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prominin-1; antigen AC133; prominin-like protein 1; CD133 (PROM1, PROML1, MSTP061)
Function:
- binds cholesterol in cholesterol-containing plasma membrane microdomains
- role in apical plasma membrane organization of epithelial cells (putative)
- during early retinal development, regulates disk morphogenesis
- role in regulation of MAPK & Akt signaling pathways
- in neuroblastoma cells suppresses cell differentiation including neurite outgrowth (RET-dependent)
- interacts with CDHR1 & with actin filaments
Structure:
- isoform 1 & isoform 2 are glycosylated
- belongs to the prominin family
Compartment:
- cell projection, cilium, photoreceptor outer segment (putative)
- multi-pass membrane protein
- isoform 1:
a) apical cell membrane
b) cell projection, microvillus
- isoform 2: cell membrane
Alternative splicing: named isoforms=2
Expression:
- isoform 1
a) selectively expressed on CD34-positive hematopoietic stem cells & progenitor cells in adult & fetal bone marrow, fetal liver, cord blood & adult peripheral blood
b) also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain & heart.
c) found in saliva within small membrane particles.
d) not detected on other blood cells
- isoform 2
a) predominantly expressed in fetal liver, skeletal muscle, kidney, & heart as well as adult pancreas, kidney, liver, lung, & placenta
b) highly expressed in fetal liver
c) low expression in bone marrow
d) very low expression in peripheral blood
e) expressed on hematopoietic stem cells & in epidermal basal cells (at protein level)
Pathology:
- defects in PROM1 are the cause of
a) retinitis pigmentosa type 41
b) cone-rod dystrophy type 12
c) Stargardt disease type 4
d) retinal macular dystrophy type 2
Laboratory:
- used as marker for hematopoietic progenitor cells for somatic stem cell isolation
General
cluster-of-differentiation antigen; cluster designation antigen; CD antigen
glycoprotein
human longevity protein
phosphoprotein
transmembrane 5 protein
Properties
SIZE: entity length = 865 aa
MW = 97 kD
COMPARTMENT: plasma membrane
MOTIF: exoplasmic domain {1-108}
MOTIF: signal sequence {1-19}
transmembrane domain {109-129}
cytoplasmic loop {130-157}
transmembrane domain {158-178}
exoplasmic loop {179-433}
MOTIF: N-glycosylation site {N220}
Thr phosphorylation site {T266}
N-glycosylation site {N274}
Ser phosphorylation site {S275}
Thr phosphorylation site {T276}
N-glycosylation site {N395}
N-glycosylation site {N414}
transmembrane domain {434-454}
cytoplasmic loop {455-486}
transmembrane domain {487-507}
exoplasmic loop {508-792}
MOTIF: N-glycosylation site {N548}
N-glycosylation site {N580}
N-glycosylation site {N729}
N-glycosylation site {N730}
transmembrane domain {793-813}
cytoplasmic domain {814-865}
Database Correlations
OMIM correlations
UniProt O43490
Pfam PF05478
Entrez Gene 8842
Kegg hsa:8842
References
- UniProt :accession O43490
- Mutations of the PROM1 gene
Retina International's scientific newsletter
http://www.retina-international.com/sci-news/promlmut.htm