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CTSB cathepsin B [ Homo sapiens (human) ]

Gene ID: 1508, updated on 1-Jun-2020

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. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Nov 2015]
Expression
Broad expression in thyroid (RPKM 602.1), appendix (RPKM 198.7) and 21 other tissues See more
Orthologs

Genomic context

See CTSB in Genome Data Viewer
Location:
8p23.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (11842524..11868118, 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 Sharpr-MPRA regulatory region 11637 Neighboring gene farnesyl-diphosphate farnesyltransferase 1 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
collagen binding IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
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 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proteoglycan binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis involved in cellular protein catabolic process IBA
Inferred from Biological aspect of Ancestor
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
 
thyroid hormone generation 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
 
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
endolysosome lumen TAS
Traceable Author Statement
more info
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
intracellular TAS
Traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
melanosome 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 

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_001899.1
NP_680090.1
NP_680091.1
NP_680092.1
NP_680093.1
XP_006716307.1
XP_006716308.1
XP_011542114.1
XP_016868586.1
XP_016868588.1
XP_016868589.1
XP_016868590.1
XP_024302839.1

NCBI Reference Sequences (RefSeq)

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
    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_001908.5NP_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) 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/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
  3. 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
    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_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, ENST00000345125.7
    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_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
    ENSP00000432244.1, ENST00000533455.5
    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_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
    ENSP00000409917.2, ENST00000453527.6
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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..11868118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013097.2XP_016868586.1  cathepsin B isoform X1

    UniProtKB/Swiss-Prot
    P07858
    UniProtKB/TrEMBL
    A0A024R374
    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
  2. XM_006716244.3XP_006716307.1  cathepsin B isoform X1

    See identical proteins and their annotated locations for XP_006716307.1

    UniProtKB/Swiss-Prot
    P07858
    UniProtKB/TrEMBL
    A0A024R374
    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. XM_017013100.2XP_016868589.1  cathepsin B isoform X1

    UniProtKB/Swiss-Prot
    P07858
    UniProtKB/TrEMBL
    A0A024R374
    Related
    ENSP00000434217.1, ENST00000534510.5
    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. XM_017013099.2XP_016868588.1  cathepsin B isoform X1

    UniProtKB/Swiss-Prot
    P07858
    UniProtKB/TrEMBL
    A0A024R374
    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. XM_011543812.3XP_011542114.1  cathepsin B isoform X1

    See identical proteins and their annotated locations for XP_011542114.1

    UniProtKB/Swiss-Prot
    P07858
    UniProtKB/TrEMBL
    A0A024R374
    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. XM_024447071.1XP_024302839.1  cathepsin B isoform X1

    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. XM_006716245.3XP_006716308.1  cathepsin B isoform X1

    See identical proteins and their annotated locations for XP_006716308.1

    UniProtKB/Swiss-Prot
    P07858
    UniProtKB/TrEMBL
    A0A024R374
    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. XM_017013101.2XP_016868590.1  cathepsin B isoform X2

    UniProtKB/TrEMBL
    B4DMY4
    Conserved Domains (1) summary
    cd02620
    Location:11234
    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 ...

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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