SLURP1
From Wikipedia, the free encyclopedia
Secreted LY6/PLAUR domain containing 1
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Identifiers | ||||||||||||||
Symbol(s) | SLURP1; ARS; ANUP; ArsB; LY6LS; MDM | |||||||||||||
External IDs | OMIM: 606119 MGI: 1930923 HomoloGene: 10710 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 57152 | 57277 | ||||||||||||
Ensembl | ENSG00000126233 | ENSMUSG00000022596 | ||||||||||||
Uniprot | P55000 | Q2TA55 | ||||||||||||
Refseq | NM_020427 (mRNA) NP_065160 (protein) |
NM_020519 (mRNA) NP_065265 (protein) |
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Location | Chr 8: 143.82 - 143.82 Mb | Chr 15: 74.55 - 74.56 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Secreted LY6/PLAUR domain containing 1, also known as SLURP1, is a human gene.[1]
The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors.[1]
[edit] References
[edit] Further reading
- Ridge RJ, Sloane NH (1996). "Partial N-terminal amino acid sequence of the anti-neoplastic urinary protein (ANUP) and the anti-tumour effect of the N-terminal nonapeptide of the unique cytokine present in human granulocytes.". Cytokine 8 (1): 1–5. doi: . PMID 8742060.
- Fischer J, Bouadjar B, Heilig R, et al. (1999). "Genetic linkage of Meleda disease to chromosome 8qter.". Eur. J. Hum. Genet. 6 (6): 542–7. doi: . PMID 9887370.
- Adermann K, Wattler F, Wattler S, et al. (1999). "Structural and phylogenetic characterization of human SLURP-1, the first secreted mammalian member of the Ly-6/uPAR protein superfamily.". Protein Sci. 8 (4): 810–9. PMID 10211827.
- Fischer J, Bouadjar B, Heilig R, et al. (2001). "Mutations in the gene encoding SLURP-1 in Mal de Meleda.". Hum. Mol. Genet. 10 (8): 875–80. PMID 11285253.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi: . PMID 12477932.
- Eckl KM, Stevens HP, Lestringant GG, et al. (2003). "Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.". Hum. Genet. 112 (1): 50–6. doi: . PMID 12483299.
- Marrakchi S, Audebert S, Bouadjar B, et al. (2003). "Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.". J. Invest. Dermatol. 120 (3): 351–5. doi: . PMID 12603845.
- Hu G, Yildirim M, Baysal V, et al. (2003). "A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.". J. Invest. Dermatol. 120 (6): 967–9. doi: . PMID 12787122.
- Chimienti F, Hogg RC, Plantard L, et al. (2004). "Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda.". Hum. Mol. Genet. 12 (22): 3017–24. doi: . PMID 14506129.
- Charfeddine C, Mokni M, Ben Mousli R, et al. (2004). "A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.". Br. J. Dermatol. 149 (6): 1108–15. PMID 14674887.
- Mastrangeli R, Donini S, Kelton CA, et al. (2004). "ARS Component B: structural characterization, tissue expression and regulation of the gene and protein (SLURP-1) associated with Mal de Meleda.". European journal of dermatology : EJD 13 (6): 560–70. PMID 14721776.
- Mokni M, Charfeddine C, Ben Mously R, et al. (2004). "Heterozygous manifestations in female carriers of Mal de Meleda.". Clin. Genet. 65 (3): 244–6. PMID 14756676.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi: . PMID 15489334.
- Chao SC, Lai FJ, Yang MH, Lee JY (2006). "Mal de Meleda in a taiwanese.". J. Formos. Med. Assoc. 104 (4): 276–8. PMID 15909066.
- Arredondo J, Chernyavsky AI, Webber RJ, Grando SA (2006). "Biological effects of SLURP-1 on human keratinocytes.". J. Invest. Dermatol. 125 (6): 1236–41. doi: . PMID 16354194.
- Arredondo J, Chernyavsky AI, Grando SA (2007). "Overexpression of SLURP-1 and -2 alleviates the tumorigenic action of tobacco-derived nitrosamine on immortalized oral epithelial cells.". Biochem. Pharmacol. 74 (8): 1315–9. doi: . PMID 17643396.