PHF6
| PHF6 | |||
|---|---|---|---|
Gene ontology | |||
| Molecular function |
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| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr X: 134.37 – 134.43 Mb | Chr X: 52 – 52.05 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.[5][6]
This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two atypical PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus.[6]
Mutations
Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with
The PHF6 gene in humans is also frequently mutated in human hematological malignancies, including T-cell acute lymphoblastic Leukemia (T-ALL)[7] and Acute Myeloid Leukemia (AML)[8] and at least two BFLS patients have developed leukemia or lymphoma.[9] PHF6 has been shown to be important for the regulation of blood stem and progenitor cells[10][11][12][13] and loss of PHF6 protein synergizes with over-expression of the TLX3 protein to cause lymphoid neoplasms.[11]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000156531 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025626 – 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.
- S2CID 10274037.
- ^ a b c "Entrez Gene: PHF6 PHD finger protein 6".
- PMID 20228800.
- PMID 21030981.
- PMID 20806366.
- PMID 30567843.
- ^ PMID 30755422.
- PMID 30917958.
- PMID 31395598.
Further reading
- Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (April 2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 8 (2): 85–95. PMID 11347906.
- Baumstark A, Lower KM, Sinkus A, Andriuskeviciute I, Jurkeniene L, Gécz J, Just W (April 2003). "Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome". Journal of Medical Genetics. 40 (4): 50e–50. PMID 12676923.
- Dattani MT (December 2003). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". Journal of Pediatric Endocrinology & Metabolism. 16 (9): 1207–9. S2CID 45542882.
- Birrell G, Lampe A, Richmond S, Bruce SN, Gécz J, Lower K, et al. (December 2003). "Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency". Journal of Pediatric Endocrinology & Metabolism. 16 (9): 1295–300. S2CID 10327867.
- Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, et al. (March 2004). "The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations". Clinical Genetics. 65 (3): 226–32. S2CID 24602739.
- Lower KM, Solders G, Bondeson ML, Nelson J, Brun A, Crawford J, et al. (October 2004). "1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family". European Journal of Human Genetics. 12 (10): 787–9. S2CID 7327686.
- Vallée D, Chevrier E, Graham GE, Lazzaro MA, Lavigne PA, Hunter AG, Picketts DJ (October 2004). "A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome". Journal of Medical Genetics. 41 (10): 778–83. PMID 15466013.
- Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. S2CID 4344740.
- Crawford J, Lower KM, Hennekam RC, Van Esch H, Mégarbané A, Lynch SA, et al. (March 2006). "Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient". Journal of Medical Genetics. 43 (3): 238–43. PMID 15994862.
- 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): 635–48. S2CID 7827573.
External links
- PHF6+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.
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