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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
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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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