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SIL1

SIL1

Reviewed September 2008

What is the official name of the SIL1 gene?

The official name of this gene is “SIL1 nucleotide exchange factor.”

SIL1 is the gene's official symbol. The SIL1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SIL1 gene?

The SIL1 gene provides instructions for producing a protein located in a cell structure called the endoplasmic reticulum. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape. The SIL1 protein works with BiP, a protein that helps fold newly produced proteins into the proper shape and refold damaged proteins. To start this process, BiP attaches (binds) to a molecule called adenosine triphosphate (ATP). When BiP folds a protein, the ATP is converted to a similar molecule called adenosine diphosphate (ADP). Then the SIL1 protein releases ADP from BiP so that it can bind to another molecule of ATP and start the protein folding process again. Because of its role in helping BiP exchange ADP for ATP, the SIL1 protein is called a nucleotide exchange factor.

How are changes in the SIL1 gene related to health conditions?

Marinesco-Sjögren syndrome - caused by mutations in the SIL1 gene

More than a dozen mutations in the SIL1 gene have been found to cause Marinesco-Sjögren syndrome. Most of these mutations result in the production of a protein that has little or no activity. Defective SIL1 protein cannot remove ADP from BiP. BiP is then unable to bind to ATP and re-start the protein folding process. A disruption in protein folding impairs protein transport and causes proteins to accumulate in the endoplasmic reticulum. This accumulation likely damages and destroys cells in many different tissues, leading to poor coordination, muscle weakness, and the other features of Marinesco-Sjögren syndrome.

Where is the SIL1 gene located?

Cytogenetic Location: 5q31

Molecular Location on chromosome 5: base pairs 138,946,719 to 139,198,375

The SIL1 gene is located on the long (q) arm of chromosome 5 at position 31.

The SIL1 gene is located on the long (q) arm of chromosome 5 at position 31.

More precisely, the SIL1 gene is located from base pair 138,946,719 to base pair 139,198,375 on chromosome 5.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SIL1?

You and your healthcare professional may find the following resources about SIL1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SIL1 gene or gene products?

  • BAP
  • BiP-associated protein
  • MSS
  • SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
  • SIL1_HUMAN
  • SIL1 protein
  • ULG5

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SIL1?

adenosine diphosphate ; adenosine triphosphate ; ADP ; ATP ; cell ; chaperone ; endoplasmic reticulum ; gene ; molecule ; nucleotide ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (9 links)

 

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? in the Handbook.

 
Reviewed: September 2008
Published: March 23, 2015