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CTSF Gene

protein-coding   GIFtS: 70
GCID: GC11M066332

Cathepsin F

  See CTSF-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cathepsin F1 2
CATSF2 3
EC 3.4.22.413 8
CLN132 5
EC 3.4.228

External Ids:    HGNC: 25311   Entrez Gene: 87222   Ensembl: ENSG000001740807   OMIM: 6035395   UniProtKB: Q9UBX13   

Export aliases for CTSF gene to outside databases

Previous GC identifers: GC11M068865 GC11M068012 GC11M066580 GC11M066106 GC11M066088 GC11M062658


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 clonorchiasis, and ceroid lipofuscinosis, neuronal, 13, kufs type. GO annotations related to this gene include cysteine-type endopeptidase activity. An important paralog of this gene is CTSO.

UniProtKB/Swiss-Prot: CATF_HUMAN, Q9UBX1
Function: 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 (Cathepsin F) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CTSF gene promoter:
         GR   USF1   Spz1   AP-1   CUTL1   CREB   deltaCREB   FOXO4   GR-alpha   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTSF promoter sequence
   Search Chromatin IP Primers for CTSF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CTSF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.2

CTSF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTSF gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M066332:  view genomic region     (about GC identifiers)

Start:
66,330,934 bp from pter      End:
66,336,312 bp from pter
Size:
5,379 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CATF_HUMAN, Q9UBX1 (See protein sequence)
Recommended Name: Cathepsin F precursor  
Size: 484 amino acids; 53366 Da
2 PDB 3D structures from and Proteopedia for CTSF:
1D5U (3D)        1M6D (3D)    
Secondary accessions: B2R964 O95240 Q9NSU4 Q9UKQ5

Explore the universe of human proteins at neXtProt for CTSF: NX_Q9UBX1

Explore proteomics data for CTSF at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn160, Asn195, Asn367, Asn378, Asn440
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for CTSF (Q9UBX1)
     CGSCWAF  FSDLTEEEF 


    See CTSF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003784.2  
    ENSEMBL proteins: 
     ENSP00000310832   ENSP00000434936   ENSP00000433082   ENSP00000435822  
    Reactome Protein details: Q9UBX1

    CTSF Human Recombinant Protein Products:

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    antibodies-online proteins for CTSF (6 products) 

     
    antibodies-online peptides for CTSF

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CTS: Cathepsins

    5 InterPro protein domains:
     IPR013128 Peptidase_C1A
     IPR000169 Pept_cys_AS
     IPR013201 Prot_inhib_I29
     IPR025660 Pept_his_AS
     IPR000668 Peptidase_C1A_C

    Graphical View of Domain Structure for InterPro Entry Q9UBX1

    ProtoNet protein and cluster: Q9UBX1

    2 Blocks protein domains:
    IPB000668 Papain cysteine protease (C1) family signature
    IPB013201 Proteinase inhibitor I29


    UniProtKB/Swiss-Prot: CATF_HUMAN, Q9UBX1
    Similarity: Belongs to the peptidase C1 family


    Find genes that share domains with CTSF           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CATF_HUMAN, Q9UBX1
    Function: Thiol protease which is believed to participate in intracellular degradation and turnover of proteins.
    Has also been implicated in tumor invasion and metastasis
    Catalytic activity: 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

         Genatlas biochemistry entry for CTSF:
    cysteine proteinase,papain family,cathepsin F,widely expressed,involved in degradative processes during tumor
    progression,subgroup F-like protease

         Enzyme Numbers (IUBMB): EC 3.4.22.411 2 EC 3.4.222

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity TAS9822672
    GO:0008234cysteine-type peptidase activity ----
         
    Find genes that share ontologies with CTSF           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CTSF:
     Decreased Hepatitis C virus re 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ctsf):
     behavior/neurological  growth/size/body  mortality/aging  nervous system 

    Find genes that share phenotypes with CTSF           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ctsftm1Hap for CTSF

       genOway: Develop your customized and physiologically relevant rodent model for CTSF

    miRNA
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    hsa-miR-3184 hsa-miR-137 hsa-miR-3065-3p hsa-miR-3065-5p hsa-miR-29c hsa-miR-29a hsa-miR-423-5p hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidCTSF 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CATF_HUMAN, Q9UBX1: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    extracellular3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome TAS9822672
    GO:0043202lysosomal lumen TAS--

    Find genes that share ontologies with CTSF           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CTSF About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    2MHC class II antigen presentation
    MHC class II antigen presentation
    3Lysosome
    Lysosome


    Find genes that share SuperPaths with CTSF           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for CTSF
        MHC class II antigen presentation


    1 Kegg Pathway  (Kegg details for CTSF):
        Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CTSF
    Interactions:

        Search GeneGlobe Interaction Network for CTSF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for CTSF (Q9UBX13 ENSP000003108324) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD74P042333, ENSP000000095304I2D: score=2 STRING: ENSP00000009530
    NCAM2O153943, ENSP000003833924I2D: score=1 STRING: ENSP00000383392
    TAF12Q165143I2D: score=2 
    CTSSENSP000003579814STRING: ENSP00000357981
    IFI30ENSP000003848864STRING: ENSP00000384886
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS9822672
    GO:0008219cell death IEA--
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    Find genes that share ontologies with CTSF           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CTSF (CATF)

    8 DrugBank Compounds for CTSF    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-Morpholin-4-Yl-Piperidine-1-Carboxylic Acid [1-(3-Benzenesulfonyl-1-Propyl-Allylcarbamoyl)-2-Phenylethyl]-Amide-- --target--17139284 17016423
    BENZOYL-TYROSINE-ALANINE-METHYL KETONE-- --target--10592235
    Benzoyl-Arginine-Alanine-Methyl Ketone-- --target--10592235
    HOMOPHENYLALANINYLMETHANE-- --target--10592235
    WRR-112-- --target--10592235
    WRR-99-- --target--10592235
    [1-(1-Benzyl-3-Hydroxy-2-Oxo-Propylcarbamoyl)-2-Phenyl-Ethyl]-Carbamic Acid Benzyl Ester-- --target--10592235
    [1-(1-Methyl-4,5-Dioxo-Pent-2-Enylcarbamoyl)-2-Phenyl-Ethyl]-Carbamic Acid Benzyl Ester-- --target--10592235

    2 Novoseek inferred chemical compound relationships for CTSF gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    divinyl sulfone 78.7 2 12225749 (1), 12454497 (1)
    cysteine 66.9 13 10318784 (4), 10198209 (3), 10661872 (1), 9822672 (1) (see all 8)



    Find genes that share compounds with CTSF           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CTSF gene: 
    NM_003793.3  

    Unigene Cluster for CTSF:

    Cathepsin F
    Hs.11590  [show with all ESTs]
    Unigene Representative Sequence: BC013359
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310325(uc001oip.3) ENST00000527141 ENST00000525733 ENST00000524994
    ENST00000530565 ENST00000529199 ENST00000529561 ENST00000533168 ENST00000526010

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    hsa-miR-3184 hsa-miR-137 hsa-miR-3065-3p hsa-miR-3065-5p hsa-miR-29c hsa-miR-29a hsa-miR-423-5p hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidCTSF 3' UTR sequence
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    Additional mRNA sequence: 

    AF071748.1 AF071749.1 AF088886.2 AF136279.1 AJ007331.1 AK313657.1 AL137742.1 BC011682.2 
    BC013359.2 BC036451.1 CR541680.1 

    6 DOTS entries:

    DT.111592  DT.100817827  DT.95281684  DT.92428022  DT.92428023  DT.95099455 

    Selected AceView cDNA sequences (see all 210):

    BU742891 AI805074 BF727319 CB269409 BQ005952 AI640362 AA321987 BQ575103 
    CR541680 BI755456 BQ575903 AI813436 AA478441 BU734302 AA937142 AA323194 
    BM723542 AL137742 AI640129 BM710498 BM712529 AI081060 BM673807 BM971582 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CTSF (see all 6)    About this scheme

    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:                                                                                            -                                       


    ECgene alternative splicing isoforms for CTSF

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CTSF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAGGAAAC
    CTSF Expression
    About this image


    CTSF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Uterus (Reproductive System)
     
     Testis (Reproductive System)
     
     Ovary (Reproductive System)
     
     Adrenal Gland (Endocrine System)
    CTSF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTSF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.11590

    UniProtKB/Swiss-Prot: CATF_HUMAN, Q9UBX1
    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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSF

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CTSF gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctsf1 , 5 cathepsin F1, 5 82.8(n)1
    79.55(a)1
      19 (4.12 cM)5
    564641  NM_019861.11  NP_063914.11 
     48551295 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ctsf1 cathepsin F 65.48(n)
    64.94(a)
      100127591  NM_001112952.1  NP_001106423.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ctsf1 cathepsin F 56.87(n)
    53.47(a)
      565588  NM_001077568.1  NP_001071036.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG121633 cathepsin F 45(a)   82F7   --
    worm
    (Caenorhabditis elegans)
    Secernentea F41E6.63
    tag-1961
    cysteine protease and a protease
    inhibitor3
    tag-1961
    45(a)
    (best of 3)3
    52.35(n)1
    49.66(a)1
      V(8597514-8599945)3
    1792401  NM_072814.31  NP_505215.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G549401 AT3G54940 48.33(n)
    46.67(a)
      824659  NM_115351.6  NP_567010.5 
    rice
    (Oryza sativa)
    Liliopsida Os07g04809001 Os07g0480900 53.58(n)
    47.44(a)
      4343231  NM_001066174.1  NP_001059639.1 


    ENSEMBL Gene Tree for CTSF (if available)
    TreeFam Gene Tree for CTSF (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CTSF gene
    CTSO2  CTSW2  CTSV2  CTSK2  CTSS2  CTSH2  CTSC2  CTSZ2  
    CTSL2  
    9 SIMAP similar genes for CTSF using alignment to 5 protein entries:     CATF_HUMAN (see all proteins):
    DKFZp686B24257    CTSW    CTSH    CTSL    CTSL1    CTSS
    CTSV    CTSO    CTSK

    Find genes that share paralogs with CTSF           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CTSF (see all 207)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0701624
    Ceroid lipofuscinosis, neuronal, 13 (CLN13)4--see VAR_0701622 S L mis40--------
    VAR_0701594
    Ceroid lipofuscinosis, neuronal, 13 (CLN13)4--see VAR_0701592 Y C mis40--------
    VAR_0701614
    Ceroid lipofuscinosis, neuronal, 13 (CLN13)4--see VAR_0701612 G A mis40--------
    VAR_0701604
    Ceroid lipofuscinosis, neuronal, 13 (CLN13)4--see VAR_0701602 Q R mis40--------
    rs1154673741,2
    C,F--66253159(+) ACAGAT/CGCAAG 1 -- int11Minor allele frequency- C:0.05WA 118
    rs46303091,2
    C,F,H--66253375(+) CCCCCC/AATTAT 1 -- int1 trp323Minor allele frequency- A:0.22NS EA NA WA CSA 2635
    rs1898620701,2
    C--66253484(+) CAAGCC/TGCCCA 2 S G mis10--------
    rs2022424981,2
    --66253574(+) TAGGCC/TGGGGA 1 -- int10--------
    rs2020500531,2
    C,F--66253577(+) GCTGGG/AGACAG 1 -- int11Minor allele frequency- A:0.00EU 593
    rs1147276601,2
    C,F--66253630(+) AGGGTC/TCCCTG 2 G syn12Minor allele frequency- T:0.01WA NA 4666

    HapMap Linkage Disequilibrium report for CTSF (66330934 - 66336312 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CTSF:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897788CNV Loss21882294
    nsv897787CNV Loss21882294
    nsv522277CNV Loss19592680
    dgv1187n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CTSF
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CTSF
    DNA2.0 Custom Variant and Variant Library Synthesis for CTSF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603539   
    OMIM disorders: 615362  
    UniProtKB/Swiss-Prot: CATF_HUMAN, Q9UBX1
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for CTSF:    
    About MalaCards
    clonorchiasis    ceroid lipofuscinosis, neuronal, 13, kufs type    neuronal ceroid-lipofuscinoses

    2 diseases from the University of Copenhagen DISEASES database for CTSF:
    Clonorchiasis     Keratopathy

    Find genes that share disorders with CTSF           About GenesLikeMe

    Genetic Association Database (GAD): CTSF
    Human Genome Epidemiology (HuGE) Navigator: CTSF (3 documents)

    Export disorders for CTSF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CTSF gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with CTSF)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10318784)1, 2, 3, 9 Santamaria I.... Lopez-Otin C. (J. Biol. Chem. 1999)
    2. Human cathepsin F. Molecular cloning, functional expression, tissue localization, and enzymatic characterization. (PubMed id 9822672)1, 2, 3, 9 Wang B.... Broemme D. (J. Biol. Chem. 1998)
    3. Human cathepsins F and W: a new subgroup of cathepsins. (PubMed id 10362521)1, 2, 9 Wex T.... Bromme D. (Biochem. Biophys. Res. Commun. 1999)
    4. Full-length cDNA of human cathepsin F predicts the presence of a cystatin domain at the N-terminus of the cysteine protease zymogen. (PubMed id 10198209)1, 2, 9 Naegler D.K.... Menard R. (Biochem. Biophys. Res. Commun. 1999)
    5. The human cathepsin F gene -- a fusion product between an ancestral cathepsin and cystatin gene. (PubMed id 10661872)1, 2, 9 Wex T.... Broemme D. (Biol. Chem. 1999)
    6. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. (PubMed id 23297359)1, 2 Smith K.R....Bahlo M. (Hum. Mol. Genet. 2013)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. (PubMed id 19416921)1, 4 Scott L.J....Boehnke M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Mouse cathepsin F: cDNA cloning, genomic organization and chromosomal assignment of the gene. (PubMed id 10876093)1, 9 Deussing J....Peters C. (Gene 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8722 HGNC: 2531 AceView: CTSF Ensembl:ENSG00000174080 euGenes: HUgn8722
    ECgene: CTSF Kegg: 8722 H-InvDB: CTSF

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CTSF Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CTSF gene:
    Search GeneIP for patents involving CTSF

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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