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) [1] Band 4q21.1 Start 76,435,229 bp [1] End 76,783,253 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5 E2|5 47.29 cM Start 92,831,294 bp [2] End 93,113,177 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 57619 27428 Ensembl ENSG00000138771 ENSMUSG00000029381 UniProt Q8TF72 Q9QXN0 RefSeq (mRNA) NM_020859 NM_001077595 NM_001077596 NM_015756 RefSeq (protein) NP_065910 NP_001071063 NP_001071064 NP_056571 Location (UCSC) Chr 4: 76.44 – 76.78 Mb Chr 5: 92.83 – 93.11 Mb PubMed search [3] [4]
Wikidata
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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

1. GRCh38: Ensembl release 89: ENSG00000138771 - Ensembl, May 2017
2. 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.
5. 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.
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.
7. "Entrez Gene: SHROOM3 shroom family member 3".
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.

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. 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.