PROM1 Antibody – Rabbit Polyclonal

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.

Protein type: Cell surface; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 4p15.32

Cellular Component: extracellular space; stereocilium; cell surface; photoreceptor outer segment; microvillus membrane; endoplasmic reticulum; integral to plasma membrane; apical plasma membrane; plasma membrane; ER-Golgi intermediate compartment; brush border; vesicle

Molecular Function: actinin binding; protein binding; cadherin binding

Biological Process: photoreceptor cell maintenance; retina morphogenesis in camera-type eye

Disease: Stargardt Disease 4; Macular Dystrophy, Retinal, 2; Retinitis Pigmentosa 41; Cone-rod Dystrophy 12