Primary Identifier | MGI:1891831 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 55948 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphoprotein binding activity and protein kinase binding activity. Involved in several processes, including cAMP/PKA signal transduction; establishment of skin barrier; and protein export from nucleus. Acts upstream of or within keratinocyte differentiation; negative regulation of cell population proliferation; and regulation of cyclin-dependent protein serine/threonine kinase activity. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in transitional cell carcinoma and vulva squamous cell carcinoma. Orthologous to human SFN (stratifin). PHENOTYPE: Nullizygous mice show impaired B-cell homeostasis, BCR signaling, and T cell-independent B-cell responses. Homozygous hypomorphs show altered mammary epithelial morphology. Spontaneous mutants die at birth from respiratory stress with severe anomalies inskin, limbs, tails, face and oral cavity. [provided by MGI curators] |