U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FBLL1 fibrillarin like 1 [ Homo sapiens (human) ]

Gene ID: 345630, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
FBLL1provided by HGNC
Official Full Name
fibrillarin like 1provided by HGNC
Primary source
HGNC:HGNC:35458
See related
Ensembl:ENSG00000188573 AllianceGenome:HGNC:35458
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable RNA binding activity; histone-glutamine methyltransferase activity; and rRNA methyltransferase activity. Predicted to be involved in box C/D RNA 3'-end processing; histone glutamine methylation; and rRNA methylation. Predicted to act upstream of or within blastocyst hatching. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5q34
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (168529305..168530634)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (169064086..169065415)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (167956310..167957639)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene WW and C2 domain containing 1 Neighboring gene uncharacterized LOC124901129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167792124-167792657 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:167836336-167837535 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23590 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83610 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83640 Neighboring gene arginyl-tRNA synthetase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83662 Neighboring gene Sharpr-MPRA regulatory region 5384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167956617-167957158 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:167962977-167963477 Neighboring gene solute carrier family 2 member 3 pseudogene 1 Neighboring gene pantothenate kinase 3 Neighboring gene microRNA 103a-1 Neighboring gene microRNA 103b-1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKα. Li Y, et al. EMBO Rep, 2020 May 6. PMID 32239614, Free PMC Article
  2. RSPO-LGR4 functions via IQGAP1 to potentiate Wnt signaling. Carmon KS, et al. Proc Natl Acad Sci U S A, 2014 Apr 1. PMID 24639526, Free PMC Article
  3. Transcription factor protein interactomes reveal genetic determinants in heart disease. Gonzalez-Teran B, et al. Cell, 2022 Mar 3. PMID 35182466, Free PMC Article
  4. UBE2O promotes lipid metabolic reprogramming and liver cancer progression by mediating HADHA ubiquitination. Ma M, et al. Oncogene, 2022 Nov. PMID 36273042
  5. Acetylation of ELF5 suppresses breast cancer progression by promoting its degradation and targeting CCND1. Li X, et al. NPJ Precis Oncol, 2021 Mar 19. PMID 33742100, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone H2AQ104 methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables rRNA methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in blastocyst hatching IEA
Inferred from Electronic Annotation
more info
  
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 rRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Cajal body IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of box C/D methylation guide snoRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
part_of small-subunit processome IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1
Names
protein-glutamine methyltransferase
NP_001342203.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. NM_001355274.2 → NP_001342203.1  rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1

    Status: VALIDATED

    Source sequence(s)
    AC020894
    Consensus CDS
    CCDS87345.1
    UniProtKB/Swiss-Prot
    A6NHQ2, R4GMW7
    Related
    ENSP00000473383.1, ENST00000338333.5
    Conserved Domains (1) summary
    PTZ00146
    Location:90 → 331
    PTZ00146; fibrillarin; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    168529305..168530634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    169064086..169065415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NHQ2.2 GenPept UniProtKB/Swiss-Prot:A6NHQ2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous