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FLASH GENE

Symbol

FBL

contributors: mct - updated : 27-08-2014

HGNC name	fibrillarin
HGNC id	3599

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001436 9 - 1171 NP_001427 33 321 - Amin (2007)

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas       highly Reproductive female system ovary     highly   female system uterus cervix   highly Visual eye

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two cysteine residues (Cys99 and Cys268) whose sulfhydryl groups are able to establish intramolecular -S-S- bridges

HOMOLOGY

interspecies	homolog to yeast S.cerevisiae NOP1
	ortholog to yeast S.cerevisiae
	ortholog to xenopus nop1

Homologene

FAMILY

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,nucleus,chromatin/chromosome
	intracellular,nucleus,nucleolus
text	fibrillar region of the nucleolus but also Cajal bodies
	pre-rRNA processing factors such as DKC1, NOLC1 and fibrillarin (FBL) associate with r-chromatin during interphase but were released from r-chromatin in mitosis

basic FUNCTION	evolutionarily-conserved and obligatory protein component of eukaryotic cell nucleoli involved in pre-rRNA processing and methylation
	its form without disulfide bridges is included into the mobile protein fraction and is consistent with its functionally active state
	FBL and RRP1 are associated with pre-ribosome particles distinctly different from each other
	its overexpression contributes to tumorigenesis and is associated with poor survival in patients with breast cancer

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	by deubiquitylating various nucleolar substrate proteins including NPM1 and FBL, USP36 plays a crucial role in regulating the structure and function of nucleoli
	FBL and NOP56 interact before being co-assembled in box C/D snoRNPs
	is a USP36 substrate protein in nucleoli (pMID: 19679658)
	the presence of CBX1 in nucleoli is likely connected with transcription of ribosomal genes and with the role of fibrillarin in nucleolar processes
	FBL and and NOP56 directly interact (interaction, indispensable for the association of both proteins with the box C/D snoRNPs)
	C1QBP is a new rRNA maturation factor involved in the remodeling from pre-90S particles to pre-40S and pre-60S particles that requires the exchange of FBL for RRP1
	TP53 represses expression of the rRNA methyl-transferase fibrillarin (FBL) by binding directly to FBL
	rRNA gene chromatin (r-chromatin) association of NOLC1, DKC1, and FBL was dependent on the transcription factor upstream binding factor (UBF)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to systemic sclerosis

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS