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    FBLL1 fibrillarin like 1 [ Homo sapiens (human) ]

    Gene ID: 345630, updated on 10-Dec-2024

    Summary

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    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 H2AQ104 methyltransferase activity; and rRNA methyltransferase activity. Predicted to be involved in box C/D sno(s)RNA 3'-end processing and rRNA methylation. Predicted to act upstream of or within blastocyst hatching. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

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    See FBLL1 in Genome Data Viewer
    Location:
    5q34
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (168529305..168530634)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (169064086..169065415)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    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. SRCAP complex promotes lung cancer progression by reprograming the oncogenic transcription of Hippo-YAP/TAZ signaling pathway. Zhang H, et al. Cancer Lett, 2024 Mar 31. PMID 38280479

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    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

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    Preferred Names
    rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1
    Names
    protein-glutamine methyltransferase
    NP_001342203.1

    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)

    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_2024_08

    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