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    CTSB cathepsin B [ Homo sapiens (human) ]

    Gene ID: 1508, updated on 12-Sep-2021

    Summary

    Official Symbol
    CTSBprovided by HGNC
    Official Full Name
    cathepsin Bprovided by HGNC
    Primary source
    HGNC:HGNC:2527
    See related
    Ensembl:ENSG00000164733 MIM:116810
    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; RECEUP
    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. Both Cathepsin B and Cathepsin L are involved in the cleavage of the spike protein from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) upon its entry to the human host cell. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Sep 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
    Expression
    Broad expression in thyroid (RPKM 602.1), appendix (RPKM 198.7) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CTSB in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (11842524..11868087, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11700033..11725596, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379243 Neighboring gene Sharpr-MPRA regulatory region 11637 Neighboring gene farnesyl-diphosphate farnesyltransferase 1 Neighboring gene Sharpr-MPRA regulatory region 10233 Neighboring gene CRISPRi-validated cis-regulatory element chr8.428 Neighboring gene CRISPRi-validated cis-regulatory element chr8.429

    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
    Keratolytic winter erythema
    MedGen: C0406756 OMIM: 148370 GeneReviews: Not available
    Compare labs

    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

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection upregulates cathepsin B, cystatin B, and cystatin C in the frontal white matter of patients with HIV-Associated Neurocognitive Disorders PubMed
    HIV-1 infection in macrophages decreases Cathepsin B and MMP9 interactions PubMed
    HIV-1 infection upregulates cathepsin B (CTSB) in microglia and CHME-5 cells PubMed

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proteoglycan binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    cathepsin B
    Names
    APP secretase
    amyloid precursor protein secretase
    cathepsin B1
    cysteine protease
    epididymis secretory sperm binding protein
    NP_001304166.1
    NP_001371643.1
    NP_001371652.1
    NP_001371653.1
    NP_001371654.1
    NP_001371655.1
    NP_001371656.1
    NP_001371657.1
    NP_001899.1
    NP_680090.1
    NP_680091.1
    NP_680092.1
    NP_680093.1

    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_009217.2 RefSeqGene

      Range
      5051..30614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317237.2NP_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
      UniProtKB/TrEMBL
      Q5HYG5
      Related
      ENSP00000504808.1, ENST00000678629.1
      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_001384714.1NP_001371643.1  cathepsin B isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Both variants 1 and 7 encode the same protein.
      Source sequence(s)
      AC025857, AC069185
      Related
      ENSP00000503674.1, ENST00000678145.1
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    3. NM_001384723.1NP_001371652.1  cathepsin B isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Both variants 1 and 8 encode the same protein.
      Source sequence(s)
      AC025857, AC069185
      Related
      ENSP00000503435.1, ENST00000677819.1
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    4. NM_001384724.1NP_001371653.1  cathepsin B isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. Both variants 1 and 9 encode the same protein.
      Source sequence(s)
      AC025857, AC069185
      Related
      ENSP00000504797.1, ENST00000677650.1
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    5. NM_001384725.1NP_001371654.1  cathepsin B isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. Both variants 1 and 10 encode the same protein.
      Source sequence(s)
      AC025857, AC069185
      Related
      ENSP00000503513.1, ENST00000678357.1
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    6. NM_001384726.1NP_001371655.1  cathepsin B isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. Both variants 1 and 11 encode the same protein.
      Source sequence(s)
      AC025857, AC069185
      Related
      ENSP00000434217.1, ENST00000534510.6
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    7. NM_001384727.1NP_001371656.1  cathepsin B isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 1. Both variants 1 and 12 encode the same protein.
      Source sequence(s)
      AC025857, AC069185
      Related
      ENSP00000503174.1, ENST00000677418.1
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    8. NM_001384728.1NP_001371657.1  cathepsin B isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR compared to variant 1. Both variants 1 and 13 encode the same protein.
      Source sequence(s)
      AC025857, AC069185
      Related
      ENSP00000503487.1, ENST00000678929.1
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    9. NM_001908.5NP_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) encodes isoform (1). Variants 1-5, and 7-13 encode the same isoform (1).
      Source sequence(s)
      AA516096, AC069185, AK130184, DC386022
      Consensus CDS
      CCDS5986.1
      UniProtKB/Swiss-Prot
      P07858
      UniProtKB/TrEMBL
      A0A024R374
      Related
      ENSP00000345672.5, ENST00000353047.11
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    10. NM_147780.4NP_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/Swiss-Prot
      P07858
      UniProtKB/TrEMBL
      A0A024R374
      Related
      ENSP00000503078.1, ENST00000677544.1
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    11. NM_147781.4NP_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/Swiss-Prot
      P07858
      UniProtKB/TrEMBL
      A0A024R374
      Related
      ENSP00000342070.3, ENST00000345125.8
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    12. NM_147782.4NP_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/Swiss-Prot
      P07858
      UniProtKB/TrEMBL
      A0A024R374
      Related
      ENSP00000503280.1, ENST00000678242.1
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide
    13. NM_147783.4NP_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
      Consensus CDS
      CCDS5986.1
      UniProtKB/Swiss-Prot
      P07858
      UniProtKB/TrEMBL
      A0A024R374
      Related
      ENSP00000503858.1, ENST00000679051.1
      Conserved Domains (2) summary
      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 ...
      pfam08127
      Location:2665
      Propeptide_C1; Peptidase family C1 propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      11842524..11868087 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p13 PATCHES

      Range
      1479972..1505569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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