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

Gene ID: 51077, updated on 11-Apr-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. Predicted to be involved in rRNA processing. Predicted to act upstream of or within endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleoplasm. Predicted to be part of small-subunit processome. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 6.5), colon (RPKM 5.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74713144..74738620)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (68922243..68947721)
105.20220307 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 (34) 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)

Genotypes

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_2023_10

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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