• Gene id: 54623

Gene Summary

• Gene Symbol: PAF1   Gene   UCSC   Ensembl
• Aliases: F23149_1, PD2
• Gene name: PAF1 homolog, Paf1/RNA polymerase II complex component
• Alternate names: RNA polymerase II-associated factor 1 homolog, Paf1, RNA polymerase II associated factor, homolog, pancreatic differentiation protein 2,
• Gene location: 19q13.2 (63681314: 63759890)     Exons: 11     NC_000011.10
• Gene summary(Entrez): This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alter
• OMIM: 610506

Protein Summary

• Protein general information: Q8N7H5  
  • Name: RNA polymerase II associated factor 1 homolog (hPAF1) (Pancreatic differentiation protein 2)
  • Length: 531  
  • Mass: 59976
• Sequence:

  MAPTIQTQAQREDGHRPNSHRTLPERSGVVCRVKYCNSLPDIPFDPKFITYPFDQNRFVQYKATSLEKQHKHDLL
  TEPDLGVTIDLINPDTYRIDPNVLLDPADEKLLEEEIQAPTSSKRSQQHAKVVPWMRKTEYISTEFNRYGISNEK
  PEVKIGVSVKQQFTEEEIYKDRDSQITAIEKTFEDAQKSISQHYSKPRVTPVEVMPVFPDFKMWINPCAQVIFDS
  DPAPKDTSGAAALEMMSQAMIRGMMDEEGNQFVAYFLPVEETLKKRKRDQEEEMDYAPDDVYDYKIAREYNWNVK
  NKASKGYEENYFFIFREGDGVYYNELETRVRLSKRRAKAGVQSGTNALLVVKHRDMNEKELEAQEARKAQLENHE
  PEEEEEEEMETEEKEAGGSDEEQEKGSSSEKEGSEDEHSGSESEREEGDRDEASDKSGSGEDESSEDEARAARDK
  EEIFGSDADSEDDADSDDEDRGQAQGGSDNDSDSGSNGGGQRSRSHSRSASPFPSGSEHSAQEDGSEAAASDSSE
  ADSDSD

• Structural information:
  • Interpro: IPR007133  
  • PDB: 4M6T 5ZYQ 6GMH
  • PDBsum: 4M6T 5ZYQ 6GMH
  • DIP: 48673
  • STRING: ENSP00000221265
• Other Databases: GeneCards:  PAF1  Malacards:  PAF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0034504	protein localization to nucleus	IMP	biological process
GO:0016584	nucleosome positioning	IMP	biological process
GO:0031062	positive regulation of histone methylation	IMP	biological process
GO:0016020	membrane	IDA	cellular component
GO:0000993	RNA polymerase II complex binding	IBA	molecular function
GO:0016593	Cdc73/Paf1 complex	IBA	cellular component
GO:0003682	chromatin binding	IBA	molecular function
GO:0035327	transcriptionally active chromatin	IBA	cellular component
GO:0045638	negative regulation of myeloid cell differentiation	IDA	biological process
GO:0016593	Cdc73/Paf1 complex	IDA	cellular component
GO:0000993	RNA polymerase II complex binding	IDA	molecular function
GO:0071222	cellular response to lipopolysaccharide	ISS	biological process
GO:0031442	positive regulation of mRNA 3'-end processing	IMP	biological process
GO:0001711	endodermal cell fate commitment	ISS	biological process
GO:1902808	positive regulation of cell cycle G1/S phase transition	IMP	biological process
GO:0006378	mRNA polyadenylation	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0016570	histone modification	IEA	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0016593	Cdc73/Paf1 complex	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0016567	protein ubiquitination	TAS	biological process
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: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:0006366	transcription by RNA polymerase II	TAS	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: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:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0001711	endodermal cell fate commitment	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0016593	Cdc73/Paf1 complex	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0006368	transcription elongation from RNA polymerase II promoter	IDA	biological process
GO:0010390	histone monoubiquitination	IDA	biological process
GO:0016593	Cdc73/Paf1 complex	IDA	cellular component
GO:0033523	histone H2B ubiquitination	IDA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq