• Gene id: 23133

Gene Summary

• Gene Symbol: PHF8   Gene   UCSC   Ensembl
• Aliases: JHDM1F, KDM7B, MRXSSD, ZNF422
• Gene name: PHD finger protein 8
• Alternate names: histone lysine demethylase PHF8, jumonji C domain-containing histone demethylase 1F,
• Gene location: Xp11.22 (54048934: 53936679)     Exons: 9     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300560

Protein Summary

• Protein general information: Q9UPP1  
  • Name: Histone lysine demethylase PHF8 (EC 1.14.11.27) (PHD finger protein 8)
  • Length: 1060  
  • Mass: 117864
• Sequence:

  MNRSRAIVQRGRVLPPPAPLDTTNLAGRRTLQGRAKMASVPVYCLCRLPYDVTRFMIECDMCQDWFHGSCVGVEE
  EKAADIDLYHCPNCEVLHGPSIMKKRRGSSKGHDTHKGKPVKTGSPTFVRELRSRTFDSSDEVILKPTGNQLTVE
  FLEENSFSVPILVLKKDGLGMTLPSPSFTVRDVEHYVGSDKEIDVIDVTRQADCKMKLGDFVKYYYSGKREKVLN
  VISLEFSDTRLSNLVETPKIVRKLSWVENLWPEECVFERPNVQKYCLMSVRDSYTDFHIDFGGTSVWYHVLKGEK
  IFYLIRPTNANLTLFECWSSSSNQNEMFFGDQVDKCYKCSVKQGQTLFIPTGWIHAVLTPVDCLAFGGNFLHSLN
  IEMQLKAYEIEKRLSTADLFRFPNFETICWYVGKHILDIFRGLRENRRHPASYLVHGGKALNLAFRAWTRKEALP
  DHEDEIPETVRTVQLIKDLAREIRLVEDIFQQNVGKTSNIFGLQRIFPAGSIPLTRPAHSTSVSMSRLSLPSKNG
  SKKKGLKPKELFKKAERKGKESSALGPAGQLSYNLMDTYSHQALKTGSFQKAKFNITGACLNDSDDDSPDLDLDG
  NESPLALLMSNGSTKRVKSLSKSRRTKIAKKVDKARLMAEQVMEDEFDLDSDDELQIDERLGKEKATLIIRPKFP
  RKLPRAKPCSDPNRVREPGEVEFDIEEDYTTDEDMVEGVEGKLGNGSGAGGILDLLKASRQVGGPDYAALTEAPA
  SPSTQEAIQGMLCMANLQSSSSSPATSSLQAWWTGGQDRSSGSSSSGLGTVSNSPASQRTPGKRPIKRPAYWRTE
  SEEEEENASLDEQDSLGACFKDAEYIYPSLESDDDDPALKSRPKKKKNSDDAPWSPKARVTPTLPKQDRPVREGT
  RVASIETGLAAAAAKLAQQELQKAQKKKYIKKKPLLKEVEQPRPQDSNLSLTVPAPTVAATPQLVTSSSPLPPPE
  PKQEALSGSLADHEYTARPNAFGMAQANRSTTPMAPGVFLTQRRPSVGSQSNQAGQGKRPKKGLATAKQRLGRIL
  KIHRNGKLLL

• Structural information:
  • Protein Domains: (231..38-)
    (/note="JmjC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00538"-)
  • Interpro: IPR041070  IPR003347  IPR019786  IPR011011  IPR001965   IPR019787  
  • Prosite: PS51184 PS01359 PS50016
  • PDB: 2WWU 3K3N 3K3O 3KV4 4DO0
  • PDBsum: 2WWU 3K3N 3K3O 3KV4 4DO0
  • DIP: 38913
  • STRING: ENSP00000350676
• Other Databases: GeneCards:  PHF8  Malacards:  PHF8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071558	histone demethylase activity (H3-K27 specific)	IDA	molecular function
GO:0071558	histone demethylase activity (H3-K27 specific)	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0035574	histone H4-K20 demethylation	IDA	biological process
GO:0035574	histone H4-K20 demethylation	IDA	biological process
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0033169	histone H3-K9 demethylation	IDA	biological process
GO:0033169	histone H3-K9 demethylation	IDA	biological process
GO:0033169	histone H3-K9 demethylation	IDA	biological process
GO:0033169	histone H3-K9 demethylation	IDA	biological process
GO:0033169	histone H3-K9 demethylation	IDA	biological process
GO:0032454	histone demethylase activity (H3-K9 specific)	IDA	molecular function
GO:0032454	histone demethylase activity (H3-K9 specific)	IDA	molecular function
GO:0032454	histone demethylase activity (H3-K9 specific)	IDA	molecular function
GO:0032454	histone demethylase activity (H3-K9 specific)	IDA	molecular function
GO:0032454	histone demethylase activity (H3-K9 specific)	IDA	molecular function
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005506	iron ion binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0071557	histone H3-K27 demethylation	IDA	biological process
GO:0071557	histone H3-K27 demethylation	IDA	biological process
GO:0070544	histone H3-K36 demethylation	IDA	biological process
GO:0070544	histone H3-K36 demethylation	IDA	biological process
GO:0061188	negative regulation of ribosomal DNA heterochromatin assembly	IDA	biological process
GO:0051864	histone demethylase activity (H3-K36 specific)	IDA	molecular function
GO:0051864	histone demethylase activity (H3-K36 specific)	IDA	molecular function
GO:0045943	positive regulation of transcription by RNA polymerase I	IDA	biological process
GO:0035575	histone demethylase activity (H4-K20 specific)	IDA	molecular function
GO:0035575	histone demethylase activity (H4-K20 specific)	IDA	molecular function
GO:0005634	nucleus	IC	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IMP	biological process
GO:0007420	brain development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0032454	histone demethylase activity (H3-K9 specific)	IEA	molecular function
GO:0051864	histone demethylase activity (H3-K36 specific)	IEA	molecular function
GO:0032452	histone demethylase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0032452	histone demethylase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Syndromic X-linked mental retardation	KEGG:H00658
Syndromic X-linked mental retardation	KEGG:H00658
Prostate cancer	PMID:22120715
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881