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Genetics Home Reference: your guide to understanding genetic conditions
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Immunoglobulin superfamily, C1-set domain containing gene family

Reviewed July 2013

What are the immunoglobulin superfamily, C1-set domain containing genes?

The C1-set domain containing gene family is a subset of the immunoglobulin superfamily. Genes in the immunoglobulin superfamily provide instructions for making proteins that have a certain region called an immunoglobulin-like (Ig-like) domain. The domain is described as Ig-like because it resembles regions found in molecules called antibodies (also known as immunoglobulins). Antibodies are specialized proteins that attach (bind) to foreign invaders as part of the body's immune response.

Antibodies contain a variable (V) region and a constant (C) region. Ig-like domains can resemble the variable region, the constant region, or both; these domains are described as V-set, C-set, and I-set (intermediate) respectively. The C-set domains are divided into C1-set and C2-set: C1-set domains more closely resemble antibody constant regions, while C2-set domains have some features of variable regions. Proteins that contain a C1-set Ig-like domain are produced from C1-set domain containing genes in this family.

The Ig-like domain allows proteins to interact with other molecules, much like antibodies recognize and bind particular substances. Most C1-set domain containing proteins are involved in the immune system. Many are members of the human leukocyte antigen (HLA) complex. Proteins in this complex attach to foreign molecules and display them to the immune system to trigger the body's immune response.

Because many of the proteins produced from genes in the C1-set domain containing family are involved in immune function, mutations in these genes can lead to different immune system problems. Some mutations of genes in this family are associated with an overactive immune response, which leads to abnormal inflammation. Other mutations lead to decreased immune function and recurrent infections. Particular variants of several genes in this family are associated with autoimmune diseases, which occur when the immune system malfunctions and attacks the body's own tissues and organs.

Which genes are included in the immunoglobulin superfamily, C1-set domain containing gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the immunoglobulin superfamily, C1-set domain containing family (http://www.genenames.org/genefamilies/C1SET).

Genetics Home Reference summarizes the normal function and health implications of these members of the immunoglobulin superfamily, C1-set domain containing gene family: HFE, HLA-B, HLA-DPB1, HLA-DQA1, HLA-DQB1, and HLA-DRB1.

What conditions are related to genes in the immunoglobulin superfamily, C1-set domain containing gene family?

Genetics Home Reference includes these conditions related to genes in the immunoglobulin superfamily, C1-set domain containing gene family:

  • ankylosing spondylitis
  • autoimmune Addison disease
  • Behçet disease
  • celiac disease
  • granulomatosis with polyangiitis
  • Graves disease
  • Hashimoto thyroiditis
  • hemochromatosis
  • idiopathic inflammatory myopathy
  • juvenile idiopathic arthritis
  • multiple sclerosis
  • narcolepsy
  • porphyria
  • psoriatic arthritis
  • rheumatoid arthritis
  • type 1 diabetes
  • X-linked sideroblastic anemia

Where can I find additional information about the immunoglobulin superfamily, C1-set domain containing gene family?

You may find the following resources about the immunoglobulin superfamily, C1-set domain containing gene family helpful.

  • Biochemistry (Fifth Edition, 2002): Major-Histocompatibility-Complex Proteins Present Peptide Antigens on Cell Surfaces for Recognition by T-Cell Receptors (http://www.ncbi.nlm.nih.gov/books/NBK22373/)

What glossary definitions help with understanding the immunoglobulin superfamily, C1-set domain containing gene family?

antibody ; autoimmune ; class ; domain ; gene ; HLA ; immune response ; immune system ; immunoglobulin ; inflammation ; leukocyte

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

References

These sources were used to develop the Genetics Home Reference summary for the immunoglobulin superfamily, C1-set domain containing gene family.

  • Interpro: Immunoglobulin C1-set (http://www.ebi.ac.uk/interpro/entry/IPR003597)
  • Williams AF, Barclay AN. The immunoglobulin superfamily--domains for cell surface recognition. Annu Rev Immunol. 1988;6:381-405. Review. (http://www.ncbi.nlm.nih.gov/pubmed/3289571?dopt=Abstract)
  • Smith DK, Xue H. Sequence profiles of immunoglobulin and immunoglobulin-like domains. J Mol Biol. 1997 Dec 12;274(4):530-45. (http://www.ncbi.nlm.nih.gov/pubmed/9417933?dopt=Abstract)
  • Shiina T, Inoko H, Kulski JK. An update of the HLA genomic region, locus information and disease associations: 2004. Tissue Antigens. 2004 Dec;64(6):631-49. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15546336?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.

 
Reviewed: July 2013
Published: October 27, 2014