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Aliases for FBL Gene

Aliases for FBL Gene

  • Fibrillarin 2 3 5
  • 34 KDa Nucleolar Scleroderma Antigen 3 4
  • Histone-Glutamine Methyltransferase 3 4
  • FLRN 3 4
  • RNA, U3 Small Nucleolar Interacting Protein 1 3
  • RRNA 2-O-Methyltransferase Fibrillarin 3
  • 34-KD Nucleolar Scleroderma Antigen 3
  • EC 2.1.1.- 4
  • RNU3IP1 3
  • Nop1 3
  • FIB1 4
  • FIB 3

External Ids for FBL Gene

Previous GeneCards Identifiers for FBL Gene

  • GC19M040966
  • GC19M040716
  • GC19M045001
  • GC19M045016
  • GC19M040325
  • GC19M036772

Summaries for FBL Gene

Entrez Gene Summary for FBL Gene

  • 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]

GeneCards Summary for FBL Gene

FBL (Fibrillarin) is a Protein Coding gene. Diseases associated with FBL include Systemic Scleroderma and Myositis. Among its related pathways are Cytoskeletal Signaling and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include methyltransferase activity. An important paralog of this gene is FBLL1.

UniProtKB/Swiss-Prot for FBL Gene

  • S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA. Also acts as a protein methyltransferase by mediating methylation of Gln-105 of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239).

Gene Wiki entry for FBL Gene

Additional gene information for FBL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBL Gene

Genomics for FBL Gene

GeneHancer (GH) Regulatory Elements for FBL Gene

Promoters and enhancers for FBL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J039843 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 685.9 +0.9 872 4 HDGF ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B FBL HNRNPL SNRPA ENSG00000269843 ZNF780B AKT2 SUPT5H PSMC4 ITPKC EID2B
GH19J039847 Enhancer 0.9 ENCODE dbSUPER 650.7 -1.3 -1312 0.2 ZNF3 TFAP4 FOXA2 TEAD1 FOXA3 ZNF644 ETS1 FOXA1 PRDM2 TEAD3 FBL ERVK9-11 GC19P039887
GH19J039397 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 135.5 +439.3 439339 20 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZFP36 PAF1 HNRNPL FBL ZNF780B SUPT5H RN7SL566P ZNF780A ENSG00000269688 AKT2
GH19J039427 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 78.4 +414.3 414268 9.7 MLX ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF416 ZNF143 SP3 NFYC RPS16 HNRNPL FBL ZNF780B AKT2 PLEKHG2 RN7SL566P ENSG00000269688 SUPT5H EID2B
GH19J040713 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 67.6 -871.9 -871934 9.2 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 ITPKC NUMBL COQ8B SNRPA HNRNPUL1 ENSG00000269843 CCDC97 ZNF780B FBL AKT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBL gene promoter:
  • MyoD
  • CREB
  • deltaCREB
  • C/EBPalpha

Genomic Locations for FBL Gene

Genomic Locations for FBL Gene
chr19:39,834,453-39,846,414
(GRCh38/hg38)
Size:
11,962 bases
Orientation:
Minus strand
chr19:40,325,093-40,337,054
(GRCh37/hg19)
Size:
11,962 bases
Orientation:
Minus strand

Genomic View for FBL Gene

Genes around FBL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBL Gene

Proteins for FBL Gene

  • Protein details for FBL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22087-FBRL_HUMAN
    Recommended name:
    rRNA 2-O-methyltransferase fibrillarin
    Protein Accession:
    P22087
    Secondary Accessions:
    • B5BUE8
    • O75259
    • Q6IAT5
    • Q9UPI6

    Protein attributes for FBL Gene

    Size:
    321 amino acids
    Molecular mass:
    33784 Da
    Quaternary structure:
    • Interacts with NOLC1 (By similarity). Component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles that contain SNU13, FBL, NOP5 and NOP56, plus a guide RNA. It is associated with the U3, U8, U13, X and Y small nuclear RNAs. Component of several ribosomal and nucleolar protein complexes. Interacts with PRMT5 and UTP20. Interacts with DDX5 and C1QBP. Interacts with NOL11. Interacts with PIH1D1 (PubMed:17636026). Interacts with RRP1B (PubMed:20926688).

    Three dimensional structures from OCA and Proteopedia for FBL Gene

neXtProt entry for FBL Gene

Post-translational modifications for FBL Gene

  • Ubiquitinated. Ubiquitination leads to proteasomal degradation (PubMed:19208757). Deubiquitinated by USP36 (PubMed:19208757).
  • By homology to other fibrillarins, some or all of the N-terminal domain arginines are modified to asymmetric dimethylarginine (DMA).
  • Ubiquitination at Lys292, isoforms=285, isoforms=158, Lys143, isoforms=121, Lys109, and isoforms=102
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FBL Gene

Domains & Families for FBL Gene

Gene Families for FBL Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for FBL Gene

Suggested Antigen Peptide Sequences for FBL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22087

UniProtKB/Swiss-Prot:

FBRL_HUMAN :
  • Belongs to the methyltransferase superfamily. Fibrillarin family.
Family:
  • Belongs to the methyltransferase superfamily. Fibrillarin family.
genes like me logo Genes that share domains with FBL: view

Function for FBL Gene

Molecular function for FBL Gene

UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA. Also acts as a protein methyltransferase by mediating methylation of Gln-105 of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239).
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-glutamine-[histone] = S-adenosyl-L-homocysteine + N(5)-methyl-L-glutamine-[histone].

Enzyme Numbers (IUBMB) for FBL Gene

Phenotypes From GWAS Catalog for FBL Gene

Gene Ontology (GO) - Molecular Function for FBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001094 TFIID-class transcription factor binding IPI 17636026
GO:0003723 RNA binding IEA,IBA --
GO:0005515 protein binding IPI 8670859
GO:0008168 methyltransferase activity IEA --
GO:0008649 rRNA methyltransferase activity IBA --
genes like me logo Genes that share ontologies with FBL: view
genes like me logo Genes that share phenotypes with FBL: view

miRNA for FBL Gene

Clone Products

  • Addgene plasmids for FBL

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBL Gene

Localization for FBL Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBL Gene

Nucleus, nucleolus. Note=Fibrillar region of the nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBL gene
Compartment Confidence
extracellular 5
nucleus 5
mitochondrion 2
cytosol 2
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0001651 dense fibrillar component IEA --
GO:0001652 granular component IEA --
GO:0005634 nucleus IDA 22720776
GO:0005654 nucleoplasm TAS,IEA --
genes like me logo Genes that share ontologies with FBL: view

Pathways & Interactions for FBL Gene

genes like me logo Genes that share pathways with FBL: view

Gene Ontology (GO) - Biological Process for FBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000494 box C/D snoRNA 3-end processing IBA --
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006364 rRNA processing IEA,TAS --
GO:0008033 tRNA processing IEA --
GO:0016074 snoRNA metabolic process IEA --
genes like me logo Genes that share ontologies with FBL: view

No data available for SIGNOR curated interactions for FBL Gene

Drugs & Compounds for FBL Gene

(4) Drugs for FBL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for FBL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with FBL: view

Transcripts for FBL Gene

mRNA/cDNA for FBL Gene

Unigene Clusters for FBL Gene

Fibrillarin:
Representative Sequences:

Clone Products

  • Addgene plasmids for FBL

Alternative Splicing Database (ASD) splice patterns (SP) for FBL Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b
SP1: -
SP2: - - - - - -
SP3: - - - - -
SP4: - - -
SP5: -
SP6: - - -
SP7: -
SP8: - - - -
SP9: - - - -
SP10: -
SP11:
SP12: - - -

Relevant External Links for FBL Gene

GeneLoc Exon Structure for
FBL
ECgene alternative splicing isoforms for
FBL

Expression for FBL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBL Gene

Protein differential expression in normal tissues from HIPED for FBL Gene

This gene is overexpressed in Tlymphocyte (12.6), Peripheral blood mononuclear cells (9.0), and Fetal testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBL Gene



Protein tissue co-expression partners for FBL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FBL Gene:

FBL

SOURCE GeneReport for Unigene cluster for FBL Gene:

Hs.299002

Evidence on tissue expression from TISSUES for FBL Gene

  • Liver(4.8)
  • Pancreas(4.7)
  • Nervous system(4)
  • Lung(3.7)
  • Skin(3.6)
  • Blood(3.3)
  • Eye(3.3)
  • Intestine(2.9)
  • Heart(2.8)
  • Muscle(2.8)
  • Spleen(2.8)
  • Kidney(2.6)
genes like me logo Genes that share expression patterns with FBL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBL Gene

Orthologs for FBL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FBL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBL 34 33
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBL 34 33
  • 92.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBL 34 33
  • 92.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbl 33
  • 90.46 (n)
mouse
(Mus musculus)
Mammalia Fbl 16 34 33
  • 90.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 82 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fbl 33
  • 76.99 (n)
MGC76139 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398434 33
zebrafish
(Danio rerio)
Actinopterygii fbl 34 33
  • 73.75 (n)
OneToMany
wufb37g12 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8635 33
fruit fly
(Drosophila melanogaster)
Insecta Fib 34 33
  • 73.53 (n)
ManyToMany
CG10909 34 35
  • 31 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011244 33
  • 71.83 (n)
worm
(Caenorhabditis elegans)
Secernentea fib-1 34 35 33
  • 70.92 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER214C 33
  • 68.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP1 36 34 33
  • 65.38 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04389g 33
  • 63.81 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FIB1 33
  • 68.46 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10016 33
rice
(Oryza sativa)
Liliopsida Os02g0821800 33
  • 67.93 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.7320 33
corn
(Zea mays)
Liliopsida Zm.4797 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5018 34
  • 76 (a)
OneToMany
Cin.12364 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03702 33
  • 67.78 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fib1 33
  • 65.09 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12364 33
Species where no ortholog for FBL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FBL Gene

ENSEMBL:
Gene Tree for FBL (if available)
TreeFam:
Gene Tree for FBL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBL: view image

Paralogs for FBL Gene

Paralogs for FBL Gene

(1) SIMAP similar genes for FBL Gene using alignment to 10 proteins:

  • FBRL_HUMAN
  • M0QXC9_HUMAN
  • M0QXL5_HUMAN
  • M0R0P1_HUMAN
  • M0R1H0_HUMAN
  • M0R299_HUMAN
  • M0R2B0_HUMAN
  • M0R2Q4_HUMAN
  • M0R2U2_HUMAN
  • Q96BS4_HUMAN

Pseudogenes.org Pseudogenes for FBL Gene

genes like me logo Genes that share paralogs with FBL: view

Variants for FBL Gene

Sequence variations from dbSNP and Humsavar for FBL Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000489231 -- 39,841,354(-) C/T intron_variant
rs1000504195 -- 39,840,093(-) G/A/T intron_variant
rs1000861057 -- 39,836,354(-) C/G intron_variant
rs1001032503 -- 39,842,555(-) T/G intron_variant
rs1001128074 -- 39,836,068(-) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FBL Gene

Variant ID Type Subtype PubMed ID
esv2758760 CNV gain 17122850
nsv9725 CNV gain+loss 18304495

Variation tolerance for FBL Gene

Residual Variation Intolerance Score: 19.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBL Gene

Disorders for FBL Gene

MalaCards: The human disease database

(3) MalaCards diseases for FBL Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
systemic scleroderma
  • scleroderma, familial progressive
myositis
  • myopathy, familial idiopathic inflammatory; iim
corneal dystrophy, lisch epithelial
  • lecd
- elite association - COSMIC cancer census association via MalaCards
Search FBL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FBL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FBL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBL Gene

Publications for FBL Gene

  1. cDNA cloning and sequencing of human fibrillarin, a conserved nucleolar protein recognized by autoimmune antisera. (PMID: 1846968) Aris JP … Blobel G (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4 22 58
  2. Evolutionary conservation of the human nucleolar protein fibrillarin and its functional expression in yeast. (PMID: 2026646) Jansen RP … Tollervey D (The Journal of cell biology 1991) 2 3 4 22 58
  3. Nucleolar structure and function are regulated by the deubiquitylating enzyme USP36. (PMID: 19208757) Endo A … Komada M (Journal of cell science 2009) 3 4 22 58
  4. Human fibrillarin forms a sub-complex with splicing factor 2-associated p32, protein arginine methyltransferases, and tubulins alpha 3 and beta 1 that is independent of its association with preribosomal ribonucleoprotein complexes. (PMID: 14583623) Yanagida M … Takahashi N (The Journal of biological chemistry 2004) 3 4 22 58
  5. An intact Box C sequence in the U3 snRNA is required for binding of fibrillarin, the protein common to the major family of nucleolar snRNPs. (PMID: 1714385) Baserga SJ … Steitz JA (The EMBO journal 1991) 3 4 22 58

Products for FBL Gene

  • Addgene plasmids for FBL