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    FCF1 FCF1 rRNA-processing protein [ Homo sapiens (human) ]

    Gene ID: 51077, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FCF1provided by HGNC
    Official Full Name
    FCF1 rRNA-processing proteinprovided by HGNC
    Primary source
    HGNC:HGNC:20220
    See related
    Ensembl:ENSG00000119616 AllianceGenome:HGNC:20220
    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
    Also known as
    Bka; UTP24; CGI-35; C14orf111
    Summary
    Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Part of small-subunit processome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.5), colon (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FCF1 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74713144..74738620)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (68922243..68947721)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75179847..75205323)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene Neighboring gene apoptosis resistant E3 ubiquitin protein ligase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8730 Neighboring gene YLP motif containing 1 Neighboring gene uncharacterized LOC105370569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8731

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. hUTP24 is essential for processing of the human rRNA precursor at site A1, but not at site A0. Tomecki R, et al. RNA Biol, 2015. PMID 26237581, Free PMC Article
    2. SMART amplification combined with cDNA size fractionation in order to obtain large full-length clones. Wellenreuther R, et al. BMC Genomics, 2004 Jun 15. PMID 15198809, Free PMC Article
    3. Structural and functional analysis of Utp24, an endonuclease for processing 18S ribosomal RNA. An W, et al. PLoS One, 2018. PMID 29641590, Free PMC Article
    4. The ribosome biogenesis factor yUtp23/hUTP23 coordinates key interactions in the yeast and human pre-40S particle and hUTP23 contains an essential PIN domain. Wells GR, et al. Nucleic Acids Res, 2017 May 5. PMID 28082392, Free PMC Article
    5. Fcf1p and Fcf2p are novel nucleolar Saccharomyces cerevisiae proteins involved in pre-rRNA processing. Rempola B, et al. Biochem Biophys Res Commun, 2006 Jul 28. PMID 16762320

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. hUTP24 inactivation leads to aberrant processing of 18S rRNA 2 nucleotides downstream of the normal A1 cleavage site.
      Title: hUTP24 is essential for processing of the human rRNA precursor at site A1, but not at site A0.
    Submit: New GeneRIF Correction

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC99629

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    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-processing protein FCF1 homolog
    Names
    FCF1 small subunit

    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_001318508.2 → NP_001305437.1  rRNA-processing protein FCF1 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC007956
      Consensus CDS
      CCDS81827.1
      UniProtKB/TrEMBL
      A0A024R6D0, G3V1S4
      Related
      ENSP00000444939.2, ENST00000534938.6
      Conserved Domains (1) summary
      cd09864
      Location:45 → 175
      PIN_Fcf1-like; VapC-like PIN domain of rRNA-processing protein, Fcf1 (Utp24, YDR339C), and other eukaryotic homologs

    2. NM_015962.5 → NP_057046.1  rRNA-processing protein FCF1 homolog isoform 1

      See identical proteins and their annotated locations for NP_057046.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC007956, BX489015, BX647810
      Consensus CDS
      CCDS9832.1
      UniProtKB/Swiss-Prot
      Q86TW8, Q8TBL8, Q9Y324
      UniProtKB/TrEMBL
      Q4FZ45
      Related
      ENSP00000344393.4, ENST00000341162.8
      Conserved Domains (1) summary
      cd09864
      Location:57 → 187
      PIN_Fcf1-like; VapC-like PIN domain of rRNA-processing protein, Fcf1 (Utp24, YDR339C), and other eukaryotic homologs

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      74713144..74738620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536816.4 → XP_011535118.1  rRNA-processing protein FCF1 homolog isoform X2

      Conserved Domains (1) summary
      cd09864
      Location:19 → 153
      PIN_Fcf1; PIN domain of rRNA-processing protein, Fcf1 (Utp24, YDR339C), and other eukaryotic homologs

    2. XM_011536815.4 → XP_011535117.1  rRNA-processing protein FCF1 homolog isoform X1

      See identical proteins and their annotated locations for XP_011535117.1

      Conserved Domains (1) summary
      cd09864
      Location:33 → 163
      PIN_Fcf1-like; VapC-like PIN domain of rRNA-processing protein, Fcf1 (Utp24, YDR339C), and other eukaryotic homologs

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      68922243..68947721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376168.1 → XP_054232143.1  rRNA-processing protein FCF1 homolog isoform X2

    2. XM_054376167.1 → XP_054232142.1  rRNA-processing protein FCF1 homolog isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y324.1 GenPept UniProtKB/Swiss-Prot:Q9Y324

    Gene LinkOut

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