[1]
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NUCLEOTIDE SEQUENCE [MRNA], AND PROTEIN SEQUENCE OF 31-42; 200-211; 280-291 AND 641-656.
TISSUE=Fetal liver, and Retinoblastoma;
PubMed=9389721 [NCBI, ExPASy, EBI, Israel, Japan]
Miraglia S.,
Godfrey W.,
Yin A.H.,
Atkins K.,
Warnke R.,
Holden J.T.,
Bray R.A.,
Waller E.K.,
Buck D.W.;
"A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloning.";
Blood 90:5013-5021(1997).
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[2]
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CHARACTERIZATION.
TISSUE=Fetal liver;
PubMed=9389720 [NCBI, ExPASy, EBI, Israel, Japan]
Yin A.H.,
Miraglia S.,
Zanjani E.D.,
Almeida-Porada G.,
Ogawa M.,
Leary A.G.,
Olweus J.,
Kearney J.,
Buck D.W.;
"AC133, a novel marker for human hematopoietic stem and progenitor cells.";
Blood 90:5002-5012(1997).
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[3]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-266; SER-275 AND THR-276, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1016/j.cell.2006.09.026; PubMed=17081983 [NCBI, ExPASy, EBI, Israel, Japan]
Olsen J.V.,
Blagoev B.,
Gnad F.,
Macek B.,
Kumar C.,
Mortensen P.,
Mann M.;
"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.";
Cell 127:635-648(2006).
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[4]
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TISSUE SPECIFICITY.
DOI=10.1007/s00418-007-0334-2; PubMed=17874118 [NCBI, ExPASy, EBI, Israel, Japan]
Jaszai J.,
Janich P.,
Farkas L.M.,
Fargeas C.A.,
Huttner W.B.,
Corbeil D.;
"Differential expression of prominin-1 (CD133) and prominin-2 in major cephalic exocrine glands of adult mice.";
Histochem. Cell Biol. 128:409-419(2007).
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[5]
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INVOLVEMENT IN RP41.
DOI=10.1093/hmg/9.1.27; PubMed=10587575 [NCBI, ExPASy, EBI, Israel, Japan]
Maw M.A.,
Corbeil D.,
Koch J.,
Hellwig A.,
Wilson-Wheeler J.C.,
Bridges R.J.,
Kumaramanickavel G.,
John S.,
Nancarrow D.,
Roeper K.,
Weigmann A.,
Huttner W.B.,
Denton M.J.;
"A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration.";
Hum. Mol. Genet. 9:27-34(2000).
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[6]
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INVOLVEMENT IN RP41.
DOI=10.1007/s00439-007-0395-2; PubMed=17605048 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang Q.,
Zulfiqar F.,
Xiao X.,
Riazuddin S.A.,
Ahmad Z.,
Caruso R.,
MacDonald I.,
Sieving P.,
Riazuddin S.,
Hejtmancik J.F.;
"Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.";
Hum. Genet. 122:293-299(2007).
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[7]
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VARIANT CORD12/STGD4/MCDR2 CYS-373, INTERACTION WITH PCDH21 AND ACTIN, AND CHARACTERIZATION OF VARIANT CORD12/STGD4/MCDR2 CYS-373.
DOI=10.1172/JCI35891; PubMed=18654668 [NCBI, ExPASy, EBI, Israel, Japan]
Yang Z.,
Chen Y.,
Lillo C.,
Chien J.,
Yu Z.,
Michaelides M.,
Klein M.,
Howes K.A.,
Li Y.,
Kaminoh Y.,
Chen H.,
Zhao C.,
Chen Y.,
Al-Sheikh Y.T.,
Karan G.,
Corbeil D.,
Escher P.,
Kamaya S.,
Li C., ![]()
Johnson S.,
Frederick J.M.,
Zhao Y.,
Wang C.,
Cameron D.J.,
Huttner W.B.,
Schorderet D.F.,
Munier F.L.,
Moore A.T.,
Birch D.G.,
Baehr W.,
Hunt D.M.,
Williams D.S.,
Zhang K.;
"Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.";
J. Clin. Invest. 118:2908-2916(2008).
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- SUBUNIT: Interacts with PCDH21 and with actin filaments.
- SUBCELLULAR LOCATION: Apical cell membrane; Multi-pass membrane protein (By similarity). Cell projection, microvillus membrane; Multi-pass membrane protein (By similarity).
- TISSUE SPECIFICITY: Selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Not detected on other blood cells. 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.
- PTM: Glycosylated.
- DISEASE: Defects in PROM1 are the cause of retinitis pigmentosa type 41 (RP41) [MIM:612095]; also known as retinal degeneration autosomal recessive prominin-related. RP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
- DISEASE: Defects in PROM1 are the cause of cone-rod dystrophy type 12 (CORD12) [MIM:612657]. CORD12 is an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.
- DISEASE: Defects in PROM1 are the cause of Stargardt disease type 4 (STGD4) [MIM:603786]. Stargardt disease is the most common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
- DISEASE: Defects in PROM1 are the cause of retinal macular dystrophy type 2 (MCDR2) [MIM:608051]. MCDR2 is a bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.
- SIMILARITY: Belongs to the prominin family.
- WEB RESOURCE: Name=Mutations of the PROM1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.com/sci-news/promlmut.htm";.
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