• Gene id: 23168

Gene Summary

• Gene Symbol: RTF1   Gene   UCSC   Ensembl
• Aliases: GTL7, KIAA0252
• Gene name: RTF1 homolog, Paf1/RNA polymerase II complex component
• Alternate names: RNA polymerase-associated protein RTF1 homolog, Rtf1, Paf1/RNA polymerase II complex component, homolog, ortholog of mouse gene trap locus 7,
• Gene location: 15q15.1 (41417103: 41483562)     Exons: 18     NC_000015.10
• Gene summary(Entrez): This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]
• OMIM: 611633

Protein Summary

• Protein general information: Q92541  
  • Name: RNA polymerase associated protein RTF1 homolog
  • Length: 710  
  • Mass: 80313
• Sequence:

  MRGRLCVGRAAAAAAAVAVPLAGGQEGSPGGGRRGSRGTTMVKKRKGRVVIDSDTEDSGSDENLDQELLSLAKRK
  RSDSEEKEPPVSQPAASSDSETSDSDDEWTFGSNKNKKKGKARKIEKKGTMKKQANKTASSGSSDKDSSAESSAP
  EEGEVSDSDSNSSSSSSDSDSSSEDEEFHDGYGEDLMGDEEDRARLEQMTEKEREQELFNRIEKREVLKRRFEIK
  KKLKTAKKKEKKEKKKKQEEEQEKKKLTQIQESQVTSHNKERRSKRDEKLDKKSQAMEELKAEREKRKNRTAELL
  AKKQPLKTSEVYSDDEEEEEDDKSSEKSDRSSRTSSSDEEEEKEEIPPKSQPVSLPEELNRVRLSRHKLERWCHM
  PFFAKTVTGCFVRIGIGNHNSKPVYRVAEITGVVETAKVYQLGGTRTNKGLQLRHGNDQRVFRLEFVSNQEFTES
  EFMKWKEAMFSAGMQLPTLDEINKKELSIKEALNYKFNDQDIEEIVKEKERFRKAPPNYAMKKTQLLKEKAMAED
  LGDQDKAKQIQDQLNELEERAEALDRQRTKNISAISYINQRNREWNIVESEKALVAESHNMKNQQMDPFTRRQCK
  PTIVSNSRDPAVQAAILAQLNAKYGSGVLPDAPKEMSKGQGKDKDLNSKSASDLSEDLFKVHDFDVKIDLQVPSS
  ESKALAITSKAPPAKDGAPRRSLNLEDYKKRRGLI

• Structural information:
  • Protein Domains: (353..48-)
    (/note="Plus3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00693"-)
  • Interpro: IPR004343  IPR036128  
  • Prosite: PS51360
  • PDB: 2BZE 2DB9 3U1U 4L1P 4L1U
  • PDBsum: 2BZE 2DB9 3U1U 4L1P 4L1U
  • STRING: ENSP00000374280
• Other Databases: GeneCards:  RTF1  Malacards:  RTF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016593	Cdc73/Paf1 complex	IBA	cellular component
GO:1990269	RNA polymerase II C-terminal domain phosphoserine binding	IBA	molecular function
GO:0019827	stem cell population maintenance	IDA	biological process
GO:0016593	Cdc73/Paf1 complex	IDA	cellular component
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0001711	endodermal cell fate commitment	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
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:0080182	histone H3-K4 trimethylation	IEA	biological process
GO:0051571	positive regulation of histone H3-K4 methylation	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
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:0001832	blastocyst growth	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0006368	transcription elongation from RNA polymerase II promoter	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R