InnateDB Protein
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IDBP-484181.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PROM1
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Protein Name
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prominin 1
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Synonyms
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AC133; CD133; CORD12; MCDR2; PROML1; RP41; STGD4;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000426809
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InnateDB Gene
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IDBG-10779 (PROM1)
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Protein Structure
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Function |
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). {ECO:0000269PubMed:20818439, ECO:0000269PubMed:24556617}.
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Subcellular Localization |
Apical cell membrane {ECO:0000250}; Multi- pass membrane protein {ECO:0000250}. Cell projection, microvillus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment. Note=Found in extracellular membrane particles in various body fluids such as cerebrospinal fluid, saliva, seminal fluid and urine.
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Disease Associations |
Retinitis pigmentosa 41 (RP41) [MIM:612095]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa 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. {ECO:0000269PubMed:10587575, ECO:0000269PubMed:17605048}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cone-rod dystrophy 12 (CORD12) [MIM:612657]: 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. {ECO:0000269PubMed:18654668}. Note=The disease is caused by mutations affecting the gene represented in this entry.Stargardt disease 4 (STGD4) [MIM:603786]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinal macular dystrophy 2 (MCDR2) [MIM:608051]: A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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). {ECO:0000269PubMed:12042327, ECO:0000269PubMed:17874118}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
GO:0010842
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retina layer formation
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GO:0045494
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photoreceptor cell maintenance
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GO:0060042
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retina morphogenesis in camera-type eye
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GO:0060219
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camera-type eye photoreceptor cell differentiation
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GO:0072112
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glomerular visceral epithelial cell differentiation
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GO:0072139
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glomerular parietal epithelial cell differentiation
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GO:2000768
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positive regulation of nephron tubule epithelial cell differentiation
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Cellular Component |
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PDB ID |
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InterPro |
IPR008795
Prominin
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PFAM |
PF05478
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O43490
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PhosphoSite |
PhosphoSite-O43490
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TrEMBL |
D6RIF3
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UniProt Splice Variant |
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Entrez Gene |
8842
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UniGene |
Hs.736099
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RefSeq |
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HUGO |
HGNC:9454
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OMIM |
604365
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CCDS |
CCDS47029
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HPRD |
05079
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IMGT |
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EMBL |
AC005598
AC108063
AF027208
AF117225
AF507034
AK027422
AY449689
AY449690
AY449691
AY449692
AY449693
BC012089
CH471069
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GenPept |
AAB92514
AAH12089
AAM33415
AAO15307
AAS19705
AAS19706
AAS19707
AAS19708
AAS19709
BAG51317
EAW92750
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