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CD133 Binds cholesterol in cholesterol-containing plasma membrane microdomains. Proposed to play a role in apical plasma membrane organization of 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. Interacts with CDHR1 and with actin filaments. 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. Expressed in adult retina by rod and cone photoreceptor cells. Belongs to the prominin family. 7 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell surface; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 4p15.32
Cellular Component: apical plasma membrane; cell surface; endoplasmic reticulum; endoplasmic reticulum-Golgi intermediate compartment; extracellular space; integral component of plasma membrane; microvillus membrane; photoreceptor outer segment; plasma membrane; vesicle
Molecular Function: actinin binding; cadherin binding; protein binding
Biological Process: photoreceptor cell maintenance; retina morphogenesis in camera-type eye
Disease: Cone-rod Dystrophy 12; Macular Dystrophy, Retinal, 2; Retinitis Pigmentosa 41; Stargardt Disease 4
Reference #:  O43490 (UniProtKB)
Alt. Names/Synonyms: AC133; Antigen AC133; CD133; CORD12; hematopoietic stem cell antigen; hProminin; MCDR2; MSTP061; PROM1; prominin 1; Prominin-1; prominin-like 1; Prominin-like protein 1; PROML1; RP41; STGD4
Gene Symbols: PROM1
Molecular weight: 97,202 Da
Basal Isoelectric point: 6.97  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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