369352 EIF1AD ENSG00000254461 SIPA1 RNASEH2C SSSCA1 BBS1
GH11I065851 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.8 +711.4 711357 12.2 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MUS81 CFL1 EIF1AD POLA2 PCNX3 SART1 ENSG00000258297 ZFPL1 RBM14 RBM4
GH11I066342 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.7 +220.3 220296 11.8 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 LOC102724064 B4GAT1 BRMS1 TRS-GCT3-1 RIN1 ENSG00000258297 RBM14 LOC105369352 ACTN3 RBM4
GH11I066437 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.5 +130.0 130046 1.8 HDGF FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 MRPL11 RELA PCNX3 RBM4 CTSF KDM2A EIF1AD MUS81 RBM14 RAB1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CTSF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTSF gene promoter:

Genomic Locations for CTSF Gene

Genomic Locations for CTSF Gene
chr11:66,563,463-66,568,841
(GRCh38/hg38)
Size:
5,379 bases
Orientation:
Minus strand
chr11:66,330,934-66,336,312
(GRCh37/hg19)

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 posLast=160160, posLast=195195, posLast=367367, posLast=378378, and Asn440

Other Protein References for CTSF Gene

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
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CTSF Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
cysteine proteinase,papain family,cathepsin F,widely expressed,involved in degradative processes during tumor progression,subgroup F-like protease
UniProtKB/Swiss-Prot CatalyticActivity:
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.
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.

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 --
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:

miRNA for CTSF Gene

miRTarBase miRNAs that target CTSF

Clone Products

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
cytosol 3
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Vesicles (2)
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 --
GO:0005764 lysosome TAS 9822672
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome HDA,IDA 18570454
GO:1903561 extracellular vesicle HDA,IDA 24769233
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

1 GeneTex pathway for CTSF Gene
2 KEGG pathways 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 --
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-Arginine-Alanine-Methyl Ketone Experimental Pharma Target 0
HOMOPHENYLALANINYLMETHANE 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

Transcripts for CTSF Gene

Unigene Clusters for CTSF Gene

Cathepsin F:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
CTSF

Expression for CTSF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CTSF Gene



NURSA nuclear receptor signaling pathways regulating expression of CTSF Gene:

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(4.8)
  • Liver(4.4)
  • Kidney(4.3)
  • Lung(4.3)
  • Muscle(4.3)
  • Eye(2.9)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
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 33 34
  • 98.76 (n)
dog
(Canis familiaris)
Mammalia CTSF 33 34
  • 86.98 (n)
cow
(Bos Taurus)
Mammalia CTSF 33 34
  • 86.33 (n)
mouse
(Mus musculus)
Mammalia Ctsf 33 16 34
  • 82.8 (n)
rat
(Rattus norvegicus)
Mammalia Ctsf 33
  • 82.39 (n)
oppossum
(Monodelphis domestica)
Mammalia CTSF 34
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 30 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsf 33
  • 65.48 (n)
zebrafish
(Danio rerio)
Actinopterygii ctsf 33 34
  • 56.87 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12546 33
fruit fly
(Drosophila melanogaster)
Insecta CG12163 35 34
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea tag-196 33 34
  • 52.35 (n)
F41E6.6 35
  • 45 (a)
R07E3.1 35
  • 35 (a)
R09F10.1 35
  • 34 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G54940 33
  • 48.33 (n)
rice
(Oryza sativa)
Liliopsida Os07g0480900 33
  • 53.58 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4417 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2594 34
  • 63 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1645 33
Species where no ortholog for CTSF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for CTSF Gene

Paralogs for CTSF Gene

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

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

Variants for CTSF Gene

Sequence variations from dbSNP and Humsavar for CTSF Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs143889283 pathogenic, Ceroid lipofuscinosis, neuronal, 13, Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362] 66,566,320(-) T/C coding_sequence_variant, missense_variant
rs397514731 pathogenic, Ceroid lipofuscinosis, neuronal, 13, Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362] 66,565,833(-) T/C coding_sequence_variant, missense_variant
rs397514732 pathogenic, Ceroid lipofuscinosis, neuronal, 13, Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362] 66,564,095(-) C/G/T coding_sequence_variant, missense_variant
rs397514733 pathogenic, Ceroid lipofuscinosis, neuronal, 13, Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362] 66,563,949(-) G/A coding_sequence_variant, missense_variant
rs753084727 pathogenic, Ceroid lipofuscinosis, neuronal, 13 66,565,841(-) G/ coding_sequence_variant, frameshift

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

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

Disorders for CTSF Gene

MalaCards: The human disease database

(8) MalaCards diseases for CTSF Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 13
  • cln13
neuronal ceroid lipofuscinosis
  • batten disease
akinetic mutism
  • coma vigilans
ceroid lipofuscinosis, neuronal, 11
  • cln11
clonorchiasis
  • oriental liver fluke disease
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for CTSF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  3. 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 58
  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 58
  5. Full-length cDNA of human cathepsin F predicts the presence of a cystatin domain at the N-terminus of the cysteine protease zymogen. (PMID: 10198209) Nägler DK … Ménard R (Biochemical and biophysical research communications 1999) 3 4 22 58

Products for CTSF Gene

Sources for CTSF Gene

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