Primary Identifier | MGI:104583 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 13858 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity and ubiquitin binding activity. Involved in ubiquitin-dependent endocytosis. Acts upstream of or within regulation of protein localization. Located in ciliary membrane; clathrin-coated pit; and clathrin-coated vesicle. Part of AP-2 adaptor complex. Is expressed in several structures, including adrenal gland; alimentary system; heart; metanephros; and nervous system. Orthologous to human EPS15 (epidermal growth factor receptor pathway substrate 15). PHENOTYPE: Homozygotes for a null allele show increased marginal zone B cell number with no changes in precursor cells, proliferation, apoptosis, migration or B cell responses. Homozygotes for a different null allele show decreased mean corpuscular hemoglobin (MCH), decreased MCH concentration, and dermatitis. [provided by MGI curators] |