Homo sapiens Gene: PHF8
Summary
InnateDB Gene IDBG-70682.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PHF8
Gene Name PHD finger protein 8
Synonyms JHDM1F; MRXSSD; ZNF422;
Species Homo sapiens
Ensembl Gene ENSG00000172943
Encoded Proteins
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
PHD finger protein 8
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Defects in this gene are a cause of mental retardation syndromic X-linked Siderius type (MRXSSD). Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome X:53936676-54048958
Strand Reverse strand
Band p11.22
Transcripts
ENST00000357988 ENSP00000350676
ENST00000338154 ENSP00000338868
ENST00000338946 ENSP00000340051
ENST00000322659 ENSP00000319473
ENST00000396282 ENSP00000379578
ENST00000443302 ENSP00000397129
ENST00000413386 ENSP00000388796
ENST00000448003 ENSP00000414028
ENST00000425862 ENSP00000408113
ENST00000437224 ENSP00000398995
ENST00000415025 ENSP00000404117
ENST00000453905 ENSP00000405897
ENST00000445025 ENSP00000416546
ENST00000433120 ENSP00000410100
ENST00000470103
ENST00000494928
ENST00000490635
ENST00000462182
ENST00000615775 ENSP00000482159
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
Experimentally validated
Total 46 [view]
Protein-Protein 41 [view]
Protein-DNA 5 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
GO:0005506 iron ion binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
GO:0032452 histone demethylase activity
GO:0032454 histone demethylase activity (H3-K9 specific)
GO:0035064 methylated histone binding
GO:0035575 histone demethylase activity (H4-K20 specific)
GO:0051864 histone demethylase activity (H3-K36 specific)
GO:0071558 histone demethylase activity (H3-K27 specific)
Biological Process
GO:0000082 G1/S transition of mitotic cell cycle
GO:0000278 mitotic cell cycle
GO:0006351 transcription, DNA-templated
GO:0007420 brain development
GO:0033169 histone H3-K9 demethylation
GO:0035574 histone H4-K20 demethylation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045943 positive regulation of transcription from RNA polymerase I promoter
GO:0055114 oxidation-reduction process
GO:0061188 negative regulation of chromatin silencing at rDNA
GO:0070544 histone H3-K36 demethylation
GO:0071557 histone H3-K27 demethylation
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0015630 microtubule cytoskeleton
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
HDMs demethylate histones pathway
Chromatin organization pathway
Chromatin modifying enzymes pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.731707
RefSeq NM_001184896 NM_001184897 NM_001184898 NM_015107 XM_005261996 XM_005261998 XM_005261999 XM_005262000
HUGO
OMIM
CCDS CCDS14355 CCDS55418 CCDS55419 CCDS55420
HPRD 06599
IMGT
EMBL
GenPept
RNA Seq Atlas