Description: Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA. RefSeq Summary (NM_018218): Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]. CCDS Note: The coding region has been updated to shorten the N-terminus to one that is more supported by conservation. Transcript (Including UTRs) Position: hg19 chr2:234,384,165-234,474,236 Size: 90,072 Total Exon Count: 31 Strand: - Coding Region Position: hg19 chr2:234,386,038-234,474,236 Size: 88,199 Coding Exon Count: 31
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): USP40 CDC HuGE Published Literature: USP40 Positive Disease Associations: Bilirubin Related Studies:
Bilirubin Suzette J Bielinski et al. Mayo Clinic proceedings. Mayo Clinic 2011, Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels., Mayo Clinic proceedings. Mayo Clinic.
[PubMed 21646302]
Genome-wide association studies have identified genetic variants associated with numerous phenotypes but have been historically limited by inadequate sample size due to costly genotyping and phenotyping. Large consortia with harmonized genotype data have been assembled to attain sufficient statistical power, but phenotyping remains a rate-limiting factor in gene discovery research efforts. The EMR consists of an abundance of phenotype data that can be extracted in a relatively quick and systematic manner. The MayoGC provides a model of a unique collaborative effort in the environment of a common EMR for the investigation of genetic determinants of diseases.
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 Q9NVE5-3
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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
