Biomarker: MIB1

Histology type: endometrial stromal tumor

Stage: low-grade,stage I

Country: USA

Region: NY

Study type: Case Reports

Followed up time :

Conclusion: MIB1 as a possible predictor of recurrence in low-grade endometrial stromal sarcoma of the uterus.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : positive expression

Expression elevation: MIB1 positivity (defined as a MIB1 reactivity score> 5%)

Statictics: Mean ;Range

Cohort age: 43.8;27-76

Funtion Uniprot: E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF-induced apoptosis (By similarity). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits primary cilium formation in proliferating cells. Mediates 'Lys-63'-linked polyubiquitination of TBK1, which probably participates in kinase activation

UniProt ID: Q86YT6

UniProt Link: https://www.uniprot.org/uniprotkb/Q86YT6/entry

Biological function from UniProt: #Notch signaling pathway #Ubl conjugation pathway

Molecular function from UniProt:

Tissue specificity from UniProt: Widely expressed at low level. Expressed at higher level in spinal cord, ovary, whole brain, and all specific brain regions examined.

Subcellular UniProt: #Cell membrane #Cytoplasm #Cytoskeleton #Membrane

Alternative name from UniProt:

Miscellaneous: In epilepsy brain tissue, levels of expression are increased in the cytoplasm and microsomal fractions (endoplasmic reticulum).

Catalytic activity: S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N6-ubiquitinyl-[acceptor protein]-L-lysine.

Recommended name: E3 ubiquitin-protein ligase MIB1

Gene name from HGNC: MIB1 (DIP-1, KIAA1323, MIB, ZZANK2, ZZZ6) Tissue specificityi Low tissue specificity

HPA class: Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets

AlphaFold DB: Q86YT6

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q86YT6

HPA link: https://www.proteinatlas.org/ENSG00000101752-MIB1

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: Cytoplasmic expression in many tissues.

Single cell type specificity Cell type enhanced (Oligodendrocyte precursor cells, Oligodendrocytes)

Immune cell specificity: Not detected in immune cells

Subcellular summary HPA Located in Vesicles, Plasma membrane

Cancer prognostic summary HPA Gene product is not prognostic

Pathology link: https://www.proteinatlas.org/ENSG00000101752-MIB1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000101752-MIB1/pathology/endometrial+cancer

Phenotype ID: 615092

Disease: Left ventricular non-compaction 7 (LVNC7)

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

OMIM link1: https://www.omim.org/entry/615092

HGNC ID: HGNC:21086

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21086