Pr/set domain 15

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

PRDM15
Identifiers
Aliases	PRDM15, C21orf83, PFM15, ZNF298, PR domain 15, PR/SET domain 15
External IDs	OMIM: 617692 MGI: 1930121 HomoloGene: 56941 GeneCards: PRDM15
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 41,798,225 bp[1] End 41,879,482 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 C4 Start 97,592,667 bp[2] End 97,653,050 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve bone marrow cells lymph node thymus tibialis anterior muscle gastrocnemius muscle thymus stromal cell of endometrium appendix bronchial epithelial cell Top expressed in superior cervical ganglion hand cumulus cell otolith organ lacrimal gland utricle blood ganglionic eminence thymus urethra More reference expression data BioGPS 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 Species Human Mouse Entrez 63977 114604 Ensembl ENSG00000141956 ENSMUSG00000014039 UniProt P57071 E9Q8T2 RefSeq (mRNA) NM_001040424 NM_001282934 NM_022115 NM_144789 NM_001359077 NM_001359078 RefSeq (protein) 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 Location (UCSC) Chr 21: 41.8 – 41.88 Mb Chr 16: 97.59 – 97.65 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]