B30.2-like domain proteins: update and new insights into a rapidly expanding family of proteins

The B30.2 domain is a conserved region of around 170 amino acids associated with several different protein domains, including the immunoglobulin folds of butyrophilin and the RING finger domain of ret finger protein. We recently reported several novel members of this family as well as previously und...

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Bibliographic Details
Published in:Molecular biology and evolution 1998-12, Vol.15 (12), p.1696-1705
Main Authors: Henry, J, Mather, I H, McDermott, M F, Pontarotti, P
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Autoimmune Diseases - genetics
Cattle
Chromosome Mapping
Databases as Topic
Evolution, Molecular
Genetic Diseases, Inborn - genetics
Humans
Molecular Sequence Data
Multigene Family
Phylogeny
Proteins - chemistry
Proteins - genetics
Sequence Alignment
Sequence Homology, Amino Acid
Space life sciences
Zinc Fingers
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Summary:The B30.2 domain is a conserved region of around 170 amino acids associated with several different protein domains, including the immunoglobulin folds of butyrophilin and the RING finger domain of ret finger protein. We recently reported several novel members of this family as well as previously undescribed protein families possessing the B30.2 domain. Many proteins have subsequently been found to possess this domain, including pyrin/marenostrin and the midline 1 (MID1) protein. Mutations in the B30.2 domain of pyrin/marenostrin are implicated in familial Mediterranean fever, and partial loss of the B30.2 domain of MID1 is responsible for Opitz G/BBB syndrome, characterized by developmental midline defects. In this study, we scrutinized the available sequence data bases for the identification of novel B30.2 domain proteins using highly sensitive database-searching tools. In addition, we discuss the chromosomal localization of genes in the B30.2 family, since the encoded proteins are likely to be involved in other forms of periodic fever, autoimmune, and genetic diseases.
ISSN:0737-4038
1537-1719
DOI:10.1093/oxfordjournals.molbev.a025896