| Primary Identifier | MGI:95835 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14828 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables misfolded protein binding activity; protein folding chaperone; and ribosome binding activity. Involved in several processes, including IRE1-mediated unfolded protein response; cerebellum development; and positive regulation of protein ubiquitination. Acts upstream of or within ER overload response; cellular response to interleukin-4; and negative regulation of transforming growth factor beta receptor signaling pathway. Located in several cellular components, including cell surface; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. Part of endoplasmic reticulum chaperone complex. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and long bone. Human ortholog(s) of this gene implicated in dopamine beta-hydroxylase deficiency. Orthologous to human HSPA5 (heat shock protein family A (Hsp70) member 5). PHENOTYPE: Nullizygous embryos die around implantation. Neonates homozygous for a knock-in allele die of respiratory failure. Mice homozygous for an ENU-induced mutation exhibit abnormal thalamocortical axon patterning, small kidneys, cleft palate, respiratory distress, and postnatal lethality. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
