• Gene id: 2091

Gene Summary

• Gene Symbol: FBL   Gene   UCSC   Ensembl
• Aliases: FIB, FLRN, Nop1, RNU3IP1
• Gene name: fibrillarin
• Alternate names: rRNA 2'-O-methyltransferase fibrillarin, 34 kDa nucleolar scleroderma antigen, 34-kD nucleolar scleroderma antigen, RNA, U3 small nucleolar interacting protein 1, histone-glutamine methyltransferase,
• Gene location: 19q13.2 (39846394: 39834457)     Exons: 9     NC_000019.10
• Gene summary(Entrez): This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the de
• OMIM: 134795

Protein Summary

• Protein general information: P22087  
  • Name: rRNA 2' O methyltransferase fibrillarin (EC 2.1.1. ) (34 kDa nucleolar scleroderma antigen) (Histone glutamine methyltransferase)
  • Length: 321  
  • Mass: 33784
• Sequence:

  MKPGFSPRGGGFGGRGGFGDRGGRGGRGGFGGGRGRGGGFRGRGRGGGGGGGGGGGGGRGGGGFHSGGNRGRGRG
  GKRGNQSGKNVMVEPHRHEGVFICRGKEDALVTKNLVPGESVYGEKRVSISEGDDKIEYRAWNPFRSKLAAAILG
  GVDQIHIKPGAKVLYLGAASGTTVSHVSDIVGPDGLVYAVEFSHRSGRDLINLAKKRTNIIPVIEDARHPHKYRM
  LIAMVDVIFADVAQPDQTRIVALNAHTFLRNGGHFVISIKANCIDSTASAEAVFASEVKKMQQENMKPQEQLTLE
  PYERDHAVVVGVYRPPPKVKN

• Structural information:
  • Interpro: IPR000692  IPR020813  IPR029063  
  • Prosite: PS00566
  • PDB: 2IPX
  • PDBsum: 2IPX
  • DIP: 27569
  • STRING: ENSP00000221801
• Other Databases: GeneCards:  FBL  Malacards:  FBL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990259	histone-glutamine methyltransferase activity	IBA	molecular function
GO:1990258	histone glutamine methylation	IBA	biological process
GO:0000494	box C/D snoRNA 3'-end processing	IBA	biological process
GO:0032040	small-subunit processome	IBA	cellular component
GO:0031428	box C/D snoRNP complex	IBA	cellular component
GO:0031167	rRNA methylation	IBA	biological process
GO:0015030	Cajal body	IBA	cellular component
GO:0008649	rRNA methyltransferase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:1990259	histone-glutamine methyltransferase activity	IDA	molecular function
GO:1990258	histone glutamine methylation	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:1990259	histone-glutamine methyltransferase activity	IDA	molecular function
GO:1990258	histone glutamine methylation	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0031167	rRNA methylation	IDA	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:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	TAS	molecular function
GO:0006364	rRNA processing	TAS	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006364	rRNA processing	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: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:0001652	granular component	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0016074	snoRNA metabolic process	IEA	biological process
GO:0001651	dense fibrillar component	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0031428	box C/D snoRNP complex	NAS	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0048254	snoRNA localization	IMP	biological process
GO:0051117	ATPase binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0001649	osteoblast differentiation	HDA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0001094	TFIID-class transcription factor complex binding	IPI	molecular function
GO:0003723	RNA binding	HDA	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

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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