Three radiation-induced alleles of the @entity19 p locus, p6H, p25H, and pbs, cause defects in growth, coordination, fertility, and maternal behavior in addition to p gene-related @entity4182 . These alleles are associated with disruption of the p gene plus an adjacent gene involved in the disorders listed. We have identified this adjacent gene, previously named rjs (runty jerky sterile), by positional cloning. The rjs cDNA is very large, covering 15,264 @entity2036 . The predicted rjs-encoded protein (4,836 @entity1522 ) contains several sequence motifs, including three @entity69671 repeats, a structural motif in common with @entity69672 , and a HECT domain in common with E6-AP ubiquitin ligase. On the basis of sequence homology and conserved synteny, the rjs gene is the single @entity19 homolog of a previously described five- or six-member @entity1 gene family. This family is represented by at least two genes, HSC7541 and KIAA0393, from @entity1 chromosome 15q11-q13. HSC7541 and KIAA0393 lie close to, or within, a region commonly deleted in most @entity6038 @entity1 . Previous work has suggested that the multiple phenotypes in rjs @entity19 might be due to a common @entity8799 . In addition to this proposed mode of action, alternative functions of the rjs gene are evaluated in light of its known protein homologies.

A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) XXXX .

@entity1 :: ('9606', 'Species') :: ['human', 'patients'] @entity1522 :: ('CHEBI:33709', 'Chemical') :: ['amino acids'] @entity4182 :: ('MESH:D017496', 'Disease') :: ['hypopigmentation'] @entity69671 :: ('100088(Tax:10090)', 'Gene') :: ['RCC1'] @entity2036 :: ('MESH:D009711', 'Chemical') :: ['nucleotides'] @entity19 :: ('10090', 'Species') :: ['mice', 'mouse'] @entity8799 :: ('MESH:D018358', 'Disease') :: ['neuroendocrine defect'] @entity69672 :: ('109672(Tax:10090)', 'Gene') :: ['cytochrome b5'] @entity6038 :: ('MESH:D011218', 'Disease') :: ['Prader-Willi syndrome']
@entity19 :: (10090,Species) :: ['mice']
