Biomarker: Cathepsin-B

Histology type: endometrial carcinoma

Country: Greece

Region: Athens

Followed up time :

Subgroup 1 name : positive

Subgroup 1 number: 27

Subgroup 2 name: negative

Subgroup 2 number: 37

Conclusion: Increased Cathepsin-B expression was found to be predictive of more aggressive tumour behaviour over time and can be regarded as an unfavourable and independent tumour marker for endometrial cancer patients with a long follow-up.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : expression

Expression elevation: The immunoreactivity intensity was evaluated as absent; very fine, diffuse cytoplasmic staining from the cytoplasm towards the cell membrane (+); moderate cytoplasmic staining of intermediate level (++); more coarse cytoplasmic staining that stains the cell membrane and parts of the extra-cellular area (+++). Reproducibility of the scoring method used by both observers was greater than 95%. For each slide, a value designated HSCORE was obtained by application of the following algorithm: HSCORE =Σ[(i+ 1) × PC], where i and PC represent intensity and percentage of cells that stain at each intensity, respectively

Funtion Uniprot: Thiol protease which is believed to participate in intracellular degradation and turnover of proteins (PubMed:12220505). Cleaves matrix extracellular phosphoglycoprotein MEPE (PubMed:12220505). Involved in the solubilization of cross-linked TG/thyroglobulin in the thyroid follicle lumen (By similarity). Has also been implicated in tumor invasion and metastasis (PubMed:3972105).

UniProt ID: P07858

UniProt Link: https://www.uniprot.org/uniprotkb/P07858/entry

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed in the stratum spinosum of the epidermis. Weak expression is detected in the stratum granulosum.

Subcellular UniProt: #Cell membrane #Lysosome #Membrane #Secreted

Alternative name from UniProt:

Cleaved: Cleaved into 2 chains Cathepsin B light chain Cathepsin B heavy chain

Catalytic activity: Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.

Recommended name: Cathepsin B

Gene name from HGNC: CTSB

HPA class: Cancer-related genes Candidate cardiovascular disease genes Disease related genes Enzymes Human disease related genes Metabolic proteins Plasma proteins Potential drug targets

AlphaFold DB: P07858

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P07858

HPA link: https://www.proteinatlas.org/ENSG00000164733-CTSB

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: General granular cytoplasmic expression.

Single cell type specificity Cell type enhanced (Hofbauer cells, Kupffer cells, Macrophages)

Immune cell specificity: Group enriched (classical monocyte, intermediate monocyte, plasmacytoid DC, basophil, non-classical monocyte, myeloid DC)

Subcellular summary HPA Located in Nucleoli, Vesicles (Single cell variability)

Cancer prognostic summary HPA Prognostic marker in thyroid cancer (favorable) and urothelial cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000164733-CTSB/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000164733-CTSB/pathology/endometrial+cancer

Phenotype ID: 148370

Disease: Keratolytic winter erythema (KWE)

Note1: The gene represented in this entry is involved in disease pathogenesis. Tandem duplications in a non-coding genomic region containing an active enhancer element for CTSB result in CTSB abnormal expression with pathological consequences

Note2: A number sign (#) is used with this entry because of evidence that keratolytic winter erythema (KWE) is caused by heterozygous duplication in a cis-acting regulatory element enhancer upstream of the CTSB gene (116810) on chromosome 8p23.

OMIM: 116810;148370;

OMIM link1: https://www.omim.org/entry/148370

OMIM link2: https://www.omim.org/entry/116810;https://www.omim.org/entry/148370;

Phenotype: KERATOLYTIC WINTER ERYTHEMA

HGNC ID: HGNC:2527

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2527