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    PCGF6 polycomb group ring finger 6 [ Homo sapiens (human) ]

    Gene ID: 84108, updated on 3-Apr-2024

    Summary

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    Official Symbol
    PCGF6provided by HGNC
    Official Full Name
    polycomb group ring finger 6provided by HGNC
    Primary source
    HGNC:HGNC:21156
    See related
    Ensembl:ENSG00000156374 MIM:607816; AllianceGenome:HGNC:21156
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MBLR; RNF134
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 6.3), fat (RPKM 4.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q24.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (103302796..103351140, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (104190415..104238442, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105062553..105110897, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105014513-105015012 Neighboring gene ribulose-5-phosphate-3-epimerase like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105037310-105037914 Neighboring gene internexin neuronal intermediate filament protein alpha Neighboring gene RNA, U11 small nuclear 3, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105110125-105110630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2778 Neighboring gene NANOG hESC enhancer GRCh37_chr10:105114252-105114806 Neighboring gene Sharpr-MPRA regulatory region 5935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3957 Neighboring gene TATA-box binding protein associated factor 5 Neighboring gene ATP synthase membrane subunit k Neighboring gene microRNA 1307

    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. Polycomb Group Protein Pcgf6 Acts as a Master Regulator to Maintain Embryonic Stem Cell Identity. Yang CS, et al. Sci Rep, 2016 Jun 1. PMID 27247273, Free PMC Article
    2. Mel-18 negatively regulates INK4a/ARF-independent cell cycle progression via Akt inactivation in breast cancer. Lee JY, et al. Cancer Res, 2008 Jun 1. PMID 18519679
    3. Physical and functional association of a trimethyl H3K4 demethylase and Ring6a/MBLR, a polycomb-like protein. Lee MG, et al. Cell, 2007 Mar 9. PMID 17320162
    4. mel-18, a Polycomb group-related mammalian gene, encodes a transcriptional negative regulator with tumor suppressive activity. Kanno M, et al. EMBO J, 1995 Nov 15. PMID 8521824, Free PMC Article
    5. MEL-18 interacts with HSF2 and the SUMO E2 UBC9 to inhibit HSF2 sumoylation. Zhang J, et al. J Biol Chem, 2008 Mar 21. PMID 18211895, Free PMC Article

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PCGF6 controls neuroectoderm specification of human pluripotent stem cells by activating SOX2 expression.
      Title: PCGF6 controls neuroectoderm specification of human pluripotent stem cells by activating SOX2 expression.
    2. Pcgf6 acts as a master regulator to maintain embryonic stem cell identity.
      Title: Polycomb Group Protein Pcgf6 Acts as a Master Regulator to Maintain Embryonic Stem Cell Identity.
    3. Mel-18 overexpression showed reduced glycogen synthase kinase-3beta phosphorylation, beta-catenin nuclear localization, T-cell factor/lymphoid enhancer factor promoter activity, and cyclin D1 mRNA level
      Title: Mel-18 negatively regulates INK4a/ARF-independent cell cycle progression via Akt inactivation in breast cancer.
    4. MEL-18 bound to HSF2 inhibits its sumoylation by binding to and inhibiting the activity of UBC9 enzymes in the vicinity of HSF2.
      Title: MEL-18 interacts with HSF2 and the SUMO E2 UBC9 to inhibit HSF2 sumoylation.
    5. regulation by cell cycle-dependent phosphorylation
      Title: MBLR, a new RING finger protein resembling mammalian Polycomb gene products, is regulated by cell cycle-dependent phosphorylation.
    6. Thus, we did not find evidence for uniquely interacting partner proteins using this approach, but did identify four new lamin A/C interactive partners
      Title: Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C.
    7. Study shows that JARID1d and MBLR occupy human Engrailed 2 gene and regulate its expression and histone H3 lysine 4 methylation levels.
      Title: Physical and functional association of a trimethyl H3K4 demethylase and Ring6a/MBLR, a polycomb-like protein.
    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    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

    • MGC15678, MGC17541

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of PRC1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of PRC1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of PcG protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    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 6
    Names
    Mel18 and Bmi1-like RING finger protein
    ring finger protein 134

    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_001011663.2 → NP_001011663.1  polycomb group RING finger protein 6 isoform a

      See identical proteins and their annotated locations for NP_001011663.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AL591408, BC007602, BC010235
      Consensus CDS
      CCDS31275.1
      UniProtKB/Swiss-Prot
      A8K3R4, Q5SYD1, Q5SYD6, Q96ID9, Q96SJ1, Q9BYE7
      Related
      ENSP00000358862.3, ENST00000369847.4
      Conserved Domains (2) summary
      pfam00097
      Location:134 → 172
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam16207
      Location:270 → 319
      RAWUL; RAWUL domain RING finger- and WD40-associated ubiquitin-like

    2. NM_032154.4 → NP_115530.2  polycomb group RING finger protein 6 isoform b

      See identical proteins and their annotated locations for NP_115530.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.
      Source sequence(s)
      AL591408, BC007602, BC010235
      Consensus CDS
      CCDS7546.1
      UniProtKB/Swiss-Prot
      Q9BYE7
      Related
      ENSP00000338845.4, ENST00000337211.8
      Conserved Domains (2) summary
      pfam00097
      Location:134 → 172
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam16207
      Location:195 → 244
      RAWUL; RAWUL domain RING finger- and WD40-associated ubiquitin-like

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      103302796..103351140 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425832.1 → XP_047281788.1  polycomb group RING finger protein 6 isoform X1

    2. XM_047425834.1 → XP_047281790.1  polycomb group RING finger protein 6 isoform X3

    3. XM_047425833.1 → XP_047281789.1  polycomb group RING finger protein 6 isoform X2

      Related
      ENSP00000497672.1, ENST00000647574.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      104190415..104238442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366906.1 → XP_054222881.1  polycomb group RING finger protein 6 isoform X1

    2. XM_054366908.1 → XP_054222883.1  polycomb group RING finger protein 6 isoform X3

    3. XM_054366907.1 → XP_054222882.1  polycomb group RING finger protein 6 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYE7.2 GenPept UniProtKB/Swiss-Prot:Q9BYE7

    Gene LinkOut

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