WDFY3 explained

WD repeat and FYVE domain-containing protein 3 is a protein that in humans is encoded by the WDFY3 gene.^{[1] [2]}

This gene encodes a protein which contains WD repeats and an FYVE domain. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined.^[2]

Biochemistry

This protein appears to act as a autophagy scaffolding protein.^[3]

Clinical

Mutations in this gene have been associated with neurodevelopmental delay, intellectual disability, macrocephaly and psychiatric disorders (autism spectrum disorders/attention deficit hyperactivity disorder).^[4]

Further reading

• Nakajima D, Okazaki N, Yamakawa H, etal . Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. . DNA Res. . 9 . 3 . 99–106 . 2003 . 12168954 . 10.1093/dnares/9.3.99 . free .
• Andersson B, Wentland MA, Ricafrente JY, etal . A "double adaptor" method for improved shotgun library construction. . Anal. Biochem. . 236 . 1 . 107–13 . 1996 . 8619474 . 10.1006/abio.1996.0138 .
• Yu W, Andersson B, Worley KC, etal . Large-scale concatenation cDNA sequencing. . Genome Res. . 7 . 4 . 353–8 . 1997 . 9110174 . 10.1101/gr.7.4.353. 139146 .
• Toward a complete human genome sequence. . Genome Res. . 8 . 11 . 1097–108 . 1999 . 9847074 . 10.1101/gr.8.11.1097. free . Sanger Centre . The . Washington University Genome Sequencing Cente . The .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Simonsen A, Birkeland HC, Gillooly DJ, etal . Alfy, a novel FYVE-domain-containing protein associated with protein granules and autophagic membranes. . J. Cell Sci. . 117 . Pt 18 . 4239–51 . 2005 . 15292400 . 10.1242/jcs.01287 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Hillier LW, Graves TA, Fulton RS, etal . Generation and annotation of the DNA sequences of human chromosomes 2 and 4. . Nature . 434 . 7034 . 724–31 . 2005 . 15815621 . 10.1038/nature03466 . 2005Natur.434..724H . free .

Notes and References

1. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Res . 6 . 1 . 63–70 . Jul 1999 . 10231032 . 10.1093/dnares/6.1.63 . free .
2. Web site: Entrez Gene: WDFY3 WD repeat and FYVE domain containing 3.
3. Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB10, Hildebrand MS12,17, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S11, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R (2019) Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain
4. Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB10, Hildebrand MS12,17, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S11, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R (2019) Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain