FBL - fibrillarin Gene

Also Known as FIB; FLRN; Nop1; RNU3IP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2091

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

FBL Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80673	Fibrillarin Antibody (YA437)	WB, IP	Human, Mouse, Rat
HY-P80673A	Fibrillarin Antibody (YA437)(PBS only)	WB, IP	Human, Mouse, Rat
HY-P86605	Fibrillarin Antibody (YA6297)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N12677	Isocannflavin B		99.9%	Unkown
HY-RS04769	FBL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18734	Fbl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25221	Fbl Rat Pre-designed siRNA Set A	Pre-designed Set	/	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