DSCR1

From Wikipedia, the free encyclopedia

Down syndrome critical region gene 1

PDB rendering based on 1wey.

Available structures: 1wey

Identifiers

Symbol(s)

DSCR1; DSC1; ADAPT78; CSP1; MCIP1; RCN1

External IDs

OMIM: 602917 MGI: 1890564 HomoloGene: 3251

Gene ontology
Molecular Function:	• transcription factor activity
Cellular Component:	• nucleus • cytoplasm
Biological Process:	• signal transduction • central nervous system development • circulation • calcium-mediated signaling

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004414 (mRNA)
NP_004405 (protein)

NM_001081549 (mRNA)
NP_001075018 (protein)

Location

Chr 21: 34.81 - 34.91 Mb

Chr 16: 92.28 - 92.35 Mb

Pubmed search

[1]

[2]

Down syndrome critical region gene 1, also known as DSCR1, is a human gene.^[1]

The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Three transcript variants encoding three different isoforms have been found for this gene.^[1]

[edit] References

^ ^a ^b Entrez Gene: DSCR1 Down syndrome critical region gene 1.

[edit] Further reading

Harris CD, Ermak G, Davies KJ (2006). "Multiple roles of the DSCR1 (Adapt78 or RCAN1) gene and its protein product calcipressin 1 (or RCAN1) in disease.". Cell. Mol. Life Sci. 62 (21): 2477–86. doi:10.1007/s00018-005-5085-4. PMID 16231093.
Keating DJ, Chen C, Pritchard MA (2006). "Alzheimer's disease and endocytic dysfunction: clues from the Down syndrome-related proteins, DSCR1 and ITSN1.". Ageing Res. Rev. 5 (4): 388–401. doi:10.1016/j.arr.2005.11.001. PMID 16442855.
Fuentes JJ, Pritchard MA, Planas AM, et al. (1996). "A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart.". Hum. Mol. Genet. 4 (10): 1935–44. PMID 8595418.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. PMID 9110174.
Fuentes JJ, Pritchard MA, Estivill X (1997). "Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene.". Genomics 44 (3): 358–61. doi:10.1006/geno.1997.4866. PMID 9325060.
Rothermel B, Vega RB, Yang J, et al. (2000). "A protein encoded within the Down syndrome critical region is enriched in striated muscles and inhibits calcineurin signaling.". J. Biol. Chem. 275 (12): 8719–25. PMID 10722714.
Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21.". Nature 405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953.
Fuentes JJ, Genescà L, Kingsbury TJ, et al. (2000). "DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways.". Hum. Mol. Genet. 9 (11): 1681–90. PMID 10861295.
Ermak G, Morgan TE, Davies KJ (2001). "Chronic overexpression of the calcineurin inhibitory gene DSCR1 (Adapt78) is associated with Alzheimer's disease.". J. Biol. Chem. 276 (42): 38787–94. doi:10.1074/jbc.M102829200. PMID 11483593.
Vega RB, Yang J, Rothermel BA, et al. (2002). "Multiple domains of MCIP1 contribute to inhibition of calcineurin activity.". J. Biol. Chem. 277 (33): 30401–7. doi:10.1074/jbc.M200123200. PMID 12063245.
Pfister SC, Machado-Santelli GM, Han SW, Henrique-Silva F (2003). "Mutational analyses of the signals involved in the subcellular location of DSCR1.". BMC Cell Biol. 3: 24. PMID 12225619.
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:10.1073/pnas.242603899. PMID 12477932.
Genescà L, Aubareda A, Fuentes JJ, et al. (2003). "Phosphorylation of calcipressin 1 increases its ability to inhibit calcineurin and decreases calcipressin half-life.". Biochem. J. 374 (Pt 2): 567–75. doi:10.1042/BJ20030267. PMID 12809556.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Hesser BA, Liang XH, Camenisch G, et al. (2004). "Down syndrome critical region protein 1 (DSCR1), a novel VEGF target gene that regulates expression of inflammatory markers on activated endothelial cells.". Blood 104 (1): 149–58. doi:10.1182/blood-2004-01-0273. PMID 15016650.
Michtalik HJ, Narayan AV, Bhatt N, et al. (2005). "Multiple oxidative stress-response members of the Adapt78 family.". Free Radic. Biol. Med. 37 (4): 454–62. doi:10.1016/j.freeradbiomed.2004.05.014. PMID 15256217.
Iizuka M, Abe M, Shiiba K, et al. (2004). "Down syndrome candidate region 1,a downstream target of VEGF, participates in endothelial cell migration and angiogenesis.". J. Vasc. Res. 41 (4): 334–44. doi:10.1159/000079832. PMID 15263820.
Yao YG, Duh EJ (2004). "VEGF selectively induces Down syndrome critical region 1 gene expression in endothelial cells: a mechanism for feedback regulation of angiogenesis?". Biochem. Biophys. Res. Commun. 321 (3): 648–56. doi:10.1016/j.bbrc.2004.06.176. PMID 15358155.
Minami T, Horiuchi K, Miura M, et al. (2005). "Vascular endothelial growth factor- and thrombin-induced termination factor, Down syndrome critical region-1, attenuates endothelial cell proliferation and angiogenesis.". J. Biol. Chem. 279 (48): 50537–54. doi:10.1074/jbc.M406454200. PMID 15448146.