1an4
From Proteopedia
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{{STRUCTURE_1an4| PDB=1an4 | SCENE= }} | {{STRUCTURE_1an4| PDB=1an4 | SCENE= }} | ||
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===STRUCTURE AND FUNCTION OF THE B/HLH/Z DOMAIN OF USF=== | ===STRUCTURE AND FUNCTION OF THE B/HLH/Z DOMAIN OF USF=== | ||
+ | {{ABSTRACT_PUBMED_8306960}} | ||
- | + | ==Disease== | |
+ | [[http://www.uniprot.org/uniprot/USF1_HUMAN USF1_HUMAN]] Genetic variations in USF1 are associated with hyperlipidemia combined type 1 (HYPLIP1) [MIM:[http://omim.org/entry/602491 602491]]; also known as familial combined hyperlipidemia type 1 (FCHL1). HYPLIP1 is characterized by elevated levels of serum total cholesterol, triglycerides or both, and is observed in about 20% of individuals with premature coronary heart disease.<ref>PMID:14991056</ref> | ||
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+ | ==Function== | ||
+ | [[http://www.uniprot.org/uniprot/USF1_HUMAN USF1_HUMAN]] Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
- | <ref group="xtra">PMID:008306960</ref><ref group="xtra">PMID:011258480</ref><references group="xtra"/> | + | <ref group="xtra">PMID:008306960</ref><ref group="xtra">PMID:011258480</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Amare, A R.Ferre-D.]] | [[Category: Amare, A R.Ferre-D.]] |
Revision as of 10:33, 24 March 2013
Contents |
STRUCTURE AND FUNCTION OF THE B/HLH/Z DOMAIN OF USF
Template:ABSTRACT PUBMED 8306960
Disease
[USF1_HUMAN] Genetic variations in USF1 are associated with hyperlipidemia combined type 1 (HYPLIP1) [MIM:602491]; also known as familial combined hyperlipidemia type 1 (FCHL1). HYPLIP1 is characterized by elevated levels of serum total cholesterol, triglycerides or both, and is observed in about 20% of individuals with premature coronary heart disease.[1]
Function
[USF1_HUMAN] Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters.
About this Structure
1an4 is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Ferre-D'Amare AR, Pognonec P, Roeder RG, Burley SK. Structure and function of the b/HLH/Z domain of USF. EMBO J. 1994 Jan 1;13(1):180-9. PMID:8306960
- Cokol M, Nair R, Rost B. Finding nuclear localization signals. EMBO Rep. 2000 Nov;1(5):411-5. PMID:11258480 doi:10.1093/embo-reports/kvd092
- ↑ Pajukanta P, Lilja HE, Sinsheimer JS, Cantor RM, Lusis AJ, Gentile M, Duan XJ, Soro-Paavonen A, Naukkarinen J, Saarela J, Laakso M, Ehnholm C, Taskinen MR, Peltonen L. Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). Nat Genet. 2004 Apr;36(4):371-6. Epub 2004 Feb 29. PMID:14991056 doi:10.1038/ng1320