• Gene id: 55274

Gene Summary

• Gene Symbol: PHF10   Gene   UCSC   Ensembl
• Aliases: BAF45A, XAP135
• Gene name: PHD finger protein 10
• Alternate names: PHD finger protein 10, BRG1-associated factor 45a, BRG1-associated factor, 45-KD, A, PHD zinc finger protein XAP135,
• Gene location: 6q27 (169724499: 169703901)     Exons: 1     NC_000006.12
• Gene summary(Entrez): This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the
• OMIM: 613069

Protein Summary

• Protein general information: Q8WUB8  
  • Name: PHD finger protein 10 (BRG1 associated factor 45a) (BAF45a) (XAP135)
  • Length: 498  
  • Mass: 56051
• Sequence:

  MAAAAGPGAALSPRPCDSDPATPGAQSPKDDNEDNSNDGTQPSKRRRMGSGDSSRSCETSSQDLGFSYYPAENLI
  EYKWPPDETGEYYMLQEQVSEYLGVTSFKRKYPDLERRDLSHKEKLYLRELNVITETQCTLGLTALRSDEVIDLM
  IKEYPAKHAEYSVILQEKERQRITDHYKEYSQMQQQNTQKVEASKVPEYIKKAAKKAAEFNSNLNRERMEERRAY
  FDLQTHVIQVPQGKYKVLPTERTKVSSYPVALIPGQFQEYYKRYSPDELRYLPLNTALYEPPLDPELPALDSDGD
  SDDGEDGRGDEKRKNKGTSDSSSGNVSEGESPPDSQEDSFQGRQKSKDKAATPRKDGPKRSVLSKSVPGYKPKVI
  PNAICGICLKGKESNKKGKAESLIHCSQCENSGHPSCLDMTMELVSMIKTYPWQCMECKTCIICGQPHHEEEMMF
  CDMCDRGYHTFCVGLGAIPSGRWICDCCQRAPPTPRKVGRRGKNSKEG

• Structural information:
  • Interpro: IPR038045  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS01359 PS50016
  • STRING: ENSP00000341805
• Other Databases: GeneCards:  PHF10  Malacards:  PHF10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000123	histone acetyltransferase complex	IBA	cellular component
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0004402	histone acetyltransferase activity	IBA	molecular function
GO:0042393	histone binding	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0071564	npBAF complex	ISS	cellular component
GO:0071564	npBAF complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016573	histone acetylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R