InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PROM1

Summary

InnateDB Protein

IDBP-593138.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PROM1

Protein Name

prominin 1

Synonyms

AC133; CD133; CORD12; MCDR2; PROML1; RP41; STGD4;

Species

Homo sapiens

Ensembl Protein

ENSP00000438045

InnateDB Gene

IDBG-10779 (PROM1)

Protein Structure

UniProt Annotation

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}.

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.

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.

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}.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	5 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0042805	actinin binding
GO:0045296	cadherin binding

Biological Process

GO:0010842	retina layer formation
GO:0045494	photoreceptor cell maintenance
GO:0060042	retina morphogenesis in camera-type eye
GO:0060219	camera-type eye photoreceptor cell differentiation
GO:0072112	glomerular visceral epithelial cell differentiation
GO:0072139	glomerular parietal epithelial cell differentiation
GO:2000768	positive regulation of nephron tubule epithelial cell differentiation

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0009986	cell surface
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0031528	microvillus membrane
GO:0042622	photoreceptor outer segment membrane
GO:0070062	extracellular vesicular exosome