Description: Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA. RefSeq Summary (NM_022832): Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009]. Transcript (Including UTRs) Position: hg19 chr4:53,457,127-53,525,502 Size: 68,376 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr4:53,463,806-53,525,317 Size: 61,512 Coding Exon Count: 9
ID:UBP46_HUMAN DESCRIPTION: RecName: Full=Ubiquitin carboxyl-terminal hydrolase 46; EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 46; AltName: Full=Ubiquitin thioesterase 46; AltName: Full=Ubiquitin-specific-processing protease 46; FUNCTION: Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67. Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2. CATALYTIC ACTIVITY: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). SUBUNIT: Interacts with WDR48. TISSUE SPECIFICITY: Broadly expressed. SIMILARITY: Belongs to the peptidase C19 family. USP12/USP46 subfamily.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): USP46 CDC HuGE Published Literature: USP46 Positive Disease Associations: Biochemical measures Related Studies:
Biochemical measures Zemunik ,et al. 2009, Genome-wide association study of biochemical traits in Korcula Island, Croatia, Croatian medical journal 2009 50- 1 : 23-33.
[PubMed 19260141]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P62068
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
