| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Involved in the presentation of foreign antigens to the immune system. SUBUNIT: Heterodimer of an alpha chain and a beta chain (beta-2- microglobulin). Interacts with human herpesvirus 8 MIR1 protein (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. PTM: Polyubiquitinated in a post ER compartment by interaction with human herpesvirus 8 MIR1 protein. This targets the protein for rapid degradation via the ubiquitin system (By similarity). POLYMORPHISM: The following alleles of B-27 are known: B*27:01=B*27:05, B*27:02 (B27.2; B-27k; B27e), B*27:03 (B27d), B*27:04, B*27:06, B*27:07, B*27:08 (B7Qui) and B*27:09 (B27-ci). The sequence shown is that of B*27:01. DISEASE: Defects in HLA-B are a cause of susceptibility to spondyloarthropathy type 1 (SPDA1) [MIM:106300]. It is a chronic rheumatic disease with multifactorial inheritance. It includes a spectrum of related disorders comprising ankylosing spondylitis, a subset of psoriatic arthritis, reactive arthritis (e.g.,Reiter syndrome), arthritis associated with inflammatory bowel disease and undifferentiated spondyloarthropathy. These disorders may occur simultaneously or sequentially in the same patient, probably representing various phenotypic expressions of the same disease. Ankylosing spondylitis is the form of rheumatoid arthritis affecting the spine and is considered the prototype of seronegative spondyloarthropathies. It produces pain and stiffness as a result of inflammation of the sacroiliac, intervertebral, and costovertebral joints. Note=In the Greek Cypriot population, a restricted number of HLA-B27 subtypes are associated with ankylosing spondylitis and other B27-related diseases and an elevated frequency of the B*2702 allele in ankylosing spondylitis patients is identified. The allele B*2707 seems to have a protective role in this population because it was found only in the healthy controls. SIMILARITY: Belongs to the MHC class I family. SIMILARITY: Contains 1 Ig-like C1-type (immunoglobulin-like) domain. GENE SYNONYMS:HLA-B HLAB. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 362 AA; 40428 MW; C8D2F154E3292031 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:4932,
urn:biopax:UnificationXref:UNIPROT_O19692,
urn:biopax:UnificationXref:UNIPROT_P03989,
urn:biopax:UnificationXref:UNIPROT_P10317,
urn:biopax:UnificationXref:UNIPROT_P10318,
urn:biopax:UnificationXref:UNIPROT_P19373,
urn:biopax:UnificationXref:UNIPROT_P30467,
urn:biopax:UnificationXref:UNIPROT_Q08136,
urn:biopax:UnificationXref:UNIPROT_Q29693,
urn:biopax:UnificationXref:UNIPROT_Q29846,
urn:biopax:UnificationXref:UNIPROT_Q29961
|
| biopax3:displayName |
1B27_HUMAN
|
| biopax3:name |
HLA-B,
MHC class I antigen B*27
|
| biopax3:organism | |
| biopax3:sequence |
MRVTAPRTLLLLLWGAVALTETWAGSHSMRYFHTSVSRPGRGEPRFITVGYVDDTLFVRFDSDAASPREEPRAPWIEQEGPEYWDRETQICKAKAQTDREDLRTLLRYYNQSEAGSHTLQNMYGCDVGPDGRLLRGYHQDAYDGKDYIALNEDLSSWTAADTAAQITQRKWEAARVAEQLRAYLEGECVEWLRRYLENGKETLQRADPPKTHVTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDRTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWEPSSQSTVPIVGIVAGLAVLAVVVIGAVVAAVMCRRKSSGGKGGSYSQAACSDSAQGSDVSLTA
|
| biopax3:standardName |
HLA class I histocompatibility antigen, B-27 alpha chain
|