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PHD Finger Protein 6 (PHF6)

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BORJ; BFLS; CENP-31; PHD-like zinc finger protein

PHD Finger Protein 6 (PHF6)
CCC H374
HGNC 18145
MGI 1918248
PubMed 21030981
UniProt Q8IWS0
Wiki PHF6
is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus.
Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant PHD Finger Protein 6 (PHF6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to PHD Finger Protein 6 (PHF6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to PHD Finger Protein 6 (PHF6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for PHD Finger Protein 6 (PHF6) CLIA Kit Customized Service Offer
n/a ELISA Kit for PHD Finger Protein 6 (PHF6) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant PHD Finger Protein 6 (PHF6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to PHD Finger Protein 6 (PHF6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to PHD Finger Protein 6 (PHF6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for PHD Finger Protein 6 (PHF6) CLIA Kit Customized Service Offer
n/a ELISA Kit for PHD Finger Protein 6 (PHF6) ELISA Kit Customized Service Offer
  1. "Mutations in PHF6 are associated with Boerjeson-Forssman-Lehmann syndrome." Nat. Genet. 32:661-665(2002) [PubMed] [Europe PMC] [Abstract]
  2. "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 Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  7. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  9. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  12. "The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics."Cell 142:810-821(2010) [PubMed] [Europe PMC] [Abstract]
  13. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  14. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  15. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  16. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  17. "PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis."J. Biol. Chem. 288:3174-3183(2013) [PubMed] [Europe PMC] [Abstract]
  18. "Structural and functional insights into the human Borjeson-Forssman-Lehmann syndrome-associated protein PHF6."J. Biol. Chem. 289:10069-10083(2014) [PubMed] [Europe PMC] [Abstract]