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Protein Coding Gene : Usp53 ubiquitin specific peptidase 53

Primary Identifier  MGI:2139607 Organism  Mus musculus
Chromosome  3 NCBI Gene Number  99526
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 3.2)

Predicted to have thiol-dependent ubiquitin-specific protease activity. Involved in several processes, including neuron apoptotic process; response to auditory stimulus; and sensory perception of sound. Localizes to cell-cell junction. Is expressed in olfactory epithelium; submandibular gland primordium; and tooth. Orthologous to human USP53 (ubiquitin specific peptidase 53).
PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss associated with altered cochlear outer hair cell (OHC) morphology, reduced endocochlear potential, and early OHC loss followed by IHC and spiral ganglion degeneration. Heterozygotes are susceptible to noise-induced hearing loss. [provided by MGI curators]
  • synonyms:
  • expressed sequence AA939927,
  • MGD-MRK-25954,
  • AA939927,
  • mKIAA1350,
  • mbo,
  • MGI:104523,
  • MGI:3708148,
  • ubiquitin specific peptidase 53,
  • Usp53,
  • per-hexamer repeat gene 3,
  • Sp6,
  • Phxr3,
  • mambo

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

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

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

88 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Mouse features --> Alleles

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications