InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRDM16

Summary

InnateDB Protein

IDBP-86553.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PRDM16

Protein Name

PR domain containing 16

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000367643

InnateDB Gene

IDBG-86547 (PRDM16)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:12816872, ECO:0000269PubMed:14656887, ECO:0000269PubMed:19049980}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:19049980}.

Disease Associations

Left ventricular non-compaction 8 (LVNC8) [MIM:615373]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. {ECO:0000269PubMed:23768516}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1LL (CMD1LL) [MIM:615373]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:23768516}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.

Tissue Specificity

Expressed in uterus and kidney. Expressed in both cardiomyocytes and interstitial cells. {ECO:0000269PubMed:11050005, ECO:0000269PubMed:12816872, ECO:0000269PubMed:23768516}.

Comments

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:0046872	metal ion binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006351	transcription, DNA-templated
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030853	negative regulation of granulocyte differentiation
GO:0043457	regulation of cellular respiration
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0050873	brown fat cell differentiation