PR domain zinc finger protein

n-modifying enzymes including histone deacetylases and methyltransferases. Drives the maturation of B-lymphocytes into Ig secreting cells. Interacts with PRMT5. Expression of Blimp-1 is sufficient to drive terminal differentiation of BCL1 lymphoma cells into antibody secreting plasma cells, increasing the expression of the cell surface marker Syndecan-1. In the B-cell lineage, Blimp-1 is specifically expressed in antibody-secreting cells including activated B and plasma cells. In addition, Blimp-1 has been found during macrophage differentiation and in a subset of T-cells suggesting that it may play a wider role in homeostasis and differentiation. Target genes of Blimp-1 transcriptional repression with potential roles in differentiation include c-Myc, CIITA, Pax5, Spi-B, and Id3.Three isoforms of the human protein are produced by alternative splicing.

Protein type: C2H2-type zinc finger protein; DNA-binding; Methyltransferase, protein lysine, predicted; Transcription regulation; Transcription, coactivator/corepressor

Cellular Component: cytoplasm; nucleus

Molecular Function: histone deacetylase binding; protein binding; sequence-specific DNA binding

Biological Process: artery morphogenesis; cell fate commitment; embryonic placenta development; eye photoreceptor cell development; germ cell development; in utero embryonic development; maternal placenta development; morphogenesis of a branching structure; negative regulation of B cell proliferation; negative regulation of lipopolysaccharide-mediated signaling pathway; negative regulation of transcription from RNA polymerase II promoter; positive regulation of B cell differentiation; post-embryonic development; regulation of cell proliferation; regulation of extrathymic T cell differentiation; regulation of natural killer cell differentiation; regulation of NK T cell differentiation

enesis; positive regulation of histone H3-K9 methylation; sensory perception of pain

odification. Interacts directly with the polycomb repressive complex 2 (PRC2). PRC2 is detected at PRDM14-bound loci in human ESCs. A probable transcriptional regulator of the krueppel C2H2-type zinc-finger protein family. Has both positive and negative roles on transcription. Required for the maintenance of emryonic stem cell identity and the reacquisition of pluripotency in somatic cells. May play an essential role in germ cell development at 2 levels: the reacquisition of potential pluripotency, including SOX2 up-regulation, and successful epigenetic reprogramming. Directly up-regulates the expression of pluripotency gene POU5F1 through its proximal enhancer. Binds to the DNA consensus sequence 5'-GGTC[TC]CTAA-3'.

Protein type: C2H2-type zinc finger protein; Methyltransferase, protein arginine, predicted

Cellular Component: nucleus

Molecular Function: chromatin DNA binding; protein binding; RNA binding

Biological Process: cell fate specification; cell morphogenesis; embryo implantation; fertilization; germ cell development; germ-line stem cell maintenance; homeostasis of number of cells within a tissue; inner cell mass cell fate commitment; negative regulation of fibroblast growth factor receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; regulation of gene expression; regulation of gene expression, epigenetic; stem cell maintenance

sors into brown adipose cells. Interacts with HDAC1, SKI, SMAD2 and SMAD3; the interaction with SKI promotes the recruitment of SMAD3-HDAC1 complex on the promoter of TGF-beta target genes. A chromosomal aberration involving PRDM16 is found in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Reciprocal translocation t(1;3)(p36;q21). Isoform 4 is specifically expressed in adult T-cell leukemia. Four human isoforms are produced by alternative promoter usage and alternative splicing

Protein type: C2H2-type zinc finger protein; Methyltransferase, protein lysine, predicted

Cellular Component: nucleus; transcriptional repressor complex

Molecular Function: protein binding; sequence-specific DNA binding; SMAD binding; transcription activator binding; transcription coactivator activity

Biological Process: brown fat cell differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of transforming growth factor beta receptor signaling pathway; neurogenesis; palate development; positive regulation of transcription, DNA-dependent; regulation of cellular respiration; somatic stem cell maintenance; stem cell maintenance; tongue development; white fat cell differentiation

e human protein are produced by alternative splicing.

Protein type: C2H2-type zinc finger protein; DNA-binding; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine; Nuclear receptor co-regulator; Transcription factor

Chromosomal Location of Human Ortholog: 1p36.21

Cellular Component: nucleus

nvolved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion, including EDIL3 and TGFB2. May caused G2/M arrest and apoptosis in cancer cells. Defects in PRDM5 are the cause of Brittle cornea syndrome type 2 (BCS2). A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: C2H2-type zinc finger protein; DNA-binding; Methyltransferase, protein lysine, predicted; Transcription factor

Chromosomal Location of Human Ortholog: 4q25-q26

Cellular Component: nucleus

Molecular Function: protein binding; sequence-specific DNA binding

Biological Process: histone deacetylation; histone H3-K9 methylation; mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent

Disease: Brittle Cornea Syndrome 2

ction: protein binding

Biological Process: oligodendrocyte development

Disease: Epilepsy, Progressive Myoclonic, 10