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Literature summary for 2.1.1.366 extracted from

  • Markouli, M.; Strepkos, D.; Piperi, C.
    Structure, activity and function of the SETDB1 protein methyltransferase (2021), Life, 11, 817.
    View publication on PubMed
Search for more literature for 2.1.1.366

Localization

Localization Comment Organism GeneOntology No. Textmining
cytoplasm
-
 Homo sapiens 5737
-
nucleus
-
 Homo sapiens 5634
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
S-adenosyl-L-methionine + a [histone H3]-N6,N6-dimethyl-L-lysine9 Homo sapiens
-
 S-adenosyl-L-homocysteine + a [histone H3]-N6,N6,N6-trimethyl-L-lysine9
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q15047
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
S-adenosyl-L-methionine + a [histone H3]-N6,N6-dimethyl-L-lysine9
-
 Homo sapiens S-adenosyl-L-homocysteine + a [histone H3]-N6,N6,N6-trimethyl-L-lysine9
-
 ?

Synonyms

Synonyms Comment Organism
SET domain bifurcated histone lysine methyltransferase 1
-
 Homo sapiens
SETDB1 protein methyltransferase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction aberrant SETDB1 activity is linked to disease onset, including nervous, cardiovascular and gastrointestinal system disorders, as well as numerous inherited genetic syndromes. SETDB1 is most significantly involved in tumorigenesis by repressing tumor suppressor genes after establishing the H3K9me3 mark. SETDB1 activity results in higher aggressiveness and worse cancer prognosis and has therefore been regarded as an oncogene Homo sapiens
additional information SETDB1 exists in three isoforms, with isoform 1 being considered as the canonical sequence, including all the necessary domains for full enzyme activity. Isoform 2 contains the same domains as isoform 1. Isoform 2 is produced by alternate splicing of an in-frame splice site which is present in the 3' coding region, resulting in C-terminal truncation in the post-SET domain, thus producing a shorter protein form. Isoform 3 lacks all the domains of the C-terminus that are required for enzyme activity Homo sapiens
physiological function SETDB1 has a central role in normal physiology and nervous system development, having been implicated in the regulation of cell cycle progression, inactivation of the X chromosome, immune cells function, expression of retroelements and formation of promyelocytic leukemia nuclear bodies. SETDB1 has been frequently deregulated in carcinogenesis, being implicated in the pathogenesis of gliomas, melanomas, as well as in lung, breast, gastrointestinal and ovarian tumors, where it mainly exerts an oncogenic role Homo sapiens