Aliases for FBLL1 Gene
Aliases for FBLL1 Gene
External Ids for FBLL1 Gene
- HGNC: 35458
- Entrez Gene: 345630
- Ensembl: ENSG00000188573
- UniProtKB: A6NHQ2
Previous GeneCards Identifiers for FBLL1 Gene
- GC05P167889
- GC05P163055
- GC05P167956
Summaries for FBLL1 Gene
GeneCards Summary for FBLL1 Gene
FBLL1 (Fibrillarin-Like 1) is a Pseudogene. GO annotations related to this gene include RNA binding and methyltransferase activity. An important paralog of this gene is FBL.
UniProtKB/Swiss-Prot 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).
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBLL1 Gene
Genomics for FBLL1 Gene
Regulatory Elements for FBLL1 Gene
Enhancers for FBLL1 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 |
|---|---|---|---|---|---|---|---|---|
| GH05G168577 | 1.1 | ENCODE | 30.6 | +50.1 | 50057 | 4.0 | HDGF PKNOX1 FOXA2 MLX CREB3L1 ARID4B SIN3A ZNF2 ZBTB7B YY1 | FBLL1 RARS ENSG00000254192 PANK3 GC05M168564 |
| GH05G168590 | 1 | ENCODE | 30.6 | +62.7 | 62732 | 1.7 | PKNOX1 FOXA2 MLX ARID4B SIN3A ZNF48 YY1 SLC30A9 FOS SP5 | FBLL1 RARS PANK3 RPL10P9 |
| GH05G168481 | 0.8 | ENCODE | 32.4 | -47.5 | -47471 | 1.0 | SOX13 PKNOX1 MXI1 ARID3A RELB IKZF2 MTA2 CBFB HLF NR2F1 | FBLL1 RARS LOC105377711 |
| GH05G168612 | 0.6 | ENCODE | 30.2 | +84.0 | 84029 | 1.1 | MAX RAD21 FOXA1 YY1 JUND POLR2A ATF3 GLIS1 HNF4A | FBLL1 RPL10P9 PANK3 |
| GH05G168551 | 0.5 | ENCODE | 29.8 | +23.1 | 23138 | 1.2 | POLR2A ZNF366 EP300 | FBLL1 PANK3 RARS ENSG00000254192 SLC2A3P1 GC05M168548 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBLL1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FBLL1 gene promoter:
Regulatory Element Products
Genomic Location for FBLL1 Gene
- Chromosome:
- 5
- Start:
- 168,529,116 bp from pter
- End:
- 168,530,634 bp from pter
- 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:
-
- 5q34 by Ensembl
- 5q34 by Entrez Gene
- 5q34 by HGNC
FBLL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- R4GMW7
Protein attributes for FBLL1 Gene
- Size:
- 334 amino acids
- Molecular mass:
- 34803 Da
- Quaternary structure:
- No Data Available
Protein Expression 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:
Antibody Products
-
Abcam antibodies for FBLL1
- Invitrogen Antibodies for FBLL1
- antibodies-online Antibodies for FBLL1: See all 9
- Search GeneTex for Antibodies for FBLL1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FBLL1
- Origene Custom Protein Services for FBLL1
- Search GeneTex for Proteins for FBLL1
Assay Products
Domains & Families for FBLL1 Gene
Gene Families for FBLL1 Gene
Protein Domains for FBLL1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBLL1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
A6NHQ2UniProtKB/Swiss-Prot:
FBLL1_HUMAN :- Belongs to the methyltransferase superfamily. Fibrillarin family.
- Family:
-
- Belongs to the methyltransferase superfamily. Fibrillarin family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IBA | -- |
| GO:0008168 | methyltransferase activity | IEA | -- |
| GO:0008649 | rRNA methyltransferase activity | IBA | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:1990259 | histone-glutamine methyltransferase activity | IBA | -- |
Phenotypes for FBLL1 Gene
- GenomeRNAi human phenotypes for FBLL1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Search ViGene Biosciences for FBLL1
CRISPR Products
- Browse CRISPR knockouts for FBLL1
miRNA Products
- Search ViGene Biosciences for FBLL1
Inhibitory RNA Products
- Search ViGene Biosciences for FBLL1
Cell Line Products
- Search ViGene Biosciences for FBLL1
Flow Cytometry 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}.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IEA,IDA | -- |
| GO:0005730 | nucleolus | IEA | -- |
| GO:0015030 | Cajal body | IBA | -- |
| GO:0030529 | intracellular ribonucleoprotein complex | IEA | -- |
No data available for Subcellular locations from COMPARTMENTS for FBLL1 Gene
Pathways & Interactions for FBLL1 Gene
No Data Available
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000494 | box C/D snoRNA 3-end processing | IBA | -- |
| GO:0006364 | rRNA processing | IEA | -- |
| GO:0008033 | tRNA processing | IEA | -- |
| GO:0031167 | rRNA methylation | IBA | -- |
| GO:0032259 | methylation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for FBLL1 Gene
Drugs & Compounds for FBLL1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| S-Adenosylmethionine | Approved | Nutra | 0 |
Transcripts for FBLL1 Gene
mRNA/cDNA for FBLL1 Gene
- (1) Additional mRNA sequences :
- (7) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
- Browse CRISPR knockouts for FBLL1
miRNA Products
- Search ViGene Biosciences for FBLL1
Inhibitory RNA Products
- Search ViGene Biosciences for FBLL1
Flow Cytometry Products
Expression 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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FBLL1 Gene:
FBLL1SOURCE GeneReport for Unigene cluster for FBLL1 Gene:
Hs.166262Primer Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | FBLL1 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fbll1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | fbl 35 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | Fib 35 |
|
ManyToMany | |
| CG10909 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | fib-1 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NOP1 35 |
|
OneToMany | |
| rice (Oryza sativa) |
Liliopsida | Os.47666 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5018 35 |
|
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)
Paralogs for FBLL1 Gene
(1) SIMAP similar genes for FBLL1 Gene using alignment to 2 proteins:
Variants for FBLL1 Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1001354637 | -- | 168,531,050(+) | GCCCT(G/T)TTGCA | downstream-variant-500B | |
| rs1002062116 | -- | 168,531,047(+) | TAAGC(C/T)CTTTT | downstream-variant-500B | |
| rs1003069011 | -- | 168,529,070(+) | GATCA(A/G)TAGTC | upstream-variant-2KB | |
| rs1003429082 | -- | 168,529,325(+) | AGGGG(C/T)GGCTC | upstream-variant-2KB | |
| rs1005638430 | -- | 168,530,950(+) | GAATG(C/T)TGGTG | downstream-variant-500B |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1073931 | CNV | deletion | 25765185 |
| nsv1119046 | CNV | deletion | 24896259 |
Gene Damage Index Score:
10.16;
90.35% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FBLL1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FBLL1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLL1 Gene
Disorders for FBLL1 Gene
Relevant External Links for FBLL1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- 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
- RSPO-LGR4 functions via IQGAP1 to potentiate Wnt signaling. (PMID: 24639526) Carmon K.S. … Liu Q. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 64
- Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods N.T. … Monteiro A.N. (Sci Signal 2012) 3 64
- Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3 64
- The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 4 64
Products for FBLL1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Custom Antibody Services
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- Custom Assay Services
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Custom all cDNA clones Services for FBLL1
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- Sino Biological Transfection Reagents
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Invitrogen Antibodies for FBLL1
- Search ViGene Biosciences for FBLL1
- Cyagen custom Knockout/knockin (KOKI) mouse models for FBLL1
- VectorBuilder custom plasmid, inducible vectors for FBLL1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FBLL1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FBLL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer