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

Gene ID: 84108, updated on 1-Jun-2020

Summary

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
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

Genomic context

See PCGF6 in Genome Data Viewer
Location:
10q24.33
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (103302796..103351140, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105062553..105110891, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribulose-5-phosphate-3-epimerase like 1 Neighboring gene internexin neuronal intermediate filament protein alpha Neighboring gene RNA, U11 small nuclear 3, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5935 Neighboring gene TATA-box binding protein associated factor 5 Neighboring gene ATP synthase membrane subunit DAPIT Neighboring gene microRNA 1307

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC15678, MGC17541

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
histone H2A-K119 monoubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H2A-K119 monoubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
inactivation of X chromosome by genetic imprinting IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of G0 to G1 transition TAS
Traceable Author Statement
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
PRC1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PRC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
PcG protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PcG protein complex IDA
Inferred from Direct Assay
more info
PubMed 
PcG protein complex TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
polycomb group RING finger protein 6
Names
Mel18 and Bmi1-like RING finger protein
ring finger protein 134

NCBI Reference Sequences (RefSeq)

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_001011663.2NP_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
    Q9BYE7
    Related
    ENSP00000358862.3, ENST00000369847.4
    Conserved Domains (2) summary
    pfam00097
    Location:134172
    zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
    pfam16207
    Location:270319
    RAWUL; RAWUL domain RING finger- and WD40-associated ubiquitin-like
  2. NM_032154.4NP_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:134172
    zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
    pfam16207
    Location:195244
    RAWUL; RAWUL domain RING finger- and WD40-associated ubiquitin-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_001747230.1 RNA Sequence

  2. XR_001747229.1 RNA Sequence

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