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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 2.1.1.37 58
  • EC 2.1.1.- 4
  • EC 2.1.1 58
  • RNU3IP1 3
  • FIB1 4
  • Nop1 3
  • 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 Ribosome biogenesis in eukaryotes and rRNA processing in the nucleus and cytosol. GO annotations related to this gene include poly(A) RNA binding and 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

Regulatory Elements for FBL Gene

Enhancers for FBL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H039397 2 FANTOM5 ENCODE dbSUPER 88.3 +439.3 439340 20 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 HNRNPL ZNF780B FBL SUPT5H AKT2 RN7SL566P ZNF780A EID2B PLEKHG2 ZFP36
GH19H040713 2.1 FANTOM5 Ensembl ENCODE dbSUPER 59 -871.9 -871934 9 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 ZC3H11A NFYC ZNF610 SNRPA HNRNPUL1 ENSG00000269843 CCDC97 ITPKC FBL ZNF780B AKT2 PSMC4 COQ8B
GH19H039340 1.4 ENCODE dbSUPER 75.4 +504.2 504179 3 DMAP1 YY1 ZNF143 SP3 ZC3H11A NFYC SSRP1 ZNF610 GLIS1 NBN HNRNPL FBL PSMC4 RN7SL566P ENSG00000269688 AKT2 EID2B SUPT5H PAF1 ZNF780A
GH19H039427 2.1 FANTOM5 Ensembl ENCODE dbSUPER 45.1 +414.3 414268 9 MLX ZFP64 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC ZFP41 SSRP1 HNRNPL RPS16 ZNF780B FBL SUPT5H AKT2 EID2B RN7SL566P PLEKHG2 SAMD4B
GH19H039125 1.7 Ensembl ENCODE dbSUPER 55.1 +719.1 719061 4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B HNRNPL FBL ENSG00000269172 ZNF780B ZNF780A ENSG00000269688 PAK4 EID2B RN7SL566P ENSG00000266963
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBL on UCSC Golden Path with GeneCards custom track

Promoters for FBL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109452 314 1401 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF416 ZNF143

Genomic Location for FBL Gene

Chromosome:
19
Start:
39,834,453 bp from pter
End:
39,846,414 bp from pter
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).

    Three dimensional structures from OCA and Proteopedia for FBL Gene

neXtProt entry for FBL Gene

Selected DME Specific Peptides for FBL Gene

P22087:
  • ERDHAVVVGVYRP
  • RSKLAAAI
  • RHEGVFI
  • KVLYLGA
  • VISIKANCIDST
  • WNPFRSK
  • TKNLVPG
  • PGFSPRGG
  • RIVALNA
  • ISIKANCIDSTASAEAVFASEV
  • DVAQPDQ
  • GESVYGEKR
  • LEPYERDH
  • SHVSDIV
  • ISEGDDK
  • PFRSKLA
  • VYAVEFS

Post-translational modifications for FBL Gene

  • By homology to other fibrillarins, some or all of the N-terminal domain arginines are modified to asymmetric dimethylarginine (DMA).
  • Ubiquitination at isoforms=102, isoforms=109, isoforms=121, posLast=143143, posLast=158158, posLast=285285, and posLast=292292
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FBL (FBL)

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 CatalyticActivity:
S-adenosyl-L-methionine + L-glutamine-[histone] = S-adenosyl-L-homocysteine + N(5)-methyl-L-glutamine-[histone].
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).

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,IDA 22658674
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

Animal Model Products

CRISPR Products

miRNA for FBL Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FBL
  • Applied Biological Materials Clones for FBL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 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 IEA,TAS --
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 IDA 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
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
genes like me logo Genes that share compounds with FBL: view

Transcripts for FBL Gene

Unigene Clusters for FBL Gene

Fibrillarin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FBL
  • Applied Biological Materials Clones for FBL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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(4.7)
  • 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 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia FBL 33 34
  • 92.25 (n)
cow
(Bos Taurus)
Mammalia FBL 33 34
  • 92.22 (n)
rat
(Rattus norvegicus)
Mammalia Fbl 33
  • 90.46 (n)
mouse
(Mus musculus)
Mammalia Fbl 33 16 34
  • 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 33 34
  • 73.53 (n)
CG10909 35 34
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011244 33
  • 71.83 (n)
worm
(Caenorhabditis elegans)
Secernentea fib-1 33 34 35
  • 70.92 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER214C 33
  • 68.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP1 33 34 36
  • 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
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)

Paralogs for FBL Gene

Paralogs for FBL Gene

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 Sequence Context AA Info Type
rs1000489231 -- 39,841,354(+) CCCAG(C/T)CACAA intron-variant
rs1000504195 -- 39,840,093(+) CGGAT(A/G/T)AGGGA intron-variant
rs1000861057 -- 39,836,354(+) TCAGT(C/G)ACACA intron-variant
rs1001032503 -- 39,842,555(+) TTTAC(G/T)TTTAA intron-variant
rs1001128074 -- 39,836,068(+) AATAA(A/T)AGTAA intron-variant, upstream-variant-2KB

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)

Relevant External Links for FBL Gene

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

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

Disorders for FBL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
systemic scleroderma
  • progressive systemic sclerosis
myositis
  • inflammatory disorder of muscle
esophageal varix
  • bleeding esophageal varices
dyskeratosis congenita
  • zinsser-cole-engman syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FBL in MalaCards View complete list of genes associated with diseases

Relevant External Links for FBL

Genetic Association Database (GAD)
FBL
Human Genome Epidemiology (HuGE) Navigator
FBL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBL
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. 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 60
  2. 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 60
  3. 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 60
  4. 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 60
  5. Glutamine methylation in histone H2A is an RNA-polymerase-I-dedicated modification. (PMID: 24352239) Tessarz P … Kouzarides T (Nature 2014) 3 4 60

Products for FBL Gene

  • Addgene plasmids for FBL

Sources for FBL Gene

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