WDFY3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesWDFY3, ALFY, ZFYVE25, WD repeat and FYVE domain containing 3, BCHS, MCPH18
External IDsOMIM: 617485 MGI: 1096875 HomoloGene: 22855 GeneCards: WDFY3
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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163625 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: WDFY3 WD repeat and FYVE domain containing 3".
  7. 1 2 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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.