DLG5

Disks large homolog 5 is a protein that in humans is encoded by the DLG5 gene.[5][6]

DLG5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UIT
Identifiers
Aliases	DLG5, LP-DLG, P-PDLG, discs large homolog 5, discs large MAGUK scaffold protein 5
External IDs	OMIM: 604090 MGI: 1918478 HomoloGene: 3486 GeneCards: DLG5
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q22.3 Start 77,790,791 bp[1] End 77,926,755 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 A3 Start 24,133,953 bp[2] End 24,245,920 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • beta-catenin binding • cytoskeletal protein binding • GO:0001948 protein binding • receptor signaling complex scaffold activity Cellular component • membrane • cell membrane • cell junction • GO:0097483, GO:0097481 postsynaptic density • ciliary basal body • cytoplasm • cytoskeleton • cell projection • synapse • postsynaptic membrane Biological process • regulation of apoptotic process • polarized epithelial cell differentiation • GO:0007243 intracellular signal transduction • apical protein localization • establishment or maintenance of epithelial cell apical/basal polarity • protein localization to adherens junction • metanephric collecting duct development • epithelial tube branching involved in lung morphogenesis • zonula adherens assembly • midbrain development • signal transduction • negative regulation of cell proliferation • epithelial to mesenchymal transition • maintenance of cell polarity • negative regulation of cell migration • negative regulation of hippo signaling • positive regulation of hippo signaling • negative regulation of T cell proliferation • positive regulation of smoothened signaling pathway • positive regulation of synapse assembly • positive regulation of dendritic spine development • cell-cell adhesion • macromolecular complex assembly Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9231	71228
Ensembl	ENSG00000151208 ENSG00000274429	ENSMUSG00000021782
UniProt	Q8TDM6	E9Q9R9
RefSeq (mRNA)	NM_004747	NM_001163513 NM_027726
RefSeq (protein)	NP_004738	NP_001156985 NP_082002
Location (UCSC)	Chr 10: 77.79 – 77.93 Mb	Chr 14: 24.13 – 24.25 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined.[6]

Interactions

DLG5 has been shown to interact with SORBS3.[7]

References

1. ENSG00000274429 GRCh38: Ensembl release 89: ENSG00000151208, ENSG00000274429 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021782 - 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. Nakamura H, Sudo T, Tsuiki H, Miyake H, Morisaki T, Sasaki J, Masuko N, Kochi M, Ushio Y, Saya H (Sep 1998). "Identification of a novel human homolog of the Drosophila dlg, P-dlg, specifically expressed in the gland tissues and interacting with p55". FEBS Lett. 433 (1–2): 63–7. doi:10.1016/S0014-5793(98)00882-5. PMID 9738934.
6. "Entrez Gene: DLG5 discs, large homolog 5 (Drosophila)".
7. Wakabayashi M, Ito T, Mitsushima M, Aizawa S, Ueda K, Amachi T, Kioka N (2003). "Interaction of lp-dlg/KIAA0583, a membrane-associated guanylate kinase family protein, with vinexin and beta-catenin at sites of cell-cell contact". J. Biol. Chem. 278 (24): 21709–14. doi:10.1074/jbc.M211004200. PMID 12657639.

Further reading

• Newman B, Siminovitch KA (2005). "Recent advances in the genetics of inflammatory bowel disease". Curr. Opin. Gastroenterol. 21 (4): 401–7. PMID 15930978.
• Funke L, Dakoji S, Bredt DS (2005). "Membrane-associated guanylate kinases regulate adhesion and plasticity at cell junctions". Annu. Rev. Biochem. 74 (1): 219–45. doi:10.1146/annurev.biochem.74.082803.133339. PMID 15952887.
• Friedrichs F, Stoll M (2006). "Role of discs large homolog 5". World J. Gastroenterol. 12 (23): 3651–6. PMC 4087456. PMID 16773680.
• Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
• Bowles KR, Abraham SE, Brugada R, et al. (2000). "Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes". Genomics. 67 (2): 109–27. doi:10.1006/geno.2000.6242. PMID 10903836.
• Shah G, Brugada R, Gonzalez O, et al. (2003). "The cloning, genomic organization and tissue expression profile of the human DLG5 gene". BMC Genomics. 3: 6. doi:10.1186/1471-2164-3-6. PMC 77411. PMID 11876824.
• Purmonen S, Ahola TM, Pennanen P, et al. (2002). "HDLG5/KIAA0583, encoding a MAGUK-family protein, is a primary progesterone target gene in breast cancer cells". Int. J. Cancer. 102 (1): 1–6. doi:10.1002/ijc.10665. PMID 12353226.
• 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. PMC 139241. PMID 12477932.
• Wakabayashi M, Ito T, Mitsushima M, et al. (2003). "Interaction of lp-dlg/KIAA0583, a membrane-associated guanylate kinase family protein, with vinexin and beta-catenin at sites of cell-cell contact". J. Biol. Chem. 278 (24): 21709–14. doi:10.1074/jbc.M211004200. PMID 12657639.
• 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.
• Stoll M, Corneliussen B, Costello CM, et al. (2004). "Genetic variation in DLG5 is associated with inflammatory bowel disease". Nat. Genet. 36 (5): 476–80. doi:10.1038/ng1345. PMID 15107852.
• Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Taniuchi K, Nakagawa H, Nakamura T, et al. (2005). "Down-regulation of RAB6KIFL/KIF20A, a kinesin involved with membrane trafficking of discs large homologue 5, can attenuate growth of pancreatic cancer cell". Cancer Res. 65 (1): 105–12. PMID 15665285.
• Daly MJ, Pearce AV, Farwell L, et al. (2005). "Association of DLG5 R30Q variant with inflammatory bowel disease". Eur. J. Hum. Genet. 13 (7): 835–9. doi:10.1038/sj.ejhg.5201403. PMID 15841097.
• Tenesa A, Noble C, Satsangi J, Dunlop M (2006). "Association of DLG5 and inflammatory bowel disease across populations". Eur. J. Hum. Genet. 14 (3): 259–60, author reply 260–1. doi:10.1038/sj.ejhg.5201516. PMID 16391570.
• Gazouli M, Mantzaris G, Archimandritis AJ, et al. (2006). "Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease". World J. Gastroenterol. 11 (47): 7525–30. PMID 16437728.