WDFY3

WDFY3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3WIM
Identifiers
Aliases	WDFY3 , ALFY, ZFYVE25, WD repeat and FYVE domain containing 3, BCHS, MCPH18
External IDs	OMIM: 617485 MGI: 1096875 HomoloGene: 22855 GeneCards: WDFY3
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4q21.23 Start 84,669,597 bp [1] End 84,966,690 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5 E4-E5|5 48.95 cM Start 101,832,956 bp [2] End 102,069,921 bp [2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • 1-phosphatidylinositol binding • beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity • metal ion binding • lipid binding Cellular component • Atg12-Atg5-Atg16 complex • PML body • nuclear membrane • nuclear envelope • extrinsic component of membrane • extrinsic component of autophagosome membrane • autophagosome • cytoplasm • inclusion body • membrane • nucleus • nucleolus • plasma membrane • cytosol • axon • cell projection • perikaryon Biological process • aggrephagy • autophagy • multicellular organism development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23001	72145
Ensembl	ENSG00000163625	ENSMUSG00000043940
UniProt	Q8IZQ1	Q6VNB8
RefSeq (mRNA)	NM_014991 NM_178583 NM_178585	NM_172882
RefSeq (protein)	NP_055806	NP_766470
Location (UCSC)	Chr 4: 84.67 – 84.97 Mb	Chr 5: 101.83 – 102.07 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

WD repeat and FYVE domain-containing protein 3 is a protein that in humans is encoded by the WDFY3 gene. ^{[5] [6]}

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. ^[6]

Biochemistry

This protein appears to act as a autophagy scaffolding protein. ^[7]

Clinical

Mutations in this gene have been associated with neurodevelopmental delay, intellectual disability, macrocephaly and psychiatric disorders (autism spectrum disorders/attention deficit hyperactivity disorder). ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000163625 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000043940 - 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. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Jul 1999). "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. doi: 10.1093/dnares/6.1.63 . PMID   10231032.
6. "Entrez Gene: WDFY3 WD repeat and FYVE domain containing 3".
7. 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

Further reading

• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi: 10.1093/dnares/9.3.99 . PMID   12168954.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID   8619474.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC   139146 . PMID   9110174.
• 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.
• 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.
• 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.
• Simonsen A, Birkeland HC, Gillooly DJ, et al. (2005). "Alfy, a novel FYVE-domain-containing protein associated with protein granules and autophagic membranes". J. Cell Sci. 117 (Pt 18): 4239–51. doi: 10.1242/jcs.01287 . PMID   15292400.
• 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.
• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi: 10.1038/nature03466 . PMID   15815621.