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    PCGF1 polycomb group ring finger 1 [ Homo sapiens (human) ]

    Gene ID: 84759, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PCGF1provided by HGNC
    Official Full Name
    polycomb group ring finger 1provided by HGNC
    Primary source
    HGNC:HGNC:17615
    See related
    Ensembl:ENSG00000115289 MIM:610231; AllianceGenome:HGNC:17615
    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
    NSPC1; RNF68; RNF3A-2; 2010002K04Rik
    Summary
    PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.8), testis (RPKM 3.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCGF1 in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74505043..74507695, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74513608..74522718, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74732170..74734822, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16065 Neighboring gene tetratricopeptide repeat domain 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16066 Neighboring gene ladybird homeobox 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74729628-74730252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74730253-74730878 Neighboring gene LBX2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74734085-74735015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74739895-74740563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74742813-74743314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74743315-74743814 Neighboring gene T cell leukemia homeobox 2 Neighboring gene DEAQ-box RNA dependent ATPase 1

    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 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. Stem cells and cancer; the polycomb connection. Valk-Lingbeek ME, et al. Cell, 2004 Aug 20. PMID 15315754
    2. NSPc1 is a cell growth regulator that acts as a transcriptional repressor of p21Waf1/Cip1 via the RARE element. Gong Y, et al. Nucleic Acids Res, 2006. PMID 17088287, Free PMC Article
    3. PCGF1 promotes epigenetic activation of stemness markers and colorectal cancer stem cell enrichment. Ji G, et al. Cell Death Dis, 2021 Jun 19. PMID 34148069, Free PMC Article
    4. Balanced Epigenetic Regulation of MHC Class I Expression in Tumor Cells by the Histone Ubiquitin Modifiers BAP1 and PCGF1. Wijdeven RH, et al. J Immunol, 2024 Feb 1. PMID 38088808
    5. Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia. Xie L, et al. Acta Biochim Biophys Sin (Shanghai), 2023 Feb 25. PMID 36815373, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Balanced Epigenetic Regulation of MHC Class I Expression in Tumor Cells by the Histone Ubiquitin Modifiers BAP1 and PCGF1.
      Title: Balanced Epigenetic Regulation of MHC Class I Expression in Tumor Cells by the Histone Ubiquitin Modifiers BAP1 and PCGF1.
    2. MORC4 plays a tumor-promoting role in colorectal cancer via regulating PCGF1/CDKN1A axis in vitro and in vivo.
      Title: MORC4 plays a tumor-promoting role in colorectal cancer via regulating PCGF1/CDKN1A axis in vitro and in vivo.
    3. Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia.
      Title: Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia.
    4. PCGF1 promotes epigenetic activation of stemness markers and colorectal cancer stem cell enrichment.
      Title: PCGF1 promotes epigenetic activation of stemness markers and colorectal cancer stem cell enrichment.
    5. Structure and Role of BCOR PUFD in Noncanonical PRC1 Assembly and Disease.
      Title: Structure and Role of BCOR PUFD in Noncanonical PRC1 Assembly and Disease.
    6. The results of the present study demonstrated that miR320a inhibition decreased insulininduced KGN cell proliferation and apoptosis by targeting PCGF1.
      Title: MicroRNA‑320a inhibition decreases insulin‑induced KGN cell proliferation and apoptosis by targeting PCGF1.
    7. these results demonstrate that NSPc1 promotes cancer stem cell self-renewal by repressing the synthesis of all-trans retinoic acid via targeting RDH16 and may provide novel targets for glioma treatment in the future.
      Title: NSPc1 promotes cancer stem cell self-renewal by repressing the synthesis of all-trans retinoic acid via targeting RDH16 in malignant glioma.
    8. knockdown of PCGF1 results in reduced expression of DPPA4 and other subunits of the variant PRC1 complex at both mRNA and protein levels. Thus, PCGF1 represents a physical and functional link between Polycomb function and pluripotency
      Title: The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis.
    9. polycomb has a role in stem cell fate and development of cancer (review)
      Title: Stem cells and cancer; the polycomb connection.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of polycomb group ring finger 1 (PCGF1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • FLJ43754, MGC10882

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables promoter-specific chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of PRC1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of PcG protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    polycomb group RING finger protein 1
    Names
    RING finger protein 68
    nervous system Polycomb-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_032673.3 → NP_116062.2  polycomb group RING finger protein 1

      See identical proteins and their annotated locations for NP_116062.2

      Status: VALIDATED

      Source sequence(s)
      AC005041, BC004952, BU602498
      Consensus CDS
      CCDS1946.2
      UniProtKB/Swiss-Prot
      Q7Z506, Q9BSM1
      Related
      ENSP00000233630.6, ENST00000233630.11
      Conserved Domains (2) summary
      cd16733
      Location:44 → 86
      RING-HC_PCGF1; RING finger, HC subclass, found in polycomb group RING finger protein 1 (PCGF1) and similar proteins
      cd17081
      Location:166 → 253
      RAWUL_PCGF1; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in polycomb group RING finger protein 1 (PCGF1) and similar proteins

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      74505043..74507695 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74513608..74522718 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344227.1 → XP_054200202.1  polycomb group RING finger protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q7Z506, Q9BSM1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSM1.2 GenPept UniProtKB/Swiss-Prot:Q9BSM1

    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
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