• Gene id: 284119

Gene Summary

• Gene Symbol: CAVIN1   Gene   UCSC   Ensembl
• Aliases: CAVIN, CGL4, FKSG13, PTRF, cavin-1
• Gene name: caveolae associated protein 1
• Alternate names: caveolae-associated protein 1, RNA polymerase I and transcript release factor, TTF-I interacting peptide 12, congenital generalized lipodystrophy 4, polymerase I and transcript release factor,
• Gene location: 17q21.2 (42423268: 42402448)     Exons: 3     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes an

Protein Summary

• Protein general information: Q6NZI2  
  • Name: Caveolae associated protein 1 (Cavin 1) (Polymerase I and transcript release factor)
  • Length: 390  
  • Mass: 43476
• Sequence:

  MEDPTLYIVERPLPGYPDAEAPEPSSAGAQAAEEPSGAGSEELIKSDQVNGVLVLSLLDKIIGAVDQIQLTQAQL
  EERQAEMEGAVQSIQGELSKLGKAHATTSNTVSKLLEKVRKVSVNVKTVRGSLERQAGQIKKLEVNEAELLRRRN
  FKVMIYQDEVKLPAKLSISKSLKESEALPEKEGEELGEGERPEEDAAALELSSDEAVEVEEVIEESRAERIKRSG
  LRRVDDFKKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNKLGTRLVPAERREKLKTSRDKLRKS
  FTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVEVLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEI
  TEESDAVLVDKSDSD

• Structural information:
  • Interpro: IPR033297  IPR026752  
  • DIP: 48550
  • STRING: ENSP00000349541
• Other Databases: GeneCards:  CAVIN1  Malacards:  CAVIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006363	termination of RNA polymerase I transcription	IBA	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	IBA	biological process
GO:0005901	caveola	IBA	cellular component
GO:0042134	rRNA primary transcript binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:2000147	positive regulation of cell motility	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009303	rRNA transcription	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005901	caveola	IEA	cellular component
GO:0006363	termination of RNA polymerase I transcription	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0006353	DNA-templated transcription, termination	IEA	biological process
GO:0019843	rRNA binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006363	termination of RNA polymerase I transcription	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0006361	transcription initiation from RNA polymerase I promoter	IEA	biological process
GO:0006363	termination of RNA polymerase I transcription	IEA	biological process
GO:2000147	positive regulation of cell motility	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0009303	rRNA transcription	IEA	biological process
GO:0009306	protein secretion	IEA	biological process
GO:0042134	rRNA primary transcript binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0042134	rRNA primary transcript binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006363	termination of RNA polymerase I transcription	IDA	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	IDA	biological process
GO:0005901	caveola	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Congenital generalized lipodystrophy	KEGG:H00419
Congenital generalized lipodystrophy	KEGG:H00419
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray