FBL - fibrillarin Gene

Homo sapiens

Also known as FIB; FLRN; Nop1; RNU3IP1

Gene ID: 2091 | Gene type: protein coding

About FBL

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:39,834,458-39,846,379 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 194 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 114.7), bone marrow (RPKM 68.4) and 25 other tissues.

Summary

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 dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in Other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]

FBL Products(1)

mRNA	Protein	Name
NM_001436.4	NP_001427.2	rRNA 2'-O-methyltransferase fibrillarin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	17636026	GOA
enables TFIID-class transcription factor complex binding	IPI IPI: Inferred from physical interaction	17636026	GOA
enables histone H2AQ104 methyltransferase activity	IDA IDA: Inferred from direct assay	24352239	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10837141	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in rRNA methylation	IDA IDA: Inferred from direct assay	30540930	GOA
involved in ribosomal small subunit biogenesis	IDA IDA: Inferred from direct assay	34516797	GOA
involved in snoRNA localization	IMP IMP: Inferred from mutant phenotype	17636026	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Cajal body	IDA IDA: Inferred from direct assay	16687569	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	15494374	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22720776	GOA
part of small-subunit processome	IDA IDA: Inferred from direct assay	34516797	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FBL Protein Structure

Fibrillarin

0
100
200
300
321 a.a.

Protein Preferred Names

Protein Names

rRNA 2'-O-methyltransferase fibrillarin

34 kDa nucleolar scleroderma antigen

FBL Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	FBL	P22087	ZNF792	Homo sapiens	Q3KQV3	Validated Y2H	32296183
Intra	FBL	P22087	DDX5	Homo sapiens	P17844	Confocal	10837141
Intra	FBL	P22087	DDX5	Homo sapiens	P17844	Anti Bait CoIP	10837141
Intra	FBL	P22087	DDX5	Homo sapiens	P17844	Y2H	10837141
Intra	FBL	P22087	RRP1B	Homo sapiens	Q14684	BioID	29568061
Intra	FBL	P22087	NOL11	Homo sapiens	Q9H8H0	Anti Tag CoIP	33961781
Intra	FBL	P22087	NOL11	Homo sapiens	Q9H8H0	Anti Bait CoIP	22916032
Intra	FBL	P22087	TGS1	Homo sapiens	Q96RS0	Anti Tag CoIP	33961781
Intra	FBL	P22087	TGS1	Homo sapiens	Q96RS0	Anti Tag CoIP	28514442
Intra	FBL	P22087	TGS1	Homo sapiens	Q96RS0	Anti Tag CoIP	35271311
Intra	FBL	P22087	TGS1	Homo sapiens	Q96RS0	Anti Bait CoIP	21522132

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Scleroderma, Familial Progressive

Systemic Sclerosis	Systemic Scleroderma
Systemic Sclerosis, Susceptibility To	Sclerosis Systemic
Crest Syndrome	Progressive Scleroderma

Myositis

Idiopathic Inflammatory Myopathy	Idiopathic Inflammatory Myositis
Iim	Imm
Idiopathic Inflammatory Myopathies	Myopathy, Familial Idiopathic Inflammatory
Inflammatory Disorder Of Muscle	Idiopathic Inflammatory Myopathy, Familial
Inflammatory Myopathy, Idiopathic	Myopathies Idiopathic Inflammatory
Familial Idiopathic Inflammatory Myopathy

Telangiectasis

Telangiectasia

Diffuse Scleroderma

Diffuse Systemic Sclerosis	Systemic Sclerosis, Diffuse
Scleroderma, Diffuse	Systemic Scleroderma
Progressive System Sclerosis

Systemic Scleroderma

Scleroderma	Progressive Systemic Sclerosis
Systemic Sclerosis	Scleroderma, Systemic
Scleroderma Syndrome	Dermatosclerosis
Familial Progressive Scleroderma	Progressive Scleroderma
Scleroderma Disease	Scleroderma, Localized
Diffuse Scleroderma	Scleroderma, Familial Progressive

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Intestinal Disaccharidase Deficiency

Disaccharidase Deficiency

Gastrojejunal Ulcer

Acute Gastrojejunal Ulcer With Hemorrhage	Acute Gastrojejunal Ulcer With Hemorrhage And Obstruction
Acute Gastrojejunal Ulcer With Hemorrhage And Perforation	Acute Gastrojejunal Ulcer With Hemorrhage And Perforation, With Obstruction
Acute Gastrojejunal Ulcer With Hemorrhage, With Perforation And With Obstruction	Acute Gastrojejunal Ulcer With Perforation
Acute Gastrojejunal Ulcer With Perforation And Obstruction	Acute Gastrojejunal Ulcer With Perforation, With Obstruction
Acute Gastrojejunal Ulcer Without Hemorrhage And Without Perforation	Acute Gastrojejunal Ulcer Without Hemorrhage, Without Perforation And Without Obstruction
Acute Gastrojejunal Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction	Acute Gastrojejunal Ulcer, With Hemorrhage, With Obstruction
Chronic Gastrojejunal Ulcer Without Hemorrhage And Without Perforation	Chronic Gastrojejunal Ulcer Without Hemorrhage, Without Perforation And Without Obstruction
Chronic Gastrojejunal Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction	Marginal Ulcer

Crest Syndrome

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Pharyngoconjunctival Fever

Pharyngo-Conjunctival Fever	Adenoviral Pharyngoconjunctivitis
Adenovirus Infections, Human

Autoimmune Disease

Autoimmune Diseases	Autoimmune Hypersensitivity Disease
Hypersensitivity Reaction Type Ii Disease	Type Ii Hypersensitivity Reaction Disease

Limited Scleroderma

Limited Cutaneous Systemic Sclerosis	Limited Systemic Sclerosis
Systemic Sclerosis Sine Scleroderma	Crest Syndrome
Limited Cutaneous Systemic Scleroderma	Scleroderma, Limited
Systemic Sclerosis, Limited	Progressive Systemic Sclerosis Sine Scleroderma
Scleroderma, Sine	Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome
Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Mediastinal Lipomatosis

Dyskeratosis Congenita, X-Linked

DKCX	X-Linked Dyskeratosis Congenita
Zinsser-Cole-Engman Syndrome	Hoyeraal-Hreidarsson Syndrome
Dyskeratosis Congenita X-Linked	HHS
Cerebellar Hypoplasia With Pancytopenia	Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia
Dyskeratosis Congenita

Bronchiectasis 3

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans

KFSD

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Dyskinesia Of Esophagus

Esophageal Motility Disorders	Dyskinesia Of Oesophagus
Esophageal Dysmotility	Esophageal Motility Disorder
Oesophageal Dysmotility	Oesophageal Motor Disorder
Esophageal Spasm

Splenic Tuberculosis

Tuberculosis, Splenic

Alpha-2-Plasmin Inhibitor Deficiency

Plasmin Inhibitor Deficiency	Antiplasmin Deficiency
Antiplasmin Defiency	Anti-Plasmin Deficiency, Congenital
Antiplasmin Deficiency, Congenital	Congenital Alpha2-Antiplasmin Deficiency
APLID	Congenital Alpha2 Antiplasmin Deficiency

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia	Aase Syndrome
Erythrogenesis Imperfecta	Anemia, Diamond-Blackfan
Congenital Hypoplastic Anemia	Aase-Smith Ii Syndrome
Bds	Blackfan-Diamond Anemia
Congenital Prca	Congenital Hypoplastic Anemia, Blackfan-Diamond Type
Dba	Blackfan - Diamond Syndrome
Chronic Constitutional Pure Red Cell Anaemia	Anemia Diamond Blackfan Type
Anemia Congenital Erythroid Hypoplastic	Aregenerative Anemia Chronic Congenital
Blackfan Diamond Syndrome	Red Cell Aplasia, Pure Hereditary
Aase-Smith Syndrome Ii	Bda
Blackfan Diamond Anemia	Blackfan-Diamond Disease
Blackfan-Diamond Syndrome	Chronic Congenital Agenerative Anemia
Congenital Erythroid Hypoplastic Anemia	Congenital Hypoplastic Anemia Of Blackfan And Diamond
Congenital Pure Red Cell Anemia	Hypoplastic Congenital Anemia
Inherited Erythroblastopenia	Pure Hereditary Red Cell Aplasia
Anemia, Hypoplastic, Congenital	Anemia Hypoplastic Congenital
Fanconi Anemia	Constitutional Aplastic Anemia
Diamond-Blackfan Anemia 1	Aase Smith Syndrome 2
Congenital Red Cell Aplasia	Red Cell Aplasia Of Infants
Pure Red Cell Aplasia Of Infants	Congenital Red Cell Aplastic Anaemia
Congenital Pure Red Cell Anaemia	Congenital Erythroid Hypoplasia
Pearson Marrow-Pancreas Syndrome

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04769	FBL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	FBL	VGNC	VGNC:40748
Bos taurus	FBL	VGNC	VGNC:28879
Rattus norvegicus	FBL	RGD	RGD:1305542
Macaca mulatta	FBL	VGNC	VGNC:72619
Felis catus	FBL	VGNC	VGNC:62165
Mus musculus	FBL	MGD	MGI:95486
Others	FBL	NCBI

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