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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FCF1 Gene

protein-coding   GIFtS: 50
GCID: GC14P075179

FCF1 small subunit (SSU) processome component homolog (S....

(Previous name: chromosome 14 open reading frame 111 )
(Previous symbol: C14orf111)
 Explore 4 diseases affiliated with
FCF1 via our new
 Human Malady Compendium 
Biological research products
for FCF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
FCF1 Small Subunit (SSU) Processome Component Homolog (S. Cerevisiae)1 2     CGI-351
C14orf1111 2 3     Chromosome 14 Open Reading Frame 1111
Bka1 2     RRNA-Processing Protein FCF1 Homolog2
UTP241 2     

External Ids:    HGNC: 202201   Entrez Gene: 510772   Ensembl: ENSG000001196167   UniProtKB: Q9Y3243   

Export aliases for FCF1 gene to outside databases

Previous GC identifer: GC14P074250


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: FCF1_HUMAN, Q9Y324
Function: Essential protein involved in pre-rRNA processing and 40S ribosomal subunit assembly (By similarity)

Gene Wiki entry for FCF1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FCF1 gene promoter:
         TBP   RP58   C/EBPbeta   AML1a   Pax-5   NCX/Ncx   Bach2   FOXD1   AREB6   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFCF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FCF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FCF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.2

FCF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FCF1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P075179:  view genomic region     (about GC identifiers)

Start:
75,179,847 bp from pter      End:
75,203,394 bp from pter
Size:
23,548 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FCF1_HUMAN, Q9Y324 (See protein sequence)
Recommended Name: rRNA-processing protein FCF1 homolog  
Size: 198 amino acids; 23370 Da
Subcellular location: Nucleus, nucleolus (By similarity)
Sequence caution: Sequence=CAD62599.1; Type=Erroneous initiation;
Secondary accessions: Q86TW8 Q8TBL8

Explore the universe of human proteins at neXtProt for FCF1: NX_Q9Y324

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y324

  • FCF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057046.1  
    ENSEMBL proteins: 
     ENSP00000450750   ENSP00000344393   ENSP00000451345   ENSP00000452415   ENSP00000444939  
     ENSP00000452497   ENSP00000452297  

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    Uscn Proteins for FCF1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--


    FCF1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FCF1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FCF1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006984 DUF652
     IPR006596 PINc_nuc-bd

    Graphical View of Domain Structure for InterPro Entry Q9Y324

    ProtoNet protein and cluster: Q9Y324

    UniProtKB/Swiss-Prot: FCF1_HUMAN, Q9Y324
    Similarity: Belongs to the UTP23/FCF1 family. FCF1 subfamily
    Similarity: Contains 1 PINc domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FCF1_HUMAN, Q9Y324
    Function: Essential protein involved in pre-rRNA processing and 40S ribosomal subunit assembly (By similarity)

    miRNA
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    hsa-miR-196a*
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FCF1

    4 GenomeRNAi human phenotypes for FCF1:
     Increased S DNA content  Nuclear 40S maturation defects  Nucleolar pre-40S maturation d  S arrest 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for FCF1):
        Ribosome biogenesis in eukaryotes


    FCF1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FCF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/9 Interacting proteins for FCF1 (Q9Y3243 ENSP000003443934) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDX55Q8NHQ93, ENSP000002381464I2D: score=1 STRING: ENSP00000238146
    NOP58Q9Y2X33, ENSP000002642794I2D: score=1 STRING: ENSP00000264279
    RPF2Q9H7B23, ENSP000004023384I2D: score=1 STRING: ENSP00000402338
    ATP2B3Q167203I2D: score=4 
    RPS6P627533I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing IEA--


    FCF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FCF1
    Search CenterWatch for drugs/clinical trials and news about FCF1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FCF1 gene: 
    NM_015962.4  

    Unigene Clusters for FCF1:

    FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)
    Hs.579828  [show with all ESTs], Hs.711584
    Unigene Representative Sequences: BX647810, AK057060
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554590(uc001xqe.1) ENST00000341162(uc001xqf.1 uc001xqh.3 uc001xqi.3)
    ENST00000556814 ENST00000554064 ENST00000534938 ENST00000553615 ENST00000553673
    ENST00000554973

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate FCF1:
    hsa-miR-196a*
    SwitchGear 3'UTR luciferase reporter plasmidFCF1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: AK057060.1 

    9 DOTS entries:

    DT.110617  DT.40197682  DT.91802988  DT.99938946  DT.120764240  DT.95265936  DT.40294170  DT.100781995 
    DT.100806110 

    24/93 AceView cDNA sequences (see all 93):

    BX375948 CB242025 AW207607 NM_015962 AI458738 CB266592 CR598081 BM699058 
    BC062726 AW069038 BX248271 BF939064 AA310320 N47824 BC080600 BQ028590 
    CB160865 BE218972 BX384522 N32600 BX489015 AI184760 CA439714 BC022361 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FCF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGCGAATGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See FCF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FCF1

    SOURCE GeneReport for Unigene clusters: Hs.579828 Hs.711584
        SABiosciences Custom PCR Arrays for FCF1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FCF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FCF1 gene from 9/35 species (see all 35)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FCF11 FCF1 small subunit (SSU) processome component homolog more 78.45(n)
    90.91(a)
      423355  XM_421270.3  XP_421270.1 
    lizard
    (Anolis carolinensis)
    Reptilia FCF16
    --
    97(a)
    1 ↔ 1
    1(22860717-22864405)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.208812 Xenopus laevis transcribed sequence with moderate similarity more 87.89(n)    BX852247.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc51c122 wufc51c12 80.22(n)   325009  CK027871.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bka1 Bekka 65.97(n)
    71.87(a)
      46032  NM_080128.3  NP_524867.2 
    worm
    (Caenorhabditis elegans)
    Secernentea F30A10.91 Protein F30A10.9 60.79(n)
    59.59(a)
      172780  NM_060122.3  NP_492523.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FCF1(YDR339C)4
    FCF11
    Putative PINc domain nuclease required for early cleavages more4
    Fcf1p1
    60.93(n)1
    63.98(a)1
      4(1150520-1149951)4
    8519391, 4  NP_010626.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G462301 PIN domain-containing protein 65.46(n)
    67.01(a)
      819231  NM_130186.5  NP_566068.1 
    rice
    (Oryza sativa)
    Liliopsida Os.332062 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.18(n)    AK059986.1 


    ENSEMBL Gene Tree for FCF1 (if available)
    TreeFam Gene Tree for FCF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FCF1 gene
    2 SIMAP similar genes for FCF1 using alignment to 8 protein entries:     FCF1_HUMAN (see all proteins):
    DKFZp686O2396    UTP23

    FCF1 for paralogs           About GeneDecksing


    5/11 Pseudogenes.org Pseudogenes for FCF1 (see all 11)
    PGOHUM00000244021 PGOHUM00000244521 PGOHUM00000237620 PGOHUM00000238123 PGOHUM00000245537


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/318 NCBI SNPs in FCF1 are shown (see all 318    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1867933161,2
    --75181842(+) TTCCCC/GTAAAA 1 -- int10--------
    rs1172691191,2
    --75181925(+) TTTAAC/TACACC 1 -- int11Minor allele frequency- T:0.01NA 120
    rs1916359851,2
    --75181945(+) TAAAAC/GAGAGA 1 -- int10--------
    rs93236021,2
    C,F,--75182008(+) TAAAGA/C/G/
            
    TATGA
    1 -- int14NA WA 242
    rs1831523671,2
    --75182097(+) CCTTAC/TTTTTC 1 -- int10--------
    rs1392392851,2
    --75182124(+) TGGTAA/GTGGAC 1 -- int10--------
    rs1856125521,2
    --75182227(+) CCTGCC/TGTAGT 1 -- int10--------
    rs1903776421,2
    --75182296(+) AATCCA/TTTAAG 1 -- int10--------
    rs1499875491,2
    --75182313(+) AAACGG/TGTTGT 1 -- int10--------
    rs619789001,2
    --75182315(+) ACGTGG/TTGTTG 1 -- int11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for FCF1 (75179847 - 75203394 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FCF1
         1 CNV: 4839

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FCF1 for disorders           About GeneDecksing

    4 diseases for FCF1:    About MalaCards
    eumycotic mycetoma    candida glabrata    mycetoma    malaria


    Export disorders for FCF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FCF1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FCF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fcf1p and Fcf2p are novel nucleolar Saccharomyces cerevisiae proteins involved in pre-rRNA processing. (PubMed id 16762320)1, 3 Rempola B....Rytka J. (2006)
    2. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)
    4. Nucleolar proteome dynamics. (PubMed id 15635413)1 Andersen J.S....Mann M. (2005)
    5. SMART amplification combined with cDNA size fractionation in order to obtain large full-length clones. (PubMed id 15198809)1 Wellenreuther R....The German cDNA Consortium (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1 Wiemann S.... Poustka A. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51077 HGNC: 20220 AceView: C14orf111 Ensembl:ENSG00000119616 euGenes: HUgn51077
    ECgene: FCF1 Kegg: 51077 H-InvDB: FCF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FCF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FCF1 gene:
    Search GeneIP for patents involving FCF1

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