Biomarker: CD133

Histology type: endometrioid endometrial carcinoma

Country: Brazil

Region: Fortaleza

Study type: retrospective study

Followed up time :

Subgroup 1 name : negative expression

Subgroup 1 number: 42

Subgroup 2 name: positive expression

Subgroup 2 number: 66

Conclusion: CD133+ tumor status correlates with favorable prognosis of EEC. Our findings are in agreement with studies addressing brain and colorectal tumours.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : positive(tumours with CD133 expression in over 10% of whole tumour area were considered CD133+.)

Expression elevation: We defined positive staining as luminal surface expression of CD133 either in the middle of the tumour or at the invasive edge. At least the 50% of the surface of the cell was required to be positive to count the overall cell as positive. For practical purposes, CD133 positivity was defined on the basis of the percentage of positive cells in cancer-affected areas. For this purpose, for each patient, we took into account the mean number of CD133-expressing cells in the two samples of tumour and in the two samples from the invasive edge. Tumours with CD133 expression in over 10% of whole tumour area were considered CD133+.

Funtion Uniprot: May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439).

UniProt ID: O43490

UniProt Link: https://www.uniprot.org/uniprotkb/O43490/entry

Molecular function from UniProt:

Tissue specificity from UniProt: Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles. Isoform 2 is predominantly expressed in fetal liver, skeletal muscle, kidney, and heart as well as adult pancreas, kidney, liver, lung, and placenta. Isoform 2 is highly expressed in fetal liver, low in bone marrow, and barely detectable in peripheral blood. Isoform 2 is expressed on hematopoietic stem cells and in epidermal basal cells (at protein level). Expressed in adult retina by rod and cone photoreceptor cells (at protein level).

Subcellular UniProt: #Cell membrane #Cell projection #Cilium #Endoplasmic reticulum #Membrane

Alternative name from UniProt:

Miscellaneous: Is used as marker for hematopoietic stem and progenitor cells (HSPC) for somatic stem cell isolation.

Recommended name: Prominin-1

Gene name from HGNC: PROM1 (AC133, CD133, CORD12, MCDR2, PROML1, RP41, STGD4)

CD antigen name: CD133

HPA class: CD markers Disease related genes Human disease related genes Potential drug targets Transporters

AlphaFold DB: O43490

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/O43490

HPA link: https://www.proteinatlas.org/ENSG00000007062-PROM1

Tissue specificity RNA from HPA: Tissue enriched (retina)

Tissue expression from HPA: Membranous and cytoplasmic expression in several tissues.

Single cell type specificity Cell type enhanced (Cone photoreceptor cells, Rod photoreceptor cells, Respiratory ciliated cells)

Immune cell specificity: Not detected in immune cells

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

Pathology link: https://www.proteinatlas.org/ENSG00000007062-PROM1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000007062-PROM1/pathology/endometrial+cancer

Expression figure legend: Endometrioid adenocarcinoma of the endometrium.

Expression figure link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550511/figure/Fig1/

Survival figure legend: Overall Survival: CD133+ vs CD133− Tumors.$Progression Free Survival: CD133+ vs CD133− Tumors.

Survival curve link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550511/figure/Fig3/$https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550511/figure/Fig4/

Phenotype ID: 612095;612657;603786;608051;

Disease: Retinitis pigmentosa 41 (RP41);Cone-rod dystrophy 12 (CORD12);Stargardt disease 4 (STGD4);Retinal macular dystrophy 2 (MCDR2);

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

OMIM: 604365

OMIM link1: https://www.omim.org/entry/612095;https://www.omim.org/entry/612657;https://www.omim.org/entry/603786;https://www.omim.org/entry/608051;

OMIM link2: https://www.omim.org/entry/604365

HGNC ID: HGNC:9454

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9454