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Aliases for CTSF Gene

Aliases for CTSF Gene

  • Cathepsin F 2 3 5
  • EC 3.4.22.41 4 61
  • CATSF 3 4
  • EC 3.4.22 61
  • 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

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, Kufs Type and Neuronal Ceroid-Lipofuscinoses. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. 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

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

Genomics for CTSF Gene

Regulatory Elements for CTSF Gene

Enhancers for CTSF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G066342 1.8 FANTOM5 ENCODE dbSUPER 18.7 +220.3 220297 11.8 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 RIN1 EIF1AD ENSG00000258297 ACTN3 RAD9A RBM14 KAT5 ENSG00000255320 LOC105369352 CTSF
GH11G066567 1.1 ENCODE 28.3 -0.8 -809 3.4 HDGF PKNOX1 FOXA2 CREB3L1 MLX AGO1 ARID4B SIN3A DMAP1 ZBTB7B ACTN3 CTSF DPP3 PIR41584
GH11G066880 1.4 Ensembl ENCODE dbSUPER 14.6 -313.7 -313705 3.7 PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZNF143 FOS ZNF263 REST ZNF579 C11orf80 ACTN3 CTSF RAD9A RCE1 LRFN4 PC RNU7-23P RHOD LOC100505504
GH11G066903 1.5 Ensembl ENCODE dbSUPER 13.5 -337.8 -337792 5.6 FOXA2 ARID4B DMAP1 YY1 FOS SP5 NFYC PPARG ZNF623 MAFF PC C11orf80 RHOD ACTN3 CTSF RIN1 C11orf86 LRFN4 SYT12 LOC100505504
GH11G065609 1.7 FANTOM5 ENCODE dbSUPER 11.8 +954.8 954843 8.5 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 MAP3K11 SIPA1 RNASEH2C CTSF LOC105369352 EIF1AD MRPL11 ZFPL1 SNX32 CTSW
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CTSF on UCSC Golden Path with GeneCards custom track

Promoters for CTSF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040984 341 601 HDAC1 HDGF CBX3 RB1 CREB3L1 FUS AGO1 KLF17 SIN3A ZNF48

Genomic Location for CTSF Gene

Chromosome:
11
Start:
66,563,463 bp from pter
End:
66,568,841 bp from pter
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, isoforms=378, and Asn440
  • Modification sites at PhosphoSitePlus

Other Protein References for CTSF Gene

Domains & Families for CTSF Gene

Gene Families for CTSF Gene

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

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:

Animal Model Products

  • Taconic Biosciences Mouse Models for CTSF

miRNA for CTSF Gene

miRTarBase miRNAs that target CTSF

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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 IDA 18570454
GO:1903561 extracellular vesicle 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 TAS,IEA 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
BENZOYL-TYROSINE-ALANINE-METHYL KETONE 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

Transcripts for CTSF Gene

Unigene Clusters for CTSF Gene

Cathepsin F:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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)
  • Muscle(4.4)
  • Kidney(4.3)
  • Lung(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

Primer Products

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 34 35
  • 98.76 (n)
dog
(Canis familiaris)
Mammalia CTSF 34 35
  • 86.98 (n)
cow
(Bos Taurus)
Mammalia CTSF 34 35
  • 86.33 (n)
mouse
(Mus musculus)
Mammalia Ctsf 34 16 35
  • 82.8 (n)
rat
(Rattus norvegicus)
Mammalia Ctsf 34
  • 82.39 (n)
oppossum
(Monodelphis domestica)
Mammalia CTSF 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 30 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsf 34
  • 65.48 (n)
zebrafish
(Danio rerio)
Actinopterygii ctsf 34 35
  • 56.87 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12546 34
fruit fly
(Drosophila melanogaster)
Insecta CG12163 36 35
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea tag-196 34 35
  • 52.35 (n)
F41E6.6 36
  • 45 (a)
R07E3.1 36
  • 35 (a)
R09F10.1 36
  • 34 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G54940 34
  • 48.33 (n)
rice
(Oryza sativa)
Liliopsida Os07g0480900 34
  • 53.58 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4417 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2594 35
  • 63 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1645 34
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 Sequence Context AA Info Type
rs143889283 Pathogenic, Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362] 66,566,320(+) CTCCA(C/T)ACTGA reference, missense
rs397514731 Pathogenic, Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362] 66,565,833(-) TGAAC(A/G)GGGTG reference, missense
rs397514732 Pathogenic, Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362] 66,564,095(-) CTGGG(C/G)TGAGA reference, missense
rs397514733 Pathogenic, Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362] 66,563,949(-) CAGCT(C/T)GGCGG reference, missense
rs753084727 Pathogenic 66,565,841(+) TCAGA(-/G)AGGGA reference, frameshift-variant

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)

Relevant External Links 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

(7) MalaCards diseases for CTSF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 13, kufs type
  • ceroid lipofuscinosis, neuronal, 13
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
akinetic mutism
  • coma vigilans
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
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.

Relevant External Links for CTSF

Genetic Association Database (GAD)
CTSF
Human Genome Epidemiology (HuGE) Navigator
CTSF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTSF
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) Santamaria I. … Lopez-Otin C. (J. Biol. Chem. 1999) 2 3 4 22 64
  2. Human cathepsin F. Molecular cloning, functional expression, tissue localization, and enzymatic characterization. (PMID: 9822672) Wang B. … Broemme D. (J. Biol. Chem. 1998) 2 3 4 22 64
  3. 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) Naegler D.K. … Menard R. (Biochem. Biophys. Res. Commun. 1999) 3 4 22 64
  4. Human cathepsins F and W: a new subgroup of cathepsins. (PMID: 10362521) Wex T. … Bromme D. (Biochem. Biophys. Res. Commun. 1999) 3 4 22 64
  5. The human cathepsin F gene -- a fusion product between an ancestral cathepsin and cystatin gene. (PMID: 10661872) Wex T. … Broemme D. (Biol. Chem. 1999) 3 4 22 64

Products for CTSF Gene

Sources for CTSF Gene

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