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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
  • 34-KD Nucleolar Scleroderma Antigen 3
  • EC 2.1.1.37 63
  • EC 2.1.1.- 4
  • EC 2.1.1 63
  • RNU3IP1 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 van maldergem syndrome 1 and systemic scleroderma. Among its related pathways are Gene Expression and TNF-alpha/NF-kB Signaling Pathway. 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

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

Genomics for FBL Gene

Regulatory Elements for FBL Gene

Promoters for FBL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FBL on UCSC Golden Path with GeneCards custom track

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

Proteomics data for FBL Gene at MOPED

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 Lys 102, Lys 109, Lys 121, Lys 143, Lys 158, Lys 285, and Lys 292
  • Modification sites at PhosphoSitePlus

Domains & Families for FBL Gene

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

No data available for Gene Families for FBL Gene

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

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:0008168 methyltransferase activity IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
GO:1990259 histone-glutamine methyltransferase activity IDA 24352239
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

miRNA for FBL Gene

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
Jensen Localization Image for FBL Gene COMPARTMENTS Subcellular localization image for FBL gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 1
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22720776
GO:0031428 box C/D snoRNP complex NAS 17636026
GO:0070062 extracellular exosome IDA 19056867
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

Pathways by source for FBL Gene

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:0006364 rRNA processing IEA,TAS --
GO:0031167 rRNA methylation IBA --
GO:0032259 methylation 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

(3) Drugs for FBL Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0

(7) Additional Compounds for FBL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBL: view

Transcripts for FBL Gene

Unigene Clusters for FBL Gene

Fibrillarin:
Representative Sequences:

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 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, MOPED, and MaxQB for FBL Gene



SOURCE GeneReport for Unigene cluster for FBL Gene Hs.299002

genes like me logo Genes that share expression patterns with FBL: view

Protein tissue co-expression partners for FBL Gene

- Elite partner

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia FBL 35
  • 92.22 (n)
  • 100 (a)
FBL 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBL 35
  • 92.25 (n)
  • 100 (a)
FBL 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbl 35
  • 90.04 (n)
  • 100 (a)
Fbl 16
Fbl 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FBL 35
  • 99.79 (n)
  • 100 (a)
FBL 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbl 35
  • 90.46 (n)
  • 99.59 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fbl 35
  • 76.99 (n)
  • 88.7 (a)
MGC76139 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398434 35
zebrafish
(Danio rerio)
Actinopterygii fbl 35
  • 73.75 (n)
  • 87.5 (a)
wufb37g12 35
fbl 36
  • 79 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8635 35
fruit fly
(Drosophila melanogaster)
Insecta CG10909 37
  • 44 (a)
Fib 35
  • 73.53 (n)
  • 82.35 (a)
CG10909 36
  • 31 (a)
ManyToMany
Fib 36
  • 72 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011244 35
  • 71.83 (n)
  • 81.59 (a)
worm
(Caenorhabditis elegans)
Secernentea fib-1 37
  • 76 (a)
fib-1 35
  • 70.92 (n)
  • 75.74 (a)
fib-1 36
  • 62 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER214C 35
  • 68.81 (n)
  • 71.24 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04389g 35
  • 63.81 (n)
  • 72.1 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP1 35
  • 65.38 (n)
  • 72.1 (a)
NOP1 36
  • 63 (a)
OneToMany
NOP1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons FIB1 35
  • 68.46 (n)
  • 78.42 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10016 35
barley
(Hordeum vulgare)
Liliopsida Hv.7320 35
rice
(Oryza sativa)
Liliopsida Os02g0821800 35
  • 67.93 (n)
  • 72.15 (a)
corn
(Zea mays)
Liliopsida Zm.4797 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12364 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03702 35
  • 67.78 (n)
  • 70.83 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fib1 35
  • 65.09 (n)
  • 74.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5018 36
  • 76 (a)
OneToMany
Species with no ortholog for FBL:
  • 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
rs616650 -- 39,837,975(+) tattg(C/T)tatca intron-variant
rs619350 -- 39,838,520(+) cctcc(C/G)aaagt intron-variant
rs649908 -- 39,837,687(+) CCCAC(A/C)GGGGC intron-variant
rs1541534 -- 39,848,020(+) AGCCC(A/G)GTAGG upstream-variant-2KB
rs1541535 -- 39,848,030(+) GTCTA(C/G)GCTGA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1082e1 CNV Complex 17122850
nsv911696 CNV Loss 21882294
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

HapMap Linkage Disequilibrium report
FBL

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

Disorders for FBL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
van maldergem syndrome 1
  • cerebro-facio-articular syndrome
systemic scleroderma
  • diffuse scleroderma
myositis
  • inflammatory disorder of muscle
connective tissue disease
  • connective tissue disorder
dyskeratosis congenita
  • revesz 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. cDNA cloning and sequencing of human fibrillarin, a conserved nucleolar protein recognized by autoimmune antisera. (PMID: 1846968) Aris J.P. … Blobel G. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 23 67
  2. Evolutionary conservation of the human nucleolar protein fibrillarin and its functional expression in yeast. (PMID: 2026646) Jansen R.P. … Tollervey D. (J. Cell Biol. 1991) 2 3 23
  3. Fibrillarin and Nop56 interact before being co-assembled in box C/D snoRNPs. (PMID: 19331828) Lechertier T. … Roussel P. (Exp. Cell Res. 2009) 3 23
  4. Association of guanine nucleotide-exchange protein BIG1 in HepG2 cell nuclei with nucleolin, U3 snoRNA, and fibrillarin. (PMID: 18292223) Padilla P.I. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 23
  5. Nuclear functions of the Arf guanine nucleotide exchange factor BRAG2. (PMID: 17461797) Dunphy J.L. … Casanova J.E. (Traffic 2007) 3 23

Products for FBL Gene

Sources for FBL Gene

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