2kmu

From Proteopedia

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Template:STRUCTURE 2kmu

Contents 1 RecQL4 Amino-terminal Domain 2 Disease 3 Function 4 About this Structure 5 See Also 6 Reference

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

• Helicase

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

1. ↑ 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