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    CTSB cathepsin B [ Homo sapiens (human) ]

    Gene ID: 1508, updated on 7-Feb-2016
    Official Symbol
    CTSBprovided by HGNC
    Official Full Name
    cathepsin Bprovided by HGNC
    Primary source
    HGNC:HGNC:2527
    See related
    Ensembl:ENSG00000164733; HPRD:00287; MIM:116810; Vega:OTTHUMG00000090799
    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
    APPS; CPSB
    Summary
    This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Nov 2015]
    Orthologs
    See CTSB in Epigenomics, MapViewer
    Location:
    8p22
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (11842524..11868137, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11700033..11725646, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379243 Neighboring gene SUB1 homolog, transcriptional regulator pseudogene 1 Neighboring gene farnesyl-diphosphate farnesyltransferase 1 Neighboring gene olfactory receptor family 7 subfamily E member 158 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 161 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-02-08)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-02-08)

    ClinGen Genome Curation Page

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of cathepsin B (CTSB) in human B cells PubMed
    env HIV-1 gp120-treated vaginal epithelial cells show downregulation of cathepsin B (CTSB) expression as compared to untreated control PubMed
    Pr55(Gag) gag Macrophages and HEK293T cells deficient in cathepsin B (CTSB) fail to release HIV-1 Gag pseudoparticles into the extracellular environment PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of cathepsin B (CTSB) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing and presentation, organism-specific biosystem (from KEGG)
      Antigen processing and presentation, organism-specific biosystem
      Antigen processing and presentation
    • Antigen processing and presentation, conserved biosystem (from KEGG)
      Antigen processing and presentation, conserved biosystem
      Antigen processing and presentation
    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • Collagen degradation, organism-specific biosystem (from REACTOME)
      Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
      MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
    • Renin secretion, organism-specific biosystem (from KEGG)
      Renin secretion, organism-specific biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
    • Renin secretion, conserved biosystem (from KEGG)
      Renin secretion, conserved biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
    • Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
      Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...
    • Trafficking and processing of endosomal TLR, organism-specific biosystem (from REACTOME)
      Trafficking and processing of endosomal TLR, organism-specific biosystemMammalian TLR3, TLR7, TLR8, TLR9 are endosomal receptors that sense nucleic acids that have been released from endocytosed/phagocytosed bacteria, viruses or parasites. These TLRs have a ligand-recogn...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cysteine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kininogen binding IEA
    Inferred from Electronic Annotation
    more info
     
    peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein self-association IEA
    Inferred from Electronic Annotation
    more info
     
    proteoglycan binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to thyroid hormone stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    collagen catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    decidualization IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    negative regulation of cell death IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis involved in cellular protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to amine IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    response to interleukin-4 IEA
    Inferred from Electronic Annotation
    more info
     
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to wounding IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    viral entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    caveola IEA
    Inferred from Electronic Annotation
    more info
     
    endolysosome lumen TAS
    Traceable Author Statement
    more info
     
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    intracellular TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    cathepsin B
    Names
    APP secretase
    amyloid precursor protein secretase
    cathepsin B1
    cysteine protease
    NP_001899.1
    NP_680090.1
    NP_680091.1
    NP_680092.1
    NP_680093.1

    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_009217.1 RefSeqGene

      Range
      4988..30614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317237.1NP_001304166.1  cathepsin B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks an exon in its 5' coding region and uses an alternate translation start site compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AA516096, AC069185, AK130184, BX647765, DC386022
      Conserved Domains (1) summary
      cd02620
      Location:25204
      Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...
    2. NM_001908.4NP_001899.1  cathepsin B isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001899.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1). Variants 1-5 encode the same isoform (1).
      Source sequence(s)
      AA516096, AC069185, AK130184, DC386022
      Consensus CDS
      CCDS5986.1
      UniProtKB/TrEMBL
      A0A024R374
      UniProtKB/Swiss-Prot
      P07858
      Related
      ENSP00000345672, OTTHUMP00000116009, ENST00000353047, OTTHUMT00000207586
      Conserved Domains (2) summary
      pfam08127
      Location:2666
      Propeptide_C1; Peptidase family C1 propeptide
      cd02620
      Location:81328
      Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...
    3. NM_147780.3NP_680090.1  cathepsin B isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_680090.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same isoform (1).
      Source sequence(s)
      AA516096, AC069185, AK130184, BG770805, DC386022
      Consensus CDS
      CCDS5986.1
      UniProtKB/TrEMBL
      A0A024R374
      UniProtKB/Swiss-Prot
      P07858
      Conserved Domains (2) summary
      pfam08127
      Location:2666
      Propeptide_C1; Peptidase family C1 propeptide
      cd02620
      Location:81328
      Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...
    4. NM_147781.3NP_680091.1  cathepsin B isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_680091.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same isoform (1).
      Source sequence(s)
      AA516096, AC069185, AK130184, AL543654, DC386022
      Consensus CDS
      CCDS5986.1
      UniProtKB/TrEMBL
      A0A024R374
      UniProtKB/Swiss-Prot
      P07858
      Conserved Domains (2) summary
      pfam08127
      Location:2666
      Propeptide_C1; Peptidase family C1 propeptide
      cd02620
      Location:81328
      Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...
    5. NM_147782.3NP_680092.1  cathepsin B isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_680092.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same isoform (1).
      Source sequence(s)
      AA516096, AC069185, AK130184, BG770805, DC386022
      Consensus CDS
      CCDS5986.1
      UniProtKB/TrEMBL
      A0A024R374
      UniProtKB/Swiss-Prot
      P07858
      Conserved Domains (2) summary
      pfam08127
      Location:2666
      Propeptide_C1; Peptidase family C1 propeptide
      cd02620
      Location:81328
      Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...
    6. NM_147783.3NP_680093.1  cathepsin B isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_680093.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same isoform (1).
      Source sequence(s)
      AA516096, AC069185, AK092070, AK130184, DC386022
      Consensus CDS
      CCDS5986.1
      UniProtKB/TrEMBL
      A0A024R374
      UniProtKB/Swiss-Prot
      P07858
      Conserved Domains (2) summary
      pfam08127
      Location:2666
      Propeptide_C1; Peptidase family C1 propeptide
      cd02620
      Location:81328
      Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

      Range
      11842524..11868137 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716244.1XP_006716307.1  

      See identical proteins and their annotated locations for XP_006716307.1

      UniProtKB/TrEMBL
      A0A024R374
      UniProtKB/Swiss-Prot
      P07858
      Conserved Domains (2) summary
      pfam08127
      Location:2666
      Propeptide_C1; Peptidase family C1 propeptide
      cd02620
      Location:81328
      Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...
    2. XM_011543812.1XP_011542114.1  

      See identical proteins and their annotated locations for XP_011542114.1

      UniProtKB/TrEMBL
      A0A024R374
      UniProtKB/Swiss-Prot
      P07858
      Conserved Domains (2) summary
      pfam08127
      Location:2666
      Propeptide_C1; Peptidase family C1 propeptide
      cd02620
      Location:81328
      Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...
    3. XM_006716245.1XP_006716308.1  

      See identical proteins and their annotated locations for XP_006716308.1

      UniProtKB/TrEMBL
      A0A024R374
      UniProtKB/Swiss-Prot
      P07858
      Conserved Domains (2) summary
      pfam08127
      Location:2666
      Propeptide_C1; Peptidase family C1 propeptide
      cd02620
      Location:81328
      Peptidase_C1A_CathepsinB; Cathepsin B group; composed of cathepsin B and similar proteins, including tubulointerstitial nephritis antigen (TIN-Ag). Cathepsin B is a lysosomal papain-like cysteine peptidase which is expressed in all tissues and functions primarily as an ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      11765442..11791090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)