EZH inhibitory protein
| EZHIP | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | EZHIP, chromosome X open reading frame 67, CXorf67, EZH inhibitory protein, KIP75, CATACOMB | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | GeneCards: EZHIP | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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EZH inhibitory protein is a protein that in humans is encoded by the gene EZHIP (previously CXorf67).[3][4] As its name suggests, EZH inhibitory protein functions to inhibit methyltransferase activity of the enzymes EZH1 and EZH2.[5] By extension, this inhibits the function of the PRC2-EZH1 and PRC2-EZH2 complexes, leading to a reduction in the Trimethylation of H3 lysine 27.[5]
Expression
Expression of EZHIP in humans is generally low in all tissues. Higher RNA expression has been reported in the testis and placenta and relatively higher nuclear protein expression has been observed in the placenta, testis and ovarian follicles.[6]
Interactions
Protein interaction of EZHIP with UBC (polyubiquitin-C) in humans was identified using a two-hybrid screening.[7]
Associations with disease
The fusion of EZHIP with the MBTD1 gene has been linked to low-grade endometrial stromal sarcoma in humans.[8]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000187690 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "CXorf67 chromosome X open reading frame 67 [ Homo sapiens (human) ]". NCBI-National Center for Biotechnology Information.
- ↑ "Chromosome X Open Reading Frame 67". GeneCards-The Human Gene Compendium.
- 1 2 "Q86X51 · EZHIP_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-07-31.
- ↑ "CXorf67". The Human Protein Atlas.
- ↑ Danielsen JM, Sylvestersen KB, Bekker-Jensen S, Szklarczyk D, Poulsen JW, Horn H, Jensen LJ, Mailand N, Nielsen ML (Mar 2011). "Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level". Molecular & Cellular Proteomics. 10 (3) M110.003590. doi:10.1074/mcp.M110.003590. PMC 3047152. PMID 21139048.
- ↑ Dewaele B, Przybyl J, Quattrone A, Finalet Ferreiro J, Vanspauwen V, Geerdens E, Gianfelici V, Kalender Z, Wozniak A, Moerman P, Sciot R, Croce S, Amant F, Vandenberghe P, Cools J, Debiec-Rychter M (Mar 2014). "Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma". International Journal of Cancer. 134 (5): 1112–1122. doi:10.1002/ijc.28440. PMID 23959973. S2CID 32810334.
External links
- Human CXorf67 genome location and CXorf67 gene details page in the UCSC Genome Browser.