UBA1

Reviewed December 2009

What is the official name of the UBA1 gene?

The official name of this gene is “ubiquitin-like modifier activating enzyme 1.”

UBA1 is the gene's official symbol. The UBA1 gene is also known by other names, listed below.

What is the normal function of the UBA1 gene?

The UBA1 gene (also called UBE1) provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is involved in a process that targets proteins to be broken down (degraded) within cells. Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells.

Ubiquitin-activating enzyme E1 is part of the ubiquitin-proteasome system, which is the cell machinery that breaks down unneeded proteins. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. Ubiquitin-activating enzyme E1 is responsible for the first step in the ubiquitin-proteasome system; it turns on (activates) a small protein called ubiquitin. With the assistance of other proteins, the active ubiquitin attaches to a targeted protein. When a chain of ubiquitin proteins is attached to the targeted protein, the protein is recognized and destroyed by a complex of enzymes called a proteasome.

Does the UBA1 gene share characteristics with other genes?

The UBA1 gene belongs to a family of genes called UBA (ubiquitin-like modifier activating enzymes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the UBA1 gene related to health conditions?

spinal muscular atrophy - caused by mutations in the UBA1 gene: At least three mutations in the UBA1 gene have been found to cause X-linked infantile spinal muscular atrophy. Each of these mutations changes one DNA building block (nucleotide) in the UBA1 gene. Two of the mutations (written as 1617G>T and 1639A>G) are thought to lead to an enzyme with impaired function. A third mutation (written as 1731C>T) results in a decrease in the activity of the UBA1 gene, causing less of the enzyme to be produced. Reduced levels of functional enzyme can disrupt the process of protein degradation. A buildup of proteins in cells can cause the cell to die; the motor nerve cells that control muscle movement are particularly susceptible to damage from protein buildup.

Where is the UBA1 gene located?

Cytogenetic Location: Xp11.23

Molecular Location on the X chromosome: base pairs 47,050,198 to 47,074,526

The UBA1 gene is located on the short (p) arm of the X chromosome at position 11.23.

More precisely, the UBA1 gene is located from base pair 47,050,198 to base pair 47,074,526 on the X chromosome.

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 UBA1?

You and your healthcare professional may find the following resources about UBA1 helpful.

Educational resources - Information pages
Madame Curie Bioscience Database: Ubiquitination/De-Ubiquitination (http://www.ncbi.nlm.nih.gov/books/NBK6166/)
Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK2594/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for UBA1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7317%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=(UBA1%5BTIAB%5D)%20OR%20((UBA1A%5BTIAB%5D)%20OR%20(UBE1%5BTIAB%5D)%20OR%20(ubiquitin-activating%20enzyme%20E1%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/314370)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_UBA1.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7317)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=7317)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=12469)

What other names do people use for the UBA1 gene or gene products?

A1S9
A1S9T
A1ST
AMCX1
GXP1
MGC4781
SMAX2
UBA1A
UBA1_HUMAN
UBA1, ubiquitin-activating enzyme E1 homolog A
UBE1
UBE1X
ubiquitin-activating enzyme E1

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 UBA1?

atrophy ; cell ; DNA ; enzyme ; gene ; motor ; mutation ; nucleotide ; proteasome ; protein ; ubiquitin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martínez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L. X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Genet Med. 2007 Jan;9(1):52-60. (http://www.ncbi.nlm.nih.gov/pubmed/17224690?dopt=Abstract)
Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7317)
OMIM: UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 1 (http://omim.org/entry/314370)
Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet. 2008 Jan;82(1):188-93. doi: 10.1016/j.ajhg.2007.09.009. (http://www.ncbi.nlm.nih.gov/pubmed/18179898?dopt=Abstract)
Schulman BA, Harper JW. Ubiquitin-like protein activation by E1 enzymes: the apex for downstream signalling pathways. Nat Rev Mol Cell Biol. 2009 May;10(5):319-31. doi: 10.1038/nrm2673. Epub 2009 Apr 8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19352404?dopt=Abstract)
Zheng M, Liu J, Yang Z, Gu X, Li F, Lou T, Ji C, Mao Y. Expression, purification and characterization of human ubiquitin-activating enzyme, UBE1. Mol Biol Rep. 2010 Mar;37(3):1413-9. doi: 10.1007/s11033-009-9525-3. Epub 2009 Apr 3. (http://www.ncbi.nlm.nih.gov/pubmed/19343538?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.