SHROOM3

SHROOM3
Identifiers
Aliases	SHROOM3, APXL3, SHRM, ShrmL, MSTP013, shroom family member 3
External IDs	OMIM: 604570 MGI: 1351655 HomoloGene: 9263 GeneCards: SHROOM3
Gene location (Human)
Chr.	Chromosome 4 (human)
End	76,783,253 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	93,113,177 bp
RNA expression pattern
	Top expressed in
	pancreatic epithelial cell; ; pancreatic ductal cell; ; bronchial epithelial cell; ; corpus epididymis; ; retinal pigment epithelium; ; sural nerve; ; saphenous vein; ; lactiferous duct; ; duodenum; ; lower lobe of lung;
	Top expressed in
	medullary collecting duct; ; Paneth cell; ; left colon; ; submandibular gland; ; epithelium of stomach; ; ascending aorta; ; aortic valve; ; right lung; ; renal corpuscle; ; crypt of lieberkuhn of small intestine;
	More reference expression data
	n/a
Gene ontology
Molecular function	actin filament binding; actin binding;
Cellular component	apical plasma membrane; cell junction; adherens junction; cytoplasm; apical junction complex; microtubule; cytoskeleton; cortical actin cytoskeleton;
Biological process	cellular pigment accumulation; multicellular organism development; apical protein localization; regulation of cell shape; neural tube closure; epithelial cell development; pattern specification process; cell morphogenesis; actin filament organization; actin cytoskeleton organization;
	Sources:Amigo / QuickGO
Orthologs
	57619
	27428
	ENSG00000138771
	ENSMUSG00000029381
	Q8TF72
	Q9QXN0
	NM_020859
	NM_001077595; NM_001077596; NM_015756
	NP_065910
	NP_001071063; NP_001071064; NP_056571
	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.^[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

1 2 3 GRCh38: Ensembl release 89: ENSG00000138771 - Ensembl, May 2017
1 2 3 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.
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. S2CID 17185521.
↑ 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. 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. 138 (20): 4423–32. 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): 227–34. doi:10.1016/j.ydbio.2011.06.027. PMC 3619216. PMID 21726547.

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. 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 Res. 7 (2): 143–50. doi:10.1093/dnares/7.2.143. PMID 10819331.
Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 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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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000138771 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029381 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10589677-5] 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. S2CID 17185521.

[pmid16615870-6] 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.

[entrez-7] 1 2 "Entrez Gene: SHROOM3 shroom family member 3".

[pmid21936905-8] 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.

[9] 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. 137 (3): 405–15. doi:10.1242/dev.045369. PMC 2858910. PMID 20081189.

[10] 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. 138 (20): 4423–32. doi:10.1242/dev.065789. PMC 3177312. PMID 21880782.

[11] 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. PMC 3619216. PMID 21726547.

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Clinical relevance

References

Further reading