WDR62
| WDR62 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) |
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| Location (UCSC) | Chr 19: 36.05 – 36.11 Mb | Chr 7: 29.94 – 29.98 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
WD repeat-containing protein 62 is a protein that in humans is encoded by the WDR62 gene.[5][6]
Function
WDR62 is a scaffold protein and interacts with different kinases. WDR62 plays a role in mediating activation of the
WDR62 effect on neurogenesis is regulated by MEKK3 in coordination with FBW7 (F-box and WD repeat domain-containing protein 7).[9]
WDR62 has been shown to have a regulatory role on hippocampus development and neurogenesis.[10]
WDR62 is also involved in male spermatogenesis with an essential role in centriole duplication and manchette removal during the spermatogenesis process. The deficiency of WDR62 results in low sperm counts with defected motility, and abnormal morphology.[11]
Clinical significance
Mutations in the WDR62 gene cause of a wide spectrum of severe cerebral cortical malformations including
Cortical malformation, associated with WDR62 point mutations occurring in humans (V65M and R438H) has been linked to
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000075702 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037020 – 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.
- ^ PMID 20729831.
- ^ "Entrez Gene: WDR62 WD repeat domain 62".
- PMID 30091641.
- PMID 32246948.
- PMID 30566428.
- PMID 3042990.
- PMID 34059773.
- S2CID 45190332.
- PMID 21834044.
- PMID 31816041.
Further reading
- Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. PMID 8889548.
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. PMID 15302935.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. S2CID 4427026.
- Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (April 2006). "Phosphoproteome analysis of the human mitotic spindle". Proceedings of the National Academy of Sciences of the United States of America. 103 (14): 5391–5396. PMID 16565220.
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. S2CID 7827573.
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