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]
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.
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.
Contains 1 SET domain.
SWISS:
Q9HAZ2
Gene ID:
63976
Database links:
Entrez Gene: 63976 Human
Entrez Gene: 70673 Mouse
Entrez Gene: 100366024 Rat
Omim: 605557 Human
SwissProt: Q9HAZ2 Human
SwissProt: A2A935 Mouse
Unigene: 99500 Human
Unigene: 257785 Mouse
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