Aliases for FBLL1 Gene

Aliases for FBLL1 Gene

  • Fibrillarin Like 1 2 3 5
  • RRNA/TRNA 2'-O-Methyltransferase Fibrillarin-Like Protein 1 3 4
  • Protein-Glutamine Methyltransferase 3 4
  • EC 2.1.1.- 4
  • EC 2.1.1 52

External Ids for FBLL1 Gene

Previous GeneCards Identifiers for FBLL1 Gene

  • GC05P167889
  • GC05P163055
  • GC05P167956

Summaries for FBLL1 Gene

GeneCards Summary for FBLL1 Gene

FBLL1 (Fibrillarin Like 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include RNA binding and methyltransferase activity. An important paralog of this gene is FBL.

UniProtKB/Swiss-Prot Summary for FBLL1 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. Also acts as a protein methyltransferase by mediating methylation of glutamine residues (By similarity).

Additional gene information for FBLL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBLL1 Gene

Genomics for FBLL1 Gene

GeneHancer (GH) Regulatory Elements for FBLL1 Gene

Promoters and enhancers for FBLL1 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
GH05J168529 Promoter 1 Ensembl 538 +0.2 195 1.8 REST AFF1 GABPA ZBTB26 SAP30 MXI1 ZNF341 ZSCAN9 EZH2 POLR2A FBLL1 lnc-PANK3-23 PANK3 RARS1 ENSG00000254042 SLIT3 lnc-FBLL1-5 lnc-PANK3-13-001
GH05J168530 Enhancer 0.5 Ensembl 513.6 +1.6 1574 0.6 USF1 EZH2 POLR2A TOE1 SMARCA4 RNF2 USF2 FBLL1 lnc-PANK3-23 RARS1 PANK3 ENSG00000254042 SLIT3 lnc-PANK3-13-001
GH05J168577 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 30.7 +49.7 49688 4.4 ZBTB40 ZNF217 TCF12 USF1 POLR2G SP1 GTF2E2 JUND PHF8 SIX5 PANK3 HSALNG0046447 FBLL1 lnc-SLIT3-2
GH05J168590 Enhancer 1.1 Ensembl ENCODE 30.6 +62.1 62147 2.5 FOXK2 ZNF217 NCOR1 KDM6A TCF7 FOXA1 RFX1 CUX1 ZBTB25 SKI FBLL1 RARS1 PANK3 HSALNG0046447 RPL10P9
GH05J168481 Enhancer 0.9 Ensembl ENCODE 32.4 -47.7 -47660 1 MEF2C TRIM22 TCF12 CBFB ARNT MEF2B NBN BATF IRF1 POU2F2 FBLL1 RARS1 RF00017-5082 NONHSAG042173.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBLL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBLL1

Top Transcription factor binding sites by QIAGEN in the FBLL1 gene promoter:
  • ATF
  • Egr-4
  • FOXD1
  • FOXO4
  • GCNF
  • GCNF-1
  • GCNF-2
  • Ik-2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for FBLL1 Gene

Genomic Locations for FBLL1 Gene
chr5:168,529,305-168,530,634
(GRCh38/hg38)
Size:
1,330 bases
Orientation:
Plus strand
chr5:167,956,121-167,957,639
(GRCh37/hg19)
Size:
1,519 bases
Orientation:
Plus strand

Genomic View for FBLL1 Gene

Genes around FBLL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBLL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBLL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBLL1 Gene

Proteins for FBLL1 Gene

  • Protein details for FBLL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NHQ2-FBLL1_HUMAN
    Recommended name:
    rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1
    Protein Accession:
    A6NHQ2
    Secondary Accessions:
    • R4GMW7

    Protein attributes for FBLL1 Gene

    Size:
    334 amino acids
    Molecular mass:
    34803 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FBLL1 Gene

Selected DME Specific Peptides for FBLL1 Gene

A6NHQ2:
  • RIVALNA
  • ERDHAVVVGVYRP
  • RSKLAAAI
  • ISIKANCIDSTASAEAVFASEV
  • RHEGVFI
  • DVAQPDQ
  • LEPYERDH
  • KVLYLGA
  • PFRSKLA
  • WNPFRSK
  • VYAVEFS

Post-translational modifications for FBLL1 Gene

  • By homology to other fibrillarins, some or all of the N-terminal domain arginines are modified to asymmetric dimethylarginine (DMA).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBLL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for FBLL1 Gene

Gene Families for FBLL1 Gene

Protein Domains for FBLL1 Gene

Suggested Antigen Peptide Sequences for FBLL1 Gene

GenScript: Design optimal peptide antigens:
  • rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1 (FBLL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NHQ2

UniProtKB/Swiss-Prot:

FBLL1_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 FBLL1: view

Function for FBLL1 Gene

Molecular function for FBLL1 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. Also acts as a protein methyltransferase by mediating methylation of glutamine residues (By similarity).

Enzyme Numbers (IUBMB) for FBLL1 Gene

Phenotypes From GWAS Catalog for FBLL1 Gene

Gene Ontology (GO) - Molecular Function for FBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA 21873635
GO:0008168 methyltransferase activity IEA --
GO:0008649 rRNA methyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:1990259 histone-glutamine methyltransferase activity IBA 21873635
genes like me logo Genes that share ontologies with FBLL1: view

Phenotypes for FBLL1 Gene

genes like me logo Genes that share phenotypes with FBLL1: view

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FBLL1 Gene

Localization for FBLL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBLL1 Gene

Nucleus, nucleolus. Note=Fibrillar region of the nucleolus. {ECO:0000250}.

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 FBLL1 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0015030 Cajal body IBA 21873635
genes like me logo Genes that share ontologies with FBLL1: view

Pathways & Interactions for FBLL1 Gene

PathCards logo

SuperPathways for FBLL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FBLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000494 box C/D snoRNA 3'-end processing IBA 21873635
GO:0001835 blastocyst hatching IEA --
GO:0006364 rRNA processing IEA --
GO:0031167 rRNA methylation IBA 21873635
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with FBLL1: view

No data available for Pathways by source and SIGNOR curated interactions for FBLL1 Gene

Drugs & Compounds for FBLL1 Gene

(1) Additional Compounds for FBLL1 Gene - From: 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 FBLL1: view

Transcripts for FBLL1 Gene

mRNA/cDNA for FBLL1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBLL1 Gene

No ASD Table

Relevant External Links for FBLL1 Gene

GeneLoc Exon Structure for
FBLL1

Expression for FBLL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBLL1 Gene

mRNA differential expression in normal tissues according to GTEx for FBLL1 Gene

This gene is overexpressed in Brain - Hypothalamus (x5.4), Brain - Frontal Cortex (BA9) (x5.0), Brain - Cortex (x4.9), and Brain - Anterior cingulate cortex (BA24) (x4.7).

Protein differential expression in normal tissues from HIPED for FBLL1 Gene

This gene is overexpressed in CD8 Tcells (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBLL1 Gene



Protein tissue co-expression partners for FBLL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBLL1

SOURCE GeneReport for Unigene cluster for FBLL1 Gene:

Hs.166262
genes like me logo Genes that share expression patterns with FBLL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBLL1 Gene

Orthologs for FBLL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FBLL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FBLL1 31
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbll1 31
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 72 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii fbl 31
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Fib 31
  • 67 (a)
ManyToMany
CG10909 31
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea fib-1 31
  • 58 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP1 31
  • 58 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.47666 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5018 31
  • 67 (a)
OneToMany
Species where no ortholog for FBLL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FBLL1 Gene

ENSEMBL:
Gene Tree for FBLL1 (if available)
TreeFam:
Gene Tree for FBLL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBLL1: view image

Paralogs for FBLL1 Gene

Paralogs for FBLL1 Gene

(1) SIMAP similar genes for FBLL1 Gene using alignment to 2 proteins:

  • FBLL1_HUMAN
  • R4GMW7_HUMAN
genes like me logo Genes that share paralogs with FBLL1: view

Variants for FBLL1 Gene

Additional dbSNP identifiers (rs#s) for FBLL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FBLL1 Gene

Variant ID Type Subtype PubMed ID
nsv1073931 CNV deletion 25765185
nsv1119046 CNV deletion 24896259

Variation tolerance for FBLL1 Gene

Gene Damage Index Score: 10.16; 90.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBLL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBLL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBLL1 Gene

Disorders for FBLL1 Gene

Additional Disease Information for FBLL1

No disorders were found for FBLL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FBLL1 Gene

Publications for FBLL1 Gene

  1. RSPO-LGR4 functions via IQGAP1 to potentiate Wnt signaling. (PMID: 24639526) Carmon KS … Liu Q (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 54
  2. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods NT … Monteiro AN (Science signaling 2012) 3 54
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett EJ … Harper JW (Cell 2010) 3 54
  5. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 4 54

Products for FBLL1 Gene

Sources for FBLL1 Gene