PRDM16 (PR domain containing 16)
2004-04-01 Jean-Loup Huret , Sylvie Senon AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
1p36.32
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
CMD1LL,KMT8F,LVNC8,MEL1,PFM13
FUSION GENES
DNA/RNA
Description
spans 369 kb; 17exons; 3827 bp coding sequence.
Transcription
alternative transcripts MEL1 and MEL1S (MEL1 short)
Proteins
Description
17O kDa (MEL1) and 150 Da (MEL1S); like MDS1/EVI1, The MEL1contains a PR domain (homologous to the SET domain present in MLL ) in the N term, two DNA binding domains (made of 7 and 3 zing fingers) separated by a repression domain, and an acidic domain at the C-term.
MEL1S lacks the PR domain, like EVI1 alone.
MEL1 and MEL1S, in a "yin-yang fashion", are hypothezised to display antagonistic properties; the PR domain may act as an inhibitor of tumorigenesis.
MEL1S lacks the PR domain, like EVI1 alone.
MEL1 and MEL1S, in a "yin-yang fashion", are hypothezised to display antagonistic properties; the PR domain may act as an inhibitor of tumorigenesis.
Expression
wide, contrarily to what was previously found
Localisation
nuclear
Homology
63% homology with MDS1/EVI1; both are members of the PR domain family
Implicated in
Entity name
t(1;3)(p36;q21) myeloid leukemias --> involving RPN1 and PRDM16
Disease
myelodysplastic syndromes (MDS), acute non lymphoblastic leukemias (AML), therapy-related leukemias and myeloprolifrative syndromes; with features similar to those of the 3q21q26 syndrome, including megakaryocytic dysplasia (see also 3q rearrangements in myeloid malignancies).
Prognosis
very poor
Hybrid gene
juxtaposition of the enhancer of the constitutively expressed housekeeping gene RPN1, normally sitting in 3q21, in 5 of MEL1 on der(1); both genes are orientated telomere to centromere; the same situation occurs between RPN1 in 5 of EVI1 in the t(3;3)(q21;q26) )
Oncogenesis
the translocation results in either an ectopic expression of MEL1 driven by RPN1or by disruption of its PR domain; this probable heterogenity may be associated with different clinical features. The short form, MEL1S, is mainly expressed
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 14712237 | 2004 | Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells. | Lahortiga I et al |
| 11050005 | 2000 | A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS1/EVI1 gene and is transcriptionally activated in t(1;3)(p36;q21)-positive leukemia cells. | Mochizuki N et al |
| 12816872 | 2003 | A novel EVI1 gene family, MEL1, lacking a PR domain (MEL1S) is expressed mainly in t(1;3)(p36;q21)-positive AML and blocks G-CSF-induced myeloid differentiation. | Nishikata I et al |
| 8986805 | 1996 | Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas. | Weterman MA et al |
| 12557231 | 2003 | Breakpoints at 1p36.3 in three MDS/AML(M4) patients with t(1;3)(p36;q21) occur in the first intron and in the 5' region of MEL1. | Xinh PT et al |
Other Information
Locus ID:
NCBI: 63976
MIM: 605557
HGNC: 14000
Ensembl: ENSG00000142611
Variants:
dbSNP: 63976
ClinVar: 63976
TCGA: ENSG00000142611
COSMIC: PRDM16
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| PKMTs methylate histone lysines | REACTOME | R-HSA-3214841 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38072665 | 2024 | Discovery of PRDM16-Mediated TRPA1 Induction as the Mechanism for Low Tubulo-Interstitial Fibrosis in Diabetic Kidney Disease. | 1 |
| 38072665 | 2024 | Discovery of PRDM16-Mediated TRPA1 Induction as the Mechanism for Low Tubulo-Interstitial Fibrosis in Diabetic Kidney Disease. | 1 |
| 36174906 | 2023 | Novel association of SNP rs2297828 in PRDM16 gene with predisposition to type 2 diabetes. | 1 |
| 36639264 | 2023 | The ALDH2, IGSF9, and PRDM16 Proteins as Predictive Biomarkers for Prognosis in Breast Cancer. | 1 |
| 37211698 | 2023 | Androgen Receptor is a Negative Regulator of PRDM16 in Beige Adipocyte. | 2 |
| 37395136 | 2023 | PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study. | 2 |
| 37574723 | 2023 | Distinct response of adipocyte progenitors to glucocorticoids determines visceral obesity via the TEAD1-miR-27b-PRDM16 axis. | 0 |
| 37602452 | 2023 | Long Noncoding RNA MAGI2-AS3 Represses Cell Progression in Clear Cell Renal Cell Carcinoma by Modulating the miR-629-5p/PRDM16 Axis. | 0 |
| 38113297 | 2023 | Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice. | 0 |
| 36174906 | 2023 | Novel association of SNP rs2297828 in PRDM16 gene with predisposition to type 2 diabetes. | 1 |
| 36639264 | 2023 | The ALDH2, IGSF9, and PRDM16 Proteins as Predictive Biomarkers for Prognosis in Breast Cancer. | 1 |
| 37211698 | 2023 | Androgen Receptor is a Negative Regulator of PRDM16 in Beige Adipocyte. | 2 |
| 37395136 | 2023 | PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study. | 2 |
| 37574723 | 2023 | Distinct response of adipocyte progenitors to glucocorticoids determines visceral obesity via the TEAD1-miR-27b-PRDM16 axis. | 0 |
| 37602452 | 2023 | Long Noncoding RNA MAGI2-AS3 Represses Cell Progression in Clear Cell Renal Cell Carcinoma by Modulating the miR-629-5p/PRDM16 Axis. | 0 |
Citation
Jean-Loup Huret ; Sylvie Senon
PRDM16 (PR domain containing 16)
Atlas Genet Cytogenet Oncol Haematol. 2004-04-01
Online version: http://atlasgeneticsoncology.org/gene/408/fpr1-(formyl-peptide-receptor-1)
