Biomarker: MIB-1

Histology type: endometrial carcinoma

Country: USA

Region: Indiana

Followed up time :

Subgroup 1 name : <33% positive nuclear area

Subgroup 1 number: 96

Subgroup 2 name: >33% positive nuclear area

Subgroup 2 number: 51

Conclusion: In this series of 147 consecutive patients with endometrial carcinoma, the monoclonal antibody MIB-1 was shown to be an independent prognostic indicator of 5-year survival. This follow-up further validates the previous work regarding the significance and potential usefulness of MIB-1 as a prognostic indicator.

Sample type : tissue

Sample method: the MIB-1 monoclonal antibody

Expression pattern : MIB-1-positive nuclear area imaging >33%

Expression elevation: Mean MIB-1 staining percentage positive nuclear area

Statictics: Median;Range

Cohort age: 69;37–92

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)

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

Note2: A number sign (#) is used with this entry because of evidence that left ventricular noncompaction-7 (LVNC7) is caused by heterozygous mutation in the MIB1 gene (608677) on chromosome 18q11. For a general phenotypic description and a discussion of genetic heterogeneity of LVNC, see 604169.

OMIM: 608677;615092;

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

OMIM link2: https://www.omim.org/entry/608677

Phenotype: Left ventricular noncompaction 7

HGNC ID: HGNC:21086

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