• Gene id: 57649

Gene Summary

• Gene Symbol: PHF12   Gene   UCSC   Ensembl
• Aliases: PF1
• Gene name: PHD finger protein 12
• Alternate names: PHD finger protein 12, PHD factor 1, PHD zinc finger transcription factor,
• Gene location: 17q11.2 (28951517: 28905249)     Exons: 16     NC_000017.11
• OMIM: 156490

Protein Summary

• Protein general information: Q96QT6  
  • Name: PHD finger protein 12 (PHD factor 1) (Pf1)
  • Length: 1004  
  • Mass: 109698
• Sequence:

  MWEKMETKTIVYDLDTSGGLMEQIQALLAPPKTDEAEKRSRKPEKEPRRSGRATNHDSCDSCKEGGDLLCCDHCP
  AAFHLQCCNPPLSEEMLPPGEWMCHRCTVRRKKREQKKELGHVNGLVDKSGKRTTSPSSDTDLLDRSASKTELKA
  IAHARILERRASRPGTPTSSASTETPTSEQNDVDEDIIDVDEEPVAAEPDYVQPQLRRPFELLIAAAMERNPTQF
  QLPNELTCTTALPGSSKRRRKEETTGKNVKKTQHELDHNGLVPLPVKVCFTCNRSCRVAPLIQCDYCPLLFHMDC
  LEPPLTAMPLGRWMCPNHIEHVVLNQKNMTLSNRCQVFDRFQDTVSQHVVKVDFLNRIHKKHPPNRRVLQSVKRR
  SLKVPDAIKSQYQFPPPLIAPAAIRDGELICNGIPEESQMHLLNSEHLATQAEQQEWLCSVVALQCSILKHLSAK
  QMPSHWDSEQTEKADIKPVIVTDSSVTTSLQTADKTPTPSHYPLSCPSGISTQNSLSCSPPHQSPALEDIGCSSC
  AEKSKKTPCGTANGPVNTEVKANGPHLYSSPTDSTDPRRLPGANTPLPGLSHRQGWPRPLTPPAAGGLQNHTVGI
  IVKTENATGPSSCPQRSLVPVPSLPPSIPSSCASIENTSTLQRKTVQSQIGPPLTDSRPLGSPPNATRVLTPPQA
  AGDGILATTANQRFSSPAPSSDGKVSPGTLSIGSALTVPSFPANSTAMVDLTNSLRAFMDVNGEIEINMLDEKLI
  KFLALQRIHQLFPSRVQPSPGSVGTHQLASGGHHIEVQRKEVQARAVFYPLLGLGGAVNMCYRTLYIGTGADMDV
  CLTNYGHCNYVSGKHACIFYDENTKHYELLNYSEHGTTVDNVLYSCDFSEKTPPTPPSSIVAKVQSVIRRRRHQK
  QDEEPSEEAAMMSSQAQGPQRRPCNCKASSSSLIGGSGAGWEGTALLHHGSYIKLGCLQFVFSITEFATKQPKGD
  ASLLQDGVLAEKLSLKPHQGPVLRSNSVP

• Structural information:
  • Protein Domains: (815..86-)
    (/note="FHA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00086"-)
  • Interpro: IPR036427  IPR000253  IPR042163  IPR031966  IPR038098   IPR008984  IPR019786  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS50006 PS01359 PS50016
  • CDD: cd00060
  • PDB: 2L9S 2LKM
  • PDBsum: 2L9S 2LKM
  • DIP: 59632
  • STRING: ENSP00000329933
• Other Databases: GeneCards:  PHF12  Malacards:  PHF12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003712	transcription coregulator activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0070822	Sin3-type complex	IBA	cellular component
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016580	Sin3 complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001222	transcription corepressor binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray