Human Gene PSMA6 (uc001wtd.3) Description and Page Index
Description: Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA. RefSeq Summary (NM_002791): The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]. Transcript (Including UTRs) Position: hg19 chr14:35,761,574-35,786,682 Size: 25,109 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr14:35,761,683-35,786,512 Size: 24,830 Coding Exon Count: 7
ID:PSA6_HUMAN DESCRIPTION: RecName: Full=Proteasome subunit alpha type-6; EC=220.127.116.11; AltName: Full=27 kDa prosomal protein; Short=PROS-27; Short=p27K; AltName: Full=Macropain iota chain; AltName: Full=Multicatalytic endopeptidase complex iota chain; AltName: Full=Proteasome iota chain; FUNCTION: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. CATALYTIC ACTIVITY: Cleavage of peptide bonds with very broad specificity. SUBUNIT: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. INTERACTION: P25787:PSMA2; NbExp=3; IntAct=EBI-357793, EBI-603262; P25788:PSMA3; NbExp=2; IntAct=EBI-357793, EBI-348380; O14818:PSMA7; NbExp=6; IntAct=EBI-357793, EBI-603272; SUBCELLULAR LOCATION: Cytoplasm. Nucleus. SIMILARITY: Belongs to the peptidase T1A family.
Genetic Association Studies of Complex Diseases and Disorders
Cardiovascular Ann Hum Genet. 2009 Sep;73(Pt 5):475-83, Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease., Ann Hum Genet..
Diabetes Mellitus, Type 2|Myocardial Infarction Michelangela Barbieri , et al. Atherosclerosis 2008 201(1):117-23, The -8 UTR C/G polymorphism of PSMA6 gene is associated with susceptibility to myocardial infarction in type 2 diabetic patients., Atherosclerosis 2008 201(1):117-23.
PSMA6 rs_1048990 polymorphism may contribute to MI susceptibility in type 2 diabetes.
diabetes, type 2 Sjakste, T. et al. 2007, Association of Microsatellite Polymorphisms of the Human 14q13.2 Region with Type 2 Diabetes Mellitus in Latvian and Finnish Populations, Ann Hum Genet 2007.
our data suggest that variants in the PSMA6 gene on chromosome 14q13.
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 P60900
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.
Biological Process: GO:0006508 proteolysis GO:0006511 ubiquitin-dependent protein catabolic process GO:0016579 protein deubiquitination GO:0043687 post-translational protein modification GO:0050727 regulation of inflammatory response GO:0051092 positive regulation of NF-kappaB transcription factor activity GO:0051603 proteolysis involved in cellular protein catabolic process