The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein ... See more...

Aliases for PCGF6 Gene

Aliases for PCGF6 Gene

  • Polycomb Group Ring Finger 6 2 3 5
  • Polycomb Group RING Finger Protein 6 3 4
  • Ring Finger Protein 134 2 3
  • RNF134 3 4
  • MBLR 3 4
  • Mel18 And Bmi1-Like RING Finger Protein 3
  • Mel18 And Bmi1-Like RING Finger 4
  • RING Finger Protein 134 4

External Ids for PCGF6 Gene

Previous HGNC Symbols for PCGF6 Gene

  • RNF134

Previous GeneCards Identifiers for PCGF6 Gene

  • GC10M105053
  • GC10M098693

Summaries for PCGF6 Gene

Entrez Gene Summary for PCGF6 Gene

  • The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCGF6 Gene

PCGF6 (Polycomb Group Ring Finger 6) is a Protein Coding gene. Among its related pathways are Signaling pathways regulating pluripotency of stem cells. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is COMMD3-BMI1.

UniProtKB/Swiss-Prot Summary for PCGF6 Gene

  • Transcriptional repressor (PubMed:12167161). May modulate the levels of histone H3K4Me3 by activating KDM5D histone demethylase (PubMed:17320162). 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 (PubMed:12167161). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332).

Gene Wiki entry for PCGF6 Gene

Additional gene information for PCGF6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCGF6 Gene

Genomics for PCGF6 Gene

GeneHancer (GH) Regulatory Elements for PCGF6 Gene

Promoters and enhancers for PCGF6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J103349 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.4 426 2.2 NRF1 POLR2G RBAK GTF2E2 PHF8 SIX5 ZFX ZNF10 ZIC2 ZBTB10 PCGF6 RF00017-791 lnc-ATP5MD-1 SLK MIR1307 PDCD11 ATP5MD RNU11-3P ENSG00000260461 NEURL1-AS1
GH10J103691 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19 -341.4 -341393 2.3 SIN3A NRF1 SP1 EP300 ZBTB10 ZBTB26 SAP30 RELA RCOR1 POLR2A ENSG00000260461 PCGF6 SFR1 SLK PDCD11 SH3PXD2A CALHM2 NEURL1 NEURL1-AS1 STN1
GH10J103490 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 22.1 -141.6 -141572 4.6 EP300 USF1 SP1 JUND FOS ZNF639 ZIC2 ZBTB10 ZNF423 ZBTB26 NEURL1 PCGF6 CALHM1 NEURL1-AS1 PDCD11 BORCS7 CALHM3
GH10J102418 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.2 +930.2 930198 5.1 EP300 ZBTB40 ZNF217 CTCF TCF12 SIN3A MYC NRF1 USF1 POLR2G FBXL15 PSD lnc-PSD-1 PPRC1 PDCD11 PCGF6 SFXN2 LDB1 HPS6 PITX3
GH10J102743 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.2 +606.5 606521 3.2 ZBTB40 ZNF217 TCF12 SIN3A NRF1 POLR2G SP1 NCOR1 RBAK PHF8 WBP1L CYP17A1-AS1 PDCD11 PPRC1 SFXN2 AS3MT PCGF6 CALHM2 GBF1 CYP17A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCGF6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCGF6

Top Transcription factor binding sites by QIAGEN in the PCGF6 gene promoter:
  • AML1a
  • c-Myb
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • NRSF form 2
  • Pax-5
  • SEF-1 (1)
  • YY1

Genomic Locations for PCGF6 Gene

Genomic Locations for PCGF6 Gene
chr10:103,302,796-103,351,144
(GRCh38/hg38)
Size:
48,349 bases
Orientation:
Minus strand
chr10:105,062,553-105,110,891
(GRCh37/hg19)
Size:
48,339 bases
Orientation:
Minus strand

Genomic View for PCGF6 Gene

Genes around PCGF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCGF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCGF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCGF6 Gene

Proteins for PCGF6 Gene

  • Protein details for PCGF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYE7-PCGF6_HUMAN
    Recommended name:
    Polycomb group RING finger protein 6
    Protein Accession:
    Q9BYE7
    Secondary Accessions:
    • A8K3R4
    • Q5SYD1
    • Q5SYD6
    • Q96ID9
    • Q96SJ1

    Protein attributes for PCGF6 Gene

    Size:
    350 amino acids
    Molecular mass:
    39047 Da
    Quaternary structure:
    • Component of a PRC1-like complex (PubMed:19636380, PubMed:26151332). Interacts with BMI1/PCGF4, RING1 and RNF2 (PubMed:12167161). Interacts with KDM5D (PubMed:17320162). Interacts with CBX4, CBX6, CBX7 and CBX8 (PubMed:21282530).

    Three dimensional structures from OCA and Proteopedia for PCGF6 Gene

    Alternative splice isoforms for PCGF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCGF6 Gene

Post-translational modifications for PCGF6 Gene

  • Phosphorylated during mitosis. Phosphorylated on Ser-30 by CDK7 in vitro.
  • Ubiquitination at Lys290 and Lys239
  • Modification sites at PhosphoSitePlus

Other Protein References for PCGF6 Gene

No data available for DME Specific Peptides for PCGF6 Gene

Domains & Families for PCGF6 Gene

Gene Families for PCGF6 Gene

Protein Domains for PCGF6 Gene

Blocks:
  • Zn-finger, RING
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PCGF6 Gene

GenScript: Design optimal peptide antigens:
  • RING finger protein 134 (PCGF6_HUMAN)
genes like me logo Genes that share domains with PCGF6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PCGF6 Gene

Function for PCGF6 Gene

Molecular function for PCGF6 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor (PubMed:12167161). May modulate the levels of histone H3K4Me3 by activating KDM5D histone demethylase (PubMed:17320162). 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 (PubMed:12167161). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332).

Phenotypes From GWAS Catalog for PCGF6 Gene

Gene Ontology (GO) - Molecular Function for PCGF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA,IBA 21873635
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IDA 8521824
GO:0003700 DNA-binding transcription factor activity IBA,IDA 8521824
GO:0005515 protein binding IPI 21282530
genes like me logo Genes that share ontologies with PCGF6: view
genes like me logo Genes that share phenotypes with PCGF6: view

Animal Models for PCGF6 Gene

MGI Knock Outs for PCGF6:

Animal Model Products

CRISPR Products

miRNA for PCGF6 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCGF6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCGF6 Gene

Localization for PCGF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCGF6 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 PCGF6 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
cytosol 0

Gene Ontology (GO) - Cellular Components for PCGF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 21282530
GO:0005654 nucleoplasm TAS --
GO:0031519 PcG protein complex IEA,TAS 8521824
GO:0035102 PRC1 complex IDA,IEA 19636380
genes like me logo Genes that share ontologies with PCGF6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCGF6 Gene

Pathways & Interactions for PCGF6 Gene

genes like me logo Genes that share pathways with PCGF6: view

Pathways by source for PCGF6 Gene

SIGNOR curated interactions for PCGF6 Gene

Other effect:

Gene Ontology (GO) - Biological Process for PCGF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0036353 histone H2A-K119 monoubiquitination IMP,IBA 26151332
GO:0045892 negative regulation of transcription, DNA-templated IDA,IEA 8521824
GO:0045944 positive regulation of transcription by RNA polymerase II IBA 21873635
GO:0060819 inactivation of X chromosome by genetic imprinting IBA 21873635
genes like me logo Genes that share ontologies with PCGF6: view

Drugs & Compounds for PCGF6 Gene

No Compound Related Data Available

Transcripts for PCGF6 Gene

mRNA/cDNA for PCGF6 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCGF6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCGF6 Gene

No ASD Table

Relevant External Links for PCGF6 Gene

GeneLoc Exon Structure for
PCGF6

Expression for PCGF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCGF6 Gene

Protein differential expression in normal tissues from HIPED for PCGF6 Gene

This gene is overexpressed in Breast (50.9) and Lung (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCGF6 Gene



Protein tissue co-expression partners for PCGF6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCGF6

SOURCE GeneReport for Unigene cluster for PCGF6 Gene:

Hs.335808

mRNA Expression by UniProt/SwissProt for PCGF6 Gene:

Q9BYE7-PCGF6_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PCGF6 Gene

  • Liver(4.2)
  • Eye(4)
genes like me logo Genes that share expression patterns with PCGF6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCGF6 Gene

Orthologs for PCGF6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCGF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCGF6 31 30
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PCGF6 30
  • 94.09 (n)
-- 31
  • 94 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PCGF6 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCGF6 31 30
  • 92.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pcgf6 17 31 30
  • 89.1 (n)
rat
(Rattus norvegicus)
Mammalia Pcgf6 30
  • 88.46 (n)
oppossum
(Monodelphis domestica)
Mammalia PCGF6 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCGF6 31 30
  • 74.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCGF6 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcgf6 30
  • 74.31 (n)
zebrafish
(Danio rerio)
Actinopterygii pcgf6 31 30
  • 62.05 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10855 31
  • 28 (a)
OneToOne
Species where no ortholog for PCGF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 PCGF6 Gene

ENSEMBL:
Gene Tree for PCGF6 (if available)
TreeFam:
Gene Tree for PCGF6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCGF6: view image

Paralogs for PCGF6 Gene

Paralogs for PCGF6 Gene

(7) SIMAP similar genes for PCGF6 Gene using alignment to 1 proteins:

  • PCGF6_HUMAN

Pseudogenes.org Pseudogenes for PCGF6 Gene

genes like me logo Genes that share paralogs with PCGF6: view

Variants for PCGF6 Gene

Additional dbSNP identifiers (rs#s) for PCGF6 Gene

Structural Variations from Database of Genomic Variants (DGV) for PCGF6 Gene

Variant ID Type Subtype PubMed ID
dgv39e215 CNV deletion 23714750
esv2664207 CNV deletion 23128226
esv2740273 CNV deletion 23290073
esv3624411 CNV loss 21293372
esv8301 CNV loss 19470904
nsv1069072 CNV deletion 25765185
nsv1125509 CNV tandem duplication 24896259
nsv1134049 CNV deletion 24896259
nsv1146943 CNV deletion 26484159
nsv25055 CNV deletion 16902084
nsv509365 CNV insertion 20534489
nsv955924 CNV deletion 24416366

Variation tolerance for PCGF6 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.79; 95.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCGF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCGF6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCGF6 Gene

Disorders for PCGF6 Gene

Additional Disease Information for PCGF6

No disorders were found for PCGF6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCGF6 Gene

Publications for PCGF6 Gene

  1. MBLR, a new RING finger protein resembling mammalian Polycomb gene products, is regulated by cell cycle-dependent phosphorylation. (PMID: 12167161) Akasaka T … Koga H (Genes to cells : devoted to molecular & cellular mechanisms 2002) 2 3 4 54
  2. BMI1-RING1B is an autoinhibited RING E3 ubiquitin ligase. (PMID: 26151332) Taherbhoy AM … Cochran AG (Nature communications 2015) 3 4 54
  3. 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 54
  4. Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus. (PMID: 19636380) Maertens GN … Peters G (PloS one 2009) 3 4 54
  5. Physical and functional association of a trimethyl H3K4 demethylase and Ring6a/MBLR, a polycomb-like protein. (PMID: 17320162) Lee MG … Shiekhattar R (Cell 2007) 3 4 54

Products for PCGF6 Gene

Sources for PCGF6 Gene