SHROOM3
| SHROOM3 | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||
| Aliases | SHROOM3, APXL3, SHRM, ShrmL, MSTP013, shroom family member 3 | ||||||||||||||||
| External IDs | MGI: 1351655 HomoloGene: 9263 GeneCards: SHROOM3 | ||||||||||||||||
| Genetically Related Diseases | |||||||||||||||||
| kidney disease[1] | |||||||||||||||||
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| Orthologs | |||||||||||||||||
| Species | Human | Mouse | |||||||||||||||
| Entrez | |||||||||||||||||
| Ensembl | |||||||||||||||||
| UniProt | |||||||||||||||||
| RefSeq (mRNA) | |||||||||||||||||
| RefSeq (protein) | |||||||||||||||||
| Location (UCSC) | Chr 4: 76.44 – 76.78 Mb | Chr 5: 92.68 – 92.97 Mb | |||||||||||||||
| PubMed search | [2] | [3] | |||||||||||||||
| Wikidata | |||||||||||||||||
| View/Edit Human | View/Edit Mouse |
Protein shroom3 also known as shroom-related protein is a protein that in humans is encoded by the SHROOM3 gene.[4][5][6]
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.[7] A similar protein in mice is required for proper neurulation,[4][6] eye,[8] and gut development.[9][10]
References
- ↑ "Diseases that are genetically associated with SHROOM3 view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 Hildebrand JD, Soriano P (1999). "Shroom, a PDZ domain-containing actin-binding protein, is required for neural tube morphogenesis in mice". Cell. 99 (5): 485–97. doi:10.1016/S0092-8674(00)81537-8. PMID 10589677.
- ↑ Hagens O, Ballabio A, Kalscheuer V, Kraehenbuhl JP, Schiaffino MV, Smith P, Staub O, Hildebrand J, Wallingford JB (2006). "A new standard nomenclature for proteins related to Apx and Shroom". BMC Cell Biol. 7 (1): 18. doi:10.1186/1471-2121-7-18. PMC 1481537
. PMID 16615870. - 1 2 "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 Biol. 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, Lang RA (2010). "Pax6-dependent Shroom3 expression regulates apical constriction during lens placode invagination.". Development (Cambridge, England). 137 (3): 405–15. doi:10.1242/dev.045369. PMC 2858910. PMID 20081189.
- ↑ Grosse AS, Pressprich MF, Curley LB, Hamilton KL, Margolis B, Hildebrand JD, Gumucio DL (2011). "Cell dynamics in fetal intestinal epithelium: implications for intestinal growth and morphogenesis.". Development (Cambridge, England). 138 (20): 4423–32. doi:10.1242/dev.065789. 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): 227–34. doi:10.1016/j.ydbio.2011.06.027. PMID 21726547.
Further reading
- Juriloff DM, Harris MJ (2000). "Mouse models for neural tube closure defects.". Hum. Mol. Genet. 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.". Mol. Cell Proteomics. 4 (6): 785–95. 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): 339–46. doi:10.1002/pmic.200300528. PMID 14760703.
- 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 Res. 7 (2): 143–50. doi:10.1093/dnares/7.2.143. PMID 10819331.
- "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. 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.