PHF6

PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.[5][6]

PHF6
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPHF6, BFLS, BORJ, CENP-31, PHD finger protein 6
External IDsOMIM: 300414 MGI: 1918248 HomoloGene: 12375 GeneCards: PHF6
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq26.2Start134,373,253 bp[1]
End134,428,791 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

84295

70998

Ensembl

ENSG00000156531

ENSMUSG00000025626

UniProt

Q8IWS0

Q9D4J7

RefSeq (mRNA)

NM_032458
NM_001015877
NM_032335

NM_001290546
NM_027642

RefSeq (protein)

NP_001015877
NP_115711
NP_115834

NP_001277475
NP_081918

Location (UCSC)Chr X: 134.37 – 134.43 MbChr X: 52.91 – 52.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 Börjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[6]

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]

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References
  1. GRCh38: Ensembl release 89: ENSG00000156531 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025626 - 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. Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, et al. (December 2002). "Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome". Nature Genetics. 32 (4): 661–5. doi:10.1038/ng1040. PMID 12415272. S2CID 10274037.
  6. "Entrez Gene: PHF6 PHD finger protein 6".
  7. Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N, et al. (April 2010). "PHF6 mutations in T-cell acute lymphoblastic leukemia". Nature Genetics. 42 (4): 338–42. doi:10.1038/ng.542. PMC 2847364. PMID 20228800.
  8. Van Vlierberghe P, Patel J, Abdel-Wahab O, Lobry C, Hedvat CV, Balbin M, et al. (January 2011). "PHF6 mutations in adult acute myeloid leukemia". Leukemia. 25 (1): 130–4. doi:10.1038/leu.2010.247. PMC 3878659. PMID 21030981.
  9. Chao MM, Todd MA, Kontny U, Neas K, Sullivan MJ, Hunter AG, et al. (October 2010). "T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6". Pediatric Blood & Cancer. 55 (4): 722–4. doi:10.1002/pbc.22574. PMC 2933084. PMID 20806366.
  10. Wendorff AA, Quinn SA, Rashkovan M, Madubata CJ, Ambesi-Impiombato A, Litzow MR, et al. (March 2019). "Phf6 Loss Enhances HSC Self-Renewal Driving Tumor Initiation and Leukemia Stem Cell Activity in T-ALL". Cancer Discovery. 9 (3): 436–451. doi:10.1158/2159-8290.CD-18-1005. PMC 6425751. PMID 30567843.
  11. McRae HM, Garnham AL, Hu Y, Witkowski MT, Corbett MA, Dixon MP, et al. (April 2019). "PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia". Blood. 133 (16): 1729–1741. doi:10.1182/blood-2018-07-860726. PMC 6695515. PMID 30755422.
  12. Miyagi S, Sroczynska P, Kato Y, Nakajima-Takagi Y, Oshima M, Rizq O, et al. (June 2019). "The chromatin-binding protein Phf6 restricts the self-renewal of hematopoietic stem cells". Blood. 133 (23): 2495–2506. doi:10.1182/blood.2019000468. PMID 30917958.
  13. Hsu YC, Chen TC, Lin CC, Yuan CT, Hsu CL, Hou HA, et al. (August 2019). "Phf6-null hematopoietic stem cells have enhanced self-renewal capacity and oncogenic potentials". Blood Advances. 3 (15): 2355–2367. doi:10.1182/bloodadvances.2019000391. PMC 6693005. PMID 31395598.

Further reading

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