Entity Details

Primary name PRD16_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9HAZ2
EntryNamePRD16_HUMAN
FullNameHistone-lysine N-methyltransferase PRDM16
TaxID9606
Evidenceevidence at protein level
Length1276
SequenceStatuscomplete
DateCreated2001-11-16
DateModified2021-06-02

Ontological Relatives

GenesPRDM16

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003712 transcription coregulator activity
GO:0003713 transcription coactivator activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0016235 aggresome
GO:0017053 transcription repressor complex
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:0043565 sequence-specific DNA binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046872 metal ion binding
GO:0046974 histone methyltransferase activity (H3-K9 specific)
GO:0050873 brown fat cell differentiation
GO:0070828 heterochromatin organization
GO:0120162 positive regulation of cold-induced thermogenesis

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001214 SET domainDomainDomain
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily
IPR044410 PRDM16, PR/SET domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615373 OMIMLeft ventricular non-compaction 8 (LVNC8)A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition. The disease is caused by variants affecting the gene represented in this entry.
615373 OMIMLeft ventricular non-compaction 8 (LVNC8)A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition. The disease is caused by variants affecting the gene represented in this entry.