From NCBI Gene: Bare lymphocyte syndrome type 1From UniProt: Bare lymphocyte syndrome 1 (BLS1): A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract. [MIM:604571]

     From NCBI Gene: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014] From UniProt: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association.

The following transcription factors affect gene expression:

• IRF-1
• STAT1
• STAT1beta
• STAT1alpha

Induction:

By IFNG/IFN-gamma.

Molecular Function:

• Transporter Activity
• Atp Binding
• Lipid Binding
• Peptide Transporter Activity
• Peptide Antigen-Transporting Atpase Activity
• Mhc Class Ib Protein Binding
• Tap1 Binding
• Tapasin Binding

Biological Processes:

• Adaptive Immune Response
• Antigen Processing And Presentation Of Peptide Antigen Via Mhc Class I
• Antigen Processing And Presentation Of Exogenous Protein Antigen Via Mhc Class Ib, Tap-Dependent
• Antigen Processing And Presentation Of Endogenous Peptide Antigen Via Mhc Class I Via Er Pathway, Tap-Dependent
• Antigen Processing And Presentation Of Endogenous Peptide Antigen Via Mhc Class Ib Via Er Pathway, Tap-Dependent
• Positive Regulation Of Antigen Processing And Presentation Of Peptide Antigen Via Mhc Class I
• Intracellular Transport Of Viral Protein In Host Cell
• Antigen Processing And Presentation Of Endogenous Peptide Antigen Via Mhc Class I
• Cytosol To Er Transport
• Peptide Antigen Transport