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CTSS cathepsin S [ Homo sapiens (human) ]

Gene ID: 1520, updated on 14-Nov-2024

Summary

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Official Symbol
CTSSprovided by HGNC
Official Full Name
cathepsin Sprovided by HGNC
Primary source
HGNC:HGNC:2545
See related
Ensembl:ENSG00000163131 MIM:116845; AllianceGenome:HGNC:2545
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
Summary
The preproprotein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that participates in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The mature protein cleaves the invariant chain of MHC class II molecules in endolysosomal compartments and enables the formation of antigen-MHC class II complexes and the proper display of extracellular antigenic peptides by MHC-II. The mature protein also functions as an elastase over a broad pH range. When secreted from cells, this protein can remodel components of the extracellular matrix such as elastin, collagen, and fibronectin. This gene is implicated in the pathology of many inflammatory and autoimmune diseases and, given its elastase activity, plays a significant role in some pulmonary diseases. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2020]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression
Broad expression in spleen (RPKM 89.0), appendix (RPKM 75.4) and 18 other tissues See more
Orthologs
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Genomic context

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See CTSS in Genome Data Viewer
Location:
1q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150730188..150765778, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149853594..149889583, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150702664..150738254, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150619341-150619842 Neighboring gene golgi phosphoprotein 3 like Neighboring gene RNA, U6 small nuclear 1042, pseudogene Neighboring gene HORMA domain containing 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150700761-150701526 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150703034 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150703366 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150707596 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150709723 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150721175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150721583-150722232 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150727539 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150728676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1699 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 1:150738197 and 1:150738200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1305 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150748803 Neighboring gene short coiled-coil protein pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150753350-150754207 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:150754208-150755064 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150766964 Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 3 Neighboring gene cathepsin K

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Potential role of CTSS in AMDImmune modulatory and anti-angiogenic effects of cathepsin S knockdown in ARPE-19 cells.
    Title: Potential role of CTSS in AMDImmune modulatory and anti-angiogenic effects of cathepsin S knockdown in ARPE-19 cells.
  2. Elevated Cathepsin S Serum Levels in New-Onset Type 1 Diabetes and Autoantibody-Positive Siblings.
    Title: Elevated Cathepsin S Serum Levels in New-Onset Type 1 Diabetes and Autoantibody-Positive Siblings.
  3. Macrophage-Derived Cathepsin S Remodels the Extracellular Matrix to Promote Liver Fibrogenesis.
    Title: Macrophage-Derived Cathepsin S Remodels the Extracellular Matrix to Promote Liver Fibrogenesis.
  4. Granulomatous rosacea in Chinese patients: Clinical-histopathological analysis and pathogenesis exploration.
    Title: Granulomatous rosacea in Chinese patients: Clinical-histopathological analysis and pathogenesis exploration.
  5. Cathepsin S Knockdown Suppresses Endothelial Inflammation, Angiogenesis, and Complement Protein Activity under Hyperglycemic Conditions In Vitro by Inhibiting NF-kappaB Signaling.
    Title: Cathepsin S Knockdown Suppresses Endothelial Inflammation, Angiogenesis, and Complement Protein Activity under Hyperglycemic Conditions In Vitro by Inhibiting NF-κB Signaling.
  6. Cathepsin S are involved in human carotid atherosclerotic disease progression, mainly by mediating phagosomes: bioinformatics and in vivo and vitro experiments.
    Title: Cathepsin S are involved in human carotid atherosclerotic disease progression, mainly by mediating phagosomes: bioinformatics and in vivo and vitro experiments.
  7. Cathepsin S (CTSS) activity in health and disease - A treasure trove of untapped clinical potential.
    Title: Cathepsin S (CTSS) activity in health and disease - A treasure trove of untapped clinical potential.
  8. Cathepsin S as an early biomarker for cardiovascular disease in chronic kidney disease patients.
    Title: Cathepsin S as an early biomarker for cardiovascular disease in chronic kidney disease patients.
  9. Knockdown of CD44 inhibits proliferation, migration and invasion of osteosarcoma cells accompanied by downregulation of cathepsin S.
    Title: Knockdown of CD44 inhibits proliferation, migration and invasion of osteosarcoma cells accompanied by downregulation of cathepsin S.
  10. Association of Circulating Cathepsin S and Cardiovascular Disease Among Patients With Type 2 Diabetes: A Cross-Sectional Community-Based Study.
    Title: Association of Circulating Cathepsin S and Cardiovascular Disease Among Patients With Type 2 Diabetes: A Cross-Sectional Community-Based Study.
Submit: New GeneRIF Correction See all GeneRIFs (135)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
EBI GWAS Catalog
Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Cathepsin S cleaves HIV-1 gp120 at positions Q208-A209 and S261-T262 (C2 domain), T322-T323 (V3 domain), and Y435-A436 (C4 domain), which is important for antigen processing and presentation PubMed
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of cathepsin S (CTSS) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3886, FLJ50259

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
  
enables cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cysteine-type endopeptidase activity TAS
Traceable Author Statement
more info
  
enables fibronectin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables laminin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables proteoglycan binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in adaptive immune response IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in antigen processing and presentation TAS
Traceable Author Statement
more info
 PubMed 
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
  
involved_in antigen processing and presentation of peptide antigen IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in basement membrane disassembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to thyroid hormone stimulus IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in collagen catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in extracellular matrix disassembly TAS
Traceable Author Statement
more info
  
involved_in positive regulation of cation channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteolysis involved in protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis involved in protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to acidic pH IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
located_in endolysosome lumen TAS
Traceable Author Statement
more info
  
located_in extracellular region NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in late endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in phagocytic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in tertiary granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
cathepsin S
NP_001186668.1
NP_004070.3

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001199739.2 → NP_001186668.1  cathepsin S isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_001186668.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, so encodes a shorter isoform (2), as compared to variant 1.
    Source sequence(s)
    AK301472, AL356292
    Consensus CDS
    CCDS55634.1
    UniProtKB/TrEMBL
    A0A7P0T904
    Related
    ENSP00000506001.1, ENST00000680288.1
    Conserved Domains (2) summary
    smart00848
    Location:28 → 83
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:82 → 279
    Peptidase_C1; Papain family cysteine protease

  2. NM_004079.5 → NP_004070.3  cathepsin S isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_004070.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes a longer isoform (1).
    Source sequence(s)
    AL356292, BC002642, M90696
    Consensus CDS
    CCDS968.1
    UniProtKB/Swiss-Prot
    B4DWC9, D3DV05, P25774, Q5T5I0, Q6FHS5, Q9BUG3
    UniProtKB/TrEMBL
    A0A7P0T844
    Related
    ENSP00000357981.3, ENST00000368985.8
    Conserved Domains (3) summary
    PTZ00203
    Location:5 → 326
    PTZ00203; cathepsin L protease; Provisional
    smart00848
    Location:28 → 87
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:115 → 329
    Peptidase_C1; Papain family cysteine protease

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    150730188..150765778 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    149853594..149889583 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P25774.3 GenPept UniProtKB/Swiss-Prot:P25774

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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