Reviewed,
UniProtKB/Swiss-Prot O43490 (PROM1_HUMAN)
Last modified
June 16, 2009.
Version 83.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Prominin-1 Alternative name(s): Prominin-like protein 1 Antigen AC133 CD_antigen=CD133 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 865 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)
| Subunit structure | 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. Ref.4 |
| Post-translational modification | Glycosylated. |
| Involvement in 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. Ref.5 Ref.6 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. 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. 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. |
| Sequence similarities | Belongs to the prominin family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Sensory transduction Vision |
| Cellular component | Cell membrane Cell projection Membrane |
| Coding sequence diversity | Polymorphism |
| Disease | Cone-rod dystrophy Disease mutation Retinitis pigmentosa Stargardt disease |
| Domain | Signal Transmembrane |
| PTM | Glycoprotein Phosphoprotein |
| Technical term | Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perceptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | apical plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cell surfaceInferred from direct assay. Source: UniProtKB integral to plasma membrane Ref.2Traceable author statement. Source: ProtInc microvillus membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 19 | 19 | Potential | ||||||
| Chain | 20 – 865 | 846 | Prominin-1 | PRO_0000025813 | |||||
Regions | |||||||||
| Topological domain | 20 – 108 | 89 | Extracellular Potential | ||||||
| Transmembrane | 109 – 129 | 21 | Potential | ||||||
| Topological domain | 130 – 157 | 28 | Cytoplasmic Potential | ||||||
| Transmembrane | 158 – 178 | 21 | Potential | ||||||
| Topological domain | 179 – 433 | 255 | Extracellular Potential | ||||||
| Transmembrane | 434 – 454 | 21 | Potential | ||||||
| Topological domain | 455 – 486 | 32 | Cytoplasmic Potential | ||||||
| Transmembrane | 487 – 507 | 21 | Potential | ||||||
| Topological domain | 508 – 792 | 285 | Extracellular Potential | ||||||
| Transmembrane | 793 – 813 | 21 | Potential | ||||||
| Topological domain | 814 – 865 | 52 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 266 | 1 | Phosphothreonine Ref.3 | ||||||
| Modified residue | 275 | 1 | Phosphoserine Ref.3 | ||||||
| Modified residue | 276 | 1 | Phosphothreonine Ref.3 | ||||||
| Glycosylation | 220 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 274 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 395 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 414 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 548 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 580 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 729 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 730 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 31 | 1 | A → G | VAR_010382 | |||||
| Natural variant | 31 | 1 | A → S | VAR_010383 | |||||
| Natural variant | 373 | 1 | R → C in CORD12, STGD4 and MCDR2; affects the interaction with PCDH21 and actin. | VAR_057961 | |||||
Experimental info | |||||||||
| Sequence conflict | 200 | 1 | D → A AA sequence Ref.1 | ||||||
| Sequence conflict | 200 | 1 | D → P AA sequence Ref.1 | ||||||
| Sequence conflict | 284 | 1 | S → D AA sequence Ref.1 | ||||||
| Sequence conflict | 288 | 1 | S → R AA sequence Ref.1 | ||||||
Sequences
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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: 9389721] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 31-42; 200-211; 280-291 AND 641-656. Tissue: Fetal liver and Retinoblastoma. |
| [2] | "AC133, a novel marker for human hematopoietic stem and progenitor cells." Yin A.H., Miraglia S., Zanjani E.D., Almeida-Porada G., Ogawa M., Leary A.G., Olweus J., Kearney J., Buck D.W. Blood 90:5002-5012(1997) [PubMed: 9389720] [Abstract] Cited for: CHARACTERIZATION. Tissue: Fetal liver. |
| [3] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-266; SER-275 AND THR-276, MASS SPECTROMETRY. Tissue: Epithelium. |
| [4] | "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: 17874118] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [5] | "A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration." 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. Hum. Mol. Genet. 9:27-34(2000) [PubMed: 10587575] [Abstract] Cited for: INVOLVEMENT IN RP41. |
| [6] | "Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene." Zhang Q., Zulfiqar F., Xiao X., Riazuddin S.A., Ahmad Z., Caruso R., MacDonald I., Sieving P., Riazuddin S., Hejtmancik J.F. Hum. Genet. 122:293-299(2007) [PubMed: 17605048] [Abstract] Cited for: INVOLVEMENT IN RP41. |
| [7] | "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: 18654668] [Abstract] Cited for: VARIANT CORD12/STGD4/MCDR2 CYS-373, INTERACTION WITH PCDH21 AND ACTIN, CHARACTERIZATION OF VARIANT CORD12/STGD4/MCDR2 CYS-373. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF027208 mRNA. Translation: AAB92514.1. | |
| IPI | IPI00012540. |
| PIR | T09050. |
| RefSeq | NP_006008.1. |
| UniGene | Hs.614734 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | O43490. |
Proteomic databases | |
| PRIDE | O43490. |
Genome annotation databases | |
| Ensembl | ENSG00000007062. Homo sapiens. [Contig view] |
| GeneID | 8842. |
| KEGG | hsa:8842. |
Organism-specific databases | |
| GeneCards | GC04M015578. |
| H-InvDB | HIX0004116. |
| HGNC | HGNC:9454. PROM1. |
| HPA | CAB011525. |
| MIM | 603786. phenotype. 604365. gene. 608051. phenotype. 612095. phenotype. 612657. phenotype. |
| Orphanet | 791. Retinitis pigmentosa. 827. Stargardt disease. |
| PharmGKB | PA33807. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | O43490. |
| HOVERGEN | O43490. |
Gene expression databases | |
| CleanEx | HS_PROM1. |
| GermOnline | ENSG00000007062. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008795. Prominin. [Graphical view] |
| PANTHER | PTHR22730. Prominin. 1 hit. |
| Pfam | PF05478. Prominin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 33194. |
| SOURCE | Search... |
Entry information
| Entry name | PROM1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O43490 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human cell differentiation molecules CD nomenclature of surface proteins of human leucocytes and list of entries |
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


