Homo sapiens Gene: PRDM16
Summary
InnateDB Gene IDBG-86547.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRDM16
Gene Name PR domain containing 16
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000142611
Encoded Proteins
PR domain containing 16
PR domain containing 16
PR domain containing 16
PR domain containing 16
PR domain containing 16
PR domain containing 16
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:3069168-3438621
Strand Forward strand
Band p36.32
Transcripts
ENST00000270722 ENSP00000270722
ENST00000378391 ENSP00000367643
ENST00000378389
ENST00000511072 ENSP00000426975
ENST00000514189 ENSP00000421400
ENST00000512462
ENST00000463591 ENSP00000476002
ENST00000509860 ENSP00000425796
ENST00000607632
ENST00000606170
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0046332 SMAD binding
GO:0046872 metal ion binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0022008 neurogenesis
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030853 negative regulation of granulocyte differentiation
GO:0035019 somatic stem cell maintenance
GO:0043457 regulation of cellular respiration
GO:0043586 tongue development
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0050872 white fat cell differentiation
GO:0050873 brown fat cell differentiation
GO:0060021 palate development
Cellular Component
GO:0005634 nucleus
GO:0017053 transcriptional repressor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL D6RDW0
UniProt Splice Variant
Entrez Gene 63976
UniGene Hs.99500
RefSeq NM_022114 NM_199454 XM_006710814 XM_005244772 XM_005244773
HUGO HGNC:14000
OMIM 605557
CCDS CCDS41236 CCDS44048
HPRD 16122
IMGT
EMBL AL008733 AL354743 AL512383 AL590438
GenPept
RNA Seq Atlas 63976