Arginyl Aminopeptidase Like Protein 1 (RNPEPL1)

In the course of positional cloning of a gene on chromosome 2 associated with noninsulin-dependent diabetes mellitus (NIDDM1), Horikawa et al. (2000) identified a gene in the 66-kb critical interval on chromosome 2q37.3 encoding a protein with homology to aminopeptidase B, otherwise known as arginyl aminopeptidase (RNPEP).

The 494-amino acid RNPEPL1 protein shares 49% identity with aminopeptidase B. Horikawa et al. (2000) detected RNPEPL1 mRNA of approximately 3.1 kb in all human tissues examined, with relatively higher levels in heart and skeletal muscle. The RNPEPL1 gene consists of at least 11 exons and spans 10 kb. Although 20 single-nucleotide polymorphisms (SNPs) were found in RNPEPL1, they showed no evidence for association with type 2 diabetes or evidence of linkage.