Primary Identifier | MGI:98346 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 20643 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable U1 snRNP binding activity. Predicted to be involved in spliceosomal snRNP assembly. Predicted to be located in cytosol and nucleus. Predicted to be part of several cellular components, including methylosome; small nuclear ribonucleoprotein complex; and spliceosomal complex. Is expressed in central nervous system; sensory organ; and tooth. Human ortholog(s) of this gene implicated in hepatocellular carcinoma; hypotrichosis 1; hypotrichosis 11; and lupus nephritis. Orthologous to human SNRPE (small nuclear ribonucleoprotein polypeptide E). PHENOTYPE: Mice heterozygous for an ENU-induced mutation display severely decreased testis weight and reduced spermatogenesis. [provided by MGI curators] |