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CTSS cathepsin S [ Homo sapiens (human) ]

Gene ID: 1520, updated on 19-Sep-2020

Summary

Official Symbol
CTSSprovided by HGNC
Official Full Name
cathepsin Sprovided by HGNC
Primary source
HGNC:HGNC:2545
See related
Ensembl:ENSG00000163131 MIM:116845
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

Genomic context

See CTSS in Genome Data Viewer
Location:
1q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (150730188..150765778, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150702672..150738433, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene golgi phosphoprotein 3 like Neighboring gene RNA, U6 small nuclear 1042, pseudogene Neighboring gene HORMA domain containing 1 Neighboring gene short coiled-coil protein pseudogene Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 3 Neighboring gene cathepsin K

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
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
GeneReviews: Not available
Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3886, FLJ50259

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

General protein information

Preferred Names
cathepsin S
NP_001186668.1
NP_004070.3

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.

mRNA and Protein(s)

  1. NM_001199739.2NP_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/Swiss-Prot
    P25774
    Related
    ENSP00000408414.1, ENST00000448301.6
    Conserved Domains (2) summary
    smart00848
    Location:2883
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:82279
    Peptidase_C1; Papain family cysteine protease
  2. NM_004079.5NP_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
    P25774
    Related
    ENSP00000357981.3, ENST00000368985.8
    Conserved Domains (3) summary
    PTZ00203
    Location:5326
    PTZ00203; cathepsin L protease; Provisional
    smart00848
    Location:2887
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:115329
    Peptidase_C1; Papain family cysteine protease

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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