PRDM15

PRDM15
Identifiers
Aliases	PRDM15, C21orf83, PFM15, ZNF298, PR domain 15, PR/SET domain 15
External IDs	OMIM: 617692; MGI: 1930121; HomoloGene: 56941; GeneCards: PRDM15; OMA:PRDM15 - orthologs
Gene location (Human)
Chr.	Chromosome 21 (human)
End	41,879,482 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	97,653,050 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; mucosa of ileum; ; gonad; ; granulocyte; ; bone marrow cells; ; lymph node; ; testicle; ; tonsil; ; tendon of biceps brachii; ; tibialis anterior muscle;
	Top expressed in
	superior cervical ganglion; ; hand; ; tail of embryo; ; cumulus cell; ; genital tubercle; ; lobe of prostate; ; otolith organ; ; granulocyte; ; lacrimal gland; ; utricle;
	More reference expression data
	n/a
Gene ontology
Molecular function	methyltransferase activity; transferase activity; DNA binding; metal ion binding; nucleic acid binding; DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; promoter-specific chromatin binding;
Cellular component	nucleus; nucleoplasm; nuclear body;
Biological process	methylation; transcription, DNA-templated; regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II; negative regulation of MAPK cascade; positive regulation of transcription by RNA polymerase II; positive regulation of canonical Wnt signaling pathway; regulation of stem cell division; multicellular organism development;
	Sources:Amigo / QuickGO
Orthologs
	63977
	114604
	ENSG00000141956
	ENSMUSG00000014039
	P57071
	E9Q8T2
	NM_001040424; NM_001282934; NM_022115
	NM_144789; NM_001359077; NM_001359078
	NP_001035514; NP_001269863; NP_071398
NP_001346006; NP_001346007; NP_659038; NP_001390355; NP_001390356;
	NP_001390357; NP_001390358; NP_001390359; NP_001390360; NP_001390361; NP_001390366; NP_001390367
	Wikidata
View/Edit Human	View/Edit Mouse

PR/SET domain 15 is a protein that in humans is encoded by the PRDM15 gene.^[5]

PRDM15 safeguards naive pluripotency by transcriptionally regulating WNT and MAPK-ERK signaling.^[6]

PRDM15 modulates WNT and MAPK/ERK signaling by directly promoting the expression of Rspo1 (R-spondin1) and Spry1 (Sprouty1). Mzoughi et al., have shown that PRDM15 binds to the promoter region of both genes, inducing changes in the local chromatin to promote their transcription. In a second report, the same team has identified a loss-of-function mutation in patients with holoprosencephaly and microcephaly. They used mouse models and embryonic stem cells to uncover an unexpected link between Notch and WNT/PCP signaling and early embryo patterning. Both pathways are deregulated in PRDM15 mutants, leading to patterning defects and a spectrum of anterior brain malformations.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000141956 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000014039 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: PR/SET domain 15". Retrieved 2018-07-24.
^ Mzoughi S, Zhang J, Hequet D, Teo SX, Fang H, Xing QR, et al. (September 2017). "PRDM15 safeguards naive pluripotency by transcriptionally regulating WNT and MAPK-ERK signaling". Nature Genetics. 49 (9): 1354–1363. doi:10.1038/ng.3922. PMID 28740264. S2CID 205355109.
^ Mzoughi S, Di Tullio F, Low DH, Motofeanu CM, Ong SL, Wollmann H, et al. (2020). "PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly". Science Advances. 6 (2): eaax9852. Bibcode:2020SciA....6.9852M. doi:10.1126/sciadv.aax9852. PMC 6954057. PMID 31950080.

This article on a gene on human chromosome 21 is a stub. You can help Wikipedia by expanding it.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000141956 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000014039 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: PR/SET domain 15". Retrieved 2018-07-24.

[pmid28740264-6] Mzoughi S, Zhang J, Hequet D, Teo SX, Fang H, Xing QR, et al. (September 2017). "PRDM15 safeguards naive pluripotency by transcriptionally regulating WNT and MAPK-ERK signaling". Nature Genetics. 49 (9): 1354–1363. doi:10.1038/ng.3922. PMID 28740264. S2CID 205355109.

[7] Mzoughi S, Di Tullio F, Low DH, Motofeanu CM, Ong SL, Wollmann H, et al. (2020). "PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly". Science Advances. 6 (2): eaax9852. Bibcode:2020SciA....6.9852M. doi:10.1126/sciadv.aax9852. PMC 6954057. PMID 31950080.

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See also

References