FBLL1 fibrillarin like 1 [Homo sapiens (human)] - Gene

Summary

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
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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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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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

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Preferred Names: rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1

Names: protein-glutamine methyltransferase

NP_001342203.1

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_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