FBL fibrillarin [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBLprovided by HGNC
Official Full Name: fibrillarinprovided by HGNC
Primary source: HGNC:HGNC:3599
See related: Ensembl:ENSG00000105202 MIM:134795; AllianceGenome:HGNC:3599
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FIB; FLRN; Nop1; RNU3IP1
Summary: 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]
Expression: Ubiquitous expression in ovary (RPKM 114.7), bone marrow (RPKM 68.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (39834458..39846379, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (42639380..42651301, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (40325098..40337019, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fibrillarin reprograms glucose metabolism by driving the enhancer-mediated transcription of PFKFB4 in liver cancer.
Title: Fibrillarin reprograms glucose metabolism by driving the enhancer-mediated transcription of PFKFB4 in liver cancer.
FBL promotes cancer cell resistance to DNA damage and BRCA1 transcription via YBX1.
Title: FBL promotes cancer cell resistance to DNA damage and BRCA1 transcription via YBX1.
Current research on viral proteins that interact with fibrillarin.
Title: Current research on viral proteins that interact with fibrillarin.
A PRC2-independent function for EZH2 in regulating rRNA 2'-O methylation and IRES-dependent translation.
Title: A PRC2-independent function for EZH2 in regulating rRNA 2'-O methylation and IRES-dependent translation.
Phase transition of fibrillarin LC domain regulates localization and protein interaction of fibrillarin.
Title: Phase transition of fibrillarin LC domain regulates localization and protein interaction of fibrillarin.
Fibrillarin Ribonuclease Activity is Dependent on the GAR Domain and Modulated by Phospholipids.
Title: Fibrillarin Ribonuclease Activity is Dependent on the GAR Domain and Modulated by Phospholipids.
This is the first report on the clinical aspect of ribosome biogenesis in pediatric BCP-ALL [B-cell precursor acute lymphoblastic leukemia ], and it shows that overexpression of CMYC and C/D box nucleoproteins FBL and NOP56 is an antecedent event in patients who subsequently relapse.
Title: Analysis of the rRNA methylation complex components in pediatric B-cell precursor acute lymphoblastic leukemia: A pilot study.
SIRT7-dependent deacetylation impacts nucleolar activity by an FBL-driven circuitry that mediates cell-cycle-dependent fluctuation of ribosomal DNA transcription.
Title: SIRT7-Dependent Deacetylation of Fibrillarin Controls Histone H2A Methylation and rRNA Synthesis during the Cell Cycle.
Fibrillarin acts as a central node in a regulatory network engaged in imparting immunity against bacterial pathogens.
Title: Nucleolar fibrillarin is an evolutionarily conserved regulator of bacterial pathogen resistance.
Nucleolar Methyltransferase Fibrillarin: Evolution of Structure and Functions.
Title: Nucleolar Methyltransferase Fibrillarin: Evolution of Structure and Functions.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D8S2282 (e-PCR)
- UniSTS:473910

MARC_26184-26185:1030717529:1 (e-PCR)
- UniSTS:268975

RH66838 (e-PCR)
- UniSTS:30910

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables TFIID-class transcription factor complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables U6 snRNA 2'-O-ribose methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AQ104 methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone H2AQ104 methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables rRNA methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in box C/D sno(s)RNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in rRNA methylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in rRNA processing	TAS Traceable Author Statement more info	PubMed
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in snoRNA localization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Cajal body	IBA Inferred from Biological aspect of Ancestor more info
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
part_of box C/D methylation guide snoRNP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of box C/D methylation guide snoRNP complex	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in granular component	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rRNA 2'-O-methyltransferase fibrillarin

Names: 34 kDa nucleolar scleroderma antigen; 34-kD nucleolar scleroderma antigen; RNA, U3 small nucleolar interacting protein 1; U6 snRNA 2'-O-methyltransferase fibrillarin; histone-glutamine methyltransferase

NP_001427.2

EC 2.1.1.-

XP_005258708.1

EC 2.1.1.-

XP_011524925.1

EC 2.1.1.-

XP_054176162.1

EC 2.1.1.-

XP_054176163.1

EC 2.1.1.-

XP_054187609.1

EC 2.1.1.-

XP_054187610.1

EC 2.1.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001436.4 → NP_001427.2 rRNA 2'-O-methyltransferase fibrillarin

See identical proteins and their annotated locations for NP_001427.2

Status: REVIEWED

Source sequence(s)

BC019260, BG831506

Consensus CDS

CCDS12545.1

UniProtKB/Swiss-Prot

B5BUE8, O75259, P22087, Q6IAT5, Q9UPI6

UniProtKB/TrEMBL

B4DLD4

Related

ENSP00000221801.2, ENST00000221801.8

Conserved Domains (1) summary

PTZ00146
Location:82 → 320

PTZ00146; fibrillarin; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

39834458..39846379 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526623.3 → XP_011524925.1 rRNA 2'-O-methyltransferase fibrillarin isoform X2

See identical proteins and their annotated locations for XP_011524925.1

UniProtKB/TrEMBL

Q8WUT5, Q96BS4

Related

ENSP00000472419.1, ENST00000595545.5

Conserved Domains (1) summary

PTZ00146
Location:25 → 263

PTZ00146; fibrillarin; Provisional
XM_005258651.3 → XP_005258708.1 rRNA 2'-O-methyltransferase fibrillarin isoform X1

See identical proteins and their annotated locations for XP_005258708.1

UniProtKB/TrEMBL

B4DLD4

Related

ENSP00000472726.1, ENST00000601274.5

Conserved Domains (1) summary

PTZ00146
Location:81 → 319

PTZ00146; fibrillarin; Provisional

Reference GRCh38.p14 PATCHES

Genomic

NW_009646206.1 Reference GRCh38.p14 PATCHES

Range

94334..106255 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331635.1 → XP_054187610.1 rRNA 2'-O-methyltransferase fibrillarin isoform X2

UniProtKB/TrEMBL

Q8WUT5, Q96BS4
XM_054331634.1 → XP_054187609.1 rRNA 2'-O-methyltransferase fibrillarin isoform X1

UniProtKB/TrEMBL

B4DLD4

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

42639380..42651301 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320188.1 → XP_054176163.1 rRNA 2'-O-methyltransferase fibrillarin isoform X2

UniProtKB/TrEMBL

Q8WUT5, Q96BS4
XM_054320187.1 → XP_054176162.1 rRNA 2'-O-methyltransferase fibrillarin isoform X1

UniProtKB/TrEMBL

B4DLD4