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    CTSF cathepsin F [ Homo sapiens (human) ]

    Gene ID: 8722, updated on 17-Jun-2024

    Summary

    Official Symbol
    CTSFprovided by HGNC
    Official Full Name
    cathepsin Fprovided by HGNC
    Primary source
    HGNC:HGNC:2531
    See related
    Ensembl:ENSG00000174080 MIM:603539; AllianceGenome:HGNC:2531
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CATSF; CLN13
    Summary
    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]
    Expression
    Broad expression in ovary (RPKM 64.5), testis (RPKM 55.5) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CTSF in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66563464..66568606, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66559711..66564853, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66330935..66336077, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Bardet-Biedl syndrome 1 Neighboring gene zinc finger DHHC-type containing 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66298267-66298846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66298847-66299424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66307071-66307841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5049 Neighboring gene Sharpr-MPRA regulatory region 1034 Neighboring gene actinin alpha 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66332233-66332732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3598 Neighboring gene Sharpr-MPRA regulatory region 510 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:66340443-66341194 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:66341195-66341945 Neighboring gene MPRA-validated peak1305 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66346187-66347000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66359320-66359909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66359910-66360498 Neighboring gene coiled-coil domain containing 87 Neighboring gene copper chaperone for superoxide dismutase

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Neuronal ceroid lipofuscinosis 13
    MedGen: C3715049 OMIM: 615362 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

    Preferred Names
    cathepsin F
    NP_003784.2
    XP_011543630.1
    XP_054226331.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032973.1 RefSeqGene

      Range
      4971..10113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003793.4NP_003784.2  cathepsin F precursor

      See identical proteins and their annotated locations for NP_003784.2

      Status: REVIEWED

      Source sequence(s)
      AF088886, AF136279, AL137742, AP002748, BC011682
      Consensus CDS
      CCDS8144.1
      UniProtKB/Swiss-Prot
      B2R964, O95240, Q9NSU4, Q9UBX1, Q9UKQ5
      UniProtKB/TrEMBL
      A0A7I2V2K3, H0YD65
      Related
      ENSP00000310832.5, ENST00000310325.10
      Conserved Domains (2) summary
      smart00848
      Location:187243
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:271482
      Peptidase_C1; Papain family cysteine protease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66563464..66568606 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545328.3XP_011543630.1  cathepsin F isoform X1

      UniProtKB/TrEMBL
      A0A024R5G9, E9PSC2
      Related
      ENST00000677779.1
      Conserved Domains (2) summary
      smart00848
      Location:127183
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:211422
      Peptidase_C1; Papain family cysteine protease

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66559711..66564853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370356.1XP_054226331.1  cathepsin F isoform X1

      UniProtKB/TrEMBL
      A0A024R5G9, E9PSC2