O54990 (PROM1_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 98.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Prominin-1 Alternative name(s): Antigen AC133 homolog Prominin-like protein 1 CD_antigen=CD133 | ||||
| Gene names |
| ||||
| Organism | Mus musculus (Mouse) [Reference proteome] | ||||
| Taxonomic identifier | 10090 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus![]() |
Protein attributes
| Sequence length | 867 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Binds cholesterol in cholesterol-containing plasma membrane microdomains. Proposed to play a role in apical plasma membrane organization of epithelial cells. During early during 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 By similarity. Ref.12 |
| Subunit structure | Interacts with CDHR1 and with actin filaments By similarity. |
| Subcellular location | Apical cell membrane; Multi-pass membrane protein. Cell projection › microvillus membrane; Multi-pass membrane protein. Cell projection › cilium › photoreceptor outer segment. Note: Found in extracellular membrane particles in various body fluids such as ventricular fluid of the developing brain and urine. Ref.5 Ref.6 Ref.8 Ref.10 |
| Tissue specificity | In the submandibular gland, expressed on the apical side of epithelial cells. In the parotid gland, expressed in the intercalated ducts. In the sublingual gland, expressed in intercalated ducts. In the extraorbital lacrimal gland, expressed in the intercalated tubules and larger intralobular ducts. Expressed in the retina. Present in urine within small membrane particles (at protein level). In the embryo, expressed on the apical side of neuroepithelial cells and of other epithelia such as lung buds, gut and ureter buds. In the adult, expressed at the apical side of the kidney tubules and of the ependymal layer of the brain. Not expressed in gut, liver, lung, pituitary, adrenal, heart or spleen. Localized to the nascent disk membranes at the base of the rod outer segment in the retina (at protein level). Ref.6 Ref.9 Ref.11 Ref.12 |
| Developmental stage | At birth, is detected at the interface between the developing neuroretina and the retinal pigment epithelium (RPE) layer. In the postnatal retina (P20) detected in photoreceptors, with particular concentration in the region of plasma membrane evaginations at the basal part of the outer segment (OS). Expressed by rod and cone photoreceptor cells, most abundantly between the OS and inner segment (IS), in close proximity to the connecting cilium. Ref.12 |
| Disruption phenotype | Progressive degeneration and functional deterioration of both cone and rod photoreceptors associated with impaired morphogenesis of the disks and OS. Ref.12 |
| Miscellaneous | Fundus images and light microscopy of retinal sections from transgenic mice expressing mutant PROM1 reveal progressive retinal abnormalities visible as subretinal deposits and photoreceptor atrophy. |
| Sequence similarities | Belongs to the prominin family. |
Ontologies
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: O54990-1) Also known as: S2; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: O54990-2) Also known as: S1; The sequence of this isoform differs from the canonical sequence as follows: 94-102: Missing. | ||||||
| Isoform 3 (identifier: O54990-3) Also known as: S3; The sequence of this isoform differs from the canonical sequence as follows: 94-102: Missing. 833-843: VETVPMKNLEI → SSVSGMWHFTL 844-867: Missing. | ||||||
| Isoform 4 (identifier: O54990-4) Also known as: S4; The sequence of this isoform differs from the canonical sequence as follows: 94-107: Missing. 335-360: QLPSVDRELNTVTEVDKTDLESLVKR → Q 833-843: VETVPMKNLEI → SSVSGMWHFTL 844-867: Missing. | ||||||
| Isoform 5 (identifier: O54990-5) Also known as: S5; The sequence of this isoform differs from the canonical sequence as follows: 94-102: Missing. 335-360: QLPSVDRELNTVTEVDKTDLESLVKR → Q 833-843: VETVPMKNLEI → SSVSGMWHFTL 844-867: Missing. | ||||||
| Isoform 6 (identifier: O54990-6) Also known as: S6; The sequence of this isoform differs from the canonical sequence as follows: 94-102: Missing. 832-832: D → E 833-867: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 19 | 19 | Potential | ||||||
| Chain | 20 – 867 | 848 | Prominin-1 | PRO_0000025814 | |||||
Regions | |||||||||
| Topological domain | 20 – 107 | 88 | Extracellular Potential | ||||||
| Transmembrane | 108 – 128 | 21 | Helical; Potential | ||||||
| Topological domain | 129 – 158 | 30 | Cytoplasmic Potential | ||||||
| Transmembrane | 159 – 179 | 21 | Helical; Potential | ||||||
| Topological domain | 180 – 434 | 255 | Extracellular Potential | ||||||
| Transmembrane | 435 – 455 | 21 | Helical; Potential | ||||||
| Topological domain | 456 – 487 | 32 | Cytoplasmic Potential | ||||||
| Transmembrane | 488 – 508 | 21 | Helical; Potential | ||||||
| Topological domain | 509 – 794 | 286 | Extracellular Potential | ||||||
| Transmembrane | 795 – 815 | 21 | Helical; Potential | ||||||
| Topological domain | 816 – 867 | 52 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 865 | 1 | Phosphoserine By similarity | ||||||
| Glycosylation | 273 | 1 | N-linked (GlcNAc...) Ref.13 | ||||||
| Glycosylation | 291 | 1 | N-linked (GlcNAc...) Ref.13 | ||||||
| Glycosylation | 332 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 374 | 1 | N-linked (GlcNAc...) Ref.13 | ||||||
| Glycosylation | 415 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 554 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 581 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 732 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 94 – 107 | 14 | Missing in isoform 4. | VSP_040005 | |||||
| Alternative sequence | 94 – 102 | 9 | Missing in isoform 2, isoform 3, isoform 5 and isoform 6. | VSP_040006 | |||||
| Alternative sequence | 335 – 360 | 26 | QLPSV…SLVKR → Q in isoform 4 and isoform 5. | VSP_040007 | |||||
| Alternative sequence | 832 | 1 | D → E in isoform 6. | VSP_040008 | |||||
| Alternative sequence | 833 – 867 | 35 | Missing in isoform 6. | VSP_040009 | |||||
| Alternative sequence | 833 – 843 | 11 | VETVPMKNLEI → SSVSGMWHFTL in isoform 3, isoform 4 and isoform 5. | VSP_040010 | |||||
| Alternative sequence | 844 – 867 | 24 | Missing in isoform 3, isoform 4 and isoform 5. | VSP_040011 | |||||
Experimental info | |||||||||
| Sequence conflict | 64 | 1 | S → N in AAB86715. Ref.2 | ||||||
| Sequence conflict | 64 | 1 | S → N in AAM28245. Ref.3 | ||||||
| Sequence conflict | 64 | 1 | S → N in AAO11840. Ref.3 | ||||||
| Sequence conflict | 64 | 1 | S → N in AAO72429. Ref.3 | ||||||
| Sequence conflict | 64 | 1 | S → N in AAO72430. Ref.3 | ||||||
| Sequence conflict | 64 | 1 | S → N in BAC26745. Ref.4 | ||||||
| Sequence conflict | 84 | 1 | K → N in AAB86715. Ref.2 | ||||||
| Sequence conflict | 84 | 1 | K → N in AAM28245. Ref.3 | ||||||
| Sequence conflict | 84 | 1 | K → N in AAO11840. Ref.3 | ||||||
| Sequence conflict | 84 | 1 | K → N in AAO72429. Ref.3 | ||||||
| Sequence conflict | 84 | 1 | K → N in AAO72430. Ref.3 | ||||||
| Sequence conflict | 84 | 1 | K → N in BAC26745. Ref.4 | ||||||
| Sequence conflict | 668 | 1 | P → L in AAB86715. Ref.2 | ||||||
| Sequence conflict | 668 | 1 | P → L in AAM28245. Ref.3 | ||||||
| Sequence conflict | 668 | 1 | P → L in AAO72429. Ref.3 | ||||||
| Sequence conflict | 668 | 1 | P → L in AAO72430. Ref.3 | ||||||
| Sequence conflict | 668 | 1 | P → L in BAC26745. Ref.4 | ||||||
| Sequence conflict | 844 | 1 | G → D in AAB86715. Ref.2 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloning." Miraglia S., Godfrey W., Yin A.H., Atkins K., Warnke R., Holden J.T., Bray R.A., Waller E.K., Buck D.W. Blood 90:5013-5021(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Prominin, a novel microvilli-specific polytopic membrane protein of the apical surface of epithelial cells, is targeted to plasmalemmal protrusions of non-epithelial cells." Weigmann A., Corbeil D., Hellwig A., Huttner W.B. Proc. Natl. Acad. Sci. U.S.A. 94:12425-12430(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Kidney. |
| [3] | "Identification of novel Prominin-1/CD133 splice variants with alternative C-termini and their expression in epididymis and testis." Fargeas C.A., Joester A., Missol-Kolka E., Hellwig A., Huttner W.B., Corbeil D. J. Cell Sci. 117:4301-4311(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3; 4; 5 AND 6). Strain: BALB/c. Tissue: Testis. |
| [4] | "The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. Hayashizaki Y.Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Strain: C57BL/6J. Tissue: Testis. |
| [5] | "Retention of prominin in microvilli reveals distinct cholesterol-based lipid micro-domains in the apical plasma membrane." Roeper K., Corbeil D., Huttner W.B. Nat. Cell Biol. 2:582-592(2000) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, CHOLESTEROL BINDING. |
| [6] | "Characterization of prominin-2, a new member of the prominin family of pentaspan membrane glycoproteins." Fargeas C.A., Florek M., Huttner W.B., Corbeil D. J. Biol. Chem. 278:8586-8596(2003) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION. |
| [7] | "Nomenclature of prominin-1 (CD133) splice variants - an update." Fargeas C.A., Huttner W.B., Corbeil D. Tissue Antigens 69:602-606(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NOMENCLATURE OF ISOFORMS. |
| [8] | "Prominin-2 is a cholesterol-binding protein associated with apical and basolateral plasmalemmal protrusions in polarized epithelial cells and released into urine." Florek M., Bauer N., Janich P., Wilsch-Braeuninger M., Fargeas C.A., Marzesco A.-M., Ehninger G., Thiele C., Huttner W.B., Corbeil D. Cell Tissue Res. 328:31-47(2007) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [9] | "Differential expression of prominin-1 (CD133) and prominin-2 in major cephalic exocrine glands of adult mice." Jaszai J., Janich P., Farkas L.M., Fargeas C.A., Huttner W.B., Corbeil D. Histochem. Cell Biol. 128:409-419(2007) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [10] | "Midbody and primary cilium of neural progenitors release extracellular membrane particles enriched in the stem cell marker prominin-1." Dubreuil V., Marzesco A.M., Corbeil D., Huttner W.B., Wilsch-Braeuninger M. J. Cell Biol. 176:483-495(2007) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [11] | "Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice." 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. Zhang K.J. Clin. Invest. 118:2908-2916(2008) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [12] | "Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration." Zacchigna S., Oh H., Wilsch-Brauninger M., Missol-Kolka E., Jaszai J., Jansen S., Tanimoto N., Tonagel F., Seeliger M., Huttner W.B., Corbeil D., Dewerchin M., Vinckier S., Moons L., Carmeliet P. J. Neurosci. 29:2297-2308(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE. |
| [13] | "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins." Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D. Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-273; ASN-291 AND ASN-374, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF039663 mRNA. Translation: AAB96916.1. AF026269 mRNA. Translation: AAB86715.1. AF305215 mRNA. Translation: AAO11840.1. AY099088 mRNA. Translation: AAM28245.1. AY223521 mRNA. Translation: AAO72429.1. AY223522 mRNA. Translation: AAO72430.1. AK030027 mRNA. Translation: BAC26745.1. |
| IPI | IPI00120066. IPI00621410. IPI00944056. IPI00944196. IPI00971271. IPI00971282. |
| PIR | T08881. |
| RefSeq | NP_001157050.1. NM_001163578.1. NP_001157053.1. NM_001163581.1. NP_001157054.1. NM_001163582.1. NP_001157055.1. NM_001163583.1. |
| UniGene | Mm.6250. |
3D structure databases | |
| ProteinModelPortal | O54990. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 10090.ENSMUSP00000073751. |
PTM databases | |
| PhosphoSite | O54990. |
Proteomic databases | |
| PaxDb | O54990. |
| PRIDE | O54990. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENSMUST00000030973; ENSMUSP00000030973; ENSMUSG00000029086. ENSMUST00000087442; ENSMUSP00000084709; ENSMUSG00000029086. |
| GeneID | 19126. |
| KEGG | mmu:19126. |
| UCSC | uc008xig.2. mouse. |
Organism-specific databases | |
| CTD | 8842. |
| MGI | MGI:1100886. Prom1. |
Phylogenomic databases | |
| eggNOG | NOG322325. |
| GeneTree | ENSGT00530000063586. |
| HOGENOM | HOG000115704. |
| HOVERGEN | HBG053690. |
| InParanoid | O54990. |
| KO | K06532. |
| OrthoDB | EOG4HHP1Q. |
Gene expression databases | |
| ArrayExpress | O54990. |
| Bgee | O54990. |
| CleanEx | MM_PROM1. |
| Genevestigator | O54990. |
| GermOnline | ENSMUSG00000029086. Mus musculus. |
Family and domain databases | |
| InterPro | IPR008795. Prominin. [Graphical view] |
| PANTHER | PTHR22730. PTHR22730. 1 hit. |
| Pfam | PF05478. Prominin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 295734. |
| SOURCE | Search... |
Entry information
| Entry name | PROM1_MOUSE | ||||||||
| Accession | Primary (citable) accession number: O54990 Secondary accession number(s): O35408 Q8BH12 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
Relevant documents
| MGD cross-references Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
