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; OMA:WDFY3 - orthologs
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 E5|5 48.95 cM Start 101,980,822 bp [2] End 102,217,787 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve Achilles tendon corpus callosum inferior olivary nucleus dorsal motor nucleus of vagus nerve ventricular zone internal globus pallidus ganglionic eminence epithelium of colon optic nerve Top expressed in mammillary body lateral hypothalamus lateral septal nucleus lobe of cerebellum lateral geniculate nucleus cerebellar vermis dorsal tegmental nucleus ventromedial nucleus paraventricular nucleus of hypothalamus medial dorsal nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 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 NM_028124 RefSeq (protein) NP_055806 NP_766470 Location (UCSC) Chr 4: 84.67 – 84.97 Mb Chr 5: 101.98 – 102.22 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.434..724H. doi: 10.1038/nature03466 . PMID   15815621.