• Gene id: 9208

Gene Summary

• Gene Symbol: LRRFIP1   Gene   UCSC   Ensembl
• Aliases: FLAP-1, FLAP1, FLIIAP1, GCF-2, GCF2, HUFI-1, TRIP
• Gene name: LRR binding FLII interacting protein 1
• Alternate names: leucine-rich repeat flightless-interacting protein 1, GC-binding factor 2, LRR FLII-interacting protein 1, NEDD8-conjugating enzyme, TAR RNA-interacting protein, leucine rich repeat (in FLII) interacting protein 1,
• Gene location: 2q37.3 (237627575: 237781646)     Exons: 29     NC_000002.12
• OMIM: 603256

Protein Summary

• Protein general information: Q32MZ4  
  • Name: Leucine rich repeat flightless interacting protein 1 (LRR FLII interacting protein 1) (GC binding factor 2) (TAR RNA interacting protein)
  • Length: 808  
  • Mass: 89253
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MTSPAAAQSREIDCLSPEAQKLAEARLAAKRAARAEAREIRMKELERQQKEEDSERYSRRSRRNTSASDEDERMS
  VGSRGSLRVEERPEKDFTEKGSRNMPGLSAATLASLGGTSSRRGSGDTSISIDTEASIREIKELNELKDQIQDVE
  GKYMQGLKEMKDSLAEVEEKYKKAMVSNAQLDNEKTNFMYQVDTLKDMLLELEEQLAESRRQYEEKNKEFEREKH
  AHSILQFQFAEVKEALKQREEMLEKHGIILNSEIATNGETSDTLNNVGYQGPTKMTKEELNALKSTGDGTLGRAS
  EVEVKNEIVANVGKREILHNTEKEQHTEDTVKDCVDIEVFPAGENTEDQKSSEDTAPFLGTLAGATYEEQVQSQI
  LESSSLPENTVQVESNEVMGAPDDRTRTPLEPSNCWSDLDGGNHTENVGEAAVTQVEEQAGTVASCPLGHSDDTV
  YHDDKCMVEVPQELETSTGHSLEKEFTNQEAAEPKEVPAHSTEVGRDHNEEEGEETGLRDEKPIKTEVPGSPAGT
  EGNCQEATGPSTVDTQNEPLDMKEPDEEKSDQQGEALDSSQKKTKNKKKKNKKKKSPVPVETLKDVKKELTYQNT
  DLSEIKEEEQVKSTDRKSAVEAQNEVTENPKQKIAAESSENVDCPENPKIKLDGKLDQEGDDVQTAAEEVLADGD
  TLDFEDDTVQSSGPRAGGEELDEGVAKDNAKIDGATQSSPAEPKSEDADRCTLPEHESPSQDISDACEAESTERC
  EMSEHPSQTVRKALDSNSLENDDLSAPGREPGHFNPESREDTRGGNEKGKSKEDCTMS

• Structural information:
  • Interpro: IPR019139  
  • PDB: 4H22
  • PDBsum: 4H22
  • STRING: ENSP00000375857
• Other Databases: GeneCards:  LRRFIP1  Malacards:  LRRFIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003725	double-stranded RNA binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	NAS	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