3ooi: Difference between revisions
From Proteopedia
Jump to navigationJump to search
m Protected "3ooi" [edit=sysop:move=sysop] |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_3ooi| PDB=3ooi | SCENE= }} | {{STRUCTURE_3ooi| PDB=3ooi | SCENE= }} | ||
===Crystal Structure of Human Histone-Lysine N-methyltransferase NSD1 SET domain in Complex with S-adenosyl-L-methionine=== | ===Crystal Structure of Human Histone-Lysine N-methyltransferase NSD1 SET domain in Complex with S-adenosyl-L-methionine=== | ||
{{ABSTRACT_PUBMED_21196496}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/NSD1_HUMAN NSD1_HUMAN]] Sotos syndrome;Beckwith-Wiedemann syndrome due to NSD1 mutation;5q35 microduplication syndrome;Weaver syndrome. Sotos syndrome 1 (SOTOS1) [MIM:[http://omim.org/entry/117550 117550]]: A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:21196496</ref> <ref>PMID:11896389</ref> <ref>PMID:14997421</ref> <ref>PMID:12464997</ref> <ref>PMID:12807965</ref> Weaver syndrome 1 (WVS1) [MIM:[http://omim.org/entry/277590 277590]]: A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:12464997</ref> <ref>PMID:12807965</ref> Beckwith-Wiedemann syndrome (BWS) [MIM:[http://omim.org/entry/130650 130650]]: A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:14997421</ref> Note=A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98. Note=A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/NSD1_HUMAN NSD1_HUMAN]] Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.<ref>PMID:21196496</ref> | |||
==About this Structure== | ==About this Structure== | ||
| Line 22: | Line 13: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID: | <ref group="xtra">PMID:021196496</ref><references group="xtra"/><references/> | ||
[[Category: Histone-lysine N-methyltransferase]] | [[Category: Histone-lysine N-methyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| Line 28: | Line 19: | ||
[[Category: Wang, M.]] | [[Category: Wang, M.]] | ||
[[Category: Xu, R M.]] | [[Category: Xu, R M.]] | ||
[[Category: Histone-lysine n-methyltransferase]] | |||
[[Category: S-adenosyl-l-methionine]] | |||
[[Category: Set domain]] | |||
[[Category: Transferase]] | |||
