Disease relevance of C9orf19

• A novel human transcript, C9orf19, mapped to the genomic region involved in hereditary inclusion body myopathy (IBM2) at chromosome 9p12-p13, has been cloned and characterized [1].
• We propose that increased GLIPR-2 expression in kidney contributes to development of fibrosis by increasing the pool of activated fibroblasts, possibly through the induction of EMT [2].

High impact information on C9orf19

• Golgi-associated PR-1 protein (GAPR-1) showed a brefeldin-A-sensitive Golgi localization in immunofluorescence [3].
• Consistent with the involvement of PR-1 proteins in the plant immune system, these data could indicate that GAPR-1 is involved in the immune system [3].
• Tissue screening revealed that GAPR-1 is not detectably expressed in liver, heart or adrenal glands [3].
• Structural analysis of the human Golgi-associated plant pathogenesis related protein GAPR-1 implicates dimerization as a regulatory mechanism [4].
• GAPR-1 is a unique family member as thus far it is the only PR-1 family member that is not co-translationally targeted to the lumen of the endoplasmic reticulum before trafficking to either vacuoles or secretion [4].

Biological context of C9orf19

• Mutation analysis of C9orf19 in IBM2 patients excluded it as the disease causing gene and revealed four single nucleotide polymorphisms within and in the vicinity of the gene, which will certainly be useful tools to study its potential role in several human diseases mapped to chromosome 9p12-p13 [1].
• Genomic characterization of the C9orf19 gene identified five exons extending over 27.2 kb of genomic DNA, located 12 kb centromeric to the tumor suppressor RECK gene [1].

Anatomical context of C9orf19

• C9orf19 mRNA is expressed in a wide range of adult tissues as a single transcript, most abundantly in lung and peripheral blood leukocytes [1].
• Examination of the expression pattern of GLIPR-2 indicated that the protein is selectively expressed in epithelial cells [2].
• GAPR-1 is tightly anchored to membranes and absent from the cytosol, although it does not possess a membrane-spanning domain [5].

Analytical, diagnostic and therapeutic context of C9orf19

• Crystallization of a Golgi-associated PR-1-related protein (GAPR-1) that localizes to lipid-enriched microdomains [5].

References