WDFY3

Protein-coding gene in the species Homo sapiens
WDFY3
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3WIM

Identifiers
AliasesWDFY3, ALFY, ZFYVE25, WD repeat and FYVE domain containing 3, BCHS, MCPH18
External IDsOMIM: 617485; MGI: 1096875; HomoloGene: 22855; GeneCards: WDFY3; OMA:WDFY3 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for WDFY3
Genomic location for WDFY3
Band4q21.23Start84,669,597 bp[1]
End84,966,690 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for WDFY3
Genomic location for WDFY3
Band5 E5|5 48.95 cMStart101,980,822 bp[2]
End102,217,787 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 5: 101.98 – 102.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000163625 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: WDFY3 WD repeat and FYVE domain containing 3".
  7. ^ a b 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.


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