Biomarker: HDACs 6

Histology type: endometrial stromal tumor

Stage: low grade

Country: Korea

Region: Angyang

Followed up time :

Conclusion: HDACs 1, 4, 6, 7, and 8, that showed an especially high frequency of strong immunoreactivity, may represent potential therapeutic targets for ESS.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : strong positive(181-300 was strongly positive (3+).percentage of the total width that was stained was then multiplied to yield the total score;)

Expression elevation: A semi-quantitative scoring system was used to determine the immunostaining intensity (categorized as 0, 1, 2, or 3). The percentage of the total width that was stained was then multiplied to yield the total score; 0-20 points was considered to be negative, 21-80 was weakly positive (1+), 81-180 was moderately positive (2+), and 181-300 was strongly positive (3+).

Statictics: Median;Range

Cohort age: 46;23-64

Funtion Uniprot: Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:10220385). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events (PubMed:10220385). Histone deacetylases act via the formation of large multiprotein complexes (PubMed:10220385). In addition to histones, deacetylates other proteins: plays a central role in microtubule-dependent cell motility by mediating deacetylation of tubulin (PubMed:12024216, PubMed:20308065). Promotes deacetylation of CTTN, leading to actin polymerization, promotion of autophagosome-lysosome fusion and completion of autophagy (PubMed:30538141). Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer (PubMed:24413532). In addition to its protein deacetylase activity, plays a key role in the degradation of misfolded proteins: when misfolded proteins are too abundant to be degraded by the chaperone refolding system and the ubiquitin-proteasome, mediates the transport of misfolded proteins to a cytoplasmic juxtanuclear structure called aggresome (PubMed:17846173). Probably acts as an adapter that recognizes polyubiquitinated misfolded proteins and target them to the aggresome, facilitating their clearance by autophagy (PubMed:17846173).

UniProt ID: Q9UBN7

UniProt Link: https://www.uniprot.org/uniprotkb/Q9UBN7/entry

Biological function from UniProt: #Autophagy #Transcription #Transcription regulation

Molecular function from UniProt:

Subcellular UniProt: #Cell projection #Cytoplasm #Cytoskeleton #Nucleus

Alternative name from UniProt:

Catalytic activity: H2O + N6-acetyl-L-lysyl-[histone] = acetate + L-lysyl-[histone]，H2O + N6-acetyl-L-lysyl-[alpha-tubulin] = acetate + L-lysyl-[alpha-tubulin]

Recommended name: Histone deacetylase 6

Gene name from HGNC: HDAC6 (FLJ16239, HD6, JM21, KIAA0901, PPP1R90)

HPA class: Disease related genes Enzymes FDA approved drug targets Human disease related genes

AlphaFold DB: Q9UBN7

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q9UBN7

HPA link: https://www.proteinatlas.org/ENSG00000094631-HDAC6

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: Cytoplasmic expression in most cell types, most abundant in renal tubules and cells in seminiferous ducts.

Single cell type specificity Spermatocytes & Spermatogonia - Spermatogenesis (mainly)

Immune cell specificity: Low immune cell specificity

Subcellular summary HPA Located in Nucleoplasm

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

Pathology link: https://www.proteinatlas.org/ENSG00000094631-HDAC6/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000094631-HDAC6/pathology/endometrial+cancer

Expression figure legend: Strong expression (3+) of histone deacetylase (HDACs) in endometrial stromal sarcoma. Images were provided by the Department of Pathology, Asan Medical Center (magnification ×200).

Expression figure link: https://ar.iiarjournals.org/content/anticanres/36/5/2527/F1.large.jpg

Survival figure legend: Disease-free survival based on the intensity of immunoreactivity (Semi-quantitative scoring system) for histone deacetylase (HDAC) 1, 4, 6, 7, and 8 in endometrial stromal sarcoma.

Survival curve link: https://ar.iiarjournals.org/content/anticanres/36/5/2527/F2.large.jpg

Phenotype ID: 300863

Disease: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (CDP-PBHM)

Note1: The disease is caused by variants affecting the gene represented in this entry.

OMIM: 300272

OMIM link1: https://www.omim.org/entry/300863

OMIM link2: https://www.omim.org/entry/300272

HGNC ID: HGNC:14064

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14064