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PHF8

The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Full Name
PHF8
Function
Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9' residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 'Lys-36' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3.
Biological Process
Brain developmentISS:UniProtKB
Chromatin organizationIEA:UniProtKB-KW
G1/S transition of mitotic cell cycleManual Assertion Based On ExperimentIMP:UniProtKB
Histone H3-K27 demethylationManual Assertion Based On ExperimentIDA:UniProtKB
Histone H3-K36 demethylationManual Assertion Based On ExperimentIDA:UniProtKB
Histone H3-K9 demethylationManual Assertion Based On ExperimentIDA:UniProtKB
Histone H4-K20 demethylationManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of ribosomal DNA heterochromatin assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription by RNA polymerase IManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Protein demethylationManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Nucleus
Nucleus, nucleolus
Recruited to H3K4me3 sites on chromatin during interphase (PubMed:20622854).
Dissociates from chromatin when cells enter mitosis (PubMed:20622854).
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic, Siderius type (MRXSSD):
A syndrome characterized by mild to borderline mental retardation with or without cleft lip/cleft palate.
PTM
Phosphorylation at Ser-69 and Ser-120 are required for dissociation from chromatin and accumulation of H4K20Me1 levels during prophase.

Anti-PHF8 antibodies

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Target: PHF8
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 9H6
Application*: E, M
Target: PHF8
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 7G3
Application*: E, M
Target: PHF8
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 5G10
Application*: E, M
Target: PHF8
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 3F9
Application*: E, M
Target: PHF8
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 11G11
Application*: E, M
Target: PHF8
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Monkey
Clone: E9R4F
Application*: WB, IP, F, CI
Target: PHF8
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat, Monkey
Clone: E6K3Y
Application*: WB, IP, CI, CI-seq
Target: PHF8
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBYC-P347
Application*: WB, IP, IC, IF
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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