PHF8
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| Location (UCSC) | Chr X: 53.94 – 54.05 Mb | Chr X: 150.3 – 150.42 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene.[5]
Function
PHF8 belongs to the family of ferrous iron and alpha-ketoglutarate-dependent hydroxylases superfamily.,[6] and is active as a histone lysine demethylase with selectivity for the di-and monomethyl states.[7] PHF8 induces an EMT (epithelial to mesenchymal transition)-like process by upregulating key EMT transcription factors SNAI1 and ZEB1.
Regulation during differentiation
PHF8 was found to be expressional increased during endothelial differentiation and significantly decreased during cardial differentiation of murine embryonic stem cells.[8]
Clinical significance
Mutations in PHF8 cause Siderius type X-linked intellectual disability (XLMR) (OMIM: 300263).[9][10][11] In addition to moderate
This catalytic activity is disrupted by clinically known mutations to PHF8, which were found to cluster in its catalytic JmjC domain. The F279S mutation of PHF8, found in 2 Finnish brothers with mild
The catalytic activity of PHF8 depends on molecular
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000172943 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041229 – 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.
- ^ "Entrez Gene: PHF8 PHD finger protein 8".
- PMID 18277970.
- ^ PMID 19843542.
- PMID 27199445.
- PMID 10398231.
- ^ "OMIM: Siderius X-linked mental retardation syndrome". Retrieved 2009-10-21.
- ^ "OMIM: PHD finger protein 8; PHF8". Retrieved 2009-10-21.
- PMID 17594395.
- PMID 16199551.
- ^ S2CID 23326755.
- S2CID 22008997.
- PMID 6946511.
- PMID 18383123.
- S2CID 6330050.
External links
- PHF8+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
