• Gene id: 5252

Gene Summary

• Gene Symbol: PHF1   Gene   UCSC   Ensembl
• Aliases: MTF2L2, PCL1, PHF2, TDRD19C, hPHF1
• Gene name: PHD finger protein 1
• Alternate names: PHD finger protein 1, hPCl1, polycomb-like 1, polycomb-like protein 1, testicular tissue protein Li 140, tudor domain containing 19C,
• Gene location: 6p21.32 (33410750: 33416442)     Exons: 16     NC_000006.12
• Gene summary(Entrez): This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand brea
• OMIM: 602881

Protein Summary

• Protein general information: O43189  
  • Name: PHD finger protein 1 (Protein PHF1) (hPHF1) (Polycomb like protein 1) (hPCl1)
  • Length: 567  
  • Mass: 62106
  • Tissue specificity: Highest levels in heart, skeletal muscle, and pancreas, lower levels in brain, placenta, lung, liver and kidney.
• Sequence:

  MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLW
  KDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGA
  LKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLY
  GDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKYFDFDREILPFTSENWDSLLLGELSDTPKGE
  RSSRLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTSFPSGQGPGGGVSRPLGKRRRPEPEP
  LRRRQKGKVEELGPPSAVRNQPEPQEQRERAHLQRALQASVSPPSPSPNQSYQGSSGYNFRPTDARCLPSSPIRM
  FASFHPSASTAGTSGDSGPPDRSPLELHIGFPTDIPKSAPHSMTASSSSVSSPSPGLPRRSAPPSPLCRSLSPGT
  GGGVRGGVGYLSRGDPVRVLARRVRPDGSVQYLVEWGGGGIF

• Structural information:
  • Protein Domains: (29..8-)
    (/note="Tudor"-)
  • Interpro: IPR040477  IPR025894  IPR031202  IPR002999  IPR019786   IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS01359 PS50016
  • PDB: 2E5P 2M0O 4HCZ 5XFN 5XFO 5XFP
  • PDBsum: 2E5P 2M0O 4HCZ 5XFN 5XFO 5XFP
  • DIP: 34001
  • STRING: ENSP00000363640
• Other Databases: GeneCards:  PHF1  Malacards:  PHF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0003682	chromatin binding	IBA	molecular function
GO:0006325	chromatin organization	IBA	biological process
GO:0035064	methylated histone binding	IBA	molecular function
GO:0035098	ESC/E(Z) complex	IBA	colocalizes with
GO:0035098	ESC/E(Z) complex	IDA	colocalizes with
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035861	site of double-strand break	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0061087	positive regulation of histone H3-K27 methylation	IMP	biological process
GO:0061086	negative regulation of histone H3-K27 methylation	IMP	biological process
GO:0031060	regulation of histone methylation	IEA	biological process
GO:0035064	methylated histone binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
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: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: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: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: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: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: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: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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0035064	methylated histone binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	colocalizes with

Diseases

Associated diseases	References
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881