2kmu
From Proteopedia
(Difference between revisions)
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| - | [[Image:2kmu.png|left|200px]] | ||
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{{STRUCTURE_2kmu| PDB=2kmu | SCENE= }} | {{STRUCTURE_2kmu| PDB=2kmu | SCENE= }} | ||
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===RecQL4 Amino-terminal Domain=== | ===RecQL4 Amino-terminal Domain=== | ||
| + | {{ABSTRACT_PUBMED_22730300}} | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/RECQ4_HUMAN RECQ4_HUMAN]] RAPADILINO syndrome;Baller-Gerold syndrome;Rothmund-Thomson syndrome type 2. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/RECQ4_HUMAN RECQ4_HUMAN]] DNA-dependent ATPase. May modulate chromosome segregation.<ref>PMID:15317757</ref> | ||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Helicase|Helicase]] | *[[Helicase|Helicase]] | ||
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| + | ==Reference== | ||
| + | <ref group="xtra">PMID:022730300</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Gorlach, M.]] | [[Category: Gorlach, M.]] | ||
| - | [[Category: Ohlenschlager, O | + | [[Category: Ohlenschlager, O.]] |
[[Category: Pospiech, H.]] | [[Category: Pospiech, H.]] | ||
[[Category: Atp-binding]] | [[Category: Atp-binding]] | ||
Revision as of 08:51, 4 September 2013
Contents |
RecQL4 Amino-terminal Domain
Template:ABSTRACT PUBMED 22730300
Disease
[RECQ4_HUMAN] RAPADILINO syndrome;Baller-Gerold syndrome;Rothmund-Thomson syndrome type 2. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.
Function
[RECQ4_HUMAN] DNA-dependent ATPase. May modulate chromosome segregation.[1]
About this Structure
2kmu is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See Also
Reference
- Ohlenschlager O, Kuhnert A, Schneider A, Haumann S, Bellstedt P, Keller H, Saluz HP, Hortschansky P, Hanel F, Grosse F, Gorlach M, Pospiech H. The N-terminus of the human RecQL4 helicase is a homeodomain-like DNA interaction motif. Nucleic Acids Res. 2012 Sep 1;40(17):8309-24. Epub 2012 Jun 22. PMID:22730300 doi:10.1093/nar/gks591
- ↑ Yin J, Kwon YT, Varshavsky A, Wang W. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. Hum Mol Genet. 2004 Oct 15;13(20):2421-30. Epub 2004 Aug 18. PMID:15317757 doi:10.1093/hmg/ddh269
