Reviewed June 2008
What is the official name of the CUL7 gene?
The official name of this gene is “cullin 7.”
CUL7 is the gene's official symbol. The CUL7 gene is also known by other names, listed below.
What is the normal function of the CUL7 gene?
The CUL7 gene provides instructions for making a protein called cullin-7. This protein plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system.
Cullin-7 helps to assemble a complex known as an E3 ubiquitin ligase. This complex tags damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to specialized cell structures known as proteasomes, which attach (bind) to the tagged proteins and degrade them. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth.
How are changes in the CUL7 gene related to health conditions?
- 3-M syndrome - caused by mutations in the CUL7 gene
At least 25 mutations in the CUL7 gene have been identified in people with 3-M syndrome. Some of these mutations substitute one protein building block (amino acid) for another amino acid in the cullin-7 protein. Others result in a cullin-7 protein that is abnormally short and nonfunctional.
Individuals in the Yakut population of Siberia with a variant of 3-M syndrome all have a particular mutation in both copies of the CUL7 gene in each cell. This mutation replaces the amino acid glutamine with a premature stop signal in the instructions for making the cullin-7 protein (written as Gln1553Ter or Q1553X).
Mutations in the CUL7 gene disrupt the ability of the cullin-7 protein to bring together the components of the E3 ubiquitin ligase complex, interfering with the process of tagging other proteins with ubiquitin (ubiquitination). It is not known how impaired ubiquitination results in growth retardation and the other signs and symptoms of 3-M syndrome.
Where is the CUL7 gene located?
Cytogenetic Location: 6p21.1
Molecular Location on chromosome 6: base pairs 43,005,354 to 43,021,682
The CUL7 gene is located on the short (p) arm of chromosome 6 at position 21.1.
More precisely, the CUL7 gene is located from base pair 43,005,354 to base pair 43,021,682 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about CUL7?
You and your healthcare professional may find the following resources about CUL7 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1481/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CUL7 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9820%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((CUL7%5BTIAB%5D)%20OR%20(cullin%207%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/609577)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CUL7.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=9820)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=21024)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9820)
What other names do people use for the CUL7 gene or gene products?
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding CUL7?
amino acid ;
cell division ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Andrews P, He YJ, Xiong Y. Cytoplasmic localized ubiquitin ligase cullin 7 binds to p53 and promotes cell growth by antagonizing p53 function. Oncogene. 2006 Aug 3;25(33):4534-48. Epub 2006 Mar 20. (http://www.ncbi.nlm.nih.gov/pubmed/16547496?dopt=Abstract)
- Dias DC, Dolios G, Wang R, Pan ZQ. CUL7: A DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16601-6. Epub 2002 Dec 12. (http://www.ncbi.nlm.nih.gov/pubmed/12481031?dopt=Abstract)
- Gene Review: 3-M Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1481/)
- Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. Identification of mutations in CUL7 in 3-M syndrome. Nat Genet. 2005 Oct;37(10):1119-24. Epub 2005 Sep 4. (http://www.ncbi.nlm.nih.gov/pubmed/16142236?dopt=Abstract)
- Kim SS, Shago M, Kaustov L, Boutros PC, Clendening JW, Sheng Y, Trentin GA, Barsyte-Lovejoy D, Mao DY, Kay R, Jurisica I, Arrowsmith CH, Penn LZ. CUL7 is a novel antiapoptotic oncogene. Cancer Res. 2007 Oct 15;67(20):9616-22. (http://www.ncbi.nlm.nih.gov/pubmed/17942889?dopt=Abstract)
- Maksimova N, Hara K, Miyashia A, Nikolaeva I, Shiga A, Nogovicina A, Sukhomyasova A, Argunov V, Shvedova A, Ikeuchi T, Nishizawa M, Kuwano R, Onodera O. Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia. J Med Genet. 2007 Dec;44(12):772-8. Epub 2007 Aug 3. (http://www.ncbi.nlm.nih.gov/pubmed/17675530?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9820)
- OMIM: CULLIN 7 (http://omim.org/entry/609577)
- Xu X, Sarikas A, Dias-Santagata DC, Dolios G, Lafontant PJ, Tsai SC, Zhu W, Nakajima H, Nakajima HO, Field LJ, Wang R, Pan ZQ. The CUL7 E3 ubiquitin ligase targets insulin receptor substrate 1 for ubiquitin-dependent degradation. Mol Cell. 2008 May 23;30(4):403-14. doi: 10.1016/j.molcel.2008.03.009. (http://www.ncbi.nlm.nih.gov/pubmed/18498745?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.