Biomarker: HDAC8

Histology type: rare type

Region: Belgium

Study type: retrospective study

Followed up time :

Subgroup 1 name : Positive in HCL

Subgroup 1 number: 8

Subgroup 2 name: Negative in HCL

Subgroup 2 number: 1

Conclusion: 1) HDAC8 seems to be a specific marker of SM differentiation because conventional ESTs and ESTs with sex-cord differentiation are negative for HDAC8, whereas areas of smooth muscle differentiation in these tumors are consistently positive; 2) HDAC8 gives similar results to those obtained with desmin, h-caldesmon, and smooth muscle myosin in both LMs and LMSs, although the staining for HDAC8 in LMSs tends to be less intense; 3) HDAC8 may be a more sensitive marker than desmin and h-caldesmon in epithelioid SMTs. Thus, HDAC8 detection may be useful in helping the differential diagnosis of uterine mesenchymal tumors.

Sample type : tissue

Sample method: immunohistochemistry,Western blot analysis

Expression pattern : expression

Expression elevation: The intensity of staining was semi-quantitatively scored as weak, moderate, or strong (1+, 2+, and 3+, respectively). The extent of positivity within each tumor was evaluated as a percentage. Cases were considered negative when less than 5% of the tumor cells were immunoreactive

Funtion Uniprot: Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:10748112, PubMed:10922473, PubMed:10926844, PubMed:14701748, PubMed:28497810). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events (PubMed:10748112, PubMed:10922473, PubMed:10926844, PubMed:14701748). Histone deacetylases act via the formation of large multiprotein complexes (PubMed:10748112, PubMed:10922473, PubMed:10926844, PubMed:14701748). Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin (PubMed:22885700). May play a role in smooth muscle cell contractility (PubMed:15772115). In addition to protein deacetylase activity, also has protein-lysine deacylase activity: acts as a protein decrotonylase by mediating decrotonylation ((2E)-butenoyl) of histones (PubMed:28497810).

UniProt ID: Q9BY41

UniProt Link: https://www.uniprot.org/uniprotkb/Q9BY41/entry

Biological function from UniProt: #Transcription #Transcription regulation

Molecular function from UniProt:

Tissue specificity from UniProt: Weakly expressed in most tissues. Expressed at higher level in heart, brain, kidney and pancreas and also in liver, lung, placenta, prostate and kidney.

Subcellular UniProt: #Chromosome #Cytoplasm #Nucleus

Alternative name from UniProt:

Catalytic activity: H2O + N6-acetyl-L-lysyl-[histone] = acetate + L-lysyl-[histone];This reaction proceeds in the forward direction.H2O + N6-acetyl-L-lysyl-[protein] = acetate + L-lysyl-[protein] This reaction proceeds in the forward direction;H2O + N6-(2E)-butenoyl-L-lysyl-[protein] = (2E)-2-butenoate + L-lysyl-[protein] This reaction proceeds in the forward direction.;

Activity regulation: Its activity is inhibited by trichostatin A (TSA), suberoylanilide hydroxamic acid (SAHA), 3-(1-methyl-4-phenylacetyl-1H-2-pyrrolyl)-N-hydroxy-2-propenamide (APHA), 4-dimethylamino-N-(6-hydroxycarbamoyethyl)benzamide-N-hydroxy-7-(4-dimethylaminobenzoyl)aminoheptanamide (MS-344), 5-(4-methyl-benzoylamino)-biphenyl-3,4'-dicarboxylic acid 3-dimethylamide 4'-hydroxyamide (CRA-A) and butyrate.

Recommended name: Histone deacetylase 8

Gene name from HGNC: HDAC8 (HDACL1, KDAC8, MRXS6, RPD3, WTS)

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

AlphaFold DB: Q9BY41

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q9BY41

HPA link: https://www.proteinatlas.org/ENSG00000147099-HDAC8

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: General nuclear expression.

Single cell type specificity Cell type enhanced (Inhibitory neurons, Excitatory neurons, Oligodendrocyte precursor cells, Oligodendrocytes, Microglial cells, Astrocytes)

Immune cell specificity: Low immune cell specificity

Cancer prognostic summary HPA Gene product is not prognostic

Pathology link: https://www.proteinatlas.org/ENSG00000147099-HDAC8/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000147099-HDAC8/pathology/endometrial+cancer

Phenotype ID: 300882

Disease: Cornelia de Lange syndrome 5 (CDLS5) 2 Publications

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

OMIM: 300269

OMIM link1: https://www.omim.org/entry/300882

OMIM link2: https://www.omim.org/entry/300269

HGNC ID: HGNC:13315

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13315