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]
End	84,966,690 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	102,217,787 bp[2]
RNA expression pattern
	Top expressed in
	sural nerve; ; Achilles tendon; ; corpus callosum; ; inferior olivary nucleus; ; internal globus pallidus; ; ganglionic eminence; ; optic nerve; ; postcentral gyrus; ; cerebellar vermis; ; Brodmann area 23;
	Top expressed in
	mammillary body; ; lateral hypothalamus; ; lateral geniculate nucleus; ; cerebellar vermis; ; dorsal tegmental nucleus; ; ventromedial nucleus; ; paraventricular nucleus of hypothalamus; ; medial dorsal nucleus; ; medial vestibular nucleus; ; dorsomedial hypothalamic nucleus;
	More reference expression data
	; ; ; ;
	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
	23001
	72145
	ENSG00000163625
	ENSMUSG00000043940
	Q8IZQ1
	Q6VNB8
	NM_014991; NM_178583; NM_178585
	NM_172882; NM_028124
	NP_055806
	NP_766470
	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

GRCh38: Ensembl release 89: ENSG00000163625 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000043940 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Entrez Gene: WDFY3 WD repeat and FYVE domain containing 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

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163625 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10231032-5] 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.

[entrez-6] "Entrez Gene: WDFY3 WD repeat and FYVE domain containing 3".

[LeDuc2019-7] 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

WDFY3

Biochemistry

Clinical

References

Further reading