PCGF1 polycomb group ring finger 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PCGF1provided by HGNC
Official Full Name: polycomb group ring finger 1provided by HGNC
Primary source: HGNC:HGNC:17615
See related: Ensembl:ENSG00000115289 MIM:610231; AllianceGenome:HGNC:17615
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NSPC1; RNF68; RNF3A-2; 2010002K04Rik
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 3.8), testis (RPKM 3.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (74505043..74507695, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (74513608..74522718, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (74732170..74734822, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Balanced Epigenetic Regulation of MHC Class I Expression in Tumor Cells by the Histone Ubiquitin Modifiers BAP1 and PCGF1.
Title: Balanced Epigenetic Regulation of MHC Class I Expression in Tumor Cells by the Histone Ubiquitin Modifiers BAP1 and PCGF1.
MORC4 plays a tumor-promoting role in colorectal cancer via regulating PCGF1/CDKN1A axis in vitro and in vivo.
Title: MORC4 plays a tumor-promoting role in colorectal cancer via regulating PCGF1/CDKN1A axis in vitro and in vivo.
Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia.
Title: Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia.
PCGF1 promotes epigenetic activation of stemness markers and colorectal cancer stem cell enrichment.
Title: PCGF1 promotes epigenetic activation of stemness markers and colorectal cancer stem cell enrichment.
Structure and Role of BCOR PUFD in Noncanonical PRC1 Assembly and Disease.
Title: Structure and Role of BCOR PUFD in Noncanonical PRC1 Assembly and Disease.
The results of the present study demonstrated that miR320a inhibition decreased insulininduced KGN cell proliferation and apoptosis by targeting PCGF1.
Title: MicroRNA‑320a inhibition decreases insulin‑induced KGN cell proliferation and apoptosis by targeting PCGF1.
these results demonstrate that NSPc1 promotes cancer stem cell self-renewal by repressing the synthesis of all-trans retinoic acid via targeting RDH16 and may provide novel targets for glioma treatment in the future.
Title: NSPc1 promotes cancer stem cell self-renewal by repressing the synthesis of all-trans retinoic acid via targeting RDH16 in malignant glioma.
knockdown of PCGF1 results in reduced expression of DPPA4 and other subunits of the variant PRC1 complex at both mRNA and protein levels. Thus, PCGF1 represents a physical and functional link between Polycomb function and pluripotency
Title: The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis.
polycomb has a role in stem cell fate and development of cancer (review)
Title: Stem cells and cancer; the polycomb connection.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of polycomb group ring finger 1 (PCGF1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99023 (e-PCR)
- UniSTS:90654

RH80457 (e-PCR)
- UniSTS:83743

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables promoter-specific chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of PRC1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of PcG protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay 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 1

Names: RING finger protein 68; nervous system Polycomb-1

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)

NM_032673.3 → NP_116062.2 polycomb group RING finger protein 1

See identical proteins and their annotated locations for NP_116062.2

Status: VALIDATED

Source sequence(s)

AC005041, BC004952, BU602498

Consensus CDS

CCDS1946.2

UniProtKB/Swiss-Prot

Q7Z506, Q9BSM1

Related

ENSP00000233630.6, ENST00000233630.11

Conserved Domains (2) summary

cd16733
Location:44 → 86

RING-HC_PCGF1; RING finger, HC subclass, found in polycomb group RING finger protein 1 (PCGF1) and similar proteins

cd17081
Location:166 → 253

RAWUL_PCGF1; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in polycomb group RING finger protein 1 (PCGF1) and similar proteins