Description: Homo sapiens PR/SET domain 16 (PRDM16), transcript variant 2, mRNA. (from RefSeq NM_199454) RefSeq Summary (NM_199454): The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000378391.6 Gencode Gene: ENSG00000142611.17 Transcript (Including UTRs) Position: hg38 chr1:3,069,197-3,435,421 Size: 366,225 Total Exon Count: 17 Strand: + Coding Region Position: hg38 chr1:3,069,260-3,433,811 Size: 364,552 Coding Exon Count: 17
ID:PRD16_HUMAN DESCRIPTION: RecName: Full=PR domain zinc finger protein 16; AltName: Full=PR domain-containing protein 16; AltName: Full=Transcription factor MEL1; Short=MDS1/EVI1-like gene 1; FUNCTION: Binds DNA and functions as a transcriptional regulator. Functions in the differentiation of brown adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control of systemic metabolism. Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells. Functions also as a repressor of TGF-beta signaling. Isoform 4 may regulate granulocytes differentiation. SUBUNIT: Interacts with CEBPA, CEBPB and CEBPD; the interaction is direct. Interacts with PPARG and PPARA; controls brown adipocytes differentiation. Interacts with CTBP1 and CTBP2; represses the expression of WAT-specific genes. Interacts with PPARGC1A and PPARGC1B; interaction with PPARGC1A or PPARGC1B activates the transcription of BAT-specific gene. Interacts with SMAD3 (By similarity). 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. INTERACTION: P56546:Ctbp2 (xeno); NbExp=2; IntAct=EBI-4566658, EBI-1384883; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in uterus and kidney. DISEASE: Note=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. SIMILARITY: Contains 10 C2H2-type zinc fingers. SIMILARITY: Contains 1 SET domain. SEQUENCE CAUTION: Sequence=BAB21766.2; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PRDM16MEL1ID408.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9HAZ2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.