| Primary Identifier | MGI:2149543 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 67123 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ubiquitin binding activity. Predicted to be involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Predicted to be located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. Predicted to be part of ESCRT I complex. Used to study hereditary spastic paraplegia 80. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 80. Orthologous to human UBAP1 (ubiquitin associated protein 1). PHENOTYPE: Mice homozygous for an allele lacking the SOUBA domain exhibit prenatal lethality. Heterozygotes lacking the SOUBA domain develop progressive hindlimb dysfunction, loss of neurons in the spinal cord and model spastic paraplegia 80. [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
