SHROOM3
| SHROOM3 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SHROOM3, APXL3, SHRM, ShrmL, MSTP013, shroom family member 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604570; MGI: 1351655; GeneCards: SHROOM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Protein shroom3 also known as shroom-related protein is a protein that in humans is encoded by the SHROOM3 gene.[5][6][7]
Protein shroom3 is a PDZ domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues.
Clinical relevance
Mutations in this gene have been shown to cause heterotaxy.[8] A similar protein in mice is required for proper neurulation,[5][7] eye,[9] and gut development.[10][11]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000138771 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029381 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b Hildebrand JD, Soriano P (1999). "Shroom, a PDZ domain-containing actin-binding protein, is required for neural tube morphogenesis in mice". Cell. 99 (5): 485–497. doi:10.1016/S0092-8674(00)81537-8. PMID 10589677. S2CID 17185521.
- ^ Hagens O, Ballabio A, Kalscheuer V, Kraehenbuhl JP, Schiaffino MV, Smith P, et al. (2006). "A new standard nomenclature for proteins related to Apx and Shroom". BMC Cell Biology. 7 (1) 18. doi:10.1186/1471-2121-7-18. PMC 1481537. PMID 16615870.
- ^ a b "Entrez Gene: SHROOM3 shroom family member 3".
- ^ Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM (2011). "SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing". Genome Biology. 12 (9) R91. doi:10.1186/gb-2011-12-9-r91. PMC 3308054. PMID 21936905.
- ^ Plageman TF, Chung MI, Lou M, Smith AN, Hildebrand JD, Wallingford JB, et al. (2010). "Pax6-dependent Shroom3 expression regulates apical constriction during lens placode invagination". Development. 137 (3). Cambridge, England: 405–415. doi:10.1242/dev.045369. PMC 2858910. PMID 20081189.
- ^ Grosse AS, Pressprich MF, Curley LB, Hamilton KL, Margolis B, Hildebrand JD, et al. (2011). "Cell dynamics in fetal intestinal epithelium: implications for intestinal growth and morphogenesis". Development. 138 (20). Cambridge, England: 4423–4432. doi:10.1242/dev.065789. PMC 3177312. PMID 21880782.
- ^ Plageman TF, Zacharias AL, Gage PJ, Lang RA (2011). "Shroom3 and a Pitx2-N-cadherin pathway function cooperatively to generate asymmetric cell shape changes during gut morphogenesis". Developmental Biology. 357 (1): 227–234. doi:10.1016/j.ydbio.2011.06.027. PMC 3619216. PMID 21726547.
Further reading
- Juriloff DM, Harris MJ (2000). "Mouse models for neural tube closure defects". Human Molecular Genetics. 9 (6): 993–1000. doi:10.1093/hmg/9.6.993. PMID 10767323.
- Benzinger A, Muster N, Koch HB, Yates JR, Hermeking H (2005). "Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer". Molecular & Cellular Proteomics. 4 (6): 785–795. doi:10.1074/mcp.M500021-MCP200. PMID 15778465.
- Navarro-Lérida I, Martínez Moreno M, Roncal F, Gavilanes F, Albar JP, Rodríguez-Crespo I (2004). "Proteomic identification of brain proteins that interact with dynein light chain LC8". Proteomics. 4 (2): 339–346. doi:10.1002/pmic.200300528. PMID 14760703. S2CID 8868600.
- Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O (2000). "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (2): 143–150. doi:10.1093/dnares/7.2.143. PMID 10819331.
- Sanger Centre T, Washington University Genome Sequencing Cente T (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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