EZHIP EZH inhibitory protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: EZHIPprovided by HGNC
Official Full Name: EZH inhibitory proteinprovided by HGNC
Primary source: HGNC:HGNC:33738
See related: Ensembl:ENSG00000187690 MIM:301036; AllianceGenome:HGNC:33738
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: KIP75; CXorf67; CATACOMB
Summary: Involved in negative regulation of histone H3-K27 methylation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: Xp11.22

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (51406948..51408843)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (50678233..50680128)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (51149800..51151695)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[The value of CXorf67 and H3K27me3 for diagnosing germ cell tumors in central nervous system].
Title: [The value of CXorf67 and H3K27me3 for diagnosing germ cell tumors in central nervous system].
EZHIP is a specific diagnostic biomarker for posterior fossa ependymomas, group PFA and diffuse midline gliomas H3-WT with EZHIP overexpression.
Title: EZHIP is a specific diagnostic biomarker for posterior fossa ependymomas, group PFA and diffuse midline gliomas H3-WT with EZHIP overexpression.
EZH2 inhibitory protein (EZHIP/Cxorf67) expression correlates strongly with H3K27me3 loss in posterior fossa ependymomas and is mutually exclusive with H3K27M mutations.
Title: EZH2 inhibitory protein (EZHIP/Cxorf67) expression correlates strongly with H3K27me3 loss in posterior fossa ependymomas and is mutually exclusive with H3K27M mutations.
Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation.
Title: Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation.
Elevated CXorf67 Expression in PFA Ependymomas Suppresses DNA Repair and Sensitizes to PARP Inhibitors.
Title: Elevated CXorf67 Expression in PFA Ependymomas Suppresses DNA Repair and Sensitizes to PARP Inhibitors.
High EZHIP expression is associated with posterior fossa ependymoma.
Title: EZHIP/CXorf67 mimics K27M mutated oncohistones and functions as an intrinsic inhibitor of PRC2 function in aggressive posterior fossa ependymoma.
CATACOMB as the potential interlocutor between DNA methylation and PRC2 activity.
Title: CATACOMB: An endogenous inducible gene that antagonizes H3K27 methylation activity of Polycomb repressive complex 2 via an H3K27M-like mechanism.
Study reports the identification of a cofactor of PRC2, EZHIP (EZH1/2 Inhibitory Protein), expressed predominantly in the gonads. EZHIP limits the enzymatic activity of PRC2 and lessens the interaction between the core complex and its accessory subunits but does not interfere with PRC2 recruitment to chromatin. Study uncovers EZHIP as a regulator of chromatin landscape in gametes.
Title: EZHIP constrains Polycomb Repressive Complex 2 activity in germ cells.
The data of this study suggested that heterogeneity among PFA ependymomas could have clinicopathologic utility and that CXorf67 may have a functional role in these tumors.
Title: Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas.
Study revealed that CXORF67 contains a highly conserved "K27M-like" sequence that is necessary and sufficient to inhibit PRC2 activity and reduce cellular H3K27me3 levels. Biochemical and cell-based studies demonstrate that CXORF67 functions as a K27M-like peptidyl inhibitor of PRC2. Therefore, study propose the name EZHIP (Enhancer of Zeste Homologs Inhibitory Protein) as a more descriptive for the function of CXORF67.
Title: PFA ependymoma-associated protein EZHIP inhibits PRC2 activity through a H3 K27M-like mechanism.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone methyltransferase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin organization	IDA Inferred from Direct Assay more info	PubMed
involved_in epigenetic regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: EZH inhibitory protein

Names: K27M-like inhibitor of PRC2; catalytic antagonist of Polycomb; uncharacterized protein CXorf67

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.