| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation. Probably forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Its activity is dependent on MBD1 and is heritably maintained through DNA replication by being recruited by CAF-1. SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factor recruited by KRAB zinc-finger proteins. CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. SUBUNIT: Interacts with MBD1; interaction is abolished when MBD1 is sumoylated. Interacts with ATF7IP and ATF7IP2; the interaction with ATF7IP is required to stimulate histone methyltransferase activity and facilitate the conversion of dimethylated to trimethylated H3 'Lys-9'. During DNA replication, it is recruited by SETDB1 to form a S phase-specific complex that facilitates methylation of H3 'Lys-9' during replication-coupled chromatin assembly and is at least composed of the CAF-1 subunit CHAF1A, MBD1 and SETDB1. Interacts with ERG, TRIM28/TIF1B, CBX1, CBX5, CHD7, DNMT3A, HDAC1, HDAC2, NLK, PPARG, SIN3A, SIN3B, DNMT3B and SUMO2. Interacts with MPHOSPH8. SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Associated with non-pericentromeric regions of chromatin. Excluded from nucleoli and islands of condensed chromatin. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q15047-1; Sequence=Displayed; Name=2; IsoId=Q15047-2; Sequence=VSP_002217, VSP_002218; Note=No experimental confirmation available; Name=3; IsoId=Q15047-3; Sequence=VSP_034600; Note=No experimental confirmation available; TISSUE SPECIFICITY: Widely expressed. High expression in testis. DOMAIN: The pre-SET, SET and post-SET domains are all required for methyltransferase activity. The 347-amino-acid insertion in the SET domain has no effect on the catalytic activity. DOMAIN: Isoform 2 lacks all domains required for histone methyltransferase activity. MISCELLANEOUS: Highly up-regulated in Huntington disease patients, suggesting that participates in the altered chromatin modulation and transcription dysfunction observed in Huntington disease. Its down-regulation has salubrious effects on patients, suggesting that it may be a promising treatment in Huntington disease patients. SIMILARITY: Belongs to the histone-lysine methyltransferase family. Suvar3-9 subfamily. SIMILARITY: Contains 1 MBD (methyl-CpG-binding) domain. SIMILARITY: Contains 1 post-SET domain. SIMILARITY: Contains 1 pre-SET domain. SIMILARITY: Contains 1 SET domain. SIMILARITY: Contains 2 Tudor domains. SEQUENCE CAUTION: Sequence=BAA06689.2; Type=Erroneous initiation; Sequence=CAI13325.1; Type=Erroneous gene model prediction; Sequence=CAI13326.1; Type=Erroneous gene model prediction; GENE SYNONYMS:SETDB1 KIAA0067 KMT1E. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 1291 AA; 143157 MW; D8841B4C41B911C5 CRC64;
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| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:10761,
urn:biopax:RelationshipXref:NCBI GENE_9869,
urn:biopax:RelationshipXref:REFSEQ_NP_001138887,
urn:biopax:RelationshipXref:REFSEQ_NP_001230420,
urn:biopax:RelationshipXref:REFSEQ_NP_036564,
urn:biopax:UnificationXref:UNIPROT_A6NEW2,
urn:biopax:UnificationXref:UNIPROT_Q15047,
urn:biopax:UnificationXref:UNIPROT_Q5SZD8,
urn:biopax:UnificationXref:UNIPROT_Q5SZD9,
urn:biopax:UnificationXref:UNIPROT_Q5SZE0,
urn:biopax:UnificationXref:UNIPROT_Q5SZE7,
urn:biopax:UnificationXref:UNIPROT_Q96GM9
|
| biopax3:displayName |
SETB1_HUMAN
|
| biopax3:name |
2.1.1.43,
ERG-associated protein with SET domain,
ESET,
H3-K9-HMTase 4,
Histone H3-K9 methyltransferase 4,
Lysine N-methyltransferase 1E,
SET domain bifurcated 1,
SETDB1
|
| biopax3:entityFeature |
urn:biopax:ModificationFeature:SETB1_HUMAN_1,
urn:biopax:ModificationFeature:SETB1_HUMAN_2,
urn:biopax:ModificationFeature:SETB1_HUMAN_3,
urn:biopax:ModificationFeature:SETB1_HUMAN_4,
urn:biopax:ModificationFeature:SETB1_HUMAN_5,
urn:biopax:ModificationFeature:SETB1_HUMAN_6,
urn:biopax:ModificationFeature:SETB1_HUMAN_7
|
| biopax3:organism | |
| biopax3:sequence |
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASRAVTNCESLVKDFYSKLGLQYRDSSSEDESSRPTEIIEIPDEDDDVLSIDSGDAGSRTPKDQKLREAMAALRKSAQDVQKFMDAVNKKSSSQDLHKGTLSQMSGELSKDGDLIVSMRILGKKRTKTWHKGTLIAIQTVGPGKKYKVKFDNKGKSLLSGNHIAYDYHPPADKLYVGSRVVAKYKDGNQVWLYAGIVAETPNVKNKLRFLIFFDDGYASYVTQSELYPICRPLKKTWEDIEDISCRDFIEEYVTAYPNRPMVLLKSGQLIKTEWEGTWWKSRVEEVDGSLVRILFLDDKRCEWIYRGSTRLEPMFSMKTSSASALEKKQGQLRTRPNMGAVRSKGPVVQYTQDLTGTGTQFKPVEPPQPTAPPAPPFPPAPPLSPQAGDSDLESQLAQSRKQVAKKSTSFRPGSVGSGHSSPTSPALSENVSGGKPGINQTYRSPLGSTASAPAPSALPAPPAPPVFHGMLERAPAEPSYRAPMEKLFYLPHVCSYTCLSRVRPMRNEQYRGKNPLLVPLLYDFRRMTARRRVNRKMGFHVIYKTPCGLCLRTMQEIERYLFETGCDFLFLEMFCLDPYVLVDRKFQPYKPFYYILDITYGKEDVPLSCVNEIDTTPPPQVAYSKERIPGKGVFINTGPEFLVGCDCKDGCRDKSKCACHQLTIQATACTPGGQINPNSGYQYKRLEECLPTGVYECNKRCKCDPNMCTNRLVQHGLQVRLQLFKTQNKGWGIRCLDDIAKGSFVCIYAGKILTDDFADKEGLEMGDEYFANLDHIESVENFKEGYESDAPCSSDSSGVDLKDQEDGNSGTEDPEESNDDSSDDNFCKDEDFSTSSVWRSYATRRQTRGQKENGLSETTSKDSHPPDLGPPHIPVPPSIPVGGCNPPSSEETPKNKVASWLSCNSVSEGGFADSDSHSSFKTNEGGEGRAGGSRMEAEKASTSGLGIKDEGDIKQAKKEDTDDRNKMSVVTESSRNYGYNPSPVKPEGLRRPPSKTSMHQSRRLMASAQSNPDDVLTLSSSTESEGESGTSRKPTAGQTSATAVDSDDIQTISSGSEGDDFEDKKNMTGPMKRQVAVKSTRGFALKSTHGIAIKSTNMASVDKGESAPVRKNTRQFYDGEESCYIIDAKLEGNLGRYLNHSCSPNLFVQNVFVDTHDLRFPWVAFFASKRIRAGTELTWDYNYEVGSVEGKELLCCCGAIECRGRLL
|
| biopax3:standardName |
Histone-lysine N-methyltransferase SETDB1
|