Gene: PSMB8-AS1

Alternate names for this Gene: TAP1-AS1|TAPSAR1

Gene Summary:

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: PSMB8 antisense RNA 1 (head to head)

Type of Gene: ncRNA

Gene: PSMB8

Alternate names for this Gene: ALDD|D6S216|D6S216E|JMP|LMP7|NKJO|PRAAS1|PSMB5i|RING10

Gene Summary: 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 proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: proteasome 20S subunit beta 8

Type of Gene: protein-coding

rs6924102 in PSMB8-AS1;PSMB8 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs2071543 in PSMB8-AS1;PSMB8 gene and IGA Glomerulonephritis PMID 25305756 2014 Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

rs2071543 in PSMB8-AS1;PSMB8 gene and Rheumatoid Arthritis PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.