UniProt functional annotation for Q9BZ95



	UniProt functional annotation for Q9BZ95

UniProt code: Q9BZ95.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Histone methyltransferase. Preferentially dimethylates 'Lys- 4' and 'Lys-27' of histone H3 forming H3K2me2 and H3K27me2. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression. {ECO:0000269|PubMed:16682010}.

Catalytic activity: Reaction=L-lysyl(4)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + 2 S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:64448, Rhea:RHEA-COMP:15540, Rhea:RHEA- COMP:15547, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61976; EC=2.1.1.370; Evidence={ECO:0000269|PubMed:16682010};

Catalytic activity: Reaction=L-lysyl(27)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(27)-[histone H3] + 2 S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:64452, Rhea:RHEA-COMP:15539, Rhea:RHEA- COMP:15548, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61976; EC=2.1.1.371; Evidence={ECO:0000269|PubMed:16682010};

Subunit: Interacts with BRD4. {ECO:0000269|PubMed:21555454, ECO:0000269|PubMed:29176719}.

Subcellular location: Nucleus {ECO:0000250}. Chromosome {ECO:0000250}.

Tissue specificity: Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and lung. {ECO:0000269|PubMed:11374904}.

Disease: Note=Defects in NSD3 may be involved in non small cell lung carcinomas (NSCLC). Amplified or overexpressed in NSCLC. {ECO:0000269|PubMed:15983384}.

Disease: Note=A chromosomal aberration involving NSD3 is found in childhood acute myeloid leukemia. Translocation t(8;11)(p11.2;p15) with NUP98. {ECO:0000269|PubMed:11986249}.

Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily. {ECO:0000255|PROSITE-ProRule:PRU00190}.

Sequence caution: Sequence=AAG44637.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAI07735.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91110.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Histone methyltransferase. Preferentially dimethylates 'Lys- 4' and 'Lys-27' of histone H3 forming H3K2me2 and H3K27me2. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression. {ECO:0000269\|PubMed:16682010}.


Catalytic activity:		Reaction=L-lysyl(4)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + 2 S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:64448, Rhea:RHEA-COMP:15540, Rhea:RHEA- COMP:15547, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61976; EC=2.1.1.370; Evidence={ECO:0000269\|PubMed:16682010};
Catalytic activity:		Reaction=L-lysyl(27)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(27)-[histone H3] + 2 S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:64452, Rhea:RHEA-COMP:15539, Rhea:RHEA- COMP:15548, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61976; EC=2.1.1.371; Evidence={ECO:0000269\|PubMed:16682010};
Subunit:		Interacts with BRD4. {ECO:0000269\|PubMed:21555454, ECO:0000269\|PubMed:29176719}.
Subcellular location:		Nucleus {ECO:0000250}. Chromosome {ECO:0000250}.
Tissue specificity:		Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and lung. {ECO:0000269\|PubMed:11374904}.
Disease:		Note=Defects in NSD3 may be involved in non small cell lung carcinomas (NSCLC). Amplified or overexpressed in NSCLC. {ECO:0000269\|PubMed:15983384}.
Disease:		Note=A chromosomal aberration involving NSD3 is found in childhood acute myeloid leukemia. Translocation t(8;11)(p11.2;p15) with NUP98. {ECO:0000269\|PubMed:11986249}.
Similarity:		Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily. {ECO:0000255\|PROSITE-ProRule:PRU00190}.
Sequence caution:		Sequence=AAG44637.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAI07735.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91110.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};