Search
PR domain zinc finger protein 16; PR domain-containing protein 16; transcription factor MEL1; MDS1/EVI1-like gene 1 (PRDM16, KIAA1675, MEL1, PFM13)
Function:
- binds DNA & functions as a transcriptional regulator
- role in differentiation of brown adipose tissue
- together with CEBPB, regulates differentiation of myoblastic precursors into brown adipose cells.
- repressor of TGF-beta signaling
- isoform 4 may regulate granulocyte differentiation
- interacts with CEBPA, CEBPB & CEBPD
- interaction with PPARG & PPARA controls brown adipocyte differentiation
- interaction with CTBP1 & CTBP2 represses expression of WAT-specific genes
- interaction with PPARGC1A or PPARGC1B activates transcription of BAT-specific genes
- interacts with SMAD3
- interacts with HDAC1, SKI, SMAD2 & SMAD3
- interaction with SKI promotes the recruitment of SMAD3-HDAC1 complex on the promoter of TGF-beta target genes
Structure:
- contains 10 C2H2-type Zn+2 fingers
- contains 1 SET domain
Compartment: nucleus
Alternative splicing:
Alternative promoter usage: named isoforms=4
Expression: expressed in uterus & kidney
Pathology:
- chromosomal translocation t(1;3)(p36;q21) involving PRDM16 is found in myelodysplastic syndrome (MDS) & acute myeloid leukemia (AML)
- isoform 4 is specifically expressed in adult T-cell leukemia
General
C2H2 type zinc finger protein
nuclear protein
Properties
SIZE: entity length = 1276 aa
MW = 140 kD
COMPARTMENT: cell nucleus
MOTIF: SET domain {83-215}
Zn finger C2H2-type
SITE: 230-253
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 281-303
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 309-331
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 337-360
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 366-388
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 394-416
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 423-445
EFFECTOR-BOUND: Zn+2
proline-rich region
SITE: 459-557
MOTIF: proline residue (SEVERAL)
CTBP1/CTBP2 interaction {679-1038}
Mediates interaction with SKI & regulation of TGF-beta signaling {739-1276}
MOTIF: Zn finger C2H2-type
SITE: 951-973
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 979-1002
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 1008-1032
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM 605557
UniProt Q9HAZ2
Pfam PF00096
Entrez Gene 63976
Kegg hsa:63976
References
- UniProt :accession Q9HAZ2
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/PRDM16MEL1ID408.html