Biomarker: CD133

Histology type: endometrial carcinoma

Stage: early stage

Country: Egypt

Region: Zagazig

Study type: cross sectional study

Followed up time :

Subgroup 1 name : EC

Subgroup 1 number: 62

Subgroup 2 name: proliferative endometrium samples

Subgroup 2 number: 15

Conclusion: Analysis of our results supports the hypothesis that CD44 expression tends to decrease as the disease becomes invasive and progressive. So, we concluded that CD44 down-regulation might warn of a more aggressive course and may have a link with poorly prognosis carcinosarcomas. Further examination of the expression and function of CD44 and CD133 with a greater number of carcinosarcomas is warranted.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : expression

Expression elevation: The extent of positively stained epithelial cells was estimated and classified on a four-point scale as follows: no staining = 0%, 1 = 1–10%, 2 = 11–25%, 3 = 26–50%, and 4 = 51–100%. The intensity of the immunoexpression was categorized into three groups: weak (+1), moderate (+2), and strong (+3). A final IHS score was obtained by multiplying the score for extent and the score for intensity. Therefore, the combined immunoreactivity score ranged from 0 to 12. We used IHS cut-off point 10 to separate cases with weak to moderate expression from cases with strong expression. According to this, we categorized cases into 3 groups as follows: 0 (absent), IHS ≤ 10 (weak to moderate) and IHS > 10 (strong).

Statictics: Mean (SD)

Cohort age: 57.35 ± 7.799

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

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