InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-86551

PR domain containing 16

IDBP-86553

PR domain containing 16

IDBP-483255

PR domain containing 16

IDBP-481268

PR domain containing 16

IDBP-810473

PR domain containing 16

IDBP-483298

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

ENSMUSG00000039410

View Gene Order

ENSBTAG00000018965

Not yet available

Cross-References

SwissProt

TrEMBL

U3KQL6

UniProt Splice Variant

Entrez Gene

63976

UniGene

RefSeq

NM_022114 NM_199454 XM_005244772 XM_005244773 XM_006710814

HUGO

HGNC:14000

OMIM

605557

CCDS

CCDS41236 CCDS44048

HPRD

IMGT

EMBL

AL008733 AL354743 AL512383 AL590438

GenPept

RNA Seq Atlas

63976