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Aliases for PCGF1 Gene

Aliases for PCGF1 Gene

  • Polycomb Group Ring Finger 1 2 3 5
  • Nervous System Polycomb-1 3 4
  • RING Finger Protein 68 3 4
  • NSPC1 3 4
  • RNF68 3 4
  • Polycomb Group RING Finger Protein 1 3
  • 2010002K04Rik 3
  • RNF3A-2 3

External Ids for PCGF1 Gene

Previous GeneCards Identifiers for PCGF1 Gene

  • GC02M074644
  • GC02M074646
  • GC02M074585
  • GC02M074732
  • GC02M074468

Summaries for PCGF1 Gene

Entrez Gene Summary for PCGF1 Gene

  • 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]

GeneCards Summary for PCGF1 Gene

PCGF1 (Polycomb Group Ring Finger 1) is a Protein Coding gene. Among its related pathways are Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include protein C-terminus binding. An important paralog of this gene is PCGF3.

UniProtKB/Swiss-Prot for PCGF1 Gene

  • Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin-dependent kinase inhibitor, CDKN1A. Transcriptional repressor that may be targeted to the DNA by BCL6; this transcription repressor activity may be related to PKC signaling pathway. Represses CDKN1A expression by binding to its promoter, and this repression is dependent on the retinoic acid response element (RARE element). Promotes cell cycle progression and enhances cell proliferation as well. May have a positive role in tumor cell growth by down-regulating CDKN1A. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A Lys-119, rendering chromatin heritably changed in its expressibility. Regulates the expression of DPPA4 and NANOG in the NT2 embryonic carcinoma cells (PubMed:26687479).

Gene Wiki entry for PCGF1 Gene

Additional gene information for PCGF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCGF1 Gene

Genomics for PCGF1 Gene

Regulatory Elements for PCGF1 Gene

Enhancers for PCGF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H074196 1.2 ENCODE 52.9 +309.8 309833 3 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 INO80B PCGF1 ENSG00000273245 DUSP11 WBP1 ALMS1 DGUOK-AS1 AUP1 SEMA4F TTC31
GH02H074119 1.1 ENCODE 24.8 +388.2 388218 1 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 FNBP1P1 LOC107985899 PCGF1 CCDC142 WBP1 MRPL53 DUSP11 ENSG00000273245 TTC31 MTHFD2
GH02H074528 1.2 ENCODE 21.9 -21.7 -21746 4 HDGF FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF207 ZNF143 LBX2 TTC31 CCDC142 PCGF1 DUSP11 MOB1A AUP1 MOGS MTHFD2 ENSG00000273245
GH02H074739 1.5 FANTOM5 Ensembl ENCODE 16.1 -232.4 -232437 3 PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 BRCA1 GTF3C2 FOS DEK ENSG00000273245 MOGS SEMA4F DUSP11 PCGF1 AUP1 TTC31 DGUOK-AS1 CCDC142 M1AP
GH02H073736 1.1 ENCODE 18.6 +771.4 771364 2 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF766 CBX5 ZNF143 ZNF207 SP3 PCGF1 DUSP11 CCT7 ENSG00000273245 TPRKB ALMS1 TTC31 NAT8B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCGF1 on UCSC Golden Path with GeneCards custom track

Promoters for PCGF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000291604 880 1401 HDGF MLX ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B YY1 SLC30A9

Genomic Location for PCGF1 Gene

Chromosome:
2
Start:
74,505,043 bp from pter
End:
74,508,580 bp from pter
Size:
3,538 bases
Orientation:
Minus strand

Genomic View for PCGF1 Gene

Genes around PCGF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCGF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCGF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCGF1 Gene

Proteins for PCGF1 Gene

  • Protein details for PCGF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSM1-PCGF1_HUMAN
    Recommended name:
    Polycomb group RING finger protein 1
    Protein Accession:
    Q9BSM1
    Secondary Accessions:
    • Q7Z506

    Protein attributes for PCGF1 Gene

    Size:
    259 amino acids
    Molecular mass:
    30346 Da
    Quaternary structure:
    • Component of the repressive BCOR complex containing a Polycomb group subcomplex at least composed of RYBP, RING1 and RNF2/RING2 (PubMed:16943429). Specifically interacts with BCOR, RING1 and RNF2/RING2 (PubMed:16943429, PubMed:26687479, PubMed:23523425). Also interacts with BCORL1, the interaction is direct (PubMed:23523425). Component of a PRC1-like complex (PubMed:21282530). Interacts with CBX6, CBX7 and CBX8 (PubMed:21282530). Interacts with DPPA4, NANOG, POU5F1 and RYBP (PubMed:26687479).
    SequenceCaution:
    • Sequence=AAH04952.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAP97183.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCGF1 Gene

    Alternative splice isoforms for PCGF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCGF1 Gene

Post-translational modifications for PCGF1 Gene

  • Ubiquitination at Lys74, posLast=159159, and posLast=190190
  • Modification sites at PhosphoSitePlus

Other Protein References for PCGF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCGF1 Gene

Domains & Families for PCGF1 Gene

Gene Families for PCGF1 Gene

Protein Domains for PCGF1 Gene

Suggested Antigen Peptide Sequences for PCGF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCGF1: view

No data available for UniProtKB/Swiss-Prot for PCGF1 Gene

Function for PCGF1 Gene

Molecular function for PCGF1 Gene

UniProtKB/Swiss-Prot Function:
Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin-dependent kinase inhibitor, CDKN1A. Transcriptional repressor that may be targeted to the DNA by BCL6; this transcription repressor activity may be related to PKC signaling pathway. Represses CDKN1A expression by binding to its promoter, and this repression is dependent on the retinoic acid response element (RARE element). Promotes cell cycle progression and enhances cell proliferation as well. May have a positive role in tumor cell growth by down-regulating CDKN1A. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A Lys-119, rendering chromatin heritably changed in its expressibility. Regulates the expression of DPPA4 and NANOG in the NT2 embryonic carcinoma cells (PubMed:26687479).

Gene Ontology (GO) - Molecular Function for PCGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16943429
GO:0008022 protein C-terminus binding IPI 16943429
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PCGF1: view
genes like me logo Genes that share phenotypes with PCGF1: view

Animal Models for PCGF1 Gene

MGI Knock Outs for PCGF1:

Animal Model Products

CRISPR Products

miRNA for PCGF1 Gene

miRTarBase miRNAs that target PCGF1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PCGF1
  • Applied Biological Materials Clones for PCGF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCGF1 Gene

Localization for PCGF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCGF1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCGF1 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PCGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 21282530
GO:0005654 nucleoplasm IDA --
GO:0031519 PcG protein complex IDA 16943429
genes like me logo Genes that share ontologies with PCGF1: view

Pathways & Interactions for PCGF1 Gene

genes like me logo Genes that share pathways with PCGF1: view

Pathways by source for PCGF1 Gene

Gene Ontology (GO) - Biological Process for PCGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 26687479
GO:0035518 histone H2A monoubiquitination IDA 16943429
GO:0036353 histone H2A-K119 monoubiquitination IMP 26151332
genes like me logo Genes that share ontologies with PCGF1: view

No data available for SIGNOR curated interactions for PCGF1 Gene

Drugs & Compounds for PCGF1 Gene

No Compound Related Data Available

Transcripts for PCGF1 Gene

Unigene Clusters for PCGF1 Gene

Polycomb group ring finger 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PCGF1
  • Applied Biological Materials Clones for PCGF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PCGF1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: -
SP5:
SP6:

Relevant External Links for PCGF1 Gene

GeneLoc Exon Structure for
PCGF1
ECgene alternative splicing isoforms for
PCGF1

Expression for PCGF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCGF1 Gene

Protein differential expression in normal tissues from HIPED for PCGF1 Gene

This gene is overexpressed in Plasma (61.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCGF1 Gene



Protein tissue co-expression partners for PCGF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCGF1 Gene:

PCGF1

SOURCE GeneReport for Unigene cluster for PCGF1 Gene:

Hs.316750

mRNA Expression by UniProt/SwissProt for PCGF1 Gene:

Q9BSM1-PCGF1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with PCGF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCGF1 Gene

Orthologs for PCGF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCGF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCGF1 33 34
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia PCGF1 33 34
  • 94.72 (n)
oppossum
(Monodelphis domestica)
Mammalia PCGF1 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PCGF1 33 34
  • 93.44 (n)
mouse
(Mus musculus)
Mammalia Pcgf1 33 16 34
  • 91.5 (n)
rat
(Rattus norvegicus)
Mammalia Pcgf1 33
  • 90.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PCGF1 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCGF1 33 34
  • 76.27 (n)
lizard
(Anolis carolinensis)
Reptilia PCGF1 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20413 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19589 33
zebrafish
(Danio rerio)
Actinopterygii pcgf1 33 34
  • 71.26 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6470 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.692 33
Species where no ortholog for PCGF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCGF1 Gene

ENSEMBL:
Gene Tree for PCGF1 (if available)
TreeFam:
Gene Tree for PCGF1 (if available)

Paralogs for PCGF1 Gene

Paralogs for PCGF1 Gene

(7) SIMAP similar genes for PCGF1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for PCGF1 Gene

genes like me logo Genes that share paralogs with PCGF1: view

Variants for PCGF1 Gene

Sequence variations from dbSNP and Humsavar for PCGF1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000515517 -- 74,504,920(+) TTTGG(C/T)AAGAC intron-variant, nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB
rs1002148092 -- 74,510,095(+) AGATG(A/G)AGAGA upstream-variant-2KB
rs1002524278 -- 74,507,717(+) GGGCG(A/G)GACTT nc-transcript-variant, upstream-variant-2KB
rs1003934282 -- 74,508,824(+) TTTTT(A/G)TTCAT upstream-variant-2KB
rs1004503452 -- 74,507,402(+) GACAC(A/C)ACGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCGF1 Gene

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850
esv3445786 CNV insertion 20981092
nsv458185 CNV loss 19166990
nsv515851 CNV loss 19592680
nsv582214 CNV loss 21841781
nsv582215 CNV loss 21841781

Variation tolerance for PCGF1 Gene

Residual Variation Intolerance Score: 53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCGF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCGF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCGF1 Gene

Disorders for PCGF1 Gene

Relevant External Links for PCGF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCGF1

No disorders were found for PCGF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCGF1 Gene

Publications for PCGF1 Gene

  1. NSPc1, a novel mammalian Polycomb gene, is expressed in neural crest-derived structures of the peripheral nervous system. (PMID: 11287196) Nunes M … McElreavey K (Mechanisms of development 2001) 2 3 4 60
  2. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. (PMID: 26687479) Oliviero G … Cagney G (Scientific reports 2015) 3 4 60
  3. Structure of the polycomb group protein PCGF1 in complex with BCOR reveals basis for binding selectivity of PCGF homologs. (PMID: 23523425) Junco SE … Kim CA (Structure (London, England : 1993) 2013) 3 4 60
  4. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 complexes in mammalian cells. (PMID: 21282530) Vandamme J … Angrand PO (Molecular & cellular proteomics : MCP 2011) 3 4 60
  5. Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets. (PMID: 16943429) Gearhart MD … Bardwell VJ (Molecular and cellular biology 2006) 3 4 60

Products for PCGF1 Gene

  • Addgene plasmids for PCGF1

Sources for PCGF1 Gene

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